Incidental Mutation 'IGL02352:Sgsm2'
ID 289545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgsm2
Ensembl Gene ENSMUSG00000038351
Gene Name small G protein signaling modulator 2
Synonyms D630003G22Rik, Rutbc1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # IGL02352
Quality Score
Status
Chromosome 11
Chromosomal Location 74740087-74787886 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 74782900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057631] [ENSMUST00000081799]
AlphaFold Q80U12
Predicted Effect probably benign
Transcript: ENSMUST00000057631
SMART Domains Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351

DomainStartEndE-ValueType
RUN 128 188 4.3e-18 SMART
low complexity region 453 476 N/A INTRINSIC
TBC 563 965 3.57e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081799
SMART Domains Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351

DomainStartEndE-ValueType
RUN 128 188 4.3e-18 SMART
low complexity region 446 453 N/A INTRINSIC
low complexity region 498 521 N/A INTRINSIC
TBC 608 1010 3.57e-34 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,941,829 (GRCm39) probably null Het
Abca5 T A 11: 110,166,156 (GRCm39) N1540I probably benign Het
Adamtsl5 T A 10: 80,179,562 (GRCm39) probably null Het
Aldh2 T C 5: 121,713,960 (GRCm39) E128G probably null Het
Anln A G 9: 22,279,708 (GRCm39) V494A probably benign Het
Ano3 A T 2: 110,715,288 (GRCm39) L50* probably null Het
Atp13a3 A G 16: 30,169,902 (GRCm39) I392T probably damaging Het
C1qtnf5 A G 9: 44,019,631 (GRCm39) E85G possibly damaging Het
Cacna1s A T 1: 136,020,990 (GRCm39) probably benign Het
Ccdc150 G A 1: 54,311,680 (GRCm39) R222H probably benign Het
Cdk5rap3 A T 11: 96,807,003 (GRCm39) I9N probably damaging Het
Cmip A T 8: 118,137,994 (GRCm39) probably benign Het
Cyp21a1 A G 17: 35,023,196 (GRCm39) Y60H probably damaging Het
Cyp2d11 A G 15: 82,278,121 (GRCm39) W10R possibly damaging Het
Dock10 A G 1: 80,483,378 (GRCm39) Y2076H probably damaging Het
Dpcd G T 19: 45,565,493 (GRCm39) A156S probably benign Het
Egflam T C 15: 7,263,706 (GRCm39) N748S probably benign Het
Fam227b A G 2: 125,988,174 (GRCm39) probably benign Het
Fancd2 T A 6: 113,540,073 (GRCm39) I654N probably damaging Het
Hpf1 A G 8: 61,349,836 (GRCm39) I155V probably benign Het
Hrh1 C A 6: 114,457,404 (GRCm39) N228K probably benign Het
Igkv3-2 T C 6: 70,675,474 (GRCm39) L8P probably damaging Het
Iqgap3 T C 3: 88,009,267 (GRCm39) F734L probably benign Het
Kif5a T C 10: 127,079,370 (GRCm39) Y276C probably damaging Het
Lax1 A T 1: 133,608,208 (GRCm39) S178T possibly damaging Het
Marchf6 C T 15: 31,509,905 (GRCm39) C28Y probably damaging Het
Mylk3 T C 8: 86,081,931 (GRCm39) T356A probably benign Het
Obscn T C 11: 58,891,853 (GRCm39) E6893G probably benign Het
Or2l13 T C 16: 19,305,927 (GRCm39) L113P probably damaging Het
Pate7 A T 9: 35,689,180 (GRCm39) M1K probably null Het
Pgap2 G T 7: 101,885,346 (GRCm39) V71F probably damaging Het
Prob1 T G 18: 35,785,893 (GRCm39) E787A possibly damaging Het
Psmd2 C A 16: 20,475,691 (GRCm39) D430E probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpinb9e A T 13: 33,441,803 (GRCm39) probably benign Het
Slc38a9 A G 13: 112,826,720 (GRCm39) I153V probably benign Het
Slco1b2 T A 6: 141,631,251 (GRCm39) D628E probably damaging Het
Sult2a5 T C 7: 13,362,727 (GRCm39) S145P probably benign Het
Sv2b T C 7: 74,786,197 (GRCm39) T408A probably benign Het
Usp24 T C 4: 106,261,122 (GRCm39) C1626R probably damaging Het
Wdr43 C T 17: 71,939,043 (GRCm39) T217M possibly damaging Het
Wdr95 G A 5: 149,504,084 (GRCm39) V155M probably damaging Het
Wsb1 G A 11: 79,141,838 (GRCm39) L60F probably damaging Het
Wwp2 C T 8: 108,267,278 (GRCm39) R297* probably null Het
Xkr6 T C 14: 64,057,156 (GRCm39) Y356H unknown Het
Other mutations in Sgsm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Sgsm2 APN 11 74,744,697 (GRCm39) missense possibly damaging 0.91
IGL02164:Sgsm2 APN 11 74,756,242 (GRCm39) missense possibly damaging 0.90
IGL02236:Sgsm2 APN 11 74,750,698 (GRCm39) missense probably damaging 1.00
IGL02330:Sgsm2 APN 11 74,749,493 (GRCm39) missense probably benign 0.01
IGL02359:Sgsm2 APN 11 74,782,900 (GRCm39) splice site probably benign
IGL03061:Sgsm2 APN 11 74,741,962 (GRCm39) missense probably damaging 1.00
IGL03180:Sgsm2 APN 11 74,759,401 (GRCm39) critical splice donor site probably null
R0208:Sgsm2 UTSW 11 74,759,067 (GRCm39) missense probably damaging 1.00
R0433:Sgsm2 UTSW 11 74,749,016 (GRCm39) splice site probably null
R0517:Sgsm2 UTSW 11 74,758,477 (GRCm39) missense possibly damaging 0.62
R0755:Sgsm2 UTSW 11 74,756,323 (GRCm39) missense probably damaging 1.00
R1439:Sgsm2 UTSW 11 74,759,964 (GRCm39) missense probably benign 0.34
R1527:Sgsm2 UTSW 11 74,744,674 (GRCm39) nonsense probably null
R1713:Sgsm2 UTSW 11 74,787,652 (GRCm39) missense probably null 0.04
R1962:Sgsm2 UTSW 11 74,782,854 (GRCm39) missense probably damaging 1.00
R2189:Sgsm2 UTSW 11 74,743,908 (GRCm39) missense probably damaging 1.00
R4259:Sgsm2 UTSW 11 74,782,854 (GRCm39) missense probably damaging 1.00
R4261:Sgsm2 UTSW 11 74,782,854 (GRCm39) missense probably damaging 1.00
R4408:Sgsm2 UTSW 11 74,742,592 (GRCm39) missense probably damaging 0.99
R4590:Sgsm2 UTSW 11 74,741,958 (GRCm39) missense probably damaging 1.00
R6137:Sgsm2 UTSW 11 74,741,677 (GRCm39) missense probably damaging 1.00
R6162:Sgsm2 UTSW 11 74,782,847 (GRCm39) missense probably damaging 1.00
R6457:Sgsm2 UTSW 11 74,755,995 (GRCm39) missense possibly damaging 0.77
R6681:Sgsm2 UTSW 11 74,756,204 (GRCm39) missense probably damaging 0.99
R6722:Sgsm2 UTSW 11 74,756,250 (GRCm39) missense probably damaging 1.00
R6986:Sgsm2 UTSW 11 74,782,867 (GRCm39) missense probably damaging 1.00
R7205:Sgsm2 UTSW 11 74,745,319 (GRCm39) missense possibly damaging 0.88
R7209:Sgsm2 UTSW 11 74,745,151 (GRCm39) missense probably damaging 0.98
R7655:Sgsm2 UTSW 11 74,756,323 (GRCm39) missense probably damaging 1.00
R7656:Sgsm2 UTSW 11 74,756,323 (GRCm39) missense probably damaging 1.00
R8526:Sgsm2 UTSW 11 74,759,847 (GRCm39) missense probably benign 0.17
R9112:Sgsm2 UTSW 11 74,756,222 (GRCm39) nonsense probably null
R9184:Sgsm2 UTSW 11 74,782,834 (GRCm39) missense possibly damaging 0.63
R9226:Sgsm2 UTSW 11 74,748,960 (GRCm39) missense possibly damaging 0.72
R9391:Sgsm2 UTSW 11 74,744,630 (GRCm39) missense probably damaging 1.00
R9458:Sgsm2 UTSW 11 74,759,557 (GRCm39) missense possibly damaging 0.47
Posted On 2015-04-16