Incidental Mutation 'IGL01313:Samhd1'
ID73763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samhd1
Ensembl Gene ENSMUSG00000027639
Gene NameSAM domain and HD domain, 1
SynonymsE330031J07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01313
Quality Score
Status
Chromosome2
Chromosomal Location157097533-157135265 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 157116401 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 300 (I300T)
Ref Sequence ENSEMBL: ENSMUSP00000105176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057725] [ENSMUST00000088523] [ENSMUST00000109549] [ENSMUST00000123932]
Predicted Effect probably damaging
Transcript: ENSMUST00000057725
AA Change: I300T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: I300T

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 damaging
Transcript: ENSMUST00000088523
AA Change: I300T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: I300T

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 damaging
Transcript: ENSMUST00000109549
AA Change: I300T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639
AA Change: I300T

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 unknown
Transcript: ENSMUST00000139263
AA Change: I279T
SMART Domains Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: I279T

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: ENSMUST00000149313
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
A2m T C 6: 121,645,010 probably null Het
Abca7 T A 10: 80,003,123 probably benign Het
Acvr1c T G 2: 58,315,974 Q41H probably benign Het
Apob A T 12: 8,000,898 N1041Y probably damaging Het
Asb5 A T 8: 54,585,763 probably benign Het
Asxl3 A T 18: 22,517,459 E835V probably benign Het
Ccdc73 A T 2: 104,907,627 M23L probably benign Het
Cep170b G A 12: 112,735,652 R293H probably damaging Het
Chd8 C A 14: 52,210,575 L316F probably damaging Het
Cldn13 T C 5: 134,915,260 S24G possibly damaging Het
Cnot10 A T 9: 114,631,855 N82K probably benign Het
Colec10 G A 15: 54,459,761 V127M probably damaging Het
Cyp2d40 T C 15: 82,761,277 S130G unknown Het
Ddx60 T A 8: 61,982,526 H904Q probably damaging Het
Dnajc2 T C 5: 21,774,976 N177S possibly damaging Het
F5 G T 1: 164,193,612 V1219L probably benign Het
Fam47c G T X: 78,737,848 R12L probably damaging Het
Fat4 T C 3: 39,007,201 I4311T possibly damaging Het
Fbf1 A G 11: 116,151,081 V545A probably benign Het
Fhod3 G A 18: 25,020,720 E420K probably damaging Het
Ikzf2 T C 1: 69,539,430 K162E probably damaging Het
Insl6 C A 19: 29,321,553 S153I possibly damaging Het
Kcnh8 A G 17: 52,834,680 Y317C probably damaging Het
Lrrc6 A T 15: 66,380,513 S435T probably benign Het
Lzts1 C A 8: 69,139,107 V130L probably benign Het
Mill1 T C 7: 18,264,633 I256T possibly damaging Het
Mycbpap A C 11: 94,509,319 probably null Het
Olfr808 A G 10: 129,767,595 Y33C probably damaging Het
Pdia6 T A 12: 17,270,541 probably benign Het
Pik3c2b C T 1: 133,071,631 Q406* probably null Het
Pkhd1 C A 1: 20,201,024 G3102C probably damaging Het
Polr3b T A 10: 84,725,743 I1122N probably damaging Het
Ryr2 T A 13: 11,638,485 probably null Het
Skint5 T A 4: 113,805,164 I609F unknown Het
Slc27a3 G T 3: 90,386,554 T541K probably damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Sv2c C T 13: 96,088,289 V171M probably damaging Het
Tenm2 A G 11: 36,024,248 V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 I433F probably benign Het
Thoc2 A T X: 41,827,346 V865D probably benign Het
Trdn C A 10: 33,200,220 P282Q probably damaging Het
Twsg1 C A 17: 65,948,704 C25F probably damaging Het
Usp34 T A 11: 23,473,206 I3155N probably damaging Het
Vmn2r106 T A 17: 20,278,389 Q420L probably damaging Het
Vmn2r109 C T 17: 20,550,157 R523K probably damaging Het
Other mutations in Samhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Samhd1 APN 2 157120548 missense probably damaging 1.00
IGL00903:Samhd1 APN 2 157107423 splice site probably benign
IGL01775:Samhd1 APN 2 157114330 splice site probably benign
IGL02245:Samhd1 APN 2 157110555 missense possibly damaging 0.46
IGL02314:Samhd1 APN 2 157135028 missense probably damaging 0.98
R0390:Samhd1 UTSW 2 157114231 missense probably damaging 1.00
R0487:Samhd1 UTSW 2 157110615 missense probably damaging 1.00
R0842:Samhd1 UTSW 2 157123331 missense probably damaging 0.99
R1199:Samhd1 UTSW 2 157109461 missense probably damaging 0.99
R1681:Samhd1 UTSW 2 157101732 missense probably benign 0.45
R1775:Samhd1 UTSW 2 157107547 missense probably benign 0.16
R2859:Samhd1 UTSW 2 157106229 critical splice donor site probably null
R2903:Samhd1 UTSW 2 157123415 missense possibly damaging 0.95
R2905:Samhd1 UTSW 2 157123415 missense possibly damaging 0.95
R3983:Samhd1 UTSW 2 157123449 missense possibly damaging 0.81
R4432:Samhd1 UTSW 2 157104893 missense probably damaging 0.99
R4576:Samhd1 UTSW 2 157101750 missense probably damaging 1.00
R5283:Samhd1 UTSW 2 157109492 missense possibly damaging 0.70
R5741:Samhd1 UTSW 2 157112831 missense probably benign
R6021:Samhd1 UTSW 2 157120554 critical splice acceptor site probably null
R6518:Samhd1 UTSW 2 157114297 missense possibly damaging 0.62
R6818:Samhd1 UTSW 2 157107497 missense probably benign 0.04
R6924:Samhd1 UTSW 2 157109483 missense probably benign 0.00
Posted On2013-10-07