Mutagenetix > Incidental Mutation

Incidental Mutation 'R1509:Hmcn2'

250620

Institutional Source

Beutler Lab

Gene Symbol

Hmcn2

Ensembl Gene

ENSMUSG00000055632

Gene Name

hemicentin 2

Synonyms

MMRRC Submission

039556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1509 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

31314415-31460738 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31314479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 22 (V22D)

Ref Sequence

ENSEMBL: ENSMUSP00000109160 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113532
AA Change: V22D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109160
Gene: ENSMUSG00000055632
AA Change: V22D

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

probably benign
Transcript: ENSMUST00000226996
AA Change: V22D

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

99% (89/90)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,192,647	S132P	probably benign	Het
4930430A15Rik	A	T	2: 111,218,627	M269K	probably benign	Het
AC153895.1	T	C	6: 50,043,471	R54G	unknown	Het
Acot12	G	A	13: 91,771,875		probably null	Het
Adhfe1	T	A	1: 9,553,446	D98E	probably benign	Het
Ago2	A	G	15: 73,116,364	F594S	probably damaging	Het
Aldh18a1	A	G	19: 40,557,483	I620T	probably damaging	Het
Aspscr1	C	A	11: 120,701,516	A294D	probably damaging	Het
BC067074	A	G	13: 113,368,256	N431S	probably damaging	Het
Bod1l	C	G	5: 41,819,540	R1477T	probably damaging	Het
Ccdc18	C	A	5: 108,188,978	A741D	possibly damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap52	C	T	11: 67,938,993	V317I	probably benign	Het
Cgn	A	T	3: 94,774,258	L509Q	probably benign	Het
Crb2	A	G	2: 37,786,619	H204R	probably benign	Het
Ddx39	G	A	8: 83,719,898	V99M	probably damaging	Het
Dis3l2	T	A	1: 87,021,086	C582S	possibly damaging	Het
Dmbt1	G	A	7: 131,074,331		probably benign	Het
Dnah6	T	C	6: 73,027,442	E3846G	probably damaging	Het
Dstyk	A	G	1: 132,456,346	E655G	probably damaging	Het
Epha4	T	C	1: 77,380,886	Y825C	probably damaging	Het
Esp36	T	A	17: 38,417,282	N36I	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fem1c	A	G	18: 46,524,213	S145P	probably benign	Het
Galnt13	T	C	2: 54,733,082	I80T	probably damaging	Het
Gm10125	A	G	18: 5,583,794		noncoding transcript	Het
Gm5698	T	C	1: 30,977,647	T108A	probably benign	Het
Hipk3	A	G	2: 104,441,262	S442P	probably benign	Het
Hspg2	C	T	4: 137,511,241		probably benign	Het
Ide	A	G	19: 37,285,204		probably null	Het
Ifnar1	C	A	16: 91,503,496	P462Q	probably damaging	Het
Itgb2l	T	A	16: 96,426,849	I485F	probably benign	Het
Jakmip3	C	T	7: 139,027,776	R549W	possibly damaging	Het
Lrrc36	A	G	8: 105,461,129	Q680R	probably damaging	Het
Lysmd3	T	G	13: 81,669,271	H122Q	probably benign	Het
Macf1	C	A	4: 123,684,009	V61L	possibly damaging	Het
Map1b	T	C	13: 99,431,528	T1562A	unknown	Het
Map3k20	A	T	2: 72,364,624		probably benign	Het
Mroh8	A	G	2: 157,233,205	V457A	probably benign	Het
Mrpl40	T	A	16: 18,875,409		probably null	Het
Ms4a10	C	T	19: 10,964,108	V166I	probably benign	Het
Mycl	A	G	4: 123,000,307	D300G	probably damaging	Het
Naca	T	A	10: 128,043,397		probably benign	Het
Ncoa4	T	C	14: 32,173,434	S172P	probably damaging	Het
Nfatc3	T	C	8: 106,083,854	F421L	possibly damaging	Het
Nucb1	C	A	7: 45,495,225	K301N	probably benign	Het
Olfr1451	T	A	19: 12,999,451	I155N	possibly damaging	Het
Olfr366	A	G	2: 37,219,954	H155R	probably damaging	Het
Olfr629	A	T	7: 103,741,036	M68K	probably benign	Het
Panx1	A	T	9: 15,010,045	V178E	possibly damaging	Het
Pkd1l3	G	A	8: 109,640,770	V1210I	probably damaging	Het
Polr2a	A	T	11: 69,747,213	H143Q	possibly damaging	Het
Prdm12	G	A	2: 31,654,174	R263H	probably damaging	Het
Prkdc	A	C	16: 15,731,566	K1998T	probably damaging	Het
Rab11fip1	A	T	8: 27,153,023	S583T	probably damaging	Het
Rnf157	T	A	11: 116,347,095	T567S	probably benign	Het
Rp1	T	C	1: 4,347,694	K1065R	probably damaging	Het
Rp1	A	G	1: 4,348,537	I784T	probably benign	Het
Rps10	A	C	17: 27,631,208	F150V	probably benign	Het
Rrp12	A	T	19: 41,882,200	F499I	probably damaging	Het
Sez6l2	G	A	7: 126,963,363	R604H	probably damaging	Het
Slc25a21	G	T	12: 56,858,079	Q57K	probably benign	Het
Slc27a2	A	G	2: 126,553,314	T54A	possibly damaging	Het
Slc9a9	T	A	9: 95,228,958	S610T	probably benign	Het
Smc1b	A	T	15: 85,086,134	S973T	probably benign	Het
Smc6	G	A	12: 11,279,733	S164N	possibly damaging	Het
Sp1	A	G	15: 102,407,879	T32A	possibly damaging	Het
Spen	T	C	4: 141,475,635	I1894V	probably benign	Het
Spen	T	C	4: 141,475,700	K1872R	possibly damaging	Het
Stab1	C	A	14: 31,151,584		probably benign	Het
Taar7d	T	G	10: 24,028,204	F328C	probably damaging	Het
Ticam1	A	T	17: 56,271,113	S327R	probably benign	Het
Tmem248	C	T	5: 130,229,454		probably benign	Het
Tom1	T	C	8: 75,054,631	S83P	probably damaging	Het
Txk	T	A	5: 72,699,110	Y446F	probably damaging	Het
Ubap1l	T	A	9: 65,371,955	C179S	probably benign	Het
Utrn	T	C	10: 12,455,441	E474G	possibly damaging	Het
Vmn2r14	T	C	5: 109,215,996	M685V	probably benign	Het
Vmn2r7	A	T	3: 64,716,460	Y146*	probably null	Het
Wdr1	G	A	5: 38,540,562	T220M	probably damaging	Het
Xpo7	T	C	14: 70,678,142	D726G	probably damaging	Het
Zbtb14	C	G	17: 69,387,764	I152M	probably benign	Het
Zbtb3	A	G	19: 8,803,407	D128G	probably damaging	Het
Zfp462	T	A	4: 55,007,667	D35E	probably damaging	Het
Zfp467	A	G	6: 48,438,687	S344P	possibly damaging	Het
Zfpm1	A	T	8: 122,307,546	D73V	possibly damaging	Het

Other mutations in Hmcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Hmcn2	APN	2	31343096	missense	probably damaging	1.00
IGL00966:Hmcn2	APN	2	31428994	missense	probably damaging	0.97
IGL00973:Hmcn2	APN	2	31383821	intron	probably benign
IGL01364:Hmcn2	APN	2	31361814	nonsense	probably null
IGL01486:Hmcn2	APN	2	31336621	missense	probably damaging	1.00
IGL01530:Hmcn2	APN	2	31354264	missense	possibly damaging	0.85
IGL01550:Hmcn2	APN	2	31424252	missense	possibly damaging	0.84
IGL01710:Hmcn2	APN	2	31343102	missense	probably damaging	1.00
IGL01764:Hmcn2	APN	2	31405630	missense	possibly damaging	0.93
IGL01924:Hmcn2	APN	2	31398917	missense	probably benign	0.00
IGL02003:Hmcn2	APN	2	31428982	missense	possibly damaging	0.90
IGL02117:Hmcn2	APN	2	31457173	missense	possibly damaging	0.75
IGL02205:Hmcn2	APN	2	31400127	missense	probably damaging	1.00
IGL02273:Hmcn2	APN	2	31424377	missense	probably benign	0.06
IGL02313:Hmcn2	APN	2	31453605	missense	possibly damaging	0.68
IGL02326:Hmcn2	APN	2	31450952	missense	probably damaging	0.97
IGL02486:Hmcn2	APN	2	31420095	missense	probably damaging	0.98
IGL02551:Hmcn2	APN	2	31454811	missense	possibly damaging	0.83
IGL02695:Hmcn2	APN	2	31408973	missense	possibly damaging	0.87
IGL02725:Hmcn2	APN	2	31405528	missense	probably damaging	1.00
IGL02792:Hmcn2	APN	2	31346590	missense	probably damaging	1.00
IGL02882:Hmcn2	APN	2	31413367	nonsense	probably null
IGL03003:Hmcn2	APN	2	31433486	missense	probably damaging	0.98
IGL03067:Hmcn2	APN	2	31346630	missense	probably damaging	1.00
IGL03137:Hmcn2	APN	2	31362230	missense	probably damaging	0.98
IGL03220:Hmcn2	APN	2	31346621	missense	possibly damaging	0.94
IGL03411:Hmcn2	APN	2	31346637	missense	possibly damaging	0.83
PIT4544001:Hmcn2	UTSW	2	31428250	missense	probably damaging	0.98
R0044:Hmcn2	UTSW	2	31412508	missense	probably damaging	0.98
R0044:Hmcn2	UTSW	2	31412508	missense	probably damaging	0.98
R0048:Hmcn2	UTSW	2	31428237	missense	possibly damaging	0.92
R0048:Hmcn2	UTSW	2	31428237	missense	possibly damaging	0.92
R0078:Hmcn2	UTSW	2	31388344	missense	probably damaging	1.00
R0090:Hmcn2	UTSW	2	31426198	missense	probably damaging	1.00
R0173:Hmcn2	UTSW	2	31438331	critical splice donor site	probably null
R0257:Hmcn2	UTSW	2	31369164	splice site	probably benign
R0266:Hmcn2	UTSW	2	31394827	missense	probably benign	0.03
R0266:Hmcn2	UTSW	2	31445353	splice site	probably benign
R0326:Hmcn2	UTSW	2	31423225	nonsense	probably null
R0366:Hmcn2	UTSW	2	31424206	missense	possibly damaging	0.88
R0400:Hmcn2	UTSW	2	31400129	missense	probably damaging	0.98
R0412:Hmcn2	UTSW	2	31388247	missense	probably damaging	0.98
R0436:Hmcn2	UTSW	2	31405612	missense	probably damaging	1.00
R0457:Hmcn2	UTSW	2	31415284	critical splice donor site	probably null
R0487:Hmcn2	UTSW	2	31386677	missense	possibly damaging	0.60
R0568:Hmcn2	UTSW	2	31415236	missense	probably benign	0.02
R0755:Hmcn2	UTSW	2	31453160	missense	probably damaging	0.99
R0811:Hmcn2	UTSW	2	31420371	missense	probably damaging	0.99
R0812:Hmcn2	UTSW	2	31420371	missense	probably damaging	0.99
R0964:Hmcn2	UTSW	2	31391511	missense	probably benign	0.23
R0988:Hmcn2	UTSW	2	31335451	missense	probably damaging	1.00
R1484:Hmcn2	UTSW	2	31346495	missense	probably damaging	1.00
R1535:Hmcn2	UTSW	2	31420407	missense	possibly damaging	0.91
R1574:Hmcn2	UTSW	2	31404887	missense	probably damaging	0.97
R1574:Hmcn2	UTSW	2	31404887	missense	probably damaging	0.97
R1600:Hmcn2	UTSW	2	31430787	missense	probably damaging	0.98
R1623:Hmcn2	UTSW	2	31458039	missense	possibly damaging	0.84
R1692:Hmcn2	UTSW	2	31450844	missense	possibly damaging	0.47
R1719:Hmcn2	UTSW	2	31354721	missense	probably damaging	1.00
R1747:Hmcn2	UTSW	2	31457985	missense	probably benign	0.00
R1756:Hmcn2	UTSW	2	31396120	missense	probably damaging	0.99
R1763:Hmcn2	UTSW	2	31314590	missense	probably damaging	1.00
R1815:Hmcn2	UTSW	2	31393043	missense	probably damaging	0.97
R1822:Hmcn2	UTSW	2	31383692	missense	probably damaging	0.99
R1858:Hmcn2	UTSW	2	31415283	critical splice donor site	probably null
R1895:Hmcn2	UTSW	2	31405635	missense	probably damaging	0.99
R1908:Hmcn2	UTSW	2	31411910	critical splice donor site	probably null
R1946:Hmcn2	UTSW	2	31405635	missense	probably damaging	0.99
R1966:Hmcn2	UTSW	2	31389329	missense	probably damaging	0.99
R2007:Hmcn2	UTSW	2	31438255	missense	possibly damaging	0.91
R2050:Hmcn2	UTSW	2	31335436	missense	probably damaging	1.00
R2055:Hmcn2	UTSW	2	31378282	missense	probably benign	0.33
R2097:Hmcn2	UTSW	2	31380419	missense	probably damaging	1.00
R2145:Hmcn2	UTSW	2	31333931	splice site	probably benign
R2155:Hmcn2	UTSW	2	31460349	missense	possibly damaging	0.68
R2170:Hmcn2	UTSW	2	31380281	missense	probably benign	0.08
R2188:Hmcn2	UTSW	2	31419935	missense	probably benign	0.14
R2208:Hmcn2	UTSW	2	31380297	missense	probably damaging	1.00
R2217:Hmcn2	UTSW	2	31350574	missense	probably benign	0.02
R2407:Hmcn2	UTSW	2	31335412	critical splice acceptor site	probably null
R2764:Hmcn2	UTSW	2	31388298	missense	probably damaging	0.98
R2913:Hmcn2	UTSW	2	31460210	missense	possibly damaging	0.68
R2986:Hmcn2	UTSW	2	31360998	missense	probably damaging	1.00
R3157:Hmcn2	UTSW	2	31400255	missense	probably damaging	0.99
R3406:Hmcn2	UTSW	2	31433272	splice site	probably benign
R3429:Hmcn2	UTSW	2	31409144	missense	possibly damaging	0.87
R3737:Hmcn2	UTSW	2	31336612	nonsense	probably null
R3739:Hmcn2	UTSW	2	31336612	nonsense	probably null
R3771:Hmcn2	UTSW	2	31360896	missense	probably damaging	0.99
R3772:Hmcn2	UTSW	2	31360896	missense	probably damaging	0.99
R3773:Hmcn2	UTSW	2	31360896	missense	probably damaging	0.99
R3804:Hmcn2	UTSW	2	31352885	splice site	probably null
R3837:Hmcn2	UTSW	2	31413407	missense	probably damaging	0.99
R3838:Hmcn2	UTSW	2	31413407	missense	probably damaging	0.99
R3846:Hmcn2	UTSW	2	31430350	missense	possibly damaging	0.51
R3925:Hmcn2	UTSW	2	31453157	missense	probably benign	0.00
R3934:Hmcn2	UTSW	2	31380484	critical splice donor site	probably null
R3946:Hmcn2	UTSW	2	31382394	missense	possibly damaging	0.91
R4035:Hmcn2	UTSW	2	31336612	nonsense	probably null
R4057:Hmcn2	UTSW	2	31400238	missense	probably damaging	1.00
R4583:Hmcn2	UTSW	2	31413265	missense	possibly damaging	0.84
R4623:Hmcn2	UTSW	2	31396710	missense	probably damaging	1.00
R4647:Hmcn2	UTSW	2	31399019	missense	possibly damaging	0.82
R4668:Hmcn2	UTSW	2	31435792	missense	probably benign	0.40
R4669:Hmcn2	UTSW	2	31435792	missense	probably benign	0.40
R4687:Hmcn2	UTSW	2	31438285	missense	probably benign	0.14
R4735:Hmcn2	UTSW	2	31383775	missense	probably benign	0.06
R4772:Hmcn2	UTSW	2	31445314	missense	probably benign	0.02
R4866:Hmcn2	UTSW	2	31389391	missense	possibly damaging	0.88
R4916:Hmcn2	UTSW	2	31360980	missense	probably damaging	0.98
R4943:Hmcn2	UTSW	2	31335492	missense	probably damaging	1.00
R4967:Hmcn2	UTSW	2	31354164	critical splice acceptor site	probably null
R4973:Hmcn2	UTSW	2	31344096	missense	probably benign	0.15
R4975:Hmcn2	UTSW	2	31393025	missense	possibly damaging	0.88
R4994:Hmcn2	UTSW	2	31458055	critical splice donor site	probably null
R4997:Hmcn2	UTSW	2	31401708	missense	probably damaging	1.00
R5045:Hmcn2	UTSW	2	31409081	missense	probably damaging	1.00
R5117:Hmcn2	UTSW	2	31458049	missense	possibly damaging	0.95
R5151:Hmcn2	UTSW	2	31389443	missense	probably null
R5232:Hmcn2	UTSW	2	31457748	missense	probably damaging	0.99
R5237:Hmcn2	UTSW	2	31414716	missense	probably benign	0.01
R5288:Hmcn2	UTSW	2	31460321	missense	probably benign	0.11
R5375:Hmcn2	UTSW	2	31430441	missense	possibly damaging	0.92
R5379:Hmcn2	UTSW	2	31409011	missense	probably damaging	0.99
R5385:Hmcn2	UTSW	2	31460321	missense	probably benign	0.11
R5412:Hmcn2	UTSW	2	31346617	missense	possibly damaging	0.77
R5426:Hmcn2	UTSW	2	31336544	missense	possibly damaging	0.95
R5434:Hmcn2	UTSW	2	31420363	missense	probably damaging	1.00
R5441:Hmcn2	UTSW	2	31406416	missense	possibly damaging	0.82
R5484:Hmcn2	UTSW	2	31393054	nonsense	probably null
R5492:Hmcn2	UTSW	2	31420306	missense	probably benign	0.03
R5572:Hmcn2	UTSW	2	31414525	critical splice acceptor site	probably null
R5572:Hmcn2	UTSW	2	31414526	critical splice acceptor site	probably null
R5591:Hmcn2	UTSW	2	31344047	missense	probably damaging	1.00
R5614:Hmcn2	UTSW	2	31428303	missense	probably damaging	0.99
R5634:Hmcn2	UTSW	2	31333881	missense	probably damaging	1.00
R5645:Hmcn2	UTSW	2	31420812	missense	possibly damaging	0.92
R5716:Hmcn2	UTSW	2	31336567	missense	probably damaging	1.00
R5716:Hmcn2	UTSW	2	31458738	missense	possibly damaging	0.68
R5725:Hmcn2	UTSW	2	31383815	critical splice donor site	probably null
R5760:Hmcn2	UTSW	2	31414568	missense	possibly damaging	0.91
R5774:Hmcn2	UTSW	2	31409135	missense	possibly damaging	0.94
R5838:Hmcn2	UTSW	2	31457807	missense	probably damaging	0.99
R5899:Hmcn2	UTSW	2	31354673	missense	possibly damaging	0.93
R5916:Hmcn2	UTSW	2	31396139	missense	probably damaging	1.00
R5973:Hmcn2	UTSW	2	31420323	missense	probably damaging	0.99
R6002:Hmcn2	UTSW	2	31420309	missense	probably damaging	0.99
R6018:Hmcn2	UTSW	2	31370792	missense	probably benign	0.13
R6063:Hmcn2	UTSW	2	31434713	missense	probably benign	0.06
R6161:Hmcn2	UTSW	2	31356254	missense	probably benign
R6166:Hmcn2	UTSW	2	31369262	missense	probably damaging	1.00
R6177:Hmcn2	UTSW	2	31420106	nonsense	probably null
R6191:Hmcn2	UTSW	2	31458746	missense	probably damaging	0.99
R6195:Hmcn2	UTSW	2	31384115	missense	probably damaging	0.96
R6273:Hmcn2	UTSW	2	31411834	missense	probably damaging	0.99
R6293:Hmcn2	UTSW	2	31335451	missense	probably damaging	1.00
R6349:Hmcn2	UTSW	2	31388373	missense	probably damaging	1.00
R6395:Hmcn2	UTSW	2	31369257	missense	probably damaging	1.00
R6448:Hmcn2	UTSW	2	31420820	missense	probably benign	0.02
R6450:Hmcn2	UTSW	2	31361800	missense	probably benign	0.11
R6479:Hmcn2	UTSW	2	31425468	missense	probably damaging	0.99
R6502:Hmcn2	UTSW	2	31382478	missense	probably damaging	0.99
R6511:Hmcn2	UTSW	2	31356342	missense	possibly damaging	0.79
R6537:Hmcn2	UTSW	2	31415268	missense	probably benign	0.00
R6880:Hmcn2	UTSW	2	31343056	missense	probably damaging	1.00
R6924:Hmcn2	UTSW	2	31350505	splice site	probably null
R6971:Hmcn2	UTSW	2	31432321	missense	probably benign	0.02
R7057:Hmcn2	UTSW	2	31422649	missense	probably damaging	0.99
R7141:Hmcn2	UTSW	2	31360896	missense	probably benign	0.17
R7268:Hmcn2	UTSW	2	31457966	missense	possibly damaging	0.48
R7307:Hmcn2	UTSW	2	31343081	missense	probably damaging	0.96
R7322:Hmcn2	UTSW	2	31459081	missense	probably damaging	0.99
R7334:Hmcn2	UTSW	2	31435794	missense	probably damaging	0.98
R7334:Hmcn2	UTSW	2	31453135	missense	possibly damaging	0.82
R7335:Hmcn2	UTSW	2	31392157	missense	possibly damaging	0.88
R7358:Hmcn2	UTSW	2	31416812	missense	probably damaging	1.00
R7359:Hmcn2	UTSW	2	31388383	missense	probably benign	0.13
R7488:Hmcn2	UTSW	2	31420830	missense	probably damaging	1.00
R7498:Hmcn2	UTSW	2	31383475	splice site	probably null
R7560:Hmcn2	UTSW	2	31457173	missense	probably benign
R7566:Hmcn2	UTSW	2	31454857	missense	probably damaging	0.96
R7570:Hmcn2	UTSW	2	31423911	missense	probably benign
R7574:Hmcn2	UTSW	2	31455519	missense	possibly damaging	0.68
R7599:Hmcn2	UTSW	2	31356286	missense	possibly damaging	0.93
R7654:Hmcn2	UTSW	2	31346569	missense	probably benign	0.00
R7662:Hmcn2	UTSW	2	31382345	missense	probably benign	0.01
R7666:Hmcn2	UTSW	2	31380233	missense	probably damaging	1.00
R7698:Hmcn2	UTSW	2	31423153	missense	probably damaging	0.98
R7722:Hmcn2	UTSW	2	31382500	nonsense	probably null
R7739:Hmcn2	UTSW	2	31458026	missense	possibly damaging	0.48
R7749:Hmcn2	UTSW	2	31453033	splice site	probably null
R7828:Hmcn2	UTSW	2	31405875	missense	possibly damaging	0.95
R7912:Hmcn2	UTSW	2	31420299	missense	probably benign	0.00
R7978:Hmcn2	UTSW	2	31389347	missense	probably benign	0.40
R8075:Hmcn2	UTSW	2	31389391	missense	possibly damaging	0.88
R8088:Hmcn2	UTSW	2	31426903	nonsense	probably null
R8101:Hmcn2	UTSW	2	31350070	missense	probably benign	0.08
R8124:Hmcn2	UTSW	2	31400124	missense	probably benign	0.01
R8145:Hmcn2	UTSW	2	31423105	missense	probably damaging	1.00
R8230:Hmcn2	UTSW	2	31344473	missense	possibly damaging	0.91
R8267:Hmcn2	UTSW	2	31459179	missense	probably benign
R8277:Hmcn2	UTSW	2	31369177	missense	probably benign	0.16
R8307:Hmcn2	UTSW	2	31396115	missense	probably damaging	0.99
R8353:Hmcn2	UTSW	2	31385341	splice site	probably null
R8415:Hmcn2	UTSW	2	31391076	missense	probably benign	0.15
R8416:Hmcn2	UTSW	2	31391076	missense	probably benign	0.15
R8437:Hmcn2	UTSW	2	31391076	missense	probably benign	0.15
R8438:Hmcn2	UTSW	2	31391076	missense	probably benign	0.15
R8440:Hmcn2	UTSW	2	31391076	missense	probably benign	0.15
R8442:Hmcn2	UTSW	2	31391076	missense	probably benign	0.15
R8497:Hmcn2	UTSW	2	31423345	missense	possibly damaging	0.92
R8520:Hmcn2	UTSW	2	31354714	missense	probably damaging	1.00
R8530:Hmcn2	UTSW	2	31391076	missense	probably benign	0.15
R8537:Hmcn2	UTSW	2	31391076	missense	probably benign	0.15
R8550:Hmcn2	UTSW	2	31350642	critical splice donor site	probably null
R8721:Hmcn2	UTSW	2	31425177	missense	probably damaging	1.00
R8795:Hmcn2	UTSW	2	31425381	missense	probably benign	0.01
R8802:Hmcn2	UTSW	2	31411276	missense	probably damaging	0.97
R8804:Hmcn2	UTSW	2	31425381	missense	probably benign	0.01
R8805:Hmcn2	UTSW	2	31425381	missense	probably benign	0.01
R8904:Hmcn2	UTSW	2	31433392	missense	possibly damaging	0.92
R8937:Hmcn2	UTSW	2	31314415	start codon destroyed	probably benign	0.01
R8947:Hmcn2	UTSW	2	31388208	missense	probably damaging	0.99
R8948:Hmcn2	UTSW	2	31354729	missense	probably damaging	1.00
R8950:Hmcn2	UTSW	2	31354729	missense	probably damaging	1.00
R8959:Hmcn2	UTSW	2	31392147	missense	probably damaging	1.00
R9025:Hmcn2	UTSW	2	31457955	missense	possibly damaging	0.56
R9039:Hmcn2	UTSW	2	31354634	missense	probably damaging	0.97
R9068:Hmcn2	UTSW	2	31413673	missense	probably benign	0.01
R9161:Hmcn2	UTSW	2	31352746	missense	probably benign	0.02
R9178:Hmcn2	UTSW	2	31391509	missense	possibly damaging	0.77
R9204:Hmcn2	UTSW	2	31388365	missense	probably damaging	0.98
R9317:Hmcn2	UTSW	2	31460316	missense	possibly damaging	0.91
R9341:Hmcn2	UTSW	2	31389347	missense	probably benign	0.40
R9343:Hmcn2	UTSW	2	31389347	missense	probably benign	0.40
R9355:Hmcn2	UTSW	2	31438290	missense	probably benign	0.18
R9371:Hmcn2	UTSW	2	31411905	missense	probably damaging	1.00
R9450:Hmcn2	UTSW	2	31426833	missense	probably damaging	1.00
R9477:Hmcn2	UTSW	2	31396019	critical splice acceptor site	probably null
R9483:Hmcn2	UTSW	2	31430363	missense
R9536:Hmcn2	UTSW	2	31445118	missense	possibly damaging	0.86
R9580:Hmcn2	UTSW	2	31404863	missense	probably benign	0.16
R9593:Hmcn2	UTSW	2	31354730	missense	probably damaging	0.99
R9649:Hmcn2	UTSW	2	31402438	missense	possibly damaging	0.95
R9706:Hmcn2	UTSW	2	31415267	missense	probably benign	0.00
X0066:Hmcn2	UTSW	2	31454811	missense	possibly damaging	0.83
X0067:Hmcn2	UTSW	2	31405867	missense	possibly damaging	0.82
Z1088:Hmcn2	UTSW	2	31381067	missense	probably benign	0.01
Z1088:Hmcn2	UTSW	2	31459064	splice site	probably null
Z1176:Hmcn2	UTSW	2	31344029	missense	possibly damaging	0.95
Z1176:Hmcn2	UTSW	2	31425416	missense	probably damaging	1.00
Z1176:Hmcn2	UTSW	2	31429091	missense	probably damaging	0.97
Z1177:Hmcn2	UTSW	2	31344506	missense	probably damaging	1.00
Z1177:Hmcn2	UTSW	2	31426824	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGGAAAGTTTGAGTCACGCCG -3'
(R):5'- TTATTGCTGTGCGCCAGGCAAG -3'

Sequencing Primer
(F):5'- TGGGCATTAGGGACCGC -3'
(R):5'- TCGTGGAAAGGCACCAGC -3'

Posted On

2014-12-01