Incidental Mutation 'IGL01912:Rab3ip'
ID179834
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 #IGL01912
Quality Score
Status
Chromosome10
Chromosomal Location116905784-116950769 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 116907092 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 443 (Q443K)
Ref Sequence ENSEMBL: ENSMUSP00000151708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020375] [ENSMUST00000219109]
Predicted Effect probably benign
Transcript: ENSMUST00000020375
AA Change: Q411K

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000020375
Gene: ENSMUSG00000064181
AA Change: Q411K

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: ENSMUST00000219109
AA Change: Q443K

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A T 7: 46,120,510 D860E probably damaging Het
Actl11 C A 9: 107,929,645 P389Q probably damaging Het
Bsg G T 10: 79,710,140 G103W probably null Het
Camk2d T A 3: 126,810,632 probably null Het
Clcn7 T C 17: 25,153,009 probably benign Het
Dctd C T 8: 48,111,662 probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Esyt2 T C 12: 116,339,609 I289T probably damaging Het
Exoc6b A C 6: 84,625,174 C753G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3633 T C 14: 42,640,786 probably benign Het
Hrh3 A T 2: 180,101,376 V153D probably damaging Het
Krt77 T A 15: 101,863,851 probably benign Het
Nat3 T A 8: 67,547,746 C92* probably null Het
Nckap1l T A 15: 103,474,146 L525M probably benign Het
Nrp2 T A 1: 62,771,737 C646S probably damaging Het
Olfr512 T C 7: 108,714,258 Y290H possibly damaging Het
Olfr659 T C 7: 104,671,233 I177T possibly damaging Het
Olfr698 T A 7: 106,752,992 Y132F probably damaging Het
Orc1 T C 4: 108,590,744 Y63H probably damaging Het
Otud4 T C 8: 79,673,837 V1059A probably benign Het
Ptprm A G 17: 67,046,118 V235A probably benign Het
Tnc C A 4: 64,008,740 D850Y probably damaging Het
Ubxn2b T A 4: 6,203,767 probably null Het
Vmn1r233 T A 17: 20,994,205 Y161F probably benign Het
Vmn1r54 T C 6: 90,269,460 S119P probably damaging Het
Other mutations in Rab3ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Rab3ip APN 10 116937395 critical splice donor site probably null
IGL02665:Rab3ip APN 10 116937548 missense probably benign 0.02
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 On2014-05-07