Incidental Mutation 'R5776:Sgsm1'
ID 446694
Institutional Source Beutler Lab
Gene Symbol Sgsm1
Ensembl Gene ENSMUSG00000042216
Gene Name small G protein signaling modulator 1
Synonyms Rutbc2, D5Bwg1524e, 2410098H20Rik
MMRRC Submission 043375-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5776 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 113391086-113458652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113398823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1037 (I1037F)
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: I1037F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: I1037F

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: I750F

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: I750F

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
Meta Mutation Damage Score 0.0983 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,107,649 (GRCm39) M378K possibly damaging Het
Abca17 A G 17: 24,514,132 (GRCm39) V857A probably benign Het
Abca9 C T 11: 109,998,286 (GRCm39) probably null Het
Adam22 T C 5: 8,177,361 (GRCm39) K583E probably benign Het
Akr1c13 T C 13: 4,244,186 (GRCm39) F80L probably damaging Het
Apob A T 12: 8,056,149 (GRCm39) I1511F possibly damaging Het
Ccdc168 T C 1: 44,095,665 (GRCm39) E1811G possibly damaging Het
Cfh C A 1: 140,071,761 (GRCm39) R291I possibly damaging Het
Col1a1 C T 11: 94,840,550 (GRCm39) S1114F unknown Het
Ctsj T C 13: 61,150,956 (GRCm39) D168G probably damaging Het
Erf T C 7: 24,945,534 (GRCm39) D79G probably damaging Het
Extl1 T C 4: 134,085,083 (GRCm39) N629S possibly damaging Het
Fbxo9 T C 9: 78,002,469 (GRCm39) E204G probably damaging Het
Fdx2 C A 9: 20,984,778 (GRCm39) V9L possibly damaging Het
Gfer G T 17: 24,915,027 (GRCm39) S5R probably benign Het
Gm15931 A T 7: 4,284,564 (GRCm39) noncoding transcript Het
Gm6309 T A 5: 146,105,691 (GRCm39) I158F possibly damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Hacl1 A T 14: 31,344,828 (GRCm39) N234K possibly damaging Het
Hcn3 C T 3: 89,055,412 (GRCm39) A612T probably benign Het
Hectd1 T A 12: 51,810,897 (GRCm39) E1679D possibly damaging Het
Hipk4 T C 7: 27,228,405 (GRCm39) L285P probably damaging Het
Igsf3 G A 3: 101,332,796 (GRCm39) V25I probably benign Het
Jade1 A G 3: 41,568,227 (GRCm39) H765R probably benign Het
Kcnv1 T C 15: 44,977,963 (GRCm39) D25G unknown Het
Klhl3 A G 13: 58,152,998 (GRCm39) S586P probably benign Het
L3mbtl2 A G 15: 81,569,072 (GRCm39) D582G probably damaging Het
Matn2 G A 15: 34,431,765 (GRCm39) C835Y probably damaging Het
Naa15 A C 3: 51,367,447 (GRCm39) D490A probably damaging Het
Nab2 T A 10: 127,500,198 (GRCm39) Y298F probably damaging Het
Nipsnap1 T A 11: 4,838,919 (GRCm39) M115K probably benign Het
Nlrp5-ps T C 7: 14,326,649 (GRCm39) noncoding transcript Het
Nol4l T G 2: 153,259,741 (GRCm39) Q211P probably damaging Het
Oga T C 19: 45,760,363 (GRCm39) E265G probably damaging Het
Or52z15 T A 7: 103,332,246 (GRCm39) M97K probably damaging Het
Or6k14 A T 1: 173,927,339 (GRCm39) H105L probably damaging Het
Pkhd1 T C 1: 20,279,409 (GRCm39) K2970E possibly damaging Het
Plin4 T C 17: 56,411,983 (GRCm39) T683A probably damaging Het
Ppm1g T C 5: 31,362,454 (GRCm39) D282G probably benign Het
Ppp6r3 A G 19: 3,576,901 (GRCm39) S10P possibly damaging Het
Raph1 G A 1: 60,529,315 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,268,325 (GRCm39) V935A possibly damaging Het
Reg4 T A 3: 98,140,344 (GRCm39) D108E possibly damaging Het
Saraf T A 8: 34,632,604 (GRCm39) Y228N probably damaging Het
Sctr T C 1: 119,984,137 (GRCm39) S357P probably damaging Het
Sec22b A T 3: 97,821,884 (GRCm39) N139Y probably damaging Het
Skint5 A C 4: 113,620,700 (GRCm39) S671R unknown Het
Slc38a3 C A 9: 107,535,948 (GRCm39) E62* probably null Het
Slfn14 C T 11: 83,174,425 (GRCm39) E189K probably damaging Het
Sox21 A G 14: 118,472,656 (GRCm39) L131P probably damaging Het
Stip1 A G 19: 6,999,393 (GRCm39) probably null Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Susd1 T C 4: 59,315,363 (GRCm39) probably benign Het
Tdrd7 T A 4: 46,005,689 (GRCm39) D498E probably benign Het
Tln2 C T 9: 67,165,532 (GRCm39) E1053K probably damaging Het
Trav6-4 A G 14: 53,692,211 (GRCm39) D103G probably damaging Het
Txndc15 A G 13: 55,865,920 (GRCm39) E128G probably benign Het
Vmn2r22 A T 6: 123,614,673 (GRCm39) W306R probably damaging Het
Yjefn3 A T 8: 70,342,121 (GRCm39) L33Q probably damaging Het
Zfp641 T C 15: 98,186,891 (GRCm39) D244G probably 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
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
R8278:Sgsm1 UTSW 5 113,407,958 (GRCm39) missense probably damaging 0.98
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'- CCAGGTCCCTTGATAGAATGC -3'
(R):5'- ATGCTTGCAGGGAGGACTAG -3'

Sequencing Primer
(F):5'- ACCCAAGTGTCATGTGCATG -3'
(R):5'- ACTAGGGAGGACAGGCCC -3'
Posted On 2016-12-15