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, D5Bwg1524e, 2410098H20Rik
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 113391086-113458652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 113421495 bp (GRCm39)
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: 137,182,553 (GRCm39) V236A probably benign Het
Abca15 A T 7: 119,960,771 (GRCm39) R744S probably benign Het
Adgra1 T C 7: 139,455,763 (GRCm39) S464P probably damaging Het
Arhgap45 T C 10: 79,855,570 (GRCm39) V3A probably benign Het
AW554918 T A 18: 25,473,206 (GRCm39) S134T probably damaging Het
Bmper A G 9: 23,318,082 (GRCm39) E567G probably benign Het
C2cd3 T C 7: 100,074,132 (GRCm39) probably null Het
Cars1 A G 7: 143,140,196 (GRCm39) Y170H probably damaging Het
Celsr1 A T 15: 85,788,269 (GRCm39) probably benign Het
Celsr3 C T 9: 108,718,501 (GRCm39) H2351Y probably damaging Het
Cfap210 A G 2: 69,612,104 (GRCm39) S175P probably benign Het
Clxn A G 16: 14,738,275 (GRCm39) I147V possibly damaging Het
Cyp2d11 T C 15: 82,275,102 (GRCm39) I282V probably benign Het
Dhfr A G 13: 92,494,467 (GRCm39) T57A probably damaging Het
Dhrs7l T A 12: 72,666,431 (GRCm39) D80V probably damaging Het
Dnah7b A C 1: 46,292,534 (GRCm39) Q2973P probably damaging Het
Dnajc5b T C 3: 19,633,184 (GRCm39) C136R probably benign Het
Ercc3 T G 18: 32,398,771 (GRCm39) D683E possibly damaging Het
Faxc A G 4: 21,982,398 (GRCm39) Y279C probably damaging Het
Fbxw7 T C 3: 84,872,634 (GRCm39) M191T possibly damaging Het
Fcgbp T A 7: 27,785,934 (GRCm39) V457E probably damaging Het
Fip1l1 A T 5: 74,756,624 (GRCm39) T539S probably damaging Het
Gabra1 T C 11: 42,038,052 (GRCm39) T189A possibly damaging Het
Glg1 T C 8: 111,884,668 (GRCm39) D1118G probably damaging Het
Gli3 A G 13: 15,901,116 (GRCm39) D1501G probably benign Het
Hacd1 A G 2: 14,049,761 (GRCm39) I91T possibly damaging Het
Ift22 T C 5: 136,941,745 (GRCm39) V159A probably benign Het
Igkv1-110 T A 6: 68,248,070 (GRCm39) Y60N probably damaging Het
Inpp5d A G 1: 87,637,348 (GRCm39) K502E probably damaging Het
Kcnt2 A T 1: 140,435,467 (GRCm39) Q478L possibly damaging Het
Mettl13 A G 1: 162,364,847 (GRCm39) F511L probably damaging Het
Mis18bp1 T C 12: 65,180,401 (GRCm39) probably null Het
Mrps30 A T 13: 118,523,479 (GRCm39) S98T probably benign Het
Muc2 C T 7: 141,279,643 (GRCm39) A209V probably benign Het
Nfs1 A T 2: 155,970,503 (GRCm39) I270N probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nsmaf A G 4: 6,424,951 (GRCm39) S266P probably benign Het
Obscn A G 11: 58,960,784 (GRCm39) S3176P probably damaging Het
Or4c123 A T 2: 89,126,801 (GRCm39) L271Q possibly damaging Het
Or7g12 A G 9: 18,899,494 (GRCm39) D70G possibly damaging Het
P2ry12 T A 3: 59,124,997 (GRCm39) Y226F probably damaging Het
Pabpc2 C A 18: 39,907,704 (GRCm39) T323K probably benign Het
Pank2 A G 2: 131,124,646 (GRCm39) D71G possibly damaging Het
Patj A T 4: 98,385,412 (GRCm39) H393L probably damaging Het
Pde8b A G 13: 95,182,993 (GRCm39) V255A probably damaging Het
Plekhs1 T C 19: 56,471,028 (GRCm39) W374R probably damaging Het
Ppm1g T C 5: 31,361,437 (GRCm39) D313G probably damaging Het
Rnf114 A G 2: 167,353,134 (GRCm39) N135S probably benign Het
Rnf43 T G 11: 87,621,951 (GRCm39) Y351D probably damaging Het
Robo1 A T 16: 72,539,173 (GRCm39) D90V probably damaging Het
Sbds A G 5: 130,277,125 (GRCm39) V172A possibly damaging Het
Scamp5 T A 9: 57,352,669 (GRCm39) I167F probably benign Het
Sec14l5 A G 16: 4,994,364 (GRCm39) E386G probably damaging Het
Sfxn1 T A 13: 54,246,433 (GRCm39) V159E probably damaging Het
Slc22a26 T A 19: 7,760,331 (GRCm39) I471F probably damaging Het
Slc41a3 T A 6: 90,589,123 (GRCm39) M78K probably benign Het
Slc8a1 A T 17: 81,749,084 (GRCm39) Y653N probably benign Het
Slco6c1 A T 1: 97,053,391 (GRCm39) M170K possibly damaging Het
Smarca5 A T 8: 81,440,577 (GRCm39) I629K probably benign Het
Smg7 T A 1: 152,715,817 (GRCm39) D1099V probably damaging Het
Spata31e2 A G 1: 26,721,895 (GRCm39) V1095A probably damaging Het
Srbd1 T C 17: 86,308,890 (GRCm39) I763V probably benign Het
Stk25 A G 1: 93,556,929 (GRCm39) S30P probably damaging Het
Sv2b C T 7: 74,767,459 (GRCm39) A646T probably benign Het
Tardbp T C 4: 148,705,093 (GRCm39) M167V probably benign Het
Tmem132a T C 19: 10,842,647 (GRCm39) N276S probably damaging Het
Ttpa T A 4: 20,028,435 (GRCm39) S162T probably benign Het
Usp13 T C 3: 32,935,572 (GRCm39) Y333H probably damaging Het
Vmn2r3 T A 3: 64,166,695 (GRCm39) Y812F probably damaging Het
Yeats2 A G 16: 20,009,144 (GRCm39) T463A probably benign Het
Zbtb26 T A 2: 37,326,927 (GRCm39) K36N probably benign Het
Zfc3h1 A T 10: 115,259,383 (GRCm39) T1652S probably benign Het
Zfp472 G A 17: 33,197,455 (GRCm39) C510Y possibly damaging Het
Zfp518a C A 19: 40,902,780 (GRCm39) T903K probably damaging Het
Zfp668 T C 7: 127,465,598 (GRCm39) T529A probably benign Het
Zfp930 A G 8: 69,681,351 (GRCm39) T349A possibly damaging Het
Zmiz2 T G 11: 6,346,840 (GRCm39) Y182D 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
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
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
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'- CAAGTCAGCTGTGGAGTTGG -3'
(R):5'- AGCATCCTCAACTTGGGTTC -3'

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