Incidental Mutation 'R1535:Sgsm1'
ID 166882
Institutional Source Beutler Lab
Gene Symbol Sgsm1
Ensembl Gene ENSMUSG00000042216
Gene Name small G protein signaling modulator 1
Synonyms Rutbc2, 2410098H20Rik, D5Bwg1524e
MMRRC Submission 039574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1535 (G1)
Quality Score 113
Status Validated
Chromosome 5
Chromosomal Location 113243220-113310786 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113263269 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 864 (S864T)
Ref Sequence ENSEMBL: ENSMUSP00000046544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048112] [ENSMUST00000057209] [ENSMUST00000112325] [ENSMUST00000154248]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000048112
AA Change: S864T

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: S864T

DomainStartEndE-ValueType
RUN 127 187 6.52e-18 SMART
low complexity region 401 413 N/A INTRINSIC
low complexity region 454 469 N/A INTRINSIC
TBC 559 1053 2.88e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057209
AA Change: S577T

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: S577T

DomainStartEndE-ValueType
low complexity region 114 126 N/A INTRINSIC
low complexity region 167 182 N/A INTRINSIC
TBC 272 766 2.88e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112325
SMART Domains Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216

DomainStartEndE-ValueType
RUN 127 187 6.52e-18 SMART
low complexity region 401 413 N/A INTRINSIC
low complexity region 454 469 N/A INTRINSIC
SCOP:d1fkma1 539 615 1e-6 SMART
Blast:TBC 559 675 1e-71 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147856
Predicted Effect probably benign
Transcript: ENSMUST00000154248
SMART Domains Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216

DomainStartEndE-ValueType
RUN 127 187 6.52e-18 SMART
low complexity region 401 413 N/A INTRINSIC
low complexity region 509 524 N/A INTRINSIC
SCOP:d1fkma1 594 670 9e-7 SMART
Blast:TBC 614 706 3e-55 BLAST
Meta Mutation Damage Score 0.1584 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032A03Rik C T 9: 50,764,007 (GRCm38) R40Q probably damaging Het
3110009E18Rik T C 1: 120,171,473 (GRCm38) S99P possibly damaging Het
4932431P20Rik C T 7: 29,529,579 (GRCm38) noncoding transcript Het
Abca16 T A 7: 120,540,705 (GRCm38) I1530N probably benign Het
Abcc9 T G 6: 142,664,635 (GRCm38) Q601P probably damaging Het
Acap3 A G 4: 155,896,174 (GRCm38) probably benign Het
Adamts16 A T 13: 70,791,794 (GRCm38) probably null Het
Alpk2 G C 18: 65,350,204 (GRCm38) S244R probably benign Het
Atp8b1 C T 18: 64,545,264 (GRCm38) V854M probably damaging Het
Bend5 C A 4: 111,459,763 (GRCm38) D374E probably benign Het
Catsperg2 T C 7: 29,698,246 (GRCm38) D1014G possibly damaging Het
Ccer2 G T 7: 28,757,397 (GRCm38) G189* probably null Het
Ces2h A G 8: 105,014,486 (GRCm38) T37A probably benign Het
Cmah T C 13: 24,439,220 (GRCm38) F213L probably damaging Het
Cntn2 T C 1: 132,525,384 (GRCm38) E390G probably benign Het
Coq7 C T 7: 118,529,674 (GRCm38) R46Q possibly damaging Het
Cpb1 T A 3: 20,266,287 (GRCm38) D136V probably benign Het
Cxcr2 T C 1: 74,159,058 (GRCm38) L237P probably damaging Het
Daam1 T C 12: 71,951,918 (GRCm38) L549P unknown Het
Diaph1 A G 18: 37,896,093 (GRCm38) probably null Het
Dis3 G T 14: 99,079,426 (GRCm38) Q825K probably damaging Het
Dnah11 C T 12: 118,018,730 (GRCm38) R2568Q probably damaging Het
Dnah12 A T 14: 26,816,322 (GRCm38) R2312S possibly damaging Het
Dock9 C T 14: 121,546,064 (GRCm38) E2041K probably damaging Het
Doxl2 T C 6: 48,975,464 (GRCm38) F108L probably damaging Het
Eci1 A G 17: 24,439,090 (GRCm38) E282G probably benign Het
Egf T A 3: 129,690,778 (GRCm38) T464S probably benign Het
Eif4g3 C T 4: 138,097,302 (GRCm38) P97S probably damaging Het
Emsy A G 7: 98,593,737 (GRCm38) V1065A possibly damaging Het
Ep400 G T 5: 110,708,166 (GRCm38) probably benign Het
Fam13a A C 6: 58,939,347 (GRCm38) I607S probably damaging Het
Fam241b A G 10: 62,108,949 (GRCm38) S113P probably damaging Het
Fbxl21 A T 13: 56,523,527 (GRCm38) M1L probably benign Het
Fnip2 C A 3: 79,481,765 (GRCm38) C553F probably damaging Het
Frmd3 G T 4: 74,013,758 (GRCm38) probably benign Het
Gm597 T C 1: 28,777,424 (GRCm38) E509G probably damaging Het
Gm9745 A T 13: 8,940,644 (GRCm38) probably benign Het
Grm4 G A 17: 27,434,801 (GRCm38) S470L probably benign Het
Gucy2e T A 11: 69,226,244 (GRCm38) I784F probably damaging Het
H1fx T C 6: 87,981,148 (GRCm38) Y70C probably damaging Het
Hmcn2 A T 2: 31,420,407 (GRCm38) T3338S possibly damaging Het
Idh1 C T 1: 65,168,538 (GRCm38) G161R probably damaging Het
Idi1 T C 13: 8,886,909 (GRCm38) probably benign Het
Kcnq2 C T 2: 181,134,825 (GRCm38) G90S probably damaging Het
Klhl29 A G 12: 5,084,486 (GRCm38) Y642H probably damaging Het
Lmtk3 T A 7: 45,794,570 (GRCm38) probably benign Het
Macf1 A T 4: 123,440,693 (GRCm38) F4420I probably benign Het
Me1 A G 9: 86,587,043 (GRCm38) S470P probably damaging Het
Mfsd2b A G 12: 4,870,605 (GRCm38) S71P probably damaging Het
Mfsd3 T C 15: 76,702,779 (GRCm38) L273P probably damaging Het
Mical1 A G 10: 41,485,211 (GRCm38) K757R possibly damaging Het
Myh9 A T 15: 77,777,813 (GRCm38) V782D probably damaging Het
Nab2 C G 10: 127,665,047 (GRCm38) E59Q probably damaging Het
Nfyc A T 4: 120,761,724 (GRCm38) N244K probably damaging Het
Nupr1l A G 5: 129,908,831 (GRCm38) I80M probably damaging Het
Olfr1229 T C 2: 89,283,057 (GRCm38) I46M probably benign Het
Olfr583 A G 7: 103,051,369 (GRCm38) T24A probably benign Het
Olfr76 A G 19: 12,120,332 (GRCm38) C115R probably damaging Het
Pkn3 A G 2: 30,087,053 (GRCm38) T602A probably benign Het
Prrc2b T A 2: 32,204,289 (GRCm38) V561D probably benign Het
Psd2 T A 18: 36,005,790 (GRCm38) V489E probably benign Het
Rasal2 T C 1: 157,230,059 (GRCm38) T181A probably benign Het
Serpinb13 T C 1: 106,982,156 (GRCm38) M1T probably null Het
Slc5a10 C A 11: 61,673,941 (GRCm38) G404V possibly damaging Het
Slc6a1 G T 6: 114,307,770 (GRCm38) G263V probably damaging Het
Son A G 16: 91,659,734 (GRCm38) K1790E probably damaging Het
Syde2 A G 3: 146,002,421 (GRCm38) probably benign Het
Tmem126a T C 7: 90,452,818 (GRCm38) I58V probably benign Het
Vmn2r8 T C 5: 108,802,174 (GRCm38) Y269C probably damaging Het
Yeats2 T A 16: 20,189,365 (GRCm38) S416T probably damaging Het
Zfp40 A T 17: 23,175,869 (GRCm38) H513Q probably damaging Het
Other mutations in Sgsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Sgsm1 APN 5 113,245,064 (GRCm38) missense probably benign 0.00
IGL00503:Sgsm1 APN 5 113,276,142 (GRCm38) missense probably benign 0.00
IGL01377:Sgsm1 APN 5 113,276,182 (GRCm38) splice site probably benign
IGL01602:Sgsm1 APN 5 113,285,665 (GRCm38) missense possibly damaging 0.92
IGL01605:Sgsm1 APN 5 113,285,665 (GRCm38) missense possibly damaging 0.92
IGL01669:Sgsm1 APN 5 113,263,490 (GRCm38) missense probably benign
IGL01920:Sgsm1 APN 5 113,273,605 (GRCm38) missense probably damaging 1.00
IGL01951:Sgsm1 APN 5 113,286,767 (GRCm38) splice site probably benign
IGL02387:Sgsm1 APN 5 113,253,063 (GRCm38) missense possibly damaging 0.93
IGL02690:Sgsm1 APN 5 113,286,767 (GRCm38) splice site probably benign
IGL03177:Sgsm1 APN 5 113,250,993 (GRCm38) missense probably damaging 1.00
IGL03186:Sgsm1 APN 5 113,285,021 (GRCm38) missense probably benign 0.00
IGL03398:Sgsm1 APN 5 113,255,316 (GRCm38) missense possibly damaging 0.67
caliente UTSW 5 113,280,462 (GRCm38) intron probably benign
Chili UTSW 5 113,258,123 (GRCm38) intron probably benign
pimiento UTSW 5 113,263,257 (GRCm38) missense probably benign 0.15
R0048:Sgsm1 UTSW 5 113,268,750 (GRCm38) missense probably damaging 1.00
R0058:Sgsm1 UTSW 5 113,285,087 (GRCm38) missense probably damaging 1.00
R0058:Sgsm1 UTSW 5 113,285,087 (GRCm38) missense probably damaging 1.00
R0082:Sgsm1 UTSW 5 113,288,836 (GRCm38) missense probably benign 0.01
R0085:Sgsm1 UTSW 5 113,279,270 (GRCm38) splice site probably benign
R0099:Sgsm1 UTSW 5 113,274,360 (GRCm38) splice site probably benign
R0269:Sgsm1 UTSW 5 113,286,929 (GRCm38) critical splice acceptor site probably null
R0310:Sgsm1 UTSW 5 113,263,705 (GRCm38) missense probably benign 0.00
R0325:Sgsm1 UTSW 5 113,288,835 (GRCm38) missense probably damaging 0.99
R0420:Sgsm1 UTSW 5 113,263,759 (GRCm38) missense probably benign 0.16
R0594:Sgsm1 UTSW 5 113,310,562 (GRCm38) missense probably benign 0.00
R0599:Sgsm1 UTSW 5 113,245,028 (GRCm38) missense probably damaging 1.00
R0631:Sgsm1 UTSW 5 113,285,123 (GRCm38) splice site probably benign
R0744:Sgsm1 UTSW 5 113,279,184 (GRCm38) missense probably benign 0.38
R0833:Sgsm1 UTSW 5 113,279,184 (GRCm38) missense probably benign 0.38
R0919:Sgsm1 UTSW 5 113,258,842 (GRCm38) missense probably damaging 1.00
R0944:Sgsm1 UTSW 5 113,265,874 (GRCm38) missense probably benign 0.40
R1169:Sgsm1 UTSW 5 113,279,485 (GRCm38) missense probably damaging 1.00
R1232:Sgsm1 UTSW 5 113,273,711 (GRCm38) nonsense probably null
R1473:Sgsm1 UTSW 5 113,263,257 (GRCm38) missense probably benign 0.15
R1796:Sgsm1 UTSW 5 113,273,617 (GRCm38) missense possibly damaging 0.58
R1878:Sgsm1 UTSW 5 113,263,515 (GRCm38) missense probably damaging 0.97
R2084:Sgsm1 UTSW 5 113,285,400 (GRCm38) missense probably damaging 1.00
R3855:Sgsm1 UTSW 5 113,263,259 (GRCm38) missense probably benign 0.01
R3856:Sgsm1 UTSW 5 113,263,259 (GRCm38) missense probably benign 0.01
R4294:Sgsm1 UTSW 5 113,285,404 (GRCm38) missense probably damaging 1.00
R4373:Sgsm1 UTSW 5 113,258,123 (GRCm38) intron probably benign
R4558:Sgsm1 UTSW 5 113,258,111 (GRCm38) intron probably benign
R4610:Sgsm1 UTSW 5 113,255,307 (GRCm38) missense probably damaging 1.00
R4667:Sgsm1 UTSW 5 113,260,047 (GRCm38) critical splice donor site probably null
R4838:Sgsm1 UTSW 5 113,282,626 (GRCm38) missense probably damaging 1.00
R4890:Sgsm1 UTSW 5 113,280,462 (GRCm38) intron probably benign
R4992:Sgsm1 UTSW 5 113,282,620 (GRCm38) missense possibly damaging 0.89
R5366:Sgsm1 UTSW 5 113,251,039 (GRCm38) missense possibly damaging 0.91
R5776:Sgsm1 UTSW 5 113,250,957 (GRCm38) missense probably damaging 1.00
R5813:Sgsm1 UTSW 5 113,250,956 (GRCm38) missense probably damaging 1.00
R6000:Sgsm1 UTSW 5 113,286,838 (GRCm38) missense probably damaging 1.00
R6354:Sgsm1 UTSW 5 113,282,656 (GRCm38) missense probably damaging 0.99
R6440:Sgsm1 UTSW 5 113,279,131 (GRCm38) critical splice donor site probably null
R6831:Sgsm1 UTSW 5 113,280,380 (GRCm38) missense probably damaging 0.97
R7307:Sgsm1 UTSW 5 113,273,646 (GRCm38) missense probably benign 0.00
R7309:Sgsm1 UTSW 5 113,268,846 (GRCm38) splice site probably null
R7387:Sgsm1 UTSW 5 113,263,700 (GRCm38) missense probably damaging 1.00
R7439:Sgsm1 UTSW 5 113,274,321 (GRCm38) missense probably damaging 0.99
R7485:Sgsm1 UTSW 5 113,279,635 (GRCm38) splice site probably null
R7624:Sgsm1 UTSW 5 113,274,335 (GRCm38) nonsense probably null
R7632:Sgsm1 UTSW 5 113,276,082 (GRCm38) missense possibly damaging 0.54
R7669:Sgsm1 UTSW 5 113,253,024 (GRCm38) missense probably damaging 1.00
R7727:Sgsm1 UTSW 5 113,274,327 (GRCm38) missense possibly damaging 0.95
R7732:Sgsm1 UTSW 5 113,266,330 (GRCm38) missense probably benign 0.26
R7961:Sgsm1 UTSW 5 113,282,644 (GRCm38) missense probably damaging 1.00
R8088:Sgsm1 UTSW 5 113,255,268 (GRCm38) missense probably damaging 1.00
R8213:Sgsm1 UTSW 5 113,251,011 (GRCm38) missense probably damaging 1.00
R8278:Sgsm1 UTSW 5 113,260,092 (GRCm38) missense probably damaging 0.98
R8480:Sgsm1 UTSW 5 113,263,418 (GRCm38) missense probably benign 0.01
R8796:Sgsm1 UTSW 5 113,263,257 (GRCm38) missense probably benign 0.15
R8816:Sgsm1 UTSW 5 113,287,231 (GRCm38) missense probably damaging 1.00
R8904:Sgsm1 UTSW 5 113,273,629 (GRCm38) missense probably benign 0.00
R8905:Sgsm1 UTSW 5 113,273,629 (GRCm38) missense probably benign 0.00
R8952:Sgsm1 UTSW 5 113,284,995 (GRCm38) missense probably damaging 1.00
R9046:Sgsm1 UTSW 5 113,288,859 (GRCm38) missense probably damaging 1.00
R9162:Sgsm1 UTSW 5 113,282,711 (GRCm38) missense probably damaging 1.00
R9249:Sgsm1 UTSW 5 113,280,335 (GRCm38) missense possibly damaging 0.86
R9375:Sgsm1 UTSW 5 113,274,273 (GRCm38) missense unknown
R9377:Sgsm1 UTSW 5 113,288,875 (GRCm38) missense probably damaging 1.00
R9461:Sgsm1 UTSW 5 113,276,032 (GRCm38) critical splice donor site probably null
R9662:Sgsm1 UTSW 5 113,279,231 (GRCm38) missense probably benign 0.03
R9722:Sgsm1 UTSW 5 113,280,341 (GRCm38) missense possibly damaging 0.75
R9726:Sgsm1 UTSW 5 113,310,552 (GRCm38) missense probably benign
Z1177:Sgsm1 UTSW 5 113,282,710 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCTAAAGTCTGTGAAGGCAGAGG -3'
(R):5'- TCTTAGCACTGAAGACAGCGTCTTG -3'

Sequencing Primer
(F):5'- GAGGGCAacatggtggc -3'
(R):5'- AGATAGCCTTGAGAGTGACCTCC -3'
Posted On 2014-04-13