Incidental Mutation 'IGL02665:Rab3ip'
ID302694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab3ip
Ensembl Gene ENSMUSG00000064181
Gene NameRAB3A interacting protein
SynonymsRabin3, Gtpat12, SSX2 interacting protein
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02665
Quality Score
Status
Chromosome10
Chromosomal Location116905784-116950769 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116937548 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 120 (Q120L)
Ref Sequence ENSEMBL: ENSMUSP00000151326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020375] [ENSMUST00000218391] [ENSMUST00000219109] [ENSMUST00000219603]
Predicted Effect probably benign
Transcript: ENSMUST00000020375
AA Change: Q120L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: Q120L

DomainStartEndE-ValueType
low complexity region 84 100 N/A INTRINSIC
PDB:4LHZ|F 157 200 9e-15 PDB
low complexity region 213 220 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218391
Predicted Effect probably benign
Transcript: ENSMUST00000219109
AA Change: Q120L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000219603
AA Change: Q120L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are fertile and show no obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cenpc1 T C 5: 86,046,403 N168S probably benign Het
Cep295 A G 9: 15,326,632 probably benign Het
Defb20 A G 2: 152,479,576 Y91C probably damaging Het
Dio2 T C 12: 90,729,653 D187G possibly damaging Het
Fat4 G A 3: 39,002,836 R4227Q probably benign Het
Fsip2 G A 2: 82,993,063 G6380D probably damaging Het
Gm5916 A T 9: 36,128,666 F9I possibly damaging Het
Havcr2 T A 11: 46,479,394 V216E probably benign Het
Hdac7 G A 15: 97,796,957 probably benign Het
Itgb8 T C 12: 119,166,865 probably benign Het
Kyat3 A G 3: 142,734,466 probably null Het
Lcn3 G A 2: 25,766,404 A99T possibly damaging Het
Lox T A 18: 52,525,244 probably benign Het
Lrrc7 A G 3: 158,161,105 S1000P probably damaging Het
Muc5ac T C 7: 141,791,086 F98S possibly damaging Het
Nsd1 T C 13: 55,296,183 Y1835H probably damaging Het
Pnpla3 A G 15: 84,171,205 D104G probably benign Het
Ranbp6 T A 19: 29,812,901 Q17L possibly damaging Het
Serpinb9g T C 13: 33,495,103 C319R possibly damaging Het
Ska3 T C 14: 57,822,072 K99E probably damaging Het
Srcap T A 7: 127,540,903 S1330R probably damaging Het
Vmn2r82 T A 10: 79,379,371 M396K probably damaging Het
Vmn2r87 T G 10: 130,497,180 D67A probably benign Het
Other mutations in Rab3ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01912:Rab3ip APN 10 116907092 missense probably benign 0.09
IGL01946:Rab3ip APN 10 116937395 critical splice donor site probably null
R1538:Rab3ip UTSW 10 116939254 missense probably damaging 1.00
R1565:Rab3ip UTSW 10 116939223 missense probably benign 0.09
R1760:Rab3ip UTSW 10 116937510 missense probably damaging 1.00
R2077:Rab3ip UTSW 10 116918960 missense possibly damaging 0.87
R4441:Rab3ip UTSW 10 116915932 missense probably benign 0.19
R5442:Rab3ip UTSW 10 116918848 missense probably benign
R5526:Rab3ip UTSW 10 116918929 missense possibly damaging 0.61
R5682:Rab3ip UTSW 10 116907103 nonsense probably null
R5921:Rab3ip UTSW 10 116939247 missense probably damaging 1.00
R6254:Rab3ip UTSW 10 116915867 missense probably damaging 1.00
R7021:Rab3ip UTSW 10 116939378 missense probably damaging 1.00
R7026:Rab3ip UTSW 10 116937536 missense probably benign 0.18
R7326:Rab3ip UTSW 10 116937633 missense probably benign 0.07
R7408:Rab3ip UTSW 10 116937641 missense possibly damaging 0.62
R7655:Rab3ip UTSW 10 116914139 missense probably benign 0.04
R7656:Rab3ip UTSW 10 116914139 missense probably benign 0.04
R8363:Rab3ip UTSW 10 116918964 missense probably damaging 1.00
R8537:Rab3ip UTSW 10 116910154 missense probably damaging 1.00
Posted On2015-04-16