Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Samhd1'

31574

Institutional Source

Beutler Lab

Gene Symbol

Samhd1

Ensembl Gene

ENSMUSG00000027639

Gene Name

SAM domain and HD domain, 1

Synonyms

E330031J07Rik

MMRRC Submission

038596-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0390 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156939454-156977016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156956151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 347 (Y347C)

Ref Sequence

ENSEMBL: ENSMUSP00000105176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057725] [ENSMUST00000088523] [ENSMUST00000109549] [ENSMUST00000123932]

AlphaFold

Q60710

Predicted Effect

probably damaging
Transcript: ENSMUST00000057725
AA Change: Y347C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: Y347C

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	1e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000088523
AA Change: Y347C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: Y347C

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	2e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109549
AA Change: Y347C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639
AA Change: Y347C

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	1e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123932

SMART Domains

Protein: ENSMUSP00000124599
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
SAM	43	112	1.51e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139149

Predicted Effect

unknown
Transcript: ENSMUST00000139263
AA Change: Y326C

SMART Domains

Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: Y326C

Domain	Start	End	E-Value	Type
low complexity region	29	45	N/A	INTRINSIC
SAM	54	122	4.4e-14	SMART
HDc	172	337	1.89e-9	SMART
Blast:HDc	378	417	2e-16	BLAST
low complexity region	486	497	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160213

Meta Mutation Damage Score

0.9748

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to infection with pseudotyped HIV-1. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ap2m1	T	C	16: 20,359,849 (GRCm39)	M183T	probably damaging	Het
Apob	A	T	12: 8,038,678 (GRCm39)	I364F	probably damaging	Het
Arl6	A	T	16: 59,442,784 (GRCm39)		probably benign	Het
Cand2	A	G	6: 115,751,614 (GRCm39)	M15V	possibly damaging	Het
Cbl	A	G	9: 44,112,302 (GRCm39)	F131S	probably damaging	Het
Ccdc74a	A	G	16: 17,468,340 (GRCm39)	S321G	probably benign	Het
Cdc14b	T	C	13: 64,358,006 (GRCm39)		probably benign	Het
Cep152	T	C	2: 125,418,789 (GRCm39)		probably benign	Het
Cep290	A	G	10: 100,344,620 (GRCm39)	E479G	probably benign	Het
Chrm2	T	G	6: 36,501,046 (GRCm39)	I301R	probably benign	Het
Clec2e	A	G	6: 129,070,431 (GRCm39)	W197R	probably damaging	Het
Cnot10	G	T	9: 114,458,218 (GRCm39)	S96*	probably null	Het
Col19a1	A	G	1: 24,328,736 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,027,466 (GRCm39)		probably benign	Het
Cthrc1	A	T	15: 38,950,159 (GRCm39)	*172L	probably null	Het
Cul9	A	T	17: 46,839,515 (GRCm39)	I821N	probably benign	Het
Daam1	G	C	12: 72,022,078 (GRCm39)		probably benign	Het
Dhx58	A	T	11: 100,590,090 (GRCm39)	I398N	probably damaging	Het
Dip2b	T	A	15: 100,091,794 (GRCm39)	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,320,454 (GRCm39)	D50G	probably damaging	Het
Dmxl1	C	A	18: 50,012,429 (GRCm39)	Q1529K	probably benign	Het
Dtna	C	T	18: 23,730,558 (GRCm39)	P315L	probably damaging	Het
Ep300	T	C	15: 81,524,317 (GRCm39)	S1382P	unknown	Het
Fat2	A	T	11: 55,201,603 (GRCm39)	N490K	probably damaging	Het
Flg2	T	A	3: 93,107,662 (GRCm39)		probably benign	Het
Gpatch1	T	C	7: 34,980,806 (GRCm39)		probably benign	Het
Grin2a	C	A	16: 9,397,449 (GRCm39)	K879N	possibly damaging	Het
Hacd3	A	C	9: 64,908,304 (GRCm39)	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,210,245 (GRCm39)	C197G	probably damaging	Het
Hsd17b12	T	C	2: 93,945,335 (GRCm39)		probably benign	Het
Hsd3b1	A	T	3: 98,760,355 (GRCm39)	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,264,093 (GRCm39)		probably null	Het
Igf2bp2	A	G	16: 21,900,551 (GRCm39)	F129L	possibly damaging	Het
Kirrel3	T	A	9: 34,931,459 (GRCm39)	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,411 (GRCm39)	I204T	probably damaging	Het
Kpna6	A	T	4: 129,551,597 (GRCm39)	S65R	possibly damaging	Het
Lama3	A	T	18: 12,540,620 (GRCm39)	D308V	probably benign	Het
Larp4b	T	A	13: 9,208,143 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175 (GRCm39)	T11S	probably benign	Het
Man1c1	A	G	4: 134,305,626 (GRCm39)	L366P	probably damaging	Het
Mef2a	A	G	7: 66,901,472 (GRCm39)	M100T	probably damaging	Het
Mettl13	G	A	1: 162,366,458 (GRCm39)	H474Y	possibly damaging	Het
Minar2	T	A	18: 59,208,760 (GRCm39)	V136E	probably damaging	Het
Mmp3	A	G	9: 7,451,320 (GRCm39)	D352G	probably benign	Het
Mns1	T	C	9: 72,360,086 (GRCm39)	I412T	probably damaging	Het
Mon2	T	C	10: 122,842,926 (GRCm39)	D1501G	probably null	Het
Mylk	G	T	16: 34,695,990 (GRCm39)	G242W	probably damaging	Het
Nav1	T	C	1: 135,377,704 (GRCm39)	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,362,310 (GRCm39)	S2P	probably damaging	Het
Nek3	A	T	8: 22,618,745 (GRCm39)		probably benign	Het
Nfrkb	A	G	9: 31,300,193 (GRCm39)		probably benign	Het
Nlrp4d	T	C	7: 10,122,705 (GRCm39)	D53G	probably benign	Het
Nol8	T	C	13: 49,815,628 (GRCm39)	S561P	probably damaging	Het
Nuf2	A	C	1: 169,352,866 (GRCm39)		probably benign	Het
Odad3	T	A	9: 21,903,004 (GRCm39)	H442L	probably benign	Het
Ofcc1	T	A	13: 40,168,789 (GRCm39)	D866V	possibly damaging	Het
Optn	A	G	2: 5,051,006 (GRCm39)	L125P	probably benign	Het
Or5k3	A	G	16: 58,969,662 (GRCm39)	I150V	probably benign	Het
Otoa	T	A	7: 120,730,564 (GRCm39)	F588Y	probably benign	Het
Pappa	T	A	4: 65,269,850 (GRCm39)		probably null	Het
Pde5a	T	G	3: 122,629,232 (GRCm39)	C635W	probably damaging	Het
Pdgfb	A	T	15: 79,887,620 (GRCm39)		probably null	Het
Pih1d2	T	A	9: 50,532,346 (GRCm39)	C135S	probably damaging	Het
Plcg1	G	T	2: 160,594,286 (GRCm39)	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,567,619 (GRCm39)		probably benign	Het
Pramel26	T	A	4: 143,538,269 (GRCm39)	D234V	probably benign	Het
Prdm10	G	A	9: 31,260,564 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,159,930 (GRCm39)		probably null	Het
Prss56	T	G	1: 87,112,452 (GRCm39)		probably null	Het
Prtg	A	G	9: 72,752,240 (GRCm39)	K209E	probably benign	Het
Ptprc	G	A	1: 138,050,313 (GRCm39)	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 28,845,285 (GRCm39)	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,318,858 (GRCm39)	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,763,197 (GRCm39)	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,415,987 (GRCm39)	V500A	probably damaging	Het
Rgs6	A	G	12: 83,180,451 (GRCm39)	K434R	probably damaging	Het
Rims1	C	T	1: 22,635,607 (GRCm39)	A125T	possibly damaging	Het
Robo3	A	G	9: 37,333,473 (GRCm39)	V746A	probably benign	Het
Rtl1	C	T	12: 109,557,820 (GRCm39)	E1340K	unknown	Het
Sacs	G	A	14: 61,443,089 (GRCm39)	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,103,402 (GRCm39)	P19S	probably benign	Het
Sema6d	T	A	2: 124,500,410 (GRCm39)	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243 (GRCm39)	A4T	probably benign	Het
Skint9	C	A	4: 112,246,376 (GRCm39)	L245F	probably benign	Het
Slc35f5	T	C	1: 125,512,832 (GRCm39)	L372P	probably damaging	Het
Smc1b	A	T	15: 84,950,478 (GRCm39)	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,785,138 (GRCm39)		probably benign	Het
Sptlc1	T	C	13: 53,491,648 (GRCm39)	D417G	probably benign	Het
Sv2c	T	C	13: 96,225,216 (GRCm39)	N31S	probably benign	Het
Tjp1	T	C	7: 64,964,738 (GRCm39)	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442 (GRCm38)	T1221A	probably benign	Het
Tph2	T	C	10: 115,010,014 (GRCm39)	D182G	probably damaging	Het
Traf6	C	T	2: 101,518,933 (GRCm39)	Q141*	probably null	Het
Ttn	T	C	2: 76,587,275 (GRCm39)	D21574G	probably damaging	Het
Uba2	T	A	7: 33,850,446 (GRCm39)	N367I	probably benign	Het
Ube2b	T	C	11: 51,879,429 (GRCm39)		probably benign	Het
Ubr5	G	T	15: 38,030,916 (GRCm39)	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,612,007 (GRCm39)	H301L	probably benign	Het
Upf2	T	A	2: 6,023,705 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,585,804 (GRCm39)	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,800,140 (GRCm39)	D734G	probably damaging	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vwf	T	A	6: 125,603,324 (GRCm39)	Y891*	probably null	Het
Wwox	C	T	8: 115,433,018 (GRCm39)	T228I	probably benign	Het
Zer1	C	T	2: 29,998,225 (GRCm39)		probably benign	Het
Zfp180	C	T	7: 23,804,132 (GRCm39)	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,605,487 (GRCm39)	Y279N	probably benign	Het

Other mutations in Samhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Samhd1	APN	2	156,962,468 (GRCm39)	missense	probably damaging	1.00
IGL00903:Samhd1	APN	2	156,949,343 (GRCm39)	splice site	probably benign
IGL01313:Samhd1	APN	2	156,958,321 (GRCm39)	missense	probably damaging	1.00
IGL01775:Samhd1	APN	2	156,956,250 (GRCm39)	splice site	probably benign
IGL02245:Samhd1	APN	2	156,952,475 (GRCm39)	missense	possibly damaging	0.46
IGL02314:Samhd1	APN	2	156,976,948 (GRCm39)	missense	probably damaging	0.98
R0487:Samhd1	UTSW	2	156,952,535 (GRCm39)	missense	probably damaging	1.00
R0842:Samhd1	UTSW	2	156,965,251 (GRCm39)	missense	probably damaging	0.99
R1199:Samhd1	UTSW	2	156,951,381 (GRCm39)	missense	probably damaging	0.99
R1681:Samhd1	UTSW	2	156,943,652 (GRCm39)	missense	probably benign	0.45
R1775:Samhd1	UTSW	2	156,949,467 (GRCm39)	missense	probably benign	0.16
R2859:Samhd1	UTSW	2	156,948,149 (GRCm39)	critical splice donor site	probably null
R2903:Samhd1	UTSW	2	156,965,335 (GRCm39)	missense	possibly damaging	0.95
R2905:Samhd1	UTSW	2	156,965,335 (GRCm39)	missense	possibly damaging	0.95
R3983:Samhd1	UTSW	2	156,965,369 (GRCm39)	missense	possibly damaging	0.81
R4432:Samhd1	UTSW	2	156,946,813 (GRCm39)	missense	probably damaging	0.99
R4576:Samhd1	UTSW	2	156,943,670 (GRCm39)	missense	probably damaging	1.00
R5283:Samhd1	UTSW	2	156,951,412 (GRCm39)	missense	possibly damaging	0.70
R5741:Samhd1	UTSW	2	156,954,751 (GRCm39)	missense	probably benign
R6021:Samhd1	UTSW	2	156,962,474 (GRCm39)	critical splice acceptor site	probably null
R6518:Samhd1	UTSW	2	156,956,217 (GRCm39)	missense	possibly damaging	0.62
R6818:Samhd1	UTSW	2	156,949,417 (GRCm39)	missense	probably benign	0.04
R6924:Samhd1	UTSW	2	156,951,403 (GRCm39)	missense	probably benign	0.00
R7307:Samhd1	UTSW	2	156,976,940 (GRCm39)	missense	probably benign	0.27
R7337:Samhd1	UTSW	2	156,948,164 (GRCm39)	missense	probably damaging	0.99
R7596:Samhd1	UTSW	2	156,943,754 (GRCm39)	missense	probably damaging	1.00
R7892:Samhd1	UTSW	2	156,958,415 (GRCm39)	missense	probably damaging	1.00
R8081:Samhd1	UTSW	2	156,943,358 (GRCm39)	nonsense	probably null
R8234:Samhd1	UTSW	2	156,958,270 (GRCm39)	critical splice donor site	probably null
R8400:Samhd1	UTSW	2	156,941,353 (GRCm39)	missense	probably benign	0.19
R8690:Samhd1	UTSW	2	156,971,794 (GRCm39)	missense	probably benign	0.00
R9090:Samhd1	UTSW	2	156,956,205 (GRCm39)	missense	probably damaging	1.00
R9271:Samhd1	UTSW	2	156,956,205 (GRCm39)	missense	probably damaging	1.00
R9765:Samhd1	UTSW	2	156,965,219 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTACTGACGTTCACAGCAACTTG -3'
(R):5'- GCACAGCACATACTTCACCGTTTC -3'

Sequencing Primer
(F):5'- AAGGTCGGCATTTGTTCTCAC -3'
(R):5'- GATCATCTTCTAACTTGAGCGTC -3'

Posted On

2013-04-24