Incidental Mutation 'R8278:Sgsm1'
ID 638061
Institutional Source Beutler Lab
Gene Symbol Sgsm1
Ensembl Gene ENSMUSG00000042216
Gene Name small G protein signaling modulator 1
Synonyms Rutbc2, D5Bwg1524e, 2410098H20Rik
MMRRC Submission 067701-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8278 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 113391086-113458652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113407958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 898 (F898L)
Ref Sequence ENSEMBL: ENSMUSP00000046544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048112] [ENSMUST00000057209]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048112
AA Change: F898L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: F898L

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: F611L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: F611L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,668,040 (GRCm39) Q477L probably benign Het
Adcy10 A T 1: 165,330,857 (GRCm39) D40V probably damaging Het
Cab39l T C 14: 59,776,562 (GRCm39) Y248H probably damaging Het
Casr G T 16: 36,336,011 (GRCm39) D99E probably damaging Het
Cdh16 T C 8: 105,345,107 (GRCm39) E364G probably benign Het
Cep104 C T 4: 154,068,122 (GRCm39) T189I possibly damaging Het
Cfap418 T A 4: 10,882,474 (GRCm39) probably null Het
Chd7 T A 4: 8,862,485 (GRCm39) probably null Het
Chit1 G A 1: 134,078,332 (GRCm39) R380Q probably benign Het
Cpne2 A G 8: 95,281,316 (GRCm39) K174R probably damaging Het
Dchs2 T A 3: 83,178,310 (GRCm39) I1121N probably damaging Het
Fgf6 A T 6: 126,992,781 (GRCm39) Y78F probably damaging Het
H2-T10 A T 17: 36,429,832 (GRCm39) N320K probably benign Het
Heatr3 A T 8: 88,883,361 (GRCm39) N398I possibly damaging Het
Hrh4 T C 18: 13,140,284 (GRCm39) S60P probably damaging Het
Ikbip A G 10: 90,932,190 (GRCm39) H278R probably benign Het
Jmy A T 13: 93,601,224 (GRCm39) I394N probably damaging Het
Klhl8 T C 5: 104,022,107 (GRCm39) E314G probably benign Het
Lhx9 A T 1: 138,766,324 (GRCm39) C164S probably damaging Het
Loxl3 G T 6: 83,025,697 (GRCm39) G352C probably damaging Het
Lrrk1 A G 7: 65,928,432 (GRCm39) F1232S probably benign Het
Mpnd A G 17: 56,319,469 (GRCm39) T311A probably benign Het
Mpp7 A T 18: 7,444,025 (GRCm39) D132E probably benign Het
Nck2 T C 1: 43,593,740 (GRCm39) S316P probably damaging Het
Nckap5 T C 1: 125,955,509 (GRCm39) S348G probably damaging Het
Nyap1 C T 5: 137,730,077 (GRCm39) R790H probably damaging Het
Or5b124 C T 19: 13,610,958 (GRCm39) T161I possibly damaging Het
Pdcd11 G A 19: 47,094,736 (GRCm39) V507I probably damaging Het
Pdzd2 T C 15: 12,375,995 (GRCm39) H1380R probably benign Het
Pgap1 C T 1: 54,529,430 (GRCm39) V763I probably benign Het
Pnma8b G T 7: 16,680,263 (GRCm39) V416L probably damaging Het
Prkn A T 17: 12,269,609 (GRCm39) N421Y probably benign Het
Prpf4 T C 4: 62,333,493 (GRCm39) probably null Het
Psmb5 C T 14: 54,855,342 (GRCm39) G36D probably benign Het
Ptprq A G 10: 107,522,239 (GRCm39) S571P possibly damaging Het
Rap1gap A C 4: 137,444,748 (GRCm39) S254R probably damaging Het
Rufy2 A T 10: 62,843,472 (GRCm39) D492V probably benign Het
Ryr2 C A 13: 11,610,392 (GRCm39) E4145* probably null Het
Slc26a9 C A 1: 131,689,514 (GRCm39) A487D possibly damaging Het
Slc6a15 T C 10: 103,229,890 (GRCm39) probably null Het
Smad9 A T 3: 54,696,687 (GRCm39) T251S probably benign Het
Socs3 A T 11: 117,858,478 (GRCm39) C193* probably null Het
Sox6 T A 7: 115,076,199 (GRCm39) D813V probably damaging Het
Taf2 A T 15: 54,929,361 (GRCm39) L65* probably null Het
Taf6 G A 5: 138,178,097 (GRCm39) A468V probably benign Het
Tmem71 T C 15: 66,426,961 (GRCm39) D78G probably damaging Het
Tob2 T C 15: 81,735,288 (GRCm39) N227S probably benign Het
Trim34a C A 7: 103,898,623 (GRCm39) Q180K probably damaging Het
Ugt1a9 T C 1: 87,999,378 (GRCm39) L276P possibly damaging Het
Wdr33 G A 18: 31,960,405 (GRCm39) R23Q possibly damaging Het
Wnt7b T G 15: 85,427,887 (GRCm39) N189H Het
Zfp609 G A 9: 65,604,804 (GRCm39) A1308V possibly 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
R1535:Sgsm1 UTSW 5 113,411,135 (GRCm39) missense possibly damaging 0.93
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
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'- AAGTCAGTGTGATAGTTCTGATCG -3'
(R):5'- AATTGAACCCCAGAGTGAGCG -3'

Sequencing Primer
(F):5'- CATTCCTTAGGCAGGGACTACTG -3'
(R):5'- CCAGAGTGAGCGGTTGG -3'
Posted On 2020-07-28