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, D5Bwg1524e, 2410098H20Rik
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 113391086-113458652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113411135 bp (GRCm39)
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
3110009E18Rik T C 1: 120,099,203 (GRCm39) S99P possibly damaging Het
Abca16 T A 7: 120,139,928 (GRCm39) I1530N probably benign Het
Abcc9 T G 6: 142,610,361 (GRCm39) Q601P probably damaging Het
Acap3 A G 4: 155,980,631 (GRCm39) probably benign Het
Adamts16 A T 13: 70,939,913 (GRCm39) probably null Het
Alpk2 G C 18: 65,483,275 (GRCm39) S244R probably benign Het
Aoc1l1 T C 6: 48,952,398 (GRCm39) F108L probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bend5 C A 4: 111,316,960 (GRCm39) D374E probably benign Het
Catsperg2 T C 7: 29,397,671 (GRCm39) D1014G possibly damaging Het
Ccer2 G T 7: 28,456,822 (GRCm39) G189* probably null Het
Ces2h A G 8: 105,741,118 (GRCm39) T37A probably benign Het
Cfap68 C T 9: 50,675,307 (GRCm39) R40Q probably damaging Het
Cmah T C 13: 24,623,203 (GRCm39) F213L probably damaging Het
Cntn2 T C 1: 132,453,122 (GRCm39) E390G probably benign Het
Coq7 C T 7: 118,128,897 (GRCm39) R46Q possibly damaging Het
Cpb1 T A 3: 20,320,451 (GRCm39) D136V probably benign Het
Cxcr2 T C 1: 74,198,217 (GRCm39) L237P probably damaging Het
Daam1 T C 12: 71,998,692 (GRCm39) L549P unknown Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dis3 G T 14: 99,316,862 (GRCm39) Q825K probably damaging Het
Dnah11 C T 12: 117,982,465 (GRCm39) R2568Q probably damaging Het
Dnah12 A T 14: 26,538,279 (GRCm39) R2312S possibly damaging Het
Dock9 C T 14: 121,783,476 (GRCm39) E2041K probably damaging Het
Eci1 A G 17: 24,658,064 (GRCm39) E282G probably benign Het
Egf T A 3: 129,484,427 (GRCm39) T464S probably benign Het
Eif4g3 C T 4: 137,824,613 (GRCm39) P97S probably damaging Het
Emsy A G 7: 98,242,944 (GRCm39) V1065A possibly damaging Het
Ep400 G T 5: 110,856,032 (GRCm39) probably benign Het
Fam13a A C 6: 58,916,332 (GRCm39) I607S probably damaging Het
Fam241b A G 10: 61,944,728 (GRCm39) S113P probably damaging Het
Fbxl21 A T 13: 56,671,340 (GRCm39) M1L probably benign Het
Fnip2 C A 3: 79,389,072 (GRCm39) C553F probably damaging Het
Frmd3 G T 4: 73,931,995 (GRCm39) probably benign Het
Grm4 G A 17: 27,653,775 (GRCm39) S470L probably benign Het
Gucy2e T A 11: 69,117,070 (GRCm39) I784F probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Hmcn2 A T 2: 31,310,419 (GRCm39) T3338S possibly damaging Het
Idh1 C T 1: 65,207,697 (GRCm39) G161R probably damaging Het
Idi1 T C 13: 8,936,945 (GRCm39) probably benign Het
Idi2l A T 13: 8,990,680 (GRCm39) probably benign Het
Kcnq2 C T 2: 180,776,618 (GRCm39) G90S probably damaging Het
Klhl29 A G 12: 5,134,486 (GRCm39) Y642H probably damaging Het
Lmtk3 T A 7: 45,443,994 (GRCm39) probably benign Het
Macf1 A T 4: 123,334,486 (GRCm39) F4420I probably benign Het
Me1 A G 9: 86,469,096 (GRCm39) S470P probably damaging Het
Mfsd2b A G 12: 4,920,605 (GRCm39) S71P probably damaging Het
Mfsd3 T C 15: 76,586,979 (GRCm39) L273P probably damaging Het
Mical1 A G 10: 41,361,207 (GRCm39) K757R possibly damaging Het
Myh9 A T 15: 77,662,013 (GRCm39) V782D probably damaging Het
Nab2 C G 10: 127,500,916 (GRCm39) E59Q probably damaging Het
Nfyc A T 4: 120,618,921 (GRCm39) N244K probably damaging Het
Nupr2 A G 5: 129,937,672 (GRCm39) I80M probably damaging Het
Or4c15b T C 2: 89,113,401 (GRCm39) I46M probably benign Het
Or51f1d A G 7: 102,700,576 (GRCm39) T24A probably benign Het
Or5a1 A G 19: 12,097,696 (GRCm39) C115R probably damaging Het
Pkn3 A G 2: 29,977,065 (GRCm39) T602A probably benign Het
Prrc2b T A 2: 32,094,301 (GRCm39) V561D probably benign Het
Psd2 T A 18: 36,138,843 (GRCm39) V489E probably benign Het
Rasal2 T C 1: 157,057,629 (GRCm39) T181A probably benign Het
Serpinb13 T C 1: 106,909,886 (GRCm39) M1T probably null Het
Slc5a10 C A 11: 61,564,767 (GRCm39) G404V possibly damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Son A G 16: 91,456,622 (GRCm39) K1790E probably damaging Het
Spata31e5 T C 1: 28,816,505 (GRCm39) E509G probably damaging Het
Syde2 A G 3: 145,708,176 (GRCm39) probably benign Het
Tmem126a T C 7: 90,102,026 (GRCm39) I58V probably benign Het
Vmn2r8 T C 5: 108,950,040 (GRCm39) Y269C probably damaging Het
Wdr87-ps C T 7: 29,229,004 (GRCm39) noncoding transcript Het
Yeats2 T A 16: 20,008,115 (GRCm39) S416T probably damaging Het
Zfp40 A T 17: 23,394,843 (GRCm39) H513Q probably damaging Het
Other mutations in Sgsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Sgsm1 APN 5 113,392,930 (GRCm39) missense probably benign 0.00
IGL00503:Sgsm1 APN 5 113,424,008 (GRCm39) missense probably benign 0.00
IGL01377:Sgsm1 APN 5 113,424,048 (GRCm39) splice site probably benign
IGL01602:Sgsm1 APN 5 113,433,531 (GRCm39) missense possibly damaging 0.92
IGL01605:Sgsm1 APN 5 113,433,531 (GRCm39) missense possibly damaging 0.92
IGL01669:Sgsm1 APN 5 113,411,356 (GRCm39) missense probably benign
IGL01920:Sgsm1 APN 5 113,421,471 (GRCm39) missense probably damaging 1.00
IGL01951:Sgsm1 APN 5 113,434,633 (GRCm39) splice site probably benign
IGL02387:Sgsm1 APN 5 113,400,929 (GRCm39) missense possibly damaging 0.93
IGL02690:Sgsm1 APN 5 113,434,633 (GRCm39) splice site probably benign
IGL03177:Sgsm1 APN 5 113,398,859 (GRCm39) missense probably damaging 1.00
IGL03186:Sgsm1 APN 5 113,432,887 (GRCm39) missense probably benign 0.00
IGL03398:Sgsm1 APN 5 113,403,182 (GRCm39) missense possibly damaging 0.67
caliente UTSW 5 113,428,328 (GRCm39) intron probably benign
Chili UTSW 5 113,405,989 (GRCm39) intron probably benign
pimiento UTSW 5 113,411,123 (GRCm39) missense probably benign 0.15
R0048:Sgsm1 UTSW 5 113,416,616 (GRCm39) missense probably damaging 1.00
R0058:Sgsm1 UTSW 5 113,432,953 (GRCm39) missense probably damaging 1.00
R0058:Sgsm1 UTSW 5 113,432,953 (GRCm39) missense probably damaging 1.00
R0082:Sgsm1 UTSW 5 113,436,702 (GRCm39) missense probably benign 0.01
R0085:Sgsm1 UTSW 5 113,427,136 (GRCm39) splice site probably benign
R0099:Sgsm1 UTSW 5 113,422,226 (GRCm39) splice site probably benign
R0269:Sgsm1 UTSW 5 113,434,795 (GRCm39) critical splice acceptor site probably null
R0310:Sgsm1 UTSW 5 113,411,571 (GRCm39) missense probably benign 0.00
R0325:Sgsm1 UTSW 5 113,436,701 (GRCm39) missense probably damaging 0.99
R0420:Sgsm1 UTSW 5 113,411,625 (GRCm39) missense probably benign 0.16
R0594:Sgsm1 UTSW 5 113,458,428 (GRCm39) missense probably benign 0.00
R0599:Sgsm1 UTSW 5 113,392,894 (GRCm39) missense probably damaging 1.00
R0631:Sgsm1 UTSW 5 113,432,989 (GRCm39) splice site probably benign
R0744:Sgsm1 UTSW 5 113,427,050 (GRCm39) missense probably benign 0.38
R0833:Sgsm1 UTSW 5 113,427,050 (GRCm39) missense probably benign 0.38
R0919:Sgsm1 UTSW 5 113,406,708 (GRCm39) missense probably damaging 1.00
R0944:Sgsm1 UTSW 5 113,413,740 (GRCm39) missense probably benign 0.40
R1169:Sgsm1 UTSW 5 113,427,351 (GRCm39) missense probably damaging 1.00
R1232:Sgsm1 UTSW 5 113,421,577 (GRCm39) nonsense probably null
R1473:Sgsm1 UTSW 5 113,411,123 (GRCm39) missense probably benign 0.15
R1796:Sgsm1 UTSW 5 113,421,483 (GRCm39) missense possibly damaging 0.58
R1878:Sgsm1 UTSW 5 113,411,381 (GRCm39) missense probably damaging 0.97
R2084:Sgsm1 UTSW 5 113,433,266 (GRCm39) missense probably damaging 1.00
R3855:Sgsm1 UTSW 5 113,411,125 (GRCm39) missense probably benign 0.01
R3856:Sgsm1 UTSW 5 113,411,125 (GRCm39) missense probably benign 0.01
R4294:Sgsm1 UTSW 5 113,433,270 (GRCm39) missense probably damaging 1.00
R4373:Sgsm1 UTSW 5 113,405,989 (GRCm39) intron probably benign
R4558:Sgsm1 UTSW 5 113,405,977 (GRCm39) intron probably benign
R4610:Sgsm1 UTSW 5 113,403,173 (GRCm39) missense probably damaging 1.00
R4667:Sgsm1 UTSW 5 113,407,913 (GRCm39) critical splice donor site probably null
R4838:Sgsm1 UTSW 5 113,430,492 (GRCm39) missense probably damaging 1.00
R4890:Sgsm1 UTSW 5 113,428,328 (GRCm39) intron probably benign
R4992:Sgsm1 UTSW 5 113,430,486 (GRCm39) missense possibly damaging 0.89
R5366:Sgsm1 UTSW 5 113,398,905 (GRCm39) missense possibly damaging 0.91
R5776:Sgsm1 UTSW 5 113,398,823 (GRCm39) missense probably damaging 1.00
R5813:Sgsm1 UTSW 5 113,398,822 (GRCm39) missense probably damaging 1.00
R6000:Sgsm1 UTSW 5 113,434,704 (GRCm39) missense probably damaging 1.00
R6354:Sgsm1 UTSW 5 113,430,522 (GRCm39) missense probably damaging 0.99
R6440:Sgsm1 UTSW 5 113,426,997 (GRCm39) critical splice donor site probably null
R6831:Sgsm1 UTSW 5 113,428,246 (GRCm39) missense probably damaging 0.97
R7307:Sgsm1 UTSW 5 113,421,512 (GRCm39) missense probably benign 0.00
R7309:Sgsm1 UTSW 5 113,416,712 (GRCm39) splice site probably null
R7387:Sgsm1 UTSW 5 113,411,566 (GRCm39) missense probably damaging 1.00
R7439:Sgsm1 UTSW 5 113,422,187 (GRCm39) missense probably damaging 0.99
R7485:Sgsm1 UTSW 5 113,427,501 (GRCm39) splice site probably null
R7624:Sgsm1 UTSW 5 113,422,201 (GRCm39) nonsense probably null
R7632:Sgsm1 UTSW 5 113,423,948 (GRCm39) missense possibly damaging 0.54
R7669:Sgsm1 UTSW 5 113,400,890 (GRCm39) missense probably damaging 1.00
R7727:Sgsm1 UTSW 5 113,422,193 (GRCm39) missense possibly damaging 0.95
R7732:Sgsm1 UTSW 5 113,414,196 (GRCm39) missense probably benign 0.26
R7961:Sgsm1 UTSW 5 113,430,510 (GRCm39) missense probably damaging 1.00
R8088:Sgsm1 UTSW 5 113,403,134 (GRCm39) missense probably damaging 1.00
R8213:Sgsm1 UTSW 5 113,398,877 (GRCm39) missense probably damaging 1.00
R8278:Sgsm1 UTSW 5 113,407,958 (GRCm39) missense probably damaging 0.98
R8480:Sgsm1 UTSW 5 113,411,284 (GRCm39) missense probably benign 0.01
R8796:Sgsm1 UTSW 5 113,411,123 (GRCm39) missense probably benign 0.15
R8816:Sgsm1 UTSW 5 113,435,097 (GRCm39) missense probably damaging 1.00
R8904:Sgsm1 UTSW 5 113,421,495 (GRCm39) missense probably benign 0.00
R8905:Sgsm1 UTSW 5 113,421,495 (GRCm39) missense probably benign 0.00
R8952:Sgsm1 UTSW 5 113,432,861 (GRCm39) missense probably damaging 1.00
R9046:Sgsm1 UTSW 5 113,436,725 (GRCm39) missense probably damaging 1.00
R9162:Sgsm1 UTSW 5 113,430,577 (GRCm39) missense probably damaging 1.00
R9249:Sgsm1 UTSW 5 113,428,201 (GRCm39) missense possibly damaging 0.86
R9375:Sgsm1 UTSW 5 113,422,139 (GRCm39) missense unknown
R9377:Sgsm1 UTSW 5 113,436,741 (GRCm39) missense probably damaging 1.00
R9461:Sgsm1 UTSW 5 113,423,898 (GRCm39) critical splice donor site probably null
R9662:Sgsm1 UTSW 5 113,427,097 (GRCm39) missense probably benign 0.03
R9722:Sgsm1 UTSW 5 113,428,207 (GRCm39) missense possibly damaging 0.75
R9726:Sgsm1 UTSW 5 113,458,418 (GRCm39) missense probably benign
Z1177:Sgsm1 UTSW 5 113,430,576 (GRCm39) 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