Mutagenetix > Incidental Mutations

Incidental Mutation 'R0109:Rin3'

17432

Institutional Source

Beutler Lab

Gene Symbol

Rin3

Ensembl Gene

ENSMUSG00000044456

Gene Name

Ras and Rab interactor 3

Synonyms

MMRRC Submission

038395-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

102283048-102390855 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102313081 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 50 (I50V)

Ref Sequence

ENSEMBL: ENSMUSP00000123268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056950] [ENSMUST00000101114] [ENSMUST00000133820] [ENSMUST00000150795]

Predicted Effect

unknown
Transcript: ENSMUST00000056950
AA Change: I50V

SMART Domains

Protein: ENSMUSP00000060771
Gene: ENSMUSG00000044456
AA Change: I50V

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000101114
AA Change: I50V

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098673
Gene: ENSMUSG00000044456
AA Change: I50V

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
SH2	61	149	1.89e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133820

SMART Domains

Protein: ENSMUSP00000122646
Gene: ENSMUSG00000044456

Domain	Start	End	E-Value	Type
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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150795
AA Change: I50V

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123268
Gene: ENSMUSG00000044456
AA Change: I50V

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
Blast:SH2	61	122	1e-38	BLAST

Meta Mutation Damage Score

0.0658

Coding Region Coverage

1x: 90.6%
3x: 88.5%
10x: 83.8%
20x: 77.5%

Validation Efficiency

90% (95/106)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,659,303	H710Q	probably benign	Het
Abca14	A	T	7: 120,318,762	K1496*	probably null	Het
Anapc1	C	A	2: 128,634,693	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,578,294	S203T	probably benign	Het
Astn1	C	T	1: 158,664,104	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,755,517	Y1184N	possibly damaging	Het
Avil	A	G	10: 127,013,644	N603S	probably benign	Het
Brca1	T	C	11: 101,531,090	D149G	possibly damaging	Het
Car14	C	A	3: 95,899,451	A234S	probably benign	Het
Cep164	A	C	9: 45,771,587	L935R	probably damaging	Het
Cps1	T	C	1: 67,229,418	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,544,743	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,518,157	I459N	probably damaging	Het
Cyth1	T	C	11: 118,182,306	E242G	probably damaging	Het
Dclk3	T	G	9: 111,467,670	L94R	possibly damaging	Het
Disp2	T	C	2: 118,791,816	S1010P	probably damaging	Het
Dlec1	G	A	9: 119,105,824	R145H	probably damaging	Het
Dsg3	T	C	18: 20,540,134	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487	D309V	probably damaging	Het
Fam13b	A	G	18: 34,451,308	I601T	probably benign	Het
Fgd5	T	A	6: 91,988,235	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340	E688D	probably benign	Het
Gabrb1	C	T	5: 72,121,946		probably benign	Het
Gm10130	A	T	2: 150,323,841		probably benign	Het
Gm6590	A	T	6: 130,484,906		noncoding transcript	Het
Gse1	T	A	8: 120,567,785	S284T	probably damaging	Het
Ipo13	C	T	4: 117,905,016	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,259,151	E264G	probably benign	Het
Krt73	A	T	15: 101,796,395	L352*	probably null	Het
Mapk15	A	T	15: 75,996,077	K153*	probably null	Het
Mcemp1	C	A	8: 3,667,055	Y65*	probably null	Het
Mcoln2	C	G	3: 146,175,718	R210G	probably damaging	Het
Miox	G	A	15: 89,335,581	V91I	probably benign	Het
Myh7b	A	G	2: 155,611,674	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,693,748		probably null	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Olfr1241	A	G	2: 89,482,803	F111L	probably benign	Het
Olfr1442	C	A	19: 12,674,860	F218L	probably benign	Het
Olfr646	T	C	7: 104,106,605	S109P	probably damaging	Het
Osbp2	A	C	11: 3,711,791	S754A	probably benign	Het
Pard3	C	T	8: 127,398,666	R712C	probably damaging	Het
Parp9	T	C	16: 35,948,341	I64T	probably damaging	Het
Pcm1	T	A	8: 41,257,937	H81Q	possibly damaging	Het
Pcnt	G	A	10: 76,389,196	P1825S	probably benign	Het
Pfkfb4	T	C	9: 108,998,889	V43A	probably benign	Het
Pgap1	A	T	1: 54,494,825	V643E	probably damaging	Het
Pip5k1a	T	C	3: 95,065,442	T433A	probably benign	Het
Pip5k1b	T	A	19: 24,379,047	M176L	probably benign	Het
Polg2	T	C	11: 106,777,132		probably benign	Het
Pomp	T	A	5: 147,875,513	H136Q	probably benign	Het
Ppfia4	A	T	1: 134,324,217		probably null	Het
Prdx2	G	A	8: 84,970,251	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,105	G70D	probably benign	Het
Rdh10	T	A	1: 16,106,265	I83N	probably damaging	Het
Rnf122	T	C	8: 31,124,849		probably benign	Het
Sik2	A	G	9: 50,899,475	M447T	possibly damaging	Het
Sla2	A	G	2: 156,883,587		probably null	Het
Slc51a	T	A	16: 32,477,607	I192L	probably benign	Het
Sorcs1	T	C	19: 50,378,891		probably benign	Het
Spata16	T	A	3: 26,913,267	F389I	probably damaging	Het
Srebf1	G	A	11: 60,201,804	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,158,434	V736A	probably benign	Het
Tbx15	C	A	3: 99,351,866	T351N	possibly damaging	Het
Tep1	A	G	14: 50,851,916		probably null	Het
Tmed11	T	A	5: 108,777,412	D178V	probably damaging	Het
Traf7	A	G	17: 24,513,926	F110L	probably benign	Het
Ubqlnl	C	T	7: 104,150,192	V33M	probably damaging	Het
Vcan	A	T	13: 89,678,073		probably null	Het
Vmn1r194	A	G	13: 22,245,047	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,977,062	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,119	T961A	probably benign	Het
Wdr48	G	A	9: 119,918,568		probably benign	Het
Wwp1	G	A	4: 19,641,725		probably benign	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp839	G	A	12: 110,860,874	E400K	possibly damaging	Het

Other mutations in Rin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Rin3	APN	12	102373603	missense	probably damaging	1.00
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
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
R7837:Rin3	UTSW	12	102368765	missense	unknown
R7875:Rin3	UTSW	12	102369476	missense	probably damaging	1.00
R7983:Rin3	UTSW	12	102369159	missense	probably benign	0.14
R8014:Rin3	UTSW	12	102361371	nonsense	probably null
R8187:Rin3	UTSW	12	102325807	missense	unknown
Z1177:Rin3	UTSW	12	102325862	missense	unknown

Posted On

2013-01-31