Incidental Mutation 'IGL01394:Rin3'
ID79355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rin3
Ensembl Gene ENSMUSG00000044456
Gene NameRas and Rab interactor 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01394
Quality Score
Status
Chromosome12
Chromosomal Location102283048-102390855 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102373603 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 604 (V604A)
Ref Sequence ENSEMBL: ENSMUSP00000122646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056950] [ENSMUST00000133820]
Predicted Effect probably damaging
Transcript: ENSMUST00000056950
AA Change: V684A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060771
Gene: ENSMUSG00000044456
AA Change: V684A

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
SH2 61 149 1.89e-2 SMART
low complexity region 254 311 N/A INTRINSIC
low complexity region 316 325 N/A INTRINSIC
low complexity region 358 380 N/A INTRINSIC
low complexity region 448 469 N/A INTRINSIC
low complexity region 514 523 N/A INTRINSIC
low complexity region 579 594 N/A INTRINSIC
low complexity region 714 728 N/A INTRINSIC
VPS9 736 852 5.75e-38 SMART
RA 873 960 3.5e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000133820
AA Change: V604A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122646
Gene: ENSMUSG00000044456
AA Change: V604A

DomainStartEndE-ValueType
Blast:SH2 1 69 3e-39 BLAST
SCOP:d1a81a2 3 77 2e-4 SMART
low complexity region 174 231 N/A INTRINSIC
low complexity region 236 245 N/A INTRINSIC
low complexity region 278 300 N/A INTRINSIC
low complexity region 368 389 N/A INTRINSIC
low complexity region 434 443 N/A INTRINSIC
low complexity region 499 514 N/A INTRINSIC
low complexity region 634 648 N/A INTRINSIC
VPS9 656 772 5.75e-38 SMART
RA 793 880 3.5e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G A 7: 131,146,231 Q11* probably null Het
Acot5 T C 12: 84,075,488 I282T probably benign Het
Adcy2 A G 13: 68,982,402 V122A probably damaging Het
Aldh16a1 A C 7: 45,145,513 S511A probably benign Het
Arid3b T C 9: 57,795,034 E480G probably damaging Het
Baz2a T C 10: 128,118,645 V723A possibly damaging Het
Bmpr1b A G 3: 141,862,981 probably null Het
Ccdc83 T C 7: 90,224,001 E382G probably damaging Het
Cfap46 A G 7: 139,666,979 Y349H probably damaging Het
Clpx T C 9: 65,310,213 V21A probably damaging Het
Clstn1 A G 4: 149,634,782 N356S possibly damaging Het
Ctnnd1 A G 2: 84,605,256 probably benign Het
Dock1 A G 7: 134,766,216 N505S probably benign Het
Eaf2 G A 16: 36,810,566 P82S probably damaging Het
Fbxw26 T C 9: 109,717,989 Y456C probably benign Het
Foxred2 T C 15: 77,955,620 T157A probably benign Het
Fscb A T 12: 64,473,804 I296K possibly damaging Het
Gad1-ps A G 10: 99,445,562 noncoding transcript Het
Golgb1 A G 16: 36,931,564 E3120G probably damaging Het
Ift140 A G 17: 25,094,702 D1369G probably benign Het
Kcnk13 T C 12: 100,061,662 V332A probably benign Het
Lama3 T A 18: 12,531,926 D661E probably null Het
Lum A T 10: 97,568,972 D243V probably damaging Het
Mgat4c A G 10: 102,385,114 T86A possibly damaging Het
Mpdz A T 4: 81,292,491 V1706D possibly damaging Het
Myrfl T C 10: 116,822,687 Q455R probably benign Het
Olfr420 T C 1: 174,158,857 F28S probably damaging Het
Olfr898 T A 9: 38,349,805 S241T possibly damaging Het
Papolg G A 11: 23,867,235 T654I probably benign Het
Pappa2 G A 1: 158,765,104 probably benign Het
Plekhh2 C T 17: 84,557,430 T82I probably benign Het
Prrc2a A G 17: 35,153,104 V1773A probably benign Het
Psmb8 G T 17: 34,200,729 V186L probably damaging Het
Rtn1 T C 12: 72,308,416 D252G probably benign Het
Sdk1 C T 5: 141,613,215 H212Y probably benign Het
Slc5a5 G T 8: 70,889,388 Y307* probably null Het
Slc9a9 T A 9: 95,123,037 L499Q probably benign Het
Snx8 C A 5: 140,352,179 G237V probably benign Het
Spata18 T A 5: 73,679,345 probably null Het
Stard9 A G 2: 120,706,327 E417G possibly damaging Het
Ubr5 T C 15: 38,009,631 D1034G possibly damaging Het
Upf2 A G 2: 6,040,213 probably null Het
Xrcc6 A G 15: 82,025,661 K89R possibly damaging Het
Yeats2 T C 16: 20,162,032 V237A probably damaging Het
Zdhhc6 A G 19: 55,309,892 W178R probably benign Het
Zfp280b C A 10: 76,039,663 Q459K probably damaging Het
Zfp811 C A 17: 32,797,820 K414N probably damaging Het
Other mutations in Rin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Rin3 APN 12 102369048 missense probably benign 0.00
PIT4495001:Rin3 UTSW 12 102369036 missense probably benign 0.02
R0109:Rin3 UTSW 12 102313081 missense possibly damaging 0.74
R0109:Rin3 UTSW 12 102313081 missense possibly damaging 0.74
R0504:Rin3 UTSW 12 102387564 nonsense probably null
R0699:Rin3 UTSW 12 102369575 missense probably damaging 0.98
R1499:Rin3 UTSW 12 102368759 missense unknown
R1733:Rin3 UTSW 12 102369330 nonsense probably null
R1743:Rin3 UTSW 12 102390096 missense possibly damaging 0.87
R2911:Rin3 UTSW 12 102373584 missense probably benign 0.43
R2961:Rin3 UTSW 12 102313046 nonsense probably null
R3153:Rin3 UTSW 12 102368541 missense unknown
R3932:Rin3 UTSW 12 102390083 missense probably damaging 0.98
R4498:Rin3 UTSW 12 102369680 missense probably damaging 1.00
R4803:Rin3 UTSW 12 102361383 intron probably benign
R4985:Rin3 UTSW 12 102368562 missense unknown
R5300:Rin3 UTSW 12 102369670 missense probably benign 0.29
R5363:Rin3 UTSW 12 102325834 missense probably damaging 0.97
R5414:Rin3 UTSW 12 102389857 nonsense probably null
R5458:Rin3 UTSW 12 102373716 missense probably damaging 0.99
R5503:Rin3 UTSW 12 102313055 missense probably benign 0.17
R5534:Rin3 UTSW 12 102387632 missense probably damaging 1.00
R5599:Rin3 UTSW 12 102389929 missense probably damaging 1.00
R5752:Rin3 UTSW 12 102313119 start gained probably benign
R5874:Rin3 UTSW 12 102389843 missense probably damaging 1.00
R6467:Rin3 UTSW 12 102369325 missense probably benign 0.06
R7250:Rin3 UTSW 12 102368634 missense unknown
R7264:Rin3 UTSW 12 102390115 missense probably benign 0.01
R7514:Rin3 UTSW 12 102369650 nonsense probably null
R7534:Rin3 UTSW 12 102350941 missense unknown
Posted On2013-11-05