Incidental Mutation 'R4244:Rab3gap1'
ID 320326
Institutional Source Beutler Lab
Gene Symbol Rab3gap1
Ensembl Gene ENSMUSG00000036104
Gene Name RAB3 GTPase activating protein subunit 1
Synonyms 1700003B17Rik, 4732493F09Rik, p130
MMRRC Submission 041060-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R4244 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 127796510-127871605 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 127865304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037649] [ENSMUST00000212506]
AlphaFold Q80UJ7
Predicted Effect probably null
Transcript: ENSMUST00000037649
SMART Domains Protein: ENSMUSP00000042070
Gene: ENSMUSG00000036104

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: ENSMUST00000131884
Predicted Effect probably null
Transcript: ENSMUST00000212506
Meta Mutation Damage Score 0.9504 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (47/48)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b T C 1: 36,740,911 (GRCm39) Y171C possibly damaging Het
Ap1g1 G A 8: 110,560,122 (GRCm39) S281N probably benign Het
Arfgef3 C A 10: 18,506,168 (GRCm39) G878V probably damaging Het
Ccdc137 T C 11: 120,352,844 (GRCm39) F196S probably damaging Het
Ccdc18 C T 5: 108,296,838 (GRCm39) Q214* probably null Het
Ccrl2 T C 9: 110,884,422 (GRCm39) I359V probably benign Het
Cdh20 C T 1: 104,869,868 (GRCm39) T196I probably damaging Het
Cfap20dc T C 14: 8,482,521 (GRCm38) T551A probably benign Het
Col6a3 G T 1: 90,714,361 (GRCm39) T1683K unknown Het
Copa A G 1: 171,938,285 (GRCm39) I524V probably benign Het
Cyld A T 8: 89,457,383 (GRCm39) R536* probably null Het
Dock10 T A 1: 80,544,472 (GRCm39) E905V probably benign Het
Dock5 A G 14: 68,012,031 (GRCm39) F1348L probably benign Het
Efcab3 A T 11: 105,002,629 (GRCm39) K5664I probably damaging Het
Gm5174 C A 10: 86,492,144 (GRCm39) noncoding transcript Het
Gm9892 A T 8: 52,649,435 (GRCm39) noncoding transcript Het
Grm4 A G 17: 27,721,709 (GRCm39) I144T probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Krt28 G T 11: 99,265,376 (GRCm39) S97Y probably damaging Het
Map3k6 T C 4: 132,979,258 (GRCm39) Y1204H possibly damaging Het
Mfsd2b G T 12: 4,924,356 (GRCm39) probably benign Het
Nav3 T C 10: 109,605,157 (GRCm39) D972G probably damaging Het
Or2ak6 T G 11: 58,593,277 (GRCm39) L250R probably damaging Het
Or2y3 C T 17: 38,393,321 (GRCm39) V183I probably benign Het
Or5d39 T C 2: 87,979,632 (GRCm39) T244A probably benign Het
Prex1 G A 2: 166,412,256 (GRCm39) R392W probably damaging Het
Ptpn5 C T 7: 46,741,296 (GRCm39) W38* probably null Het
Rfx7 A G 9: 72,499,051 (GRCm39) T72A possibly damaging Het
Scn7a T C 2: 66,572,345 (GRCm39) I209V probably benign Het
Sh3d21 C T 4: 126,044,511 (GRCm39) probably benign Het
Slc27a1 A G 8: 72,037,617 (GRCm39) T535A probably benign Het
Slc5a5 A G 8: 71,342,930 (GRCm39) V210A probably benign Het
Snx25 A G 8: 46,558,291 (GRCm39) C239R probably damaging Het
Sp5 T C 2: 70,307,382 (GRCm39) F356L probably damaging Het
Spaca9 T C 2: 28,582,998 (GRCm39) I141V probably benign Het
Tbcd T A 11: 121,485,107 (GRCm39) L763H probably damaging Het
Thnsl1 A G 2: 21,217,059 (GRCm39) E271G probably benign Het
Vmn1r79 T A 7: 11,910,971 (GRCm39) C284* probably null Het
Vwa5a T C 9: 38,649,112 (GRCm39) probably benign Het
Zar1 T C 5: 72,737,736 (GRCm39) E121G possibly damaging Het
Zscan29 C T 2: 120,995,275 (GRCm39) probably null 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
IGL02629:Rab3gap1 APN 1 127,837,600 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- CTCACCAAGGGACTACATTGAGG -3'
(R):5'- GATCTGTGAGCCACAACACC -3'

Sequencing Primer
(F):5'- CTACATTGAGGAGGAGGTGACTGAC -3'
(R):5'- ACAGCAGCGTGTTGTCAATC -3'
Posted On 2015-06-12