Incidental Mutation 'R8905:Sgsm1'
ID 680021
Institutional Source Beutler Lab
Gene Symbol Sgsm1
Ensembl Gene ENSMUSG00000042216
Gene Name small G protein signaling modulator 1
Synonyms Rutbc2, 2410098H20Rik, D5Bwg1524e
MMRRC Submission 068762-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8905 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 113243220-113310786 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 113273629 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 531 (G531R)
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 probably benign
Transcript: ENSMUST00000048112
AA Change: G531R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: G531R

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: G244R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: G244R

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: ENSMUST00000112324
SMART Domains Protein: ENSMUSP00000107943
Gene: ENSMUSG00000042216

DomainStartEndE-ValueType
low complexity region 114 126 N/A INTRINSIC
low complexity region 167 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112325
AA Change: G531R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: G531R

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 benign
Transcript: ENSMUST00000154248
AA Change: G586R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: G586R

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 0.1003 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,455,242 (GRCm38) V236A probably benign Het
4931408C20Rik A G 1: 26,682,814 (GRCm38) V1095A probably damaging Het
Abca15 A T 7: 120,361,548 (GRCm38) R744S probably benign Het
Adgra1 T C 7: 139,875,847 (GRCm38) S464P probably damaging Het
Arhgap45 T C 10: 80,019,736 (GRCm38) V3A probably benign Het
AW554918 T A 18: 25,340,149 (GRCm38) S134T probably damaging Het
Bmper A G 9: 23,406,786 (GRCm38) E567G probably benign Het
C2cd3 T C 7: 100,424,925 (GRCm38) probably null Het
Cars A G 7: 143,586,459 (GRCm38) Y170H probably damaging Het
Ccdc173 A G 2: 69,781,760 (GRCm38) S175P probably benign Het
Celsr1 A T 15: 85,904,068 (GRCm38) probably benign Het
Celsr3 C T 9: 108,841,302 (GRCm38) H2351Y probably damaging Het
Cyp2d11 T C 15: 82,390,901 (GRCm38) I282V probably benign Het
Dhfr A G 13: 92,357,959 (GRCm38) T57A probably damaging Het
Dnah7b A C 1: 46,253,374 (GRCm38) Q2973P probably damaging Het
Dnajc5b T C 3: 19,579,020 (GRCm38) C136R probably benign Het
Efcab1 A G 16: 14,920,411 (GRCm38) I147V possibly damaging Het
Ercc3 T G 18: 32,265,718 (GRCm38) D683E possibly damaging Het
Faxc A G 4: 21,982,398 (GRCm38) Y279C probably damaging Het
Fbxw7 T C 3: 84,965,327 (GRCm38) M191T possibly damaging Het
Fcgbp T A 7: 28,086,509 (GRCm38) V457E probably damaging Het
Fip1l1 A T 5: 74,595,963 (GRCm38) T539S probably damaging Het
Gabra1 T C 11: 42,147,225 (GRCm38) T189A possibly damaging Het
Glg1 T C 8: 111,158,036 (GRCm38) D1118G probably damaging Het
Gli3 A G 13: 15,726,531 (GRCm38) D1501G probably benign Het
Gm4756 T A 12: 72,619,657 (GRCm38) D80V probably damaging Het
Hacd1 A G 2: 14,044,950 (GRCm38) I91T possibly damaging Het
Ift22 T C 5: 136,912,891 (GRCm38) V159A probably benign Het
Igkv1-110 T A 6: 68,271,086 (GRCm38) Y60N probably damaging Het
Inpp5d A G 1: 87,709,626 (GRCm38) K502E probably damaging Het
Kcnt2 A T 1: 140,507,729 (GRCm38) Q478L possibly damaging Het
Mettl13 A G 1: 162,537,278 (GRCm38) F511L probably damaging Het
Mis18bp1 T C 12: 65,133,627 (GRCm38) probably null Het
Mrps30 A T 13: 118,386,943 (GRCm38) S98T probably benign Het
Muc2 C T 7: 141,693,400 (GRCm38) A209V probably benign Het
Nfs1 A T 2: 156,128,583 (GRCm38) I270N probably damaging Het
Nlgn3 T C X: 101,308,784 (GRCm38) V179A probably damaging Het
Nsmaf A G 4: 6,424,951 (GRCm38) S266P probably benign Het
Obscn A G 11: 59,069,958 (GRCm38) S3176P probably damaging Het
Olfr1230 A T 2: 89,296,457 (GRCm38) L271Q possibly damaging Het
Olfr834 A G 9: 18,988,198 (GRCm38) D70G possibly damaging Het
P2ry12 T A 3: 59,217,576 (GRCm38) Y226F probably damaging Het
Pabpc2 C A 18: 39,774,651 (GRCm38) T323K probably benign Het
Pank2 A G 2: 131,282,726 (GRCm38) D71G possibly damaging Het
Patj A T 4: 98,497,175 (GRCm38) H393L probably damaging Het
Pde8b A G 13: 95,046,485 (GRCm38) V255A probably damaging Het
Plekhs1 T C 19: 56,482,596 (GRCm38) W374R probably damaging Het
Ppm1g T C 5: 31,204,093 (GRCm38) D313G probably damaging Het
Rnf114 A G 2: 167,511,214 (GRCm38) N135S probably benign Het
Rnf43 T G 11: 87,731,125 (GRCm38) Y351D probably damaging Het
Robo1 A T 16: 72,742,285 (GRCm38) D90V probably damaging Het
Sbds A G 5: 130,248,284 (GRCm38) V172A possibly damaging Het
Scamp5 T A 9: 57,445,386 (GRCm38) I167F probably benign Het
Sec14l5 A G 16: 5,176,500 (GRCm38) E386G probably damaging Het
Sfxn1 T A 13: 54,092,414 (GRCm38) V159E probably damaging Het
Slc22a26 T A 19: 7,782,966 (GRCm38) I471F probably damaging Het
Slc41a3 T A 6: 90,612,141 (GRCm38) M78K probably benign Het
Slc8a1 A T 17: 81,441,655 (GRCm38) Y653N probably benign Het
Slco6c1 A T 1: 97,125,666 (GRCm38) M170K possibly damaging Het
Smarca5 A T 8: 80,713,948 (GRCm38) I629K probably benign Het
Smg7 T A 1: 152,840,066 (GRCm38) D1099V probably damaging Het
Srbd1 T C 17: 86,001,462 (GRCm38) I763V probably benign Het
Stk25 A G 1: 93,629,207 (GRCm38) S30P probably damaging Het
Sv2b C T 7: 75,117,711 (GRCm38) A646T probably benign Het
Tardbp T C 4: 148,620,636 (GRCm38) M167V probably benign Het
Tmem132a T C 19: 10,865,283 (GRCm38) N276S probably damaging Het
Ttpa T A 4: 20,028,435 (GRCm38) S162T probably benign Het
Usp13 T C 3: 32,881,423 (GRCm38) Y333H probably damaging Het
Vmn2r3 T A 3: 64,259,274 (GRCm38) Y812F probably damaging Het
Yeats2 A G 16: 20,190,394 (GRCm38) T463A probably benign Het
Zbtb26 T A 2: 37,436,915 (GRCm38) K36N probably benign Het
Zfc3h1 A T 10: 115,423,478 (GRCm38) T1652S probably benign Het
Zfp472 G A 17: 32,978,481 (GRCm38) C510Y possibly damaging Het
Zfp518a C A 19: 40,914,336 (GRCm38) T903K probably damaging Het
Zfp668 T C 7: 127,866,426 (GRCm38) T529A probably benign Het
Zfp930 A G 8: 69,228,699 (GRCm38) T349A possibly damaging Het
Zmiz2 T G 11: 6,396,840 (GRCm38) Y182D 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
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
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'- CAAGTCAGCTGTGGAGTTGG -3'
(R):5'- AGCATCCTCAACTTGGGTTC -3'

Sequencing Primer
(F):5'- TGGCAGGCCATGTTCAGAG -3'
(R):5'- GGTTCCTCCCCTGGAAAAG -3'
Posted On 2021-08-31