Incidental Mutation 'R1473:Sgsm1'
ID 165913
Institutional Source Beutler Lab
Gene Symbol Sgsm1
Ensembl Gene ENSMUSG00000042216
Gene Name small G protein signaling modulator 1
Synonyms Rutbc2, 2410098H20Rik, D5Bwg1524e
MMRRC Submission 039526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1473 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 113243220-113310786 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113263257 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 868 (T868S)
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 probably benign
Transcript: ENSMUST00000048112
AA Change: T868S

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: T868S

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: T581S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: T581S

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 0.0845 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 98% (88/90)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,068,236 (GRCm38) D342G probably damaging Het
Acad8 T C 9: 26,979,041 (GRCm38) T293A probably benign Het
Adamts13 C A 2: 26,981,753 (GRCm38) Y310* probably null Het
Adcy6 T A 15: 98,592,743 (GRCm38) Y1102F probably damaging Het
Ahctf1 G A 1: 179,776,108 (GRCm38) T791M probably benign Het
Ahctf1 A G 1: 179,799,279 (GRCm38) V18A probably damaging Het
Ampd3 T G 7: 110,804,935 (GRCm38) S564R probably damaging Het
Anapc1 A T 2: 128,617,697 (GRCm38) I1814K possibly damaging Het
Arl4c A T 1: 88,701,609 (GRCm38) L19Q probably damaging Het
Atp6v0e2 T C 6: 48,539,264 (GRCm38) Y49H probably damaging Het
Ccdc24 G T 4: 117,869,904 (GRCm38) probably benign Het
Clcn6 A C 4: 148,024,156 (GRCm38) F139V possibly damaging Het
Col2a1 A G 15: 97,982,908 (GRCm38) probably benign Het
Crip2 T A 12: 113,143,500 (GRCm38) C29S probably damaging Het
Cyp2a4 A C 7: 26,314,763 (GRCm38) N455T probably benign Het
Dhcr7 T C 7: 143,847,068 (GRCm38) Y323H probably damaging Het
Dhcr7 A G 7: 143,841,368 (GRCm38) D113G probably damaging Het
Dnah7a A C 1: 53,496,014 (GRCm38) S2696A probably benign Het
Dnajc12 A G 10: 63,397,244 (GRCm38) T55A probably benign Het
Drosha G A 15: 12,912,520 (GRCm38) E1075K probably benign Het
Duox2 A G 2: 122,287,121 (GRCm38) S911P possibly damaging Het
Ephb2 G A 4: 136,694,058 (GRCm38) A327V possibly damaging Het
Espl1 C T 15: 102,320,443 (GRCm38) T1711I possibly damaging Het
Fmnl2 A G 2: 52,858,207 (GRCm38) K22R possibly damaging Het
Fzd6 T C 15: 39,030,963 (GRCm38) F175L probably damaging Het
Gm4737 T A 16: 46,154,819 (GRCm38) E65V probably damaging Het
Gm5155 A G 7: 17,905,091 (GRCm38) noncoding transcript Het
Gm6526 A G 14: 43,748,846 (GRCm38) I76M probably damaging Het
Gm6583 T C 5: 112,354,549 (GRCm38) T430A probably benign Het
Gm9881 A T 16: 91,170,735 (GRCm38) F34I unknown Het
Gm9892 T C 8: 52,196,614 (GRCm38) D148G possibly damaging Het
Grb10 C T 11: 11,934,249 (GRCm38) V486I probably damaging Het
Gtf3c3 C T 1: 54,417,778 (GRCm38) A488T probably damaging Het
Hdac4 T C 1: 92,029,968 (GRCm38) H108R possibly damaging Het
Hist2h2bb G T 3: 96,270,072 (GRCm38) L107F probably damaging Het
Hmcn1 G A 1: 150,772,552 (GRCm38) T661I probably benign Het
Icam1 T A 9: 21,027,876 (GRCm38) I515N probably damaging Het
Ifi208 A G 1: 173,695,654 (GRCm38) R497G possibly damaging Het
Igsf10 A T 3: 59,318,767 (GRCm38) V2495E probably damaging Het
Iqgap1 T C 7: 80,734,011 (GRCm38) M1102V probably benign Het
Itgb4 A T 11: 115,984,047 (GRCm38) N410I probably benign Het
Jup T C 11: 100,379,601 (GRCm38) H360R possibly damaging Het
Kif20b T A 19: 34,974,496 (GRCm38) S1685T possibly damaging Het
Lins1 T C 7: 66,712,046 (GRCm38) probably null Het
Lrig1 T A 6: 94,607,313 (GRCm38) T917S probably benign Het
Mast2 A G 4: 116,311,955 (GRCm38) S814P probably damaging Het
Mast4 T C 13: 102,772,519 (GRCm38) T483A probably damaging Het
Mcpt1 T C 14: 56,019,533 (GRCm38) M176T probably benign Het
Mettl22 A G 16: 8,473,961 (GRCm38) Q38R probably damaging Het
Mrm2 T C 5: 140,328,688 (GRCm38) T131A probably benign Het
Nde1 T G 16: 14,185,864 (GRCm38) F71V probably benign Het
Nxn C T 11: 76,263,187 (GRCm38) G274D possibly damaging Het
Olfr1230 A T 2: 89,296,906 (GRCm38) Y121* probably null Het
Olfr183 A T 16: 58,999,912 (GRCm38) T76S probably benign Het
Olfr414 T A 1: 174,430,643 (GRCm38) W72R probably damaging Het
Olfr427 G T 1: 174,099,749 (GRCm38) C97F probably damaging Het
Osbp2 T C 11: 3,717,175 (GRCm38) probably null Het
Otud7a C A 7: 63,754,629 (GRCm38) probably benign Het
Phf3 G A 1: 30,805,940 (GRCm38) L1313F probably damaging Het
Pkhd1 A T 1: 20,522,983 (GRCm38) D1635E probably benign Het
Plpp1 A G 13: 112,859,664 (GRCm38) H171R probably damaging Het
Pofut1 A G 2: 153,261,246 (GRCm38) M172V probably damaging Het
Prmt5 A G 14: 54,508,915 (GRCm38) F580L probably damaging Het
Rab11fip3 A T 17: 25,991,322 (GRCm38) L987Q probably damaging Het
Retnlb T A 16: 48,818,665 (GRCm38) C76* probably null Het
Rnf38 T C 4: 44,131,584 (GRCm38) N399S probably benign Het
Sbk1 A G 7: 126,292,252 (GRCm38) E286G possibly damaging Het
Scin T A 12: 40,077,502 (GRCm38) T430S probably benign Het
Sipa1l1 G A 12: 82,341,111 (GRCm38) R37H probably damaging Het
Smchd1 A T 17: 71,361,837 (GRCm38) probably benign Het
Sned1 G A 1: 93,281,654 (GRCm38) V830M possibly damaging Het
Soga1 A T 2: 157,020,448 (GRCm38) Y1520* probably null Het
Stk32c C T 7: 139,125,179 (GRCm38) R23Q probably damaging Het
Sult1d1 A G 5: 87,564,739 (GRCm38) M82T probably benign Het
Tat T C 8: 109,996,918 (GRCm38) L346P probably damaging Het
Tenm3 C A 8: 48,310,625 (GRCm38) G789V probably damaging Het
Thsd7a C T 6: 12,338,622 (GRCm38) S1203N probably benign Het
Tmem191c G A 16: 17,277,962 (GRCm38) probably null Het
Tmem268 A G 4: 63,580,338 (GRCm38) T239A probably damaging Het
Tmem82 A C 4: 141,616,278 (GRCm38) L227R possibly damaging Het
Ttn A T 2: 76,727,032 (GRCm38) I29906N probably damaging Het
Txndc15 T C 13: 55,721,574 (GRCm38) probably benign Het
Ubqln4 A G 3: 88,565,845 (GRCm38) I536V probably benign Het
Unc80 C T 1: 66,521,581 (GRCm38) H823Y possibly damaging Het
Vmn2r102 A T 17: 19,694,581 (GRCm38) I803F probably benign Het
Vmn2r6 G T 3: 64,538,158 (GRCm38) Y715* probably null Het
Vmn2r74 A T 7: 85,961,410 (GRCm38) C25S probably damaging Het
Wdr38 A G 2: 39,000,979 (GRCm38) T261A probably benign Het
Zfp653 T C 9: 22,058,220 (GRCm38) E250G possibly 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
R1535:Sgsm1 UTSW 5 113,263,269 (GRCm38) missense possibly damaging 0.93
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 2014-03-28