Incidental Mutation 'IGL02629:Rab3gap1'
ID 301193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab3gap1
Ensembl Gene ENSMUSG00000036104
Gene Name RAB3 GTPase activating protein subunit 1
Synonyms 1700003B17Rik, 4732493F09Rik, p130
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # IGL02629
Quality Score
Status
Chromosome 1
Chromosomal Location 127796510-127871605 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127837600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 221 (T221A)
Ref Sequence ENSEMBL: ENSMUSP00000148357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037649] [ENSMUST00000212506]
AlphaFold Q80UJ7
Predicted Effect probably benign
Transcript: ENSMUST00000037649
AA Change: T221A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000042070
Gene: ENSMUSG00000036104
AA Change: T221A

DomainStartEndE-ValueType
low complexity region 254 263 N/A INTRINSIC
low complexity region 574 587 N/A INTRINSIC
Pfam:Rab3-GTPase_cat 612 769 2.9e-67 PFAM
low complexity region 856 868 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150945
Predicted Effect probably benign
Transcript: ENSMUST00000212506
AA Change: T221A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display abnormal synaptic transmission but have normal gross brain morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,445,006 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,190,199 (GRCm39) I34T possibly damaging Het
Acan T A 7: 78,761,727 (GRCm39) I1979N possibly damaging Het
Ankrd27 A G 7: 35,325,121 (GRCm39) D701G probably benign Het
Arhgap31 C T 16: 38,429,526 (GRCm39) G450S probably benign Het
Braf T C 6: 39,665,233 (GRCm39) E45G possibly damaging Het
Btnl6 C T 17: 34,733,442 (GRCm39) V178M probably damaging Het
Capg A T 6: 72,532,737 (GRCm39) Q67L probably benign Het
Carmil3 A G 14: 55,736,525 (GRCm39) N663S probably damaging Het
Casz1 T A 4: 149,028,848 (GRCm39) S1098T probably benign Het
Cd55b A T 1: 130,347,535 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpf A G 1: 189,384,531 (GRCm39) L2583P probably damaging Het
Clec4a1 A C 6: 122,909,106 (GRCm39) probably null Het
Corin T C 5: 72,490,016 (GRCm39) N653S probably damaging Het
Dhx36 T C 3: 62,414,155 (GRCm39) E69G probably benign Het
Dpy19l1 C A 9: 24,350,009 (GRCm39) probably benign Het
Fam184a T C 10: 53,574,907 (GRCm39) N234S possibly damaging Het
Foxg1 A G 12: 49,432,331 (GRCm39) S355G probably benign Het
Fsd1l T C 4: 53,686,417 (GRCm39) S277P probably damaging Het
Hadh T A 3: 131,029,284 (GRCm39) D245V probably damaging Het
Jag2 G A 12: 112,878,134 (GRCm39) probably benign Het
Klhl18 A T 9: 110,259,006 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Mcoln2 A G 3: 145,875,799 (GRCm39) Y89C probably benign Het
Mug1 A T 6: 121,817,024 (GRCm39) Y31F possibly damaging Het
Ndufb5 A G 3: 32,791,348 (GRCm39) T32A probably benign Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Nudt6 A G 3: 37,459,320 (GRCm39) Y222H probably benign Het
Or4x6 A T 2: 89,949,201 (GRCm39) L247* probably null Het
Pla2g4c A T 7: 13,069,302 (GRCm39) R159* probably null Het
Pnpla7 A G 2: 24,940,957 (GRCm39) D1103G probably damaging Het
Pof1b T G X: 111,554,934 (GRCm39) probably benign Het
Prrg2 C T 7: 44,706,166 (GRCm39) probably null Het
Rfx7 A G 9: 72,526,541 (GRCm39) N1244D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf123 A T 9: 107,947,988 (GRCm39) probably benign Het
Rnf44 T G 13: 54,830,875 (GRCm39) Q207P possibly damaging Het
Serpina3g A G 12: 104,207,437 (GRCm39) D200G probably damaging Het
Slc5a4a T A 10: 75,983,413 (GRCm39) S17T unknown Het
Smc4 G T 3: 68,933,206 (GRCm39) C609F probably damaging Het
Sync T C 4: 129,187,744 (GRCm39) F259L probably damaging Het
Tas2r113 T C 6: 132,870,299 (GRCm39) L109P probably damaging Het
Tjp2 C A 19: 24,099,743 (GRCm39) probably benign Het
Tmem30a C A 9: 79,683,531 (GRCm39) probably benign Het
Unc80 T C 1: 66,522,476 (GRCm39) V226A possibly damaging Het
Upk2 A T 9: 44,365,436 (GRCm39) L44Q probably damaging Het
Usp42 T C 5: 143,708,909 (GRCm39) Y203C possibly damaging Het
Vmn1r28 A T 6: 58,242,801 (GRCm39) I215F probably benign Het
Zswim2 A G 2: 83,755,553 (GRCm39) V116A possibly damaging Het
Other mutations in Rab3gap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Rab3gap1 APN 1 127,858,124 (GRCm39) splice site probably benign
IGL01467:Rab3gap1 APN 1 127,858,121 (GRCm39) splice site probably null
IGL01554:Rab3gap1 APN 1 127,855,745 (GRCm39) missense possibly damaging 0.82
IGL01773:Rab3gap1 APN 1 127,845,958 (GRCm39) missense possibly damaging 0.64
IGL01866:Rab3gap1 APN 1 127,818,817 (GRCm39) missense probably damaging 1.00
IGL02078:Rab3gap1 APN 1 127,796,652 (GRCm39) splice site probably benign
IGL02251:Rab3gap1 APN 1 127,865,237 (GRCm39) missense probably benign 0.25
IGL02268:Rab3gap1 APN 1 127,796,695 (GRCm39) missense probably damaging 1.00
IGL02274:Rab3gap1 APN 1 127,866,817 (GRCm39) missense probably benign
IGL02372:Rab3gap1 APN 1 127,847,298 (GRCm39) splice site probably benign
IGL02399:Rab3gap1 APN 1 127,855,840 (GRCm39) missense possibly damaging 0.93
IGL02700:Rab3gap1 APN 1 127,866,342 (GRCm39) missense probably benign 0.06
IGL02748:Rab3gap1 APN 1 127,865,198 (GRCm39) missense probably damaging 0.99
little_bighorn UTSW 1 127,818,835 (GRCm39) critical splice donor site probably null
IGL03048:Rab3gap1 UTSW 1 127,865,214 (GRCm39) missense probably damaging 1.00
R0828:Rab3gap1 UTSW 1 127,865,922 (GRCm39) splice site probably benign
R1382:Rab3gap1 UTSW 1 127,870,333 (GRCm39) missense probably damaging 0.97
R1729:Rab3gap1 UTSW 1 127,870,223 (GRCm39) missense probably damaging 1.00
R1809:Rab3gap1 UTSW 1 127,862,251 (GRCm39) missense probably damaging 0.99
R1990:Rab3gap1 UTSW 1 127,870,166 (GRCm39) missense possibly damaging 0.56
R2001:Rab3gap1 UTSW 1 127,831,456 (GRCm39) missense possibly damaging 0.95
R2041:Rab3gap1 UTSW 1 127,865,727 (GRCm39) missense possibly damaging 0.78
R3955:Rab3gap1 UTSW 1 127,862,254 (GRCm39) missense probably damaging 1.00
R4192:Rab3gap1 UTSW 1 127,853,207 (GRCm39) intron probably benign
R4243:Rab3gap1 UTSW 1 127,865,304 (GRCm39) critical splice donor site probably null
R4244:Rab3gap1 UTSW 1 127,865,304 (GRCm39) critical splice donor site probably null
R4354:Rab3gap1 UTSW 1 127,843,378 (GRCm39) missense probably benign 0.02
R4592:Rab3gap1 UTSW 1 127,852,996 (GRCm39) intron probably benign
R4622:Rab3gap1 UTSW 1 127,870,156 (GRCm39) missense probably benign 0.00
R4738:Rab3gap1 UTSW 1 127,862,173 (GRCm39) missense probably damaging 0.99
R4917:Rab3gap1 UTSW 1 127,816,914 (GRCm39) missense possibly damaging 0.75
R4918:Rab3gap1 UTSW 1 127,816,914 (GRCm39) missense possibly damaging 0.75
R5090:Rab3gap1 UTSW 1 127,843,415 (GRCm39) missense probably benign 0.35
R5197:Rab3gap1 UTSW 1 127,816,931 (GRCm39) missense probably benign
R5310:Rab3gap1 UTSW 1 127,870,110 (GRCm39) critical splice acceptor site probably null
R5580:Rab3gap1 UTSW 1 127,858,727 (GRCm39) missense probably benign 0.01
R6670:Rab3gap1 UTSW 1 127,858,512 (GRCm39) missense probably benign
R6825:Rab3gap1 UTSW 1 127,858,158 (GRCm39) missense probably damaging 1.00
R7024:Rab3gap1 UTSW 1 127,818,835 (GRCm39) critical splice donor site probably null
R7274:Rab3gap1 UTSW 1 127,855,249 (GRCm39) missense probably benign
R7380:Rab3gap1 UTSW 1 127,865,727 (GRCm39) missense possibly damaging 0.78
R7583:Rab3gap1 UTSW 1 127,858,612 (GRCm39) missense probably benign 0.03
R7654:Rab3gap1 UTSW 1 127,837,652 (GRCm39) missense probably damaging 1.00
R8309:Rab3gap1 UTSW 1 127,837,655 (GRCm39) missense possibly damaging 0.82
R8392:Rab3gap1 UTSW 1 127,866,370 (GRCm39) missense probably benign 0.01
R8864:Rab3gap1 UTSW 1 127,837,630 (GRCm39) missense probably damaging 1.00
R9190:Rab3gap1 UTSW 1 127,858,495 (GRCm39) missense probably benign
R9799:Rab3gap1 UTSW 1 127,858,489 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16