Incidental Mutation 'IGL00903:Samhd1'
ID 26835
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 # IGL00903
Quality Score
Status
Chromosome 2
Chromosomal Location 156939454-156977016 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 156949343 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: ENSMUST00000160213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142508
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsk A G 13: 76,246,487 (GRCm39) probably null Het
As3mt A G 19: 46,700,673 (GRCm39) I159V probably benign Het
Atpsckmt T C 15: 31,606,261 (GRCm39) V73A possibly damaging Het
Ctsll3 C A 13: 60,948,075 (GRCm39) V201L probably benign Het
Dapk1 T C 13: 60,909,211 (GRCm39) Y1275H probably damaging Het
Erap1 G A 13: 74,821,826 (GRCm39) R727H probably benign Het
Fcrl6 T A 1: 172,426,674 (GRCm39) T91S probably benign Het
Gvin1 T C 7: 105,757,377 (GRCm39) E2364G probably benign Het
Hacd3 T C 9: 64,911,535 (GRCm39) probably benign Het
Hcls1 T A 16: 36,776,383 (GRCm39) probably null Het
Igf2r C T 17: 12,902,754 (GRCm39) R2432H possibly damaging Het
Kif27 C A 13: 58,492,486 (GRCm39) V218F possibly damaging Het
Klhl20 T C 1: 160,918,076 (GRCm39) Y70C probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lcn12 G T 2: 25,383,332 (GRCm39) N15K possibly damaging Het
Mrgpra1 T C 7: 46,985,326 (GRCm39) M118V probably benign Het
Nacad G T 11: 6,550,632 (GRCm39) T853K probably damaging Het
Nos3 A T 5: 24,574,860 (GRCm39) Q293L probably damaging Het
Prkca C T 11: 107,874,800 (GRCm39) V381M probably damaging Het
Ptcd3 A G 6: 71,884,828 (GRCm39) F37S possibly damaging Het
Ptgs2 A G 1: 149,980,175 (GRCm39) Y371C probably damaging Het
Pygl T C 12: 70,254,516 (GRCm39) Y143C probably damaging Het
Scube1 T A 15: 83,587,702 (GRCm39) H89L probably damaging Het
Tmem59l G A 8: 70,938,315 (GRCm39) probably benign Het
Vmn2r108 A G 17: 20,682,774 (GRCm39) V810A probably damaging Het
Vmn2r61 T G 7: 41,949,935 (GRCm39) F785C probably damaging Het
Zfas1 G T 2: 166,907,406 (GRCm39) probably benign Het
Other mutations in Samhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Samhd1 APN 2 156,962,468 (GRCm39) missense probably damaging 1.00
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
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 2013-04-17