Incidental Mutation 'R7307:Samhd1'
ID 567292
Institutional Source Beutler Lab
Gene Symbol Samhd1
Ensembl Gene ENSMUSG00000027639
Gene Name SAM domain and HD domain, 1
Synonyms E330031J07Rik
MMRRC Submission 045366-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7307 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 156939454-156977016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156976940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 55 (S55G)
Ref Sequence ENSEMBL: ENSMUSP00000059717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057725] [ENSMUST00000088523] [ENSMUST00000109549] [ENSMUST00000123932]
AlphaFold Q60710
Predicted Effect probably benign
Transcript: ENSMUST00000057725
AA Change: S55G

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: S55G

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
AA Change: S55G

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: S55G

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
AA Change: S55G

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639
AA Change: S55G

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
AA Change: S24G

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124599
Gene: ENSMUSG00000027639
AA Change: S24G

DomainStartEndE-ValueType
low complexity region 18 34 N/A INTRINSIC
SAM 43 112 1.51e-3 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: S34G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 16,936,259 (GRCm39) P155L probably benign Het
Adamts12 G T 15: 11,217,899 (GRCm39) L285F probably damaging Het
Ankrd6 A T 4: 32,816,949 (GRCm39) Y393N possibly damaging Het
Arhgap45 A G 10: 79,865,016 (GRCm39) Q993R probably benign Het
Arhgef33 G C 17: 80,654,549 (GRCm39) probably null Het
B4galnt3 T C 6: 120,192,392 (GRCm39) D448G probably benign Het
Capn1 C G 19: 6,043,938 (GRCm39) E564D possibly damaging Het
Ccdc85a A G 11: 28,349,384 (GRCm39) S474P probably benign Het
Cdk12 T A 11: 98,140,626 (GRCm39) L1289* probably null Het
Cramp1 A T 17: 25,193,719 (GRCm39) N920K possibly damaging Het
Cubn C T 2: 13,345,143 (GRCm39) S2091N probably damaging Het
Ddx1 A T 12: 13,273,960 (GRCm39) I581N probably damaging Het
Dnm2 A T 9: 21,396,983 (GRCm39) N487Y probably damaging Het
Enc1 A C 13: 97,381,601 (GRCm39) N37T probably damaging Het
Ephb3 T G 16: 21,040,976 (GRCm39) I932S probably benign Het
Frk T A 10: 34,467,934 (GRCm39) M316K probably damaging Het
Gdap2 C T 3: 100,109,349 (GRCm39) R25C unknown Het
Gpat2 T A 2: 127,276,810 (GRCm39) D671E probably damaging Het
Gpr179 C T 11: 97,229,672 (GRCm39) E828K probably benign Het
Greb1l T C 18: 10,538,142 (GRCm39) Y1052H probably damaging Het
Gtf2f1 C T 17: 57,314,833 (GRCm39) S69N probably damaging Het
Hid1 A C 11: 115,239,308 (GRCm39) I785S probably damaging Het
Hmcn2 T C 2: 31,233,093 (GRCm39) I214T probably damaging Het
Hsd3b5 G T 3: 98,527,085 (GRCm39) F120L probably damaging Het
Kif16b C T 2: 142,554,851 (GRCm39) R649Q probably benign Het
Kif17 A T 4: 137,989,954 (GRCm39) E47D probably benign Het
Kmt2b T C 7: 30,279,896 (GRCm39) H1368R probably damaging Het
Kmt2d A T 15: 98,747,299 (GRCm39) S3342T unknown Het
Krt82 A G 15: 101,451,342 (GRCm39) C356R probably damaging Het
Lrit2 A G 14: 36,794,156 (GRCm39) K407E probably benign Het
Malt1 T A 18: 65,584,640 (GRCm39) H325Q possibly damaging Het
Mccc2 T G 13: 100,125,108 (GRCm39) D187A possibly damaging Het
Mgll T A 6: 88,791,103 (GRCm39) probably null Het
Mindy2 T G 9: 70,518,241 (GRCm39) E449A possibly damaging Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Nlrp4e A G 7: 23,020,953 (GRCm39) E480G probably benign Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Or13a26 G A 7: 140,285,060 (GRCm39) V299I probably benign Het
Or1j4 G A 2: 36,740,137 (GRCm39) M26I probably benign Het
Or4g7 A T 2: 111,309,105 (GRCm39) probably benign Het
Or52a20 G T 7: 103,366,173 (GRCm39) R124L probably damaging Het
Pcdhb6 A T 18: 37,468,531 (GRCm39) H484L probably benign Het
Phldb1 T C 9: 44,605,344 (GRCm39) T604A possibly damaging Het
Pitpnm3 G T 11: 71,961,790 (GRCm39) A275D probably damaging Het
Polr2a A T 11: 69,638,118 (GRCm39) probably null Het
Polr3a A G 14: 24,510,055 (GRCm39) C960R probably benign Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Pramel11 A C 4: 143,623,345 (GRCm39) Y276* probably null Het
Pramel51 A C 12: 88,148,519 (GRCm39) C32W probably damaging Het
Psmc4 A G 7: 27,742,085 (GRCm39) V303A probably benign Het
Ptdss2 A G 7: 140,731,645 (GRCm39) N151S possibly damaging Het
Ptprk T A 10: 28,465,004 (GRCm39) Y1295* probably null Het
Rbm19 A G 5: 120,324,283 (GRCm39) K881E possibly damaging Het
Rcan2 T A 17: 44,331,993 (GRCm39) Y183* probably null Het
Rnd1 T C 15: 98,568,680 (GRCm39) E166G probably damaging Het
Rnf113a2 T A 12: 84,464,953 (GRCm39) C282S probably damaging Het
S100b G A 10: 76,092,926 (GRCm39) G20R probably benign Het
Sae1 G T 7: 16,102,469 (GRCm39) Y168* probably null Het
Samd9l C A 6: 3,372,600 (GRCm39) G1554* probably null Het
Sgsm1 T C 5: 113,421,512 (GRCm39) D525G probably benign Het
Slc28a3 A T 13: 58,710,986 (GRCm39) M512K probably damaging Het
Slc9b2 T A 3: 135,024,151 (GRCm39) N67K probably benign Het
Smarca4 T A 9: 21,550,096 (GRCm39) I402N probably damaging Het
St7l T C 3: 104,796,669 (GRCm39) F261L probably benign Het
Syde2 T A 3: 145,721,553 (GRCm39) V1140D probably damaging Het
Syt6 T A 3: 103,494,788 (GRCm39) I251N probably damaging Het
Taok2 T C 7: 126,465,990 (GRCm39) E916G probably damaging Het
Tecta A G 9: 42,289,288 (GRCm39) S426P probably damaging Het
Thra T C 11: 98,655,134 (GRCm39) I338T probably damaging Het
Trub1 A T 19: 57,461,135 (GRCm39) Y137F probably damaging Het
Vps13b T C 15: 35,841,691 (GRCm39) F2574L probably benign Het
Ythdf3 T C 3: 16,237,664 (GRCm39) S2P possibly damaging Het
Zc3h13 T A 14: 75,567,981 (GRCm39) D1091E probably damaging Het
Zdhhc6 A G 19: 55,301,682 (GRCm39) Y100H 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
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
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'- ATGGGCTTGCACTTCACCTG -3'
(R):5'- GGCAAAACTGAATGGACTCAC -3'

Sequencing Primer
(F):5'- TTAGGATGCCTCCCATGTGGAC -3'
(R):5'- AAACTGAATGGACTCACTTTTGGGG -3'
Posted On 2019-06-26