Mutagenetix > Incidental Mutation

Incidental Mutation 'R4997:Hmcn2'

385311

Institutional Source

Beutler Lab

Gene Symbol

Hmcn2

Ensembl Gene

ENSMUSG00000055632

Gene Name

hemicentin 2

Synonyms

MMRRC Submission

042591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31204427-31350750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31291720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 2418 (V2418D)

Ref Sequence

ENSEMBL: ENSMUSP00000109160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113532] [ENSMUST00000226996]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113532
AA Change: V2418D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109160
Gene: ENSMUSG00000055632
AA Change: V2418D

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
VWA	37	211	1.21e-1	SMART
Blast:IG_like	263	340	2e-38	BLAST
IG	434	515	7.36e-2	SMART
IGc2	530	595	1.91e-9	SMART
IGc2	621	685	4.81e-15	SMART
IGc2	711	773	1.09e-13	SMART
IGc2	799	866	2.72e-14	SMART
IGc2	894	959	1.95e-15	SMART
IGc2	985	1049	5e-13	SMART
IGc2	1082	1147	1.09e-13	SMART
low complexity region	1151	1169	N/A	INTRINSIC
IGc2	1173	1232	7.07e-13	SMART
IGc2	1260	1326	4.31e-17	SMART
IGc2	1354	1428	3e-16	SMART
IGc2	1456	1522	1.82e-15	SMART
IGc2	1550	1615	2.7e-18	SMART
IGc2	1644	1708	1.3e-11	SMART
IGc2	1736	1801	6.69e-14	SMART
IG	1826	1917	2.31e0	SMART
IGc2	1932	1997	4.62e-17	SMART
IGc2	2024	2091	3.25e-12	SMART
IGc2	2117	2182	1.28e-10	SMART
IGc2	2209	2276	3.76e-8	SMART
IGc2	2305	2370	2.6e-11	SMART
IGc2	2399	2464	1.32e-12	SMART
IGc2	2492	2557	2.06e-14	SMART
IGc2	2588	2653	3.9e-15	SMART
IGc2	2686	2751	2.64e-12	SMART
IGc2	2797	2862	9.05e-11	SMART
IGc2	2892	2957	4.7e-9	SMART
IGc2	2984	3049	1.44e-13	SMART
IGc2	3079	3144	9.33e-13	SMART
IGc2	3171	3236	3.79e-13	SMART
IGc2	3264	3331	1.85e-16	SMART
IGc2	3360	3425	9.61e-15	SMART
low complexity region	3433	3445	N/A	INTRINSIC
IGc2	3453	3514	5.83e-14	SMART
IGc2	3542	3600	1.76e-8	SMART
low complexity region	3613	3627	N/A	INTRINSIC
IGc2	3628	3693	5.2e-11	SMART
IGc2	3719	3784	2.64e-12	SMART
IGc2	3810	3877	3.35e-5	SMART
IGc2	3903	3968	3.73e-12	SMART
IGc2	3994	4058	4.39e-9	SMART
IGc2	4084	4149	1.79e-14	SMART
low complexity region	4157	4169	N/A	INTRINSIC
IGc2	4175	4238	9.33e-13	SMART
IGc2	4265	4329	7.22e-19	SMART
IGc2	4355	4419	1.59e-15	SMART
Pfam:G2F	4431	4613	1.7e-56	PFAM
EGF_CA	4668	4708	5.78e-11	SMART
EGF_CA	4709	4753	9.39e-11	SMART
EGF_CA	4754	4796	7.69e-7	SMART
EGF_CA	4797	4837	2.19e-11	SMART
EGF_CA	4904	4943	6.74e-12	SMART
EGF_like	4944	4989	1.87e-5	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000130375
AA Change: V44D

SMART Domains

Protein: ENSMUSP00000118076
Gene: ENSMUSG00000055632
AA Change: V44D

Domain	Start	End	E-Value	Type
IGc2	26	91	1.32e-12	SMART
IG_like	94	155	1.87e-3	SMART
IG_like	107	166	5.71e0	SMART
IG_like	186	229	2.44e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226996

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	A	T	14: 33,775,623 (GRCm39)	M1L	probably benign	Het
Abca7	C	A	10: 79,843,154 (GRCm39)	Q1210K	possibly damaging	Het
Abcc4	C	T	14: 118,753,915 (GRCm39)	W1024*	probably null	Het
Accs	A	T	2: 93,672,228 (GRCm39)	Y213*	probably null	Het
Adam6a	G	T	12: 113,508,991 (GRCm39)	G455C	probably damaging	Het
Adcy1	A	C	11: 7,111,298 (GRCm39)	Y863S	probably benign	Het
Adgrg1	A	G	8: 95,736,148 (GRCm39)	D434G	probably damaging	Het
Afap1l1	C	T	18: 61,884,879 (GRCm39)	R202Q	probably benign	Het
Aldh3a1	T	C	11: 61,103,137 (GRCm39)	V27A	probably benign	Het
Antxr2	A	G	5: 98,125,553 (GRCm39)	F235L	probably benign	Het
Arhgap23	T	A	11: 97,342,846 (GRCm39)	V376E	probably damaging	Het
Brca1	A	C	11: 101,415,159 (GRCm39)	S992A	probably damaging	Het
Brcc3dc	A	G	10: 108,535,649 (GRCm39)	I102T	probably benign	Het
Calcrl	A	T	2: 84,181,592 (GRCm39)	C185*	probably null	Het
Cep152	T	C	2: 125,428,271 (GRCm39)	T787A	probably benign	Het
Coch	T	A	12: 51,649,964 (GRCm39)		probably null	Het
Col5a1	T	A	2: 27,922,794 (GRCm39)	Y287*	probably null	Het
Dis3l	A	G	9: 64,219,224 (GRCm39)	S569P	possibly damaging	Het
Dnai1	A	G	4: 41,597,919 (GRCm39)	I74V	possibly damaging	Het
Dpy19l4	A	G	4: 11,287,493 (GRCm39)	V394A	probably benign	Het
Egfem1	A	G	3: 29,207,739 (GRCm39)	H122R	probably benign	Het
Endou	A	G	15: 97,617,458 (GRCm39)	L164P	probably damaging	Het
Epgn	A	G	5: 91,180,098 (GRCm39)	E80G	possibly damaging	Het
Fcgbpl1	T	G	7: 27,843,349 (GRCm39)	S746A	possibly damaging	Het
Fitm1	T	C	14: 55,814,364 (GRCm39)	S287P	probably benign	Het
Foxm1	A	G	6: 128,342,731 (GRCm39)	N22D	probably benign	Het
Gsdmc	A	T	15: 63,648,629 (GRCm39)	M426K	probably damaging	Het
Hs3st2	T	A	7: 121,099,679 (GRCm39)	L175Q	possibly damaging	Het
Il1r2	T	C	1: 40,160,206 (GRCm39)		probably null	Het
Il27ra	A	T	8: 84,766,156 (GRCm39)	Y209*	probably null	Het
Inpp5a	A	T	7: 138,980,654 (GRCm39)	S31C	probably benign	Het
Invs	A	G	4: 48,396,332 (GRCm39)	D335G	probably damaging	Het
Isg15	C	T	4: 156,284,154 (GRCm39)	E125K	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama4	C	A	10: 38,968,262 (GRCm39)	T1468K	probably damaging	Het
Lce1a2	A	G	3: 92,576,395 (GRCm39)	S56P	unknown	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lmf1	G	A	17: 25,807,650 (GRCm39)	W164*	probably null	Het
Mad2l1bp	G	T	17: 46,463,804 (GRCm39)	C73*	probably null	Het
Mpzl1	A	C	1: 165,429,350 (GRCm39)	V230G	probably damaging	Het
Myo3b	A	G	2: 70,088,427 (GRCm39)	T869A	possibly damaging	Het
Ncor2	T	C	5: 125,111,074 (GRCm39)	H1316R	probably damaging	Het
Nlrp1b	T	A	11: 71,109,160 (GRCm39)	I114F	probably damaging	Het
Nsun7	A	G	5: 66,453,182 (GRCm39)	I632M	probably benign	Het
Nubp1	T	C	16: 10,239,185 (GRCm39)	I234T	probably benign	Het
Olfml1	A	G	7: 107,170,413 (GRCm39)	D100G	probably damaging	Het
Or1e1b-ps1	T	A	11: 73,845,612 (GRCm39)	L32Q	probably damaging	Het
Or5p73	C	A	7: 108,064,701 (GRCm39)	Q57K	probably benign	Het
Or7g23	A	T	9: 19,086,627 (GRCm39)	L115Q	probably damaging	Het
Osmr	G	T	15: 6,845,120 (GRCm39)	P882Q	probably benign	Het
Peg10	TCAGGATCC	TCAGGATCCCCAGCAGGATCC	6: 4,756,457 (GRCm39)		probably benign	Het
Per2	T	A	1: 91,378,505 (GRCm39)	T15S	probably benign	Het
Piezo2	A	G	18: 63,216,184 (GRCm39)	Y1184H	probably damaging	Het
Pik3c2b	C	T	1: 133,032,819 (GRCm39)	A1560V	probably damaging	Het
Pik3cd	A	C	4: 149,743,441 (GRCm39)	L256R	probably damaging	Het
Ppl	C	A	16: 4,907,235 (GRCm39)	R1020L	probably damaging	Het
Ppp1r10	A	G	17: 36,234,976 (GRCm39)	N60S	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prkci	T	C	3: 31,085,375 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,112,323 (GRCm39)	Y1929C	probably damaging	Het
Prss12	T	C	3: 123,240,857 (GRCm39)	V17A	probably benign	Het
Qtrt1	A	G	9: 21,328,654 (GRCm39)	N206S	probably benign	Het
Rad54l2	A	C	9: 106,600,108 (GRCm39)	S50A	possibly damaging	Het
Rhov	C	T	2: 119,100,949 (GRCm39)	R96H	probably damaging	Het
Rph3a	A	T	5: 121,101,906 (GRCm39)	V110E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	T	13: 11,610,192 (GRCm39)	N646K	probably benign	Het
Scn8a	A	G	15: 100,854,935 (GRCm39)	T141A	probably damaging	Het
Serping1	T	C	2: 84,600,629 (GRCm39)	R238G	possibly damaging	Het
Shank3	T	A	15: 89,433,901 (GRCm39)	W1474R	probably damaging	Het
Slc16a12	T	A	19: 34,652,358 (GRCm39)	M263L	probably benign	Het
Spata13	T	C	14: 60,946,908 (GRCm39)	V652A	probably damaging	Het
Spata31	G	A	13: 65,067,537 (GRCm39)	M66I	probably benign	Het
Spem2	T	C	11: 69,708,558 (GRCm39)	I136V	probably benign	Het
Supt5	T	C	7: 28,015,462 (GRCm39)	H925R	probably benign	Het
Syk	A	T	13: 52,766,484 (GRCm39)	K190*	probably null	Het
Thsd1	T	A	8: 22,733,340 (GRCm39)	V129D	probably damaging	Het
Tiprl	A	G	1: 165,047,759 (GRCm39)	V174A	possibly damaging	Het
Tmed4	T	A	11: 6,224,500 (GRCm39)		probably null	Het
Tnfrsf19	T	C	14: 61,208,658 (GRCm39)	T288A	probably benign	Het
Tnfrsf25	T	C	4: 152,202,153 (GRCm39)		probably null	Het
Tpd52	A	G	3: 9,000,056 (GRCm39)	L121S	probably damaging	Het
Trim30a	T	A	7: 104,060,827 (GRCm39)	K316N	probably benign	Het
Ttc3	T	G	16: 94,253,841 (GRCm39)	D1221E	probably damaging	Het
Ttn	C	T	2: 76,714,403 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,776,615 (GRCm39)	I1514V	probably benign	Het
Ulk2	T	C	11: 61,689,982 (GRCm39)	T671A	probably benign	Het
Wasf1	C	T	10: 40,810,600 (GRCm39)	P281S	probably damaging	Het
Wnt10b	C	A	15: 98,672,084 (GRCm39)	R211L	probably damaging	Het
Xpnpep3	T	A	15: 81,332,577 (GRCm39)	C371*	probably null	Het
Zfp41	C	T	15: 75,490,617 (GRCm39)		probably benign	Het
Zfp553	T	A	7: 126,834,683 (GRCm39)	N79K	probably benign	Het
Zmynd8	G	T	2: 165,634,736 (GRCm39)	D1096E	probably benign	Het

Other mutations in Hmcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Hmcn2	APN	2	31,233,108 (GRCm39)	missense	probably damaging	1.00
IGL00966:Hmcn2	APN	2	31,319,006 (GRCm39)	missense	probably damaging	0.97
IGL00973:Hmcn2	APN	2	31,273,833 (GRCm39)	intron	probably benign
IGL01364:Hmcn2	APN	2	31,251,826 (GRCm39)	nonsense	probably null
IGL01486:Hmcn2	APN	2	31,226,633 (GRCm39)	missense	probably damaging	1.00
IGL01530:Hmcn2	APN	2	31,244,276 (GRCm39)	missense	possibly damaging	0.85
IGL01550:Hmcn2	APN	2	31,314,264 (GRCm39)	missense	possibly damaging	0.84
IGL01710:Hmcn2	APN	2	31,233,114 (GRCm39)	missense	probably damaging	1.00
IGL01764:Hmcn2	APN	2	31,295,642 (GRCm39)	missense	possibly damaging	0.93
IGL01924:Hmcn2	APN	2	31,288,929 (GRCm39)	missense	probably benign	0.00
IGL02003:Hmcn2	APN	2	31,318,994 (GRCm39)	missense	possibly damaging	0.90
IGL02117:Hmcn2	APN	2	31,347,185 (GRCm39)	missense	possibly damaging	0.75
IGL02205:Hmcn2	APN	2	31,290,139 (GRCm39)	missense	probably damaging	1.00
IGL02273:Hmcn2	APN	2	31,314,389 (GRCm39)	missense	probably benign	0.06
IGL02313:Hmcn2	APN	2	31,343,617 (GRCm39)	missense	possibly damaging	0.68
IGL02326:Hmcn2	APN	2	31,340,964 (GRCm39)	missense	probably damaging	0.97
IGL02486:Hmcn2	APN	2	31,310,107 (GRCm39)	missense	probably damaging	0.98
IGL02551:Hmcn2	APN	2	31,344,823 (GRCm39)	missense	possibly damaging	0.83
IGL02695:Hmcn2	APN	2	31,298,985 (GRCm39)	missense	possibly damaging	0.87
IGL02725:Hmcn2	APN	2	31,295,540 (GRCm39)	missense	probably damaging	1.00
IGL02792:Hmcn2	APN	2	31,236,602 (GRCm39)	missense	probably damaging	1.00
IGL02882:Hmcn2	APN	2	31,303,379 (GRCm39)	nonsense	probably null
IGL03003:Hmcn2	APN	2	31,323,498 (GRCm39)	missense	probably damaging	0.98
IGL03067:Hmcn2	APN	2	31,236,642 (GRCm39)	missense	probably damaging	1.00
IGL03137:Hmcn2	APN	2	31,252,242 (GRCm39)	missense	probably damaging	0.98
IGL03220:Hmcn2	APN	2	31,236,633 (GRCm39)	missense	possibly damaging	0.94
IGL03411:Hmcn2	APN	2	31,236,649 (GRCm39)	missense	possibly damaging	0.83
PIT4544001:Hmcn2	UTSW	2	31,318,262 (GRCm39)	missense	probably damaging	0.98
R0044:Hmcn2	UTSW	2	31,302,520 (GRCm39)	missense	probably damaging	0.98
R0044:Hmcn2	UTSW	2	31,302,520 (GRCm39)	missense	probably damaging	0.98
R0048:Hmcn2	UTSW	2	31,318,249 (GRCm39)	missense	possibly damaging	0.92
R0048:Hmcn2	UTSW	2	31,318,249 (GRCm39)	missense	possibly damaging	0.92
R0078:Hmcn2	UTSW	2	31,278,356 (GRCm39)	missense	probably damaging	1.00
R0090:Hmcn2	UTSW	2	31,316,210 (GRCm39)	missense	probably damaging	1.00
R0173:Hmcn2	UTSW	2	31,328,343 (GRCm39)	critical splice donor site	probably null
R0257:Hmcn2	UTSW	2	31,259,176 (GRCm39)	splice site	probably benign
R0266:Hmcn2	UTSW	2	31,335,365 (GRCm39)	splice site	probably benign
R0266:Hmcn2	UTSW	2	31,284,839 (GRCm39)	missense	probably benign	0.03
R0326:Hmcn2	UTSW	2	31,313,237 (GRCm39)	nonsense	probably null
R0366:Hmcn2	UTSW	2	31,314,218 (GRCm39)	missense	possibly damaging	0.88
R0400:Hmcn2	UTSW	2	31,290,141 (GRCm39)	missense	probably damaging	0.98
R0412:Hmcn2	UTSW	2	31,278,259 (GRCm39)	missense	probably damaging	0.98
R0436:Hmcn2	UTSW	2	31,295,624 (GRCm39)	missense	probably damaging	1.00
R0457:Hmcn2	UTSW	2	31,305,296 (GRCm39)	critical splice donor site	probably null
R0487:Hmcn2	UTSW	2	31,276,689 (GRCm39)	missense	possibly damaging	0.60
R0568:Hmcn2	UTSW	2	31,305,248 (GRCm39)	missense	probably benign	0.02
R0755:Hmcn2	UTSW	2	31,343,172 (GRCm39)	missense	probably damaging	0.99
R0811:Hmcn2	UTSW	2	31,310,383 (GRCm39)	missense	probably damaging	0.99
R0812:Hmcn2	UTSW	2	31,310,383 (GRCm39)	missense	probably damaging	0.99
R0964:Hmcn2	UTSW	2	31,281,523 (GRCm39)	missense	probably benign	0.23
R0988:Hmcn2	UTSW	2	31,225,463 (GRCm39)	missense	probably damaging	1.00
R1484:Hmcn2	UTSW	2	31,236,507 (GRCm39)	missense	probably damaging	1.00
R1509:Hmcn2	UTSW	2	31,204,491 (GRCm39)	missense	possibly damaging	0.86
R1535:Hmcn2	UTSW	2	31,310,419 (GRCm39)	missense	possibly damaging	0.91
R1574:Hmcn2	UTSW	2	31,294,899 (GRCm39)	missense	probably damaging	0.97
R1574:Hmcn2	UTSW	2	31,294,899 (GRCm39)	missense	probably damaging	0.97
R1600:Hmcn2	UTSW	2	31,320,799 (GRCm39)	missense	probably damaging	0.98
R1623:Hmcn2	UTSW	2	31,348,051 (GRCm39)	missense	possibly damaging	0.84
R1692:Hmcn2	UTSW	2	31,340,856 (GRCm39)	missense	possibly damaging	0.47
R1719:Hmcn2	UTSW	2	31,244,733 (GRCm39)	missense	probably damaging	1.00
R1747:Hmcn2	UTSW	2	31,347,997 (GRCm39)	missense	probably benign	0.00
R1756:Hmcn2	UTSW	2	31,286,132 (GRCm39)	missense	probably damaging	0.99
R1763:Hmcn2	UTSW	2	31,204,602 (GRCm39)	missense	probably damaging	1.00
R1815:Hmcn2	UTSW	2	31,283,055 (GRCm39)	missense	probably damaging	0.97
R1822:Hmcn2	UTSW	2	31,273,704 (GRCm39)	missense	probably damaging	0.99
R1858:Hmcn2	UTSW	2	31,305,295 (GRCm39)	critical splice donor site	probably null
R1895:Hmcn2	UTSW	2	31,295,647 (GRCm39)	missense	probably damaging	0.99
R1908:Hmcn2	UTSW	2	31,301,922 (GRCm39)	critical splice donor site	probably null
R1946:Hmcn2	UTSW	2	31,295,647 (GRCm39)	missense	probably damaging	0.99
R1966:Hmcn2	UTSW	2	31,279,341 (GRCm39)	missense	probably damaging	0.99
R2007:Hmcn2	UTSW	2	31,328,267 (GRCm39)	missense	possibly damaging	0.91
R2050:Hmcn2	UTSW	2	31,225,448 (GRCm39)	missense	probably damaging	1.00
R2055:Hmcn2	UTSW	2	31,268,294 (GRCm39)	missense	probably benign	0.33
R2097:Hmcn2	UTSW	2	31,270,431 (GRCm39)	missense	probably damaging	1.00
R2145:Hmcn2	UTSW	2	31,223,943 (GRCm39)	splice site	probably benign
R2155:Hmcn2	UTSW	2	31,350,361 (GRCm39)	missense	possibly damaging	0.68
R2170:Hmcn2	UTSW	2	31,270,293 (GRCm39)	missense	probably benign	0.08
R2188:Hmcn2	UTSW	2	31,309,947 (GRCm39)	missense	probably benign	0.14
R2208:Hmcn2	UTSW	2	31,270,309 (GRCm39)	missense	probably damaging	1.00
R2217:Hmcn2	UTSW	2	31,240,586 (GRCm39)	missense	probably benign	0.02
R2407:Hmcn2	UTSW	2	31,225,424 (GRCm39)	critical splice acceptor site	probably null
R2764:Hmcn2	UTSW	2	31,278,310 (GRCm39)	missense	probably damaging	0.98
R2913:Hmcn2	UTSW	2	31,350,222 (GRCm39)	missense	possibly damaging	0.68
R2986:Hmcn2	UTSW	2	31,251,010 (GRCm39)	missense	probably damaging	1.00
R3157:Hmcn2	UTSW	2	31,290,267 (GRCm39)	missense	probably damaging	0.99
R3406:Hmcn2	UTSW	2	31,323,284 (GRCm39)	splice site	probably benign
R3429:Hmcn2	UTSW	2	31,299,156 (GRCm39)	missense	possibly damaging	0.87
R3737:Hmcn2	UTSW	2	31,226,624 (GRCm39)	nonsense	probably null
R3739:Hmcn2	UTSW	2	31,226,624 (GRCm39)	nonsense	probably null
R3771:Hmcn2	UTSW	2	31,250,908 (GRCm39)	missense	probably damaging	0.99
R3772:Hmcn2	UTSW	2	31,250,908 (GRCm39)	missense	probably damaging	0.99
R3773:Hmcn2	UTSW	2	31,250,908 (GRCm39)	missense	probably damaging	0.99
R3804:Hmcn2	UTSW	2	31,242,897 (GRCm39)	splice site	probably null
R3837:Hmcn2	UTSW	2	31,303,419 (GRCm39)	missense	probably damaging	0.99
R3838:Hmcn2	UTSW	2	31,303,419 (GRCm39)	missense	probably damaging	0.99
R3846:Hmcn2	UTSW	2	31,320,362 (GRCm39)	missense	possibly damaging	0.51
R3925:Hmcn2	UTSW	2	31,343,169 (GRCm39)	missense	probably benign	0.00
R3934:Hmcn2	UTSW	2	31,270,496 (GRCm39)	critical splice donor site	probably null
R3946:Hmcn2	UTSW	2	31,272,406 (GRCm39)	missense	possibly damaging	0.91
R4035:Hmcn2	UTSW	2	31,226,624 (GRCm39)	nonsense	probably null
R4057:Hmcn2	UTSW	2	31,290,250 (GRCm39)	missense	probably damaging	1.00
R4583:Hmcn2	UTSW	2	31,303,277 (GRCm39)	missense	possibly damaging	0.84
R4623:Hmcn2	UTSW	2	31,286,722 (GRCm39)	missense	probably damaging	1.00
R4647:Hmcn2	UTSW	2	31,289,031 (GRCm39)	missense	possibly damaging	0.82
R4668:Hmcn2	UTSW	2	31,325,804 (GRCm39)	missense	probably benign	0.40
R4669:Hmcn2	UTSW	2	31,325,804 (GRCm39)	missense	probably benign	0.40
R4687:Hmcn2	UTSW	2	31,328,297 (GRCm39)	missense	probably benign	0.14
R4735:Hmcn2	UTSW	2	31,273,787 (GRCm39)	missense	probably benign	0.06
R4772:Hmcn2	UTSW	2	31,335,326 (GRCm39)	missense	probably benign	0.02
R4866:Hmcn2	UTSW	2	31,279,403 (GRCm39)	missense	possibly damaging	0.88
R4916:Hmcn2	UTSW	2	31,250,992 (GRCm39)	missense	probably damaging	0.98
R4943:Hmcn2	UTSW	2	31,225,504 (GRCm39)	missense	probably damaging	1.00
R4967:Hmcn2	UTSW	2	31,244,176 (GRCm39)	critical splice acceptor site	probably null
R4973:Hmcn2	UTSW	2	31,234,108 (GRCm39)	missense	probably benign	0.15
R4975:Hmcn2	UTSW	2	31,283,037 (GRCm39)	missense	possibly damaging	0.88
R4994:Hmcn2	UTSW	2	31,348,067 (GRCm39)	critical splice donor site	probably null
R5045:Hmcn2	UTSW	2	31,299,093 (GRCm39)	missense	probably damaging	1.00
R5117:Hmcn2	UTSW	2	31,348,061 (GRCm39)	missense	possibly damaging	0.95
R5151:Hmcn2	UTSW	2	31,279,455 (GRCm39)	missense	probably null
R5232:Hmcn2	UTSW	2	31,347,760 (GRCm39)	missense	probably damaging	0.99
R5237:Hmcn2	UTSW	2	31,304,728 (GRCm39)	missense	probably benign	0.01
R5288:Hmcn2	UTSW	2	31,350,333 (GRCm39)	missense	probably benign	0.11
R5375:Hmcn2	UTSW	2	31,320,453 (GRCm39)	missense	possibly damaging	0.92
R5379:Hmcn2	UTSW	2	31,299,023 (GRCm39)	missense	probably damaging	0.99
R5385:Hmcn2	UTSW	2	31,350,333 (GRCm39)	missense	probably benign	0.11
R5412:Hmcn2	UTSW	2	31,236,629 (GRCm39)	missense	possibly damaging	0.77
R5426:Hmcn2	UTSW	2	31,226,556 (GRCm39)	missense	possibly damaging	0.95
R5434:Hmcn2	UTSW	2	31,310,375 (GRCm39)	missense	probably damaging	1.00
R5441:Hmcn2	UTSW	2	31,296,428 (GRCm39)	missense	possibly damaging	0.82
R5484:Hmcn2	UTSW	2	31,283,066 (GRCm39)	nonsense	probably null
R5492:Hmcn2	UTSW	2	31,310,318 (GRCm39)	missense	probably benign	0.03
R5572:Hmcn2	UTSW	2	31,304,538 (GRCm39)	critical splice acceptor site	probably null
R5572:Hmcn2	UTSW	2	31,304,537 (GRCm39)	critical splice acceptor site	probably null
R5591:Hmcn2	UTSW	2	31,234,059 (GRCm39)	missense	probably damaging	1.00
R5614:Hmcn2	UTSW	2	31,318,315 (GRCm39)	missense	probably damaging	0.99
R5634:Hmcn2	UTSW	2	31,223,893 (GRCm39)	missense	probably damaging	1.00
R5645:Hmcn2	UTSW	2	31,310,824 (GRCm39)	missense	possibly damaging	0.92
R5716:Hmcn2	UTSW	2	31,348,750 (GRCm39)	missense	possibly damaging	0.68
R5716:Hmcn2	UTSW	2	31,226,579 (GRCm39)	missense	probably damaging	1.00
R5725:Hmcn2	UTSW	2	31,273,827 (GRCm39)	critical splice donor site	probably null
R5760:Hmcn2	UTSW	2	31,304,580 (GRCm39)	missense	possibly damaging	0.91
R5774:Hmcn2	UTSW	2	31,299,147 (GRCm39)	missense	possibly damaging	0.94
R5838:Hmcn2	UTSW	2	31,347,819 (GRCm39)	missense	probably damaging	0.99
R5899:Hmcn2	UTSW	2	31,244,685 (GRCm39)	missense	possibly damaging	0.93
R5916:Hmcn2	UTSW	2	31,286,151 (GRCm39)	missense	probably damaging	1.00
R5973:Hmcn2	UTSW	2	31,310,335 (GRCm39)	missense	probably damaging	0.99
R6002:Hmcn2	UTSW	2	31,310,321 (GRCm39)	missense	probably damaging	0.99
R6018:Hmcn2	UTSW	2	31,260,804 (GRCm39)	missense	probably benign	0.13
R6063:Hmcn2	UTSW	2	31,324,725 (GRCm39)	missense	probably benign	0.06
R6161:Hmcn2	UTSW	2	31,246,266 (GRCm39)	missense	probably benign
R6166:Hmcn2	UTSW	2	31,259,274 (GRCm39)	missense	probably damaging	1.00
R6177:Hmcn2	UTSW	2	31,310,118 (GRCm39)	nonsense	probably null
R6191:Hmcn2	UTSW	2	31,348,758 (GRCm39)	missense	probably damaging	0.99
R6195:Hmcn2	UTSW	2	31,274,127 (GRCm39)	missense	probably damaging	0.96
R6273:Hmcn2	UTSW	2	31,301,846 (GRCm39)	missense	probably damaging	0.99
R6293:Hmcn2	UTSW	2	31,225,463 (GRCm39)	missense	probably damaging	1.00
R6349:Hmcn2	UTSW	2	31,278,385 (GRCm39)	missense	probably damaging	1.00
R6395:Hmcn2	UTSW	2	31,259,269 (GRCm39)	missense	probably damaging	1.00
R6448:Hmcn2	UTSW	2	31,310,832 (GRCm39)	missense	probably benign	0.02
R6450:Hmcn2	UTSW	2	31,251,812 (GRCm39)	missense	probably benign	0.11
R6479:Hmcn2	UTSW	2	31,315,480 (GRCm39)	missense	probably damaging	0.99
R6502:Hmcn2	UTSW	2	31,272,490 (GRCm39)	missense	probably damaging	0.99
R6511:Hmcn2	UTSW	2	31,246,354 (GRCm39)	missense	possibly damaging	0.79
R6537:Hmcn2	UTSW	2	31,305,280 (GRCm39)	missense	probably benign	0.00
R6880:Hmcn2	UTSW	2	31,233,068 (GRCm39)	missense	probably damaging	1.00
R6924:Hmcn2	UTSW	2	31,240,517 (GRCm39)	splice site	probably null
R6971:Hmcn2	UTSW	2	31,322,333 (GRCm39)	missense	probably benign	0.02
R7057:Hmcn2	UTSW	2	31,312,661 (GRCm39)	missense	probably damaging	0.99
R7141:Hmcn2	UTSW	2	31,250,908 (GRCm39)	missense	probably benign	0.17
R7268:Hmcn2	UTSW	2	31,347,978 (GRCm39)	missense	possibly damaging	0.48
R7307:Hmcn2	UTSW	2	31,233,093 (GRCm39)	missense	probably damaging	0.96
R7322:Hmcn2	UTSW	2	31,349,093 (GRCm39)	missense	probably damaging	0.99
R7334:Hmcn2	UTSW	2	31,343,147 (GRCm39)	missense	possibly damaging	0.82
R7334:Hmcn2	UTSW	2	31,325,806 (GRCm39)	missense	probably damaging	0.98
R7335:Hmcn2	UTSW	2	31,282,169 (GRCm39)	missense	possibly damaging	0.88
R7358:Hmcn2	UTSW	2	31,306,824 (GRCm39)	missense	probably damaging	1.00
R7359:Hmcn2	UTSW	2	31,278,395 (GRCm39)	missense	probably benign	0.13
R7488:Hmcn2	UTSW	2	31,310,842 (GRCm39)	missense	probably damaging	1.00
R7498:Hmcn2	UTSW	2	31,273,487 (GRCm39)	splice site	probably null
R7560:Hmcn2	UTSW	2	31,347,185 (GRCm39)	missense	probably benign
R7566:Hmcn2	UTSW	2	31,344,869 (GRCm39)	missense	probably damaging	0.96
R7570:Hmcn2	UTSW	2	31,313,923 (GRCm39)	missense	probably benign
R7574:Hmcn2	UTSW	2	31,345,531 (GRCm39)	missense	possibly damaging	0.68
R7599:Hmcn2	UTSW	2	31,246,298 (GRCm39)	missense	possibly damaging	0.93
R7654:Hmcn2	UTSW	2	31,236,581 (GRCm39)	missense	probably benign	0.00
R7662:Hmcn2	UTSW	2	31,272,357 (GRCm39)	missense	probably benign	0.01
R7666:Hmcn2	UTSW	2	31,270,245 (GRCm39)	missense	probably damaging	1.00
R7698:Hmcn2	UTSW	2	31,313,165 (GRCm39)	missense	probably damaging	0.98
R7722:Hmcn2	UTSW	2	31,272,512 (GRCm39)	nonsense	probably null
R7739:Hmcn2	UTSW	2	31,348,038 (GRCm39)	missense	possibly damaging	0.48
R7749:Hmcn2	UTSW	2	31,343,045 (GRCm39)	splice site	probably null
R7828:Hmcn2	UTSW	2	31,295,887 (GRCm39)	missense	possibly damaging	0.95
R7912:Hmcn2	UTSW	2	31,310,311 (GRCm39)	missense	probably benign	0.00
R7978:Hmcn2	UTSW	2	31,279,359 (GRCm39)	missense	probably benign	0.40
R8075:Hmcn2	UTSW	2	31,279,403 (GRCm39)	missense	possibly damaging	0.88
R8088:Hmcn2	UTSW	2	31,316,915 (GRCm39)	nonsense	probably null
R8101:Hmcn2	UTSW	2	31,240,082 (GRCm39)	missense	probably benign	0.08
R8124:Hmcn2	UTSW	2	31,290,136 (GRCm39)	missense	probably benign	0.01
R8145:Hmcn2	UTSW	2	31,313,117 (GRCm39)	missense	probably damaging	1.00
R8230:Hmcn2	UTSW	2	31,234,485 (GRCm39)	missense	possibly damaging	0.91
R8267:Hmcn2	UTSW	2	31,349,191 (GRCm39)	missense	probably benign
R8277:Hmcn2	UTSW	2	31,259,189 (GRCm39)	missense	probably benign	0.16
R8307:Hmcn2	UTSW	2	31,286,127 (GRCm39)	missense	probably damaging	0.99
R8353:Hmcn2	UTSW	2	31,275,353 (GRCm39)	splice site	probably null
R8415:Hmcn2	UTSW	2	31,281,088 (GRCm39)	missense	probably benign	0.15
R8416:Hmcn2	UTSW	2	31,281,088 (GRCm39)	missense	probably benign	0.15
R8437:Hmcn2	UTSW	2	31,281,088 (GRCm39)	missense	probably benign	0.15
R8438:Hmcn2	UTSW	2	31,281,088 (GRCm39)	missense	probably benign	0.15
R8440:Hmcn2	UTSW	2	31,281,088 (GRCm39)	missense	probably benign	0.15
R8442:Hmcn2	UTSW	2	31,281,088 (GRCm39)	missense	probably benign	0.15
R8497:Hmcn2	UTSW	2	31,313,357 (GRCm39)	missense	possibly damaging	0.92
R8520:Hmcn2	UTSW	2	31,244,726 (GRCm39)	missense	probably damaging	1.00
R8530:Hmcn2	UTSW	2	31,281,088 (GRCm39)	missense	probably benign	0.15
R8537:Hmcn2	UTSW	2	31,281,088 (GRCm39)	missense	probably benign	0.15
R8550:Hmcn2	UTSW	2	31,240,654 (GRCm39)	critical splice donor site	probably null
R8721:Hmcn2	UTSW	2	31,315,189 (GRCm39)	missense	probably damaging	1.00
R8795:Hmcn2	UTSW	2	31,315,393 (GRCm39)	missense	probably benign	0.01
R8802:Hmcn2	UTSW	2	31,301,288 (GRCm39)	missense	probably damaging	0.97
R8804:Hmcn2	UTSW	2	31,315,393 (GRCm39)	missense	probably benign	0.01
R8805:Hmcn2	UTSW	2	31,315,393 (GRCm39)	missense	probably benign	0.01
R8904:Hmcn2	UTSW	2	31,323,404 (GRCm39)	missense	possibly damaging	0.92
R8937:Hmcn2	UTSW	2	31,204,427 (GRCm39)	start codon destroyed	probably benign	0.01
R8947:Hmcn2	UTSW	2	31,278,220 (GRCm39)	missense	probably damaging	0.99
R8948:Hmcn2	UTSW	2	31,244,741 (GRCm39)	missense	probably damaging	1.00
R8950:Hmcn2	UTSW	2	31,244,741 (GRCm39)	missense	probably damaging	1.00
R8959:Hmcn2	UTSW	2	31,282,159 (GRCm39)	missense	probably damaging	1.00
R9025:Hmcn2	UTSW	2	31,347,967 (GRCm39)	missense	possibly damaging	0.56
R9039:Hmcn2	UTSW	2	31,244,646 (GRCm39)	missense	probably damaging	0.97
R9068:Hmcn2	UTSW	2	31,303,685 (GRCm39)	missense	probably benign	0.01
R9161:Hmcn2	UTSW	2	31,242,758 (GRCm39)	missense	probably benign	0.02
R9178:Hmcn2	UTSW	2	31,281,521 (GRCm39)	missense	possibly damaging	0.77
R9204:Hmcn2	UTSW	2	31,278,377 (GRCm39)	missense	probably damaging	0.98
R9317:Hmcn2	UTSW	2	31,350,328 (GRCm39)	missense	possibly damaging	0.91
R9341:Hmcn2	UTSW	2	31,279,359 (GRCm39)	missense	probably benign	0.40
R9343:Hmcn2	UTSW	2	31,279,359 (GRCm39)	missense	probably benign	0.40
R9355:Hmcn2	UTSW	2	31,328,302 (GRCm39)	missense	probably benign	0.18
R9371:Hmcn2	UTSW	2	31,301,917 (GRCm39)	missense	probably damaging	1.00
R9450:Hmcn2	UTSW	2	31,316,845 (GRCm39)	missense	probably damaging	1.00
R9477:Hmcn2	UTSW	2	31,286,031 (GRCm39)	critical splice acceptor site	probably null
R9483:Hmcn2	UTSW	2	31,320,375 (GRCm39)	missense
R9536:Hmcn2	UTSW	2	31,335,130 (GRCm39)	missense	possibly damaging	0.86
R9580:Hmcn2	UTSW	2	31,294,875 (GRCm39)	missense	probably benign	0.16
R9593:Hmcn2	UTSW	2	31,244,742 (GRCm39)	missense	probably damaging	0.99
R9649:Hmcn2	UTSW	2	31,292,450 (GRCm39)	missense	possibly damaging	0.95
R9706:Hmcn2	UTSW	2	31,305,279 (GRCm39)	missense	probably benign	0.00
X0066:Hmcn2	UTSW	2	31,344,823 (GRCm39)	missense	possibly damaging	0.83
X0067:Hmcn2	UTSW	2	31,295,879 (GRCm39)	missense	possibly damaging	0.82
Z1088:Hmcn2	UTSW	2	31,349,076 (GRCm39)	splice site	probably null
Z1088:Hmcn2	UTSW	2	31,271,079 (GRCm39)	missense	probably benign	0.01
Z1176:Hmcn2	UTSW	2	31,319,103 (GRCm39)	missense	probably damaging	0.97
Z1176:Hmcn2	UTSW	2	31,315,428 (GRCm39)	missense	probably damaging	1.00
Z1176:Hmcn2	UTSW	2	31,234,041 (GRCm39)	missense	possibly damaging	0.95
Z1177:Hmcn2	UTSW	2	31,316,836 (GRCm39)	missense	probably damaging	0.99
Z1177:Hmcn2	UTSW	2	31,234,518 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGACAGAGCTCAAGTGC -3'
(R):5'- TTTCTGCAGGGCCTAGTTC -3'

Sequencing Primer
(F):5'- TCAAGTGCCAAGCTCCTG -3'
(R):5'- TGCAGGGCCTAGTTCCCATC -3'

Posted On

2016-05-10