Incidental Mutation 'R9533:Rab3a'
ID 719566
Institutional Source Beutler Lab
Gene Symbol Rab3a
Ensembl Gene ENSMUSG00000031840
Gene Name RAB3A, member RAS oncogene family
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.537) question?
Stock # R9533 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71207328-71211323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71209804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 123 (Y123F)
Ref Sequence ENSEMBL: ENSMUSP00000034301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034301] [ENSMUST00000038626] [ENSMUST00000110090] [ENSMUST00000110092] [ENSMUST00000110093] [ENSMUST00000143118]
AlphaFold P63011
Predicted Effect probably damaging
Transcript: ENSMUST00000034301
AA Change: Y123F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034301
Gene: ENSMUSG00000031840
AA Change: Y123F

DomainStartEndE-ValueType
RAB 23 186 1.27e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038626
SMART Domains Protein: ENSMUSP00000037929
Gene: ENSMUSG00000035559

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 122 187 6.7e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110090
AA Change: Y123F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105717
Gene: ENSMUSG00000031840
AA Change: Y123F

DomainStartEndE-ValueType
RAB 23 186 1.27e-98 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110092
AA Change: Y123F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105719
Gene: ENSMUSG00000031840
AA Change: Y123F

DomainStartEndE-ValueType
RAB 23 186 1.27e-98 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110093
AA Change: Y123F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105720
Gene: ENSMUSG00000031840
AA Change: Y123F

DomainStartEndE-ValueType
RAB 23 186 1.27e-98 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143118
AA Change: Y28F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123384
Gene: ENSMUSG00000031840
AA Change: Y28F

DomainStartEndE-ValueType
Pfam:Miro 1 43 2.5e-6 PFAM
Pfam:Ras 1 62 3.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212617
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (40/40)
MGI Phenotype PHENOTYPE: Homozygous null mutants show impaired synaptic transmission, insulin secretion and glucose intolerance. This mutation and another chemically induced allele affect circadian period and sleep patterns. Heterozygotes show milder circadian rhythm anomalies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C T 11: 110,102,582 (GRCm39) V881I probably benign Het
Acot1 C T 12: 84,063,988 (GRCm39) S57F Het
Actr3 T C 1: 125,339,048 (GRCm39) I97V probably benign Het
C4b A T 17: 34,956,698 (GRCm39) C633* probably null Het
Cdh19 T A 1: 110,817,589 (GRCm39) T718S probably damaging Het
Coasy T A 11: 100,975,852 (GRCm39) S355T probably benign Het
Coch A G 12: 51,650,132 (GRCm39) I374V possibly damaging Het
Dhrs7l C T 12: 72,675,050 (GRCm39) probably benign Het
Dip2b T A 15: 100,073,178 (GRCm39) M760K probably benign Het
Evi5 A G 5: 107,957,566 (GRCm39) Y428H probably damaging Het
Fst G A 13: 114,592,397 (GRCm39) R107* probably null Het
Gba1 A G 3: 89,114,756 (GRCm39) T387A probably benign Het
Gid8 A T 2: 180,358,713 (GRCm39) Q126L probably damaging Het
Iqgap1 A G 7: 80,383,929 (GRCm39) V1045A possibly damaging Het
Kif23 G A 9: 61,832,924 (GRCm39) S535L probably benign Het
Krt79 G A 15: 101,848,417 (GRCm39) A78V possibly damaging Het
Lama2 A G 10: 26,862,871 (GRCm39) F2964S probably damaging Het
Lamp3 T C 16: 19,519,808 (GRCm39) D125G probably benign Het
Lrrc15 C T 16: 30,092,637 (GRCm39) G234D possibly damaging Het
Myo7b A G 18: 32,108,297 (GRCm39) V1188A probably benign Het
Nbeal2 T C 9: 110,473,729 (GRCm39) T37A probably benign Het
Nlrp1b T C 11: 71,109,095 (GRCm39) I135M probably benign Het
Or2a51 A G 6: 43,178,991 (GRCm39) R138G probably benign Het
Or6c69 T A 10: 129,747,404 (GRCm39) I248F probably benign Het
P3h2 T C 16: 25,789,725 (GRCm39) Y514C probably damaging Het
Pcdha5 A G 18: 37,093,986 (GRCm39) N165S probably damaging Het
Phf10 G C 17: 15,175,366 (GRCm39) H157D probably damaging Het
Ppip5k2 C T 1: 97,661,792 (GRCm39) R708H probably benign Het
Prr12 A G 7: 44,698,692 (GRCm39) S408P unknown Het
Rbak A T 5: 143,160,172 (GRCm39) S294T probably damaging Het
Sarm1 T C 11: 78,373,996 (GRCm39) D677G probably damaging Het
Scly A T 1: 91,228,413 (GRCm39) probably benign Het
Slc26a6 T C 9: 108,735,481 (GRCm39) V385A probably damaging Het
Slc66a2 T C 18: 80,327,034 (GRCm39) V209A unknown Het
Srp72 T C 5: 77,128,274 (GRCm39) V165A probably benign Het
Tars3 A C 7: 65,333,808 (GRCm39) probably null Het
Tspan1 T A 4: 116,020,211 (GRCm39) M233L probably benign Het
Zfp574 G A 7: 24,780,379 (GRCm39) G467D probably damaging Het
Zfp85 A G 13: 67,897,722 (GRCm39) S117P probably benign Het
Zfp932 C G 5: 110,157,787 (GRCm39) P495R probably damaging Het
Other mutations in Rab3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1070:Rab3a UTSW 8 71,209,840 (GRCm39) missense probably damaging 1.00
R2196:Rab3a UTSW 8 71,209,872 (GRCm39) missense probably benign 0.00
R5315:Rab3a UTSW 8 71,208,569 (GRCm39) missense probably damaging 1.00
R6702:Rab3a UTSW 8 71,209,095 (GRCm39) missense probably damaging 1.00
R6703:Rab3a UTSW 8 71,209,095 (GRCm39) missense probably damaging 1.00
R7422:Rab3a UTSW 8 71,209,170 (GRCm39) missense possibly damaging 0.87
R9330:Rab3a UTSW 8 71,209,881 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCCAGGTCTTGACATTTGGTG -3'
(R):5'- CCATGTCCTGATCAGTGAGAC -3'

Sequencing Primer
(F):5'- TAGTGGACACCGGCCCATC -3'
(R):5'- CACTGGGTGTGTAGCTATCAGGTATC -3'
Posted On 2022-07-18