Incidental Mutation 'R9722:Sgsm1'
ID 730846
Institutional Source Beutler Lab
Gene Symbol Sgsm1
Ensembl Gene ENSMUSG00000042216
Gene Name small G protein signaling modulator 1
Synonyms Rutbc2, 2410098H20Rik, D5Bwg1524e
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9722 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 113243220-113310786 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113280341 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 327 (H327L)
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: H327L

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: H327L

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: H40L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: H40L

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: H40L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107943
Gene: ENSMUSG00000042216
AA Change: H40L

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: H327L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: H327L

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: H327L

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: H327L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,218,273 (GRCm38) I52F probably benign Het
Abcc3 A T 11: 94,359,246 (GRCm38) L1017Q probably damaging Het
Antxr2 T C 5: 97,948,327 (GRCm38) D366G possibly damaging Het
Astn2 C T 4: 65,913,741 (GRCm38) V563I probably benign Het
Atrn C A 2: 130,961,616 (GRCm38) D575E probably damaging Het
Baz1a C T 12: 54,900,097 (GRCm38) D1228N probably benign Het
Canx A G 11: 50,304,474 (GRCm38) S256P probably benign Het
Ccnt2 T A 1: 127,802,188 (GRCm38) D267E probably damaging Het
Cd209c G T 8: 3,945,905 (GRCm38) R2S probably benign Het
Cyfip2 T C 11: 46,196,308 (GRCm38) T1252A probably benign Het
Dchs2 A G 3: 83,353,994 (GRCm38) Y2523C probably benign Het
Dmxl2 G A 9: 54,416,608 (GRCm38) P990L probably benign Het
Dnajc9 T C 14: 20,388,211 (GRCm38) I108V probably benign Het
Eif2d T C 1: 131,165,211 (GRCm38) probably null Het
Ephb2 T C 4: 136,657,457 (GRCm38) D881G probably damaging Het
Esr1 A G 10: 5,001,215 (GRCm38) N531S probably benign Het
Fbxo2 G A 4: 148,164,426 (GRCm38) R125H probably damaging Het
Foxred1 C T 9: 35,206,004 (GRCm38) S277N possibly damaging Het
Gemin5 T C 11: 58,150,592 (GRCm38) E518G probably damaging Het
Gm17655 A G 5: 110,046,360 (GRCm38) Y519H probably benign Het
Igkv4-57-1 A T 6: 69,544,509 (GRCm38) W70R probably damaging Het
Krtap4-13 A G 11: 99,809,354 (GRCm38) S160P unknown Het
Map3k3 A G 11: 106,142,535 (GRCm38) I205V possibly damaging Het
Map3k4 A C 17: 12,271,636 (GRCm38) F303V probably benign Het
Mpdz T C 4: 81,386,267 (GRCm38) Q132R probably damaging Het
Myo10 T A 15: 25,801,141 (GRCm38) V1472E probably damaging Het
Nckap1 G A 2: 80,571,224 (GRCm38) Q39* probably null Het
Nog A G 11: 89,301,570 (GRCm38) S151P probably damaging Het
Obox6 G A 7: 15,834,906 (GRCm38) S15F probably benign Het
Odf2 A G 2: 29,923,582 (GRCm38) H647R possibly damaging Het
Olfr821 A G 10: 130,033,631 (GRCm38) R2G probably benign Het
Pcdhga11 T C 18: 37,757,345 (GRCm38) S469P possibly damaging Het
Pcnx4 T C 12: 72,556,265 (GRCm38) Y434H probably damaging Het
Pfpl G C 19: 12,428,933 (GRCm38) E183Q probably damaging Het
Pglyrp3 A G 3: 92,031,388 (GRCm38) K290R possibly damaging Het
Phactr3 G A 2: 178,256,250 (GRCm38) E86K probably damaging Het
Piezo1 A C 8: 122,498,758 (GRCm38) L530R Het
Pigg A T 5: 108,347,901 (GRCm38) I935F possibly damaging Het
Pofut2 T C 10: 77,266,925 (GRCm38) S282P possibly damaging Het
Ppfia1 A G 7: 144,517,665 (GRCm38) S337P probably benign Het
Sdr16c5 A T 4: 4,005,595 (GRCm38) D246E probably benign Het
Slc39a4 A G 15: 76,616,011 (GRCm38) I113T possibly damaging Het
Slc5a7 A G 17: 54,296,957 (GRCm38) probably null Het
Snx11 A G 11: 96,771,099 (GRCm38) S86P probably benign Het
Srm T A 4: 148,591,788 (GRCm38) probably null Het
Tas2r126 T C 6: 42,435,148 (GRCm38) I205T possibly damaging Het
Tek T G 4: 94,804,302 (GRCm38) W216G possibly damaging Het
Tenm3 A T 8: 48,300,814 (GRCm38) S851R probably benign Het
Tnip2 A G 5: 34,496,868 (GRCm38) V288A probably benign Het
Tpx2 T A 2: 152,891,556 (GRCm38) probably null Het
Trim33 C A 3: 103,353,830 (GRCm38) T1115K possibly damaging Het
Tspan13 T A 12: 36,024,018 (GRCm38) I40F probably damaging Het
Ube2v2 T C 16: 15,577,035 (GRCm38) I91V probably benign Het
Vmn1r22 A T 6: 57,900,646 (GRCm38) F115L probably benign Het
Vmn2r7 G A 3: 64,690,986 (GRCm38) P717S probably damaging Het
Zan T C 5: 137,389,062 (GRCm38) T4910A unknown Het
Zfp599 T A 9: 22,249,445 (GRCm38) T475S probably damaging Het
Zfp638 T A 6: 83,946,319 (GRCm38) F700I probably damaging Het
Zfp985 A C 4: 147,583,161 (GRCm38) K162T 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
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
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
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'- TTCAGAGCTGGCACACTCAG -3'
(R):5'- ACTTGGCAGAGTTGAGCTC -3'

Sequencing Primer
(F):5'- CACTCAGAGAAATAATGCAGTTTGC -3'
(R):5'- GTTGAGCTCCGGTAACTTCATAGAC -3'
Posted On 2022-10-06