Mutagenetix > Incidental Mutations

Incidental Mutation 'R6537:Hmcn2'

520450

Institutional Source

Beutler Lab

Gene Symbol

Hmcn2

Ensembl Gene

ENSMUSG00000055632

Gene Name

hemicentin 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31314415-31460738 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31415268 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3151 (V3151A)

Ref Sequence

ENSEMBL: ENSMUSP00000109160 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113532
AA Change: V3151A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109160
Gene: ENSMUSG00000055632
AA Change: V3151A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc4	T	C	5: 52,843,556	S224P	probably damaging	Het
Col6a4	G	A	9: 106,067,954	T987M	possibly damaging	Het
Cort	C	T	4: 149,126,624	G8E	probably benign	Het
Ctdp1	G	T	18: 80,449,551	D576E	probably benign	Het
Ctsq	A	T	13: 61,035,326	I334N	probably damaging	Het
Cwc15	A	G	9: 14,501,988	D22G	probably damaging	Het
Dnmt3l	G	A	10: 78,052,064	G136R	probably null	Het
Fam19a2	T	A	10: 123,593,496	M5K	possibly damaging	Het
Fxyd6	A	G	9: 45,390,794	I37V	possibly damaging	Het
Gm10604	A	C	4: 11,980,221	S28A	unknown	Het
Gm43302	A	G	5: 105,290,995	I9T	possibly damaging	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Kyat3	A	G	3: 142,729,812	T282A	probably benign	Het
Lrp6	T	C	6: 134,480,495	E782G	probably benign	Het
Lrrc3b	T	C	14: 15,357,946	Y220C	probably damaging	Het
Macf1	C	T	4: 123,492,725	S1033N	probably damaging	Het
Mdm1	A	G	10: 118,158,576	T452A	probably benign	Het
Nrn1l	G	T	8: 105,894,718	R99L	probably damaging	Het
Pappa	T	A	4: 65,297,282	I1142N	probably damaging	Het
Pcsk1	T	C	13: 75,132,239	F728L	probably damaging	Het
Ptcd3	T	C	6: 71,897,110		probably null	Het
Siglecf	C	T	7: 43,355,999	T461I	probably benign	Het
Slc7a8	C	T	14: 54,735,119	A282T	probably benign	Het
Srcap	T	C	7: 127,542,220	V1724A	probably damaging	Het
Tek	A	G	4: 94,837,324	Q609R	probably benign	Het
Trim45	C	T	3: 100,925,396	A315V	probably benign	Het
Ttbk1	C	T	17: 46,470,310	V446M	probably damaging	Het
Wrap53	T	C	11: 69,563,868	D225G	possibly damaging	Het
Znhit6	A	G	3: 145,594,619	I193V	probably benign	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
R1509:Hmcn2	UTSW	2	31314479	missense	possibly damaging	0.86
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
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	intron	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
X0066:Hmcn2	UTSW	2	31454811	missense	possibly damaging	0.83
X0067:Hmcn2	UTSW	2	31405867	missense	possibly damaging	0.82
Z1088:Hmcn2	UTSW	2	31459064	intron	probably null
Z1088:Hmcn2	UTSW	2	31381067	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATACTGGGCCAAGTCTGCTC -3'
(R):5'- ACCCTCTAGAGTCTGTGAATTTC -3'

Sequencing Primer
(F):5'- TCATTTCCAGGGCCTCAGAGAG -3'
(R):5'- CATTCTTCAAATTCATGAGGCAAG -3'

Posted On

2018-06-06