Incidental Mutation 'R2226:Sgsm3'
ID 239750
Institutional Source Beutler Lab
Gene Symbol Sgsm3
Ensembl Gene ENSMUSG00000042303
Gene Name small G protein signaling modulator 3
Synonyms 1810012I01Rik, Rutbc3, CIP85
MMRRC Submission 040227-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R2226 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 80861966-80896491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80888069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 53 (E53G)
Ref Sequence ENSEMBL: ENSMUSP00000155595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137004] [ENSMUST00000137255] [ENSMUST00000139517] [ENSMUST00000143147] [ENSMUST00000228971] [ENSMUST00000229727]
AlphaFold Q8VCZ6
Predicted Effect probably benign
Transcript: ENSMUST00000042506
AA Change: E63G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043311
Gene: ENSMUSG00000103565
AA Change: E63G

DomainStartEndE-ValueType
TBC 121 338 3.6e-62 SMART
low complexity region 391 401 N/A INTRINSIC
SH3 493 548 6.34e-19 SMART
RUN 664 726 1.29e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124845
Predicted Effect probably damaging
Transcript: ENSMUST00000137004
AA Change: E53G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000137255
AA Change: E53G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138550
Predicted Effect probably benign
Transcript: ENSMUST00000139517
AA Change: E53G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: E53G

DomainStartEndE-ValueType
TBC 111 328 3.6e-62 SMART
low complexity region 381 391 N/A INTRINSIC
SH3 483 538 6.34e-19 SMART
RUN 654 716 1.29e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156064
Predicted Effect possibly damaging
Transcript: ENSMUST00000228971
AA Change: E53G

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229727
AA Change: E53G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230118
Predicted Effect probably benign
Transcript: ENSMUST00000154904
SMART Domains Protein: ENSMUSP00000118050
Gene: ENSMUSG00000042303

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
SH3 114 169 6.34e-19 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,190,295 (GRCm39) V2E possibly damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Aggf1 A G 13: 95,507,354 (GRCm39) S144P probably damaging Het
Ar T A X: 97,194,937 (GRCm39) M517K probably benign Het
Ascc3 A G 10: 50,630,148 (GRCm39) T1746A probably benign Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
Atp1b3 A G 9: 96,225,329 (GRCm39) F113S probably damaging Het
Cacna1h T C 17: 25,604,917 (GRCm39) N1132S probably benign Het
Ccdc150 A G 1: 54,404,084 (GRCm39) I943V probably null Het
Cntnap4 A G 8: 113,542,120 (GRCm39) D751G probably damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Efhb A T 17: 53,769,457 (GRCm39) probably null Het
Elfn2 A G 15: 78,558,443 (GRCm39) W35R probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Epha2 G A 4: 141,048,548 (GRCm39) R569H probably damaging Het
Gabrg2 A T 11: 41,862,735 (GRCm39) F116L probably damaging Het
Gm11555 T G 11: 99,540,585 (GRCm39) R141S unknown Het
Hectd3 T C 4: 116,852,886 (GRCm39) I96T possibly damaging Het
Hnrnpul2 T A 19: 8,802,349 (GRCm39) N405K probably damaging Het
Iigp1 A T 18: 60,522,960 (GRCm39) K26I possibly damaging Het
Kirrel2 T C 7: 30,153,579 (GRCm39) K260R probably damaging Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Krt19 T C 11: 100,032,401 (GRCm39) E260G probably damaging Het
Marchf7 A G 2: 60,060,190 (GRCm39) R106G probably benign Het
Mthfd2l G T 5: 91,096,693 (GRCm39) E105* probably null Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Ndufaf5 T C 2: 140,030,780 (GRCm39) V222A probably benign Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Nsun7 T A 5: 66,418,562 (GRCm39) Y97* probably null Het
Nxph3 T C 11: 95,404,990 (GRCm39) Y17C probably benign Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or4k1 A G 14: 50,378,076 (GRCm39) S7P probably damaging Het
Or51a5 A G 7: 102,771,115 (GRCm39) M292T probably benign Het
Or5aq1 A C 2: 86,966,590 (GRCm39) V25G possibly damaging Het
Or7g19 A T 9: 18,856,177 (GRCm39) I78F probably damaging Het
P2rx2 A G 5: 110,490,745 (GRCm39) F26S probably damaging Het
Pank1 A T 19: 34,804,763 (GRCm39) L131Q probably damaging Het
Pcx T C 19: 4,668,026 (GRCm39) I516T possibly damaging Het
Pkhd1l1 T C 15: 44,376,188 (GRCm39) I950T possibly damaging Het
Ppwd1 A G 13: 104,353,753 (GRCm39) L335P probably damaging Het
Ptch1 A G 13: 63,661,485 (GRCm39) S1218P probably damaging Het
Ptpn4 C T 1: 119,610,515 (GRCm39) R664Q probably damaging Het
Semp2l1 A T 1: 32,584,934 (GRCm39) H325Q probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Slc22a19 C T 19: 7,661,215 (GRCm39) V320M possibly damaging Het
Slc25a33 A T 4: 149,838,306 (GRCm39) I122N probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Spin2g A T X: 33,656,599 (GRCm39) I171N possibly damaging Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Thoc2l T A 5: 104,667,286 (GRCm39) Y603N probably damaging Het
Ttc12 A G 9: 49,353,135 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,742,634 (GRCm39) K336R probably benign Het
Vmn2r108 A T 17: 20,701,295 (GRCm39) Y68* probably null Het
Zfp738 A G 13: 67,818,431 (GRCm39) F520S probably damaging Het
Other mutations in Sgsm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Sgsm3 APN 15 80,895,053 (GRCm39) unclassified probably benign
IGL03370:Sgsm3 APN 15 80,895,855 (GRCm39) critical splice acceptor site probably null
R0109:Sgsm3 UTSW 15 80,893,667 (GRCm39) missense probably damaging 0.99
R0267:Sgsm3 UTSW 15 80,890,803 (GRCm39) missense probably damaging 0.96
R0382:Sgsm3 UTSW 15 80,892,515 (GRCm39) nonsense probably null
R0441:Sgsm3 UTSW 15 80,893,971 (GRCm39) missense possibly damaging 0.87
R0631:Sgsm3 UTSW 15 80,895,937 (GRCm39) makesense probably null
R0905:Sgsm3 UTSW 15 80,895,546 (GRCm39) missense probably damaging 1.00
R1364:Sgsm3 UTSW 15 80,892,143 (GRCm39) missense probably damaging 0.98
R1515:Sgsm3 UTSW 15 80,894,457 (GRCm39) missense probably benign 0.08
R2227:Sgsm3 UTSW 15 80,888,069 (GRCm39) missense probably damaging 0.96
R2414:Sgsm3 UTSW 15 80,890,946 (GRCm39) missense probably benign 0.10
R2508:Sgsm3 UTSW 15 80,888,073 (GRCm39) critical splice donor site probably null
R4240:Sgsm3 UTSW 15 80,895,983 (GRCm39) unclassified probably benign
R4302:Sgsm3 UTSW 15 80,894,502 (GRCm39) unclassified probably benign
R4899:Sgsm3 UTSW 15 80,890,980 (GRCm39) missense probably benign 0.13
R5234:Sgsm3 UTSW 15 80,892,145 (GRCm39) missense probably damaging 1.00
R5288:Sgsm3 UTSW 15 80,892,200 (GRCm39) missense probably benign 0.00
R5385:Sgsm3 UTSW 15 80,892,200 (GRCm39) missense probably benign 0.00
R5386:Sgsm3 UTSW 15 80,892,200 (GRCm39) missense probably benign 0.00
R5682:Sgsm3 UTSW 15 80,895,661 (GRCm39) critical splice acceptor site probably null
R6052:Sgsm3 UTSW 15 80,893,464 (GRCm39) missense probably benign
R6349:Sgsm3 UTSW 15 80,892,547 (GRCm39) missense probably benign 0.00
R6453:Sgsm3 UTSW 15 80,895,515 (GRCm39) missense probably damaging 0.96
R6486:Sgsm3 UTSW 15 80,895,546 (GRCm39) missense probably damaging 1.00
R6591:Sgsm3 UTSW 15 80,893,063 (GRCm39) missense possibly damaging 0.94
R6642:Sgsm3 UTSW 15 80,893,901 (GRCm39) missense probably damaging 0.99
R6691:Sgsm3 UTSW 15 80,893,063 (GRCm39) missense possibly damaging 0.94
R6897:Sgsm3 UTSW 15 80,893,095 (GRCm39) missense probably benign 0.00
R7038:Sgsm3 UTSW 15 80,892,576 (GRCm39) missense possibly damaging 0.86
R7390:Sgsm3 UTSW 15 80,893,021 (GRCm39) missense possibly damaging 0.77
R7572:Sgsm3 UTSW 15 80,891,667 (GRCm39) missense possibly damaging 0.78
R7730:Sgsm3 UTSW 15 80,892,927 (GRCm39) missense probably damaging 1.00
R7851:Sgsm3 UTSW 15 80,894,954 (GRCm39) missense probably damaging 1.00
R8186:Sgsm3 UTSW 15 80,893,643 (GRCm39) missense possibly damaging 0.90
R8902:Sgsm3 UTSW 15 80,890,796 (GRCm39) missense probably damaging 1.00
R8949:Sgsm3 UTSW 15 80,894,612 (GRCm39) missense probably damaging 1.00
R9025:Sgsm3 UTSW 15 80,892,182 (GRCm39) missense probably damaging 1.00
R9664:Sgsm3 UTSW 15 80,890,935 (GRCm39) missense probably benign 0.00
R9774:Sgsm3 UTSW 15 80,890,673 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATCACAGAAGGGTAGCCTTTC -3'
(R):5'- GCACTGTTTAACTTCTCTGCAA -3'

Sequencing Primer
(F):5'- CACAGAAGGGTAGCCTTTCTCAGG -3'
(R):5'- CAGATCTCTGTGAGTTCAAGGCC -3'
Posted On 2014-10-15