Incidental Mutation 'IGL01775:Samhd1'
ID 154100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samhd1
Ensembl Gene ENSMUSG00000027639
Gene Name SAM domain and HD domain, 1
Synonyms E330031J07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01775
Quality Score
Status
Chromosome 2
Chromosomal Location 156939454-156977016 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 156956250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000057725] [ENSMUST00000088523] [ENSMUST00000109549] [ENSMUST00000123932]
AlphaFold Q60710
Predicted Effect probably benign
Transcript: ENSMUST00000057725
SMART Domains Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639

DomainStartEndE-ValueType
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: ENSMUST00000088523
SMART Domains Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000109549
SMART Domains Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 18 34 N/A INTRINSIC
SAM 43 112 1.51e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139149
Predicted Effect probably benign
Transcript: ENSMUST00000139263
SMART Domains Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A T 11: 84,361,963 (GRCm39) L333Q probably damaging Het
Ablim3 A T 18: 61,949,989 (GRCm39) probably benign Het
Acsl6 T C 11: 54,236,826 (GRCm39) probably benign Het
Adra1b T A 11: 43,726,128 (GRCm39) D263V probably damaging Het
Aicda G A 6: 122,538,012 (GRCm39) V57M probably damaging Het
C2cd3 T C 7: 100,092,638 (GRCm39) W494R probably damaging Het
Ccnb1 T C 13: 100,920,017 (GRCm39) S165G probably benign Het
Cnot4 A T 6: 35,046,411 (GRCm39) probably benign Het
Dph6 A T 2: 114,348,776 (GRCm39) probably benign Het
Emc3 A G 6: 113,508,296 (GRCm39) S50P possibly damaging Het
Fbxo45 A C 16: 32,052,093 (GRCm39) probably null Het
Gm14496 A T 2: 181,642,125 (GRCm39) T599S probably benign Het
Gspt1 T C 16: 11,041,159 (GRCm39) I535V possibly damaging Het
Hemk1 A G 9: 107,207,995 (GRCm39) I215T possibly damaging Het
Ighm A T 12: 113,386,087 (GRCm39) C88S unknown Het
Itih2 A C 2: 10,134,097 (GRCm39) D38E probably benign Het
Lat C A 7: 125,967,261 (GRCm39) V113L probably benign Het
Mical2 T A 7: 111,981,269 (GRCm39) F480L possibly damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Msh2 A T 17: 87,990,074 (GRCm39) N254I possibly damaging Het
Naglu T C 11: 100,964,921 (GRCm39) M336T probably damaging Het
Nhsl1 C T 10: 18,400,222 (GRCm39) R483C probably damaging Het
Nsmaf C T 4: 6,396,791 (GRCm39) E899K possibly damaging Het
Nup85 T C 11: 115,471,593 (GRCm39) Y181H probably damaging Het
Or52n2 A T 7: 104,542,499 (GRCm39) M112K possibly damaging Het
Or5m5 T C 2: 85,815,014 (GRCm39) S277P probably damaging Het
Or7g35 A T 9: 19,496,001 (GRCm39) Q56L probably benign Het
Or8g23 C A 9: 38,971,763 (GRCm39) L66F probably damaging Het
P2rx3 C T 2: 84,854,501 (GRCm39) R91H probably benign Het
Plag1 T C 4: 3,904,513 (GRCm39) D226G probably damaging Het
Pofut1 T A 2: 153,090,393 (GRCm39) F96I probably damaging Het
Prim1 A G 10: 127,865,112 (GRCm39) N399S probably benign Het
Prkd3 G T 17: 79,320,189 (GRCm39) T51K probably damaging Het
Ptprc T C 1: 137,992,497 (GRCm39) Y1210C probably damaging Het
Rbm43 A T 2: 51,815,460 (GRCm39) S254T probably damaging Het
Retsat G A 6: 72,584,300 (GRCm39) R528Q probably damaging Het
Rlig1 A T 10: 100,419,799 (GRCm39) L94Q probably benign Het
Rps8 C A 4: 117,012,249 (GRCm39) R56L probably benign Het
Sfxn1 T C 13: 54,259,758 (GRCm39) probably benign Het
Stk33 T A 7: 108,911,574 (GRCm39) E396D possibly damaging Het
Tcaim T C 9: 122,647,890 (GRCm39) V135A probably damaging Het
Thsd7b A G 1: 129,556,676 (GRCm39) D421G probably damaging Het
Unc80 A G 1: 66,640,215 (GRCm39) D1374G possibly damaging Het
Wnk2 C A 13: 49,224,586 (GRCm39) D232Y probably damaging Het
Zfand1 T C 3: 10,409,926 (GRCm39) T145A probably damaging Het
Other mutations in Samhd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R0390:Samhd1 UTSW 2 156,956,151 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-02-04