Incidental Mutation 'R7727:Sgsm1'
ID 595552
Institutional Source Beutler Lab
Gene Symbol Sgsm1
Ensembl Gene ENSMUSG00000042216
Gene Name small G protein signaling modulator 1
Synonyms Rutbc2, 2410098H20Rik, D5Bwg1524e
MMRRC Submission 045783-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7727 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 113243220-113310786 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113274327 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 487 (M487K)
Ref Sequence ENSEMBL: ENSMUSP00000046544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048112] [ENSMUST00000057209] [ENSMUST00000112324] [ENSMUST00000112325] [ENSMUST00000154248]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000048112
AA Change: M487K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: M487K

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 damaging
Transcript: ENSMUST00000057209
AA Change: M200K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: M200K

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 damaging
Transcript: ENSMUST00000112324
AA Change: M200K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107943
Gene: ENSMUSG00000042216
AA Change: M200K

DomainStartEndE-ValueType
low complexity region 114 126 N/A INTRINSIC
low complexity region 167 182 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112325
AA Change: M487K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: M487K

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 probably damaging
Transcript: ENSMUST00000154248
AA Change: M542K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: M542K

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 0.8472 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A T 16: 85,899,966 (GRCm38) L101Q probably damaging Het
Arhgap18 A T 10: 26,870,011 (GRCm38) I293F possibly damaging Het
Atp8b1 T A 18: 64,545,275 (GRCm38) Q850L probably damaging Het
B4galnt3 A T 6: 120,225,187 (GRCm38) F118Y probably benign Het
Bcl6 A G 16: 23,971,413 (GRCm38) probably null Het
Cc2d2b T A 19: 40,756,530 (GRCm38) L31Q probably benign Het
Cd5l G T 3: 87,367,855 (GRCm38) E234* probably null Het
Cemip2 C T 19: 21,829,957 (GRCm38) L917F probably benign Het
Cfap65 T C 1: 74,926,625 (GRCm38) T409A probably benign Het
Chst5 A T 8: 111,890,925 (GRCm38) I21N probably benign Het
Cldn20 T C 17: 3,532,755 (GRCm38) Y68H probably benign Het
Col4a4 T C 1: 82,528,793 (GRCm38) M269V unknown Het
Dgkh A G 14: 78,595,145 (GRCm38) probably null Het
Dpp6 A G 5: 27,451,244 (GRCm38) T166A probably benign Het
Drosha A G 15: 12,881,645 (GRCm38) D754G probably damaging Het
Epb41l4a C A 18: 33,854,273 (GRCm38) K350N probably damaging Het
Fsd1 T G 17: 55,988,150 (GRCm38) D46E probably benign Het
Gabra1 T C 11: 42,133,591 (GRCm38) D419G probably damaging Het
Golga4 T A 9: 118,548,702 (GRCm38) D458E probably damaging Het
Grm6 C A 11: 50,851,542 (GRCm38) A134E probably benign Het
Ikzf1 T A 11: 11,748,339 (GRCm38) S63R probably damaging Het
Ilvbl G A 10: 78,576,666 (GRCm38) V74I probably benign Het
Kcng2 C T 18: 80,296,090 (GRCm38) V328M probably benign Het
Kpna7 T C 5: 145,005,045 (GRCm38) E145G probably benign Het
Krt81 A G 15: 101,459,567 (GRCm38) V428A probably damaging Het
Lalba T C 15: 98,482,668 (GRCm38) M2V probably benign Het
Lrpprc T C 17: 84,776,947 (GRCm38) S113G probably benign Het
Mboat1 A C 13: 30,226,306 (GRCm38) M249L probably benign Het
Meltf T C 16: 31,883,794 (GRCm38) V113A probably damaging Het
Muc16 T A 9: 18,660,242 (GRCm38) H327L unknown Het
Myh1 A G 11: 67,215,922 (GRCm38) I1277V probably benign Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 66,860,548 (GRCm38) probably benign Het
Naga C A 15: 82,330,147 (GRCm38) V388L probably benign Het
Nfkb1 A C 3: 135,585,401 (GRCm38) M957R possibly damaging Het
Nol12 C A 15: 78,940,593 (GRCm38) S157* probably null Het
Or13c25 A G 4: 52,911,368 (GRCm38) V142A possibly damaging Het
Or5g23 A G 2: 85,608,407 (GRCm38) F168L possibly damaging Het
Or8u3-ps A T 2: 86,122,496 (GRCm38) D191V possibly damaging Het
Pcdhga5 T C 18: 37,695,045 (GRCm38) V182A probably benign Het
Pik3r4 A G 9: 105,669,882 (GRCm38) E953G probably damaging Het
Piwil2 C T 14: 70,394,057 (GRCm38) R646Q probably damaging Het
Plxnc1 T C 10: 94,944,109 (GRCm38) H157R probably damaging Het
Prrg4 A T 2: 104,839,378 (GRCm38) F131L probably benign Het
Prss3b C A 6: 41,033,193 (GRCm38) R69L probably benign Het
Rab28 A G 5: 41,707,970 (GRCm38) S4P probably damaging Het
Ranbp2 C A 10: 58,455,438 (GRCm38) Q209K probably benign Het
Schip1 G A 3: 68,064,984 (GRCm38) D15N probably benign Het
Serpina3f T G 12: 104,218,218 (GRCm38) M207R probably benign Het
Sh3tc2 A T 18: 61,989,580 (GRCm38) I471F probably benign Het
Slamf1 G A 1: 171,774,899 (GRCm38) V65I possibly damaging Het
Slit3 T C 11: 35,684,044 (GRCm38) C1062R probably damaging Het
Snapc4 T G 2: 26,373,434 (GRCm38) K344N probably damaging Het
Sorl1 A G 9: 41,984,526 (GRCm38) Y1778H probably damaging Het
Spon2 G A 5: 33,215,675 (GRCm38) R228C probably damaging Het
Sv2c A G 13: 95,976,695 (GRCm38) I582T possibly damaging Het
Tamm41 C T 6: 115,016,178 (GRCm38) V205M probably damaging Het
Trpm2 T C 10: 77,925,789 (GRCm38) D1009G probably benign Het
Trpm6 T C 19: 18,854,249 (GRCm38) S1493P probably damaging Het
Ttc34 G A 4: 154,839,274 (GRCm38) V147I possibly damaging Het
Tut7 A G 13: 59,799,682 (GRCm38) F942L probably benign Het
Uba2 C T 7: 34,150,850 (GRCm38) A393T probably damaging Het
Ubn2 T A 6: 38,463,938 (GRCm38) N416K probably benign Het
Uevld T C 7: 46,943,805 (GRCm38) N233S probably benign Het
Upp2 G A 2: 58,774,148 (GRCm38) M142I possibly damaging Het
Vps52 T A 17: 33,962,134 (GRCm38) V450D probably benign Het
Wdr31 A T 4: 62,460,636 (GRCm38) F118Y probably damaging Het
Zfp110 T A 7: 12,848,995 (GRCm38) D523E possibly damaging Het
Zfp367 A T 13: 64,145,643 (GRCm38) V143D probably damaging Het
Zfp950 T C 19: 61,119,941 (GRCm38) I235V probably benign 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
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
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'- AGCTAGTCCTGTCCCCTCAAAG -3'
(R):5'- CACAACGCTATGAATGGCTGATC -3'

Sequencing Primer
(F):5'- TCCTGTCCCCTCAAAGGAGTG -3'
(R):5'- CCAACAGAAACCTGGGCTGTG -3'
Posted On 2019-11-12