Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

102249307-102357114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102279340 bp (GRCm39)

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]

AlphaFold

P59729

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: 121,636,262 (GRCm39)	H710Q	probably benign	Het
Abca14	A	T	7: 119,917,985 (GRCm39)	K1496*	probably null	Het
Anapc1	C	A	2: 128,476,613 (GRCm39)	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,305,605 (GRCm39)	S203T	probably benign	Het
Astn1	C	T	1: 158,491,674 (GRCm39)	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,743,949 (GRCm39)	Y1184N	possibly damaging	Het
Avil	A	G	10: 126,849,513 (GRCm39)	N603S	probably benign	Het
Brca1	T	C	11: 101,421,916 (GRCm39)	D149G	possibly damaging	Het
Car14	C	A	3: 95,806,763 (GRCm39)	A234S	probably benign	Het
Cep164	A	C	9: 45,682,885 (GRCm39)	L935R	probably damaging	Het
Cps1	T	C	1: 67,268,577 (GRCm39)	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,438,536 (GRCm39)	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,406,394 (GRCm39)	I459N	probably damaging	Het
Cyth1	T	C	11: 118,073,132 (GRCm39)	E242G	probably damaging	Het
Dclk3	T	G	9: 111,296,738 (GRCm39)	L94R	possibly damaging	Het
Disp2	T	C	2: 118,622,297 (GRCm39)	S1010P	probably damaging	Het
Dlec1	G	A	9: 118,934,892 (GRCm39)	R145H	probably damaging	Het
Dsg3	T	C	18: 20,673,191 (GRCm39)	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487 (GRCm39)	D309V	probably damaging	Het
Fam13b	A	G	18: 34,584,361 (GRCm39)	I601T	probably benign	Het
Fgd5	T	A	6: 91,965,216 (GRCm39)	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340 (GRCm39)	E688D	probably benign	Het
Gabrb1	C	T	5: 72,279,289 (GRCm39)		probably benign	Het
Gm6590	A	T	6: 130,461,869 (GRCm39)		noncoding transcript	Het
Gse1	T	A	8: 121,294,524 (GRCm39)	S284T	probably damaging	Het
Ipo13	C	T	4: 117,762,213 (GRCm39)	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,392,204 (GRCm39)	E264G	probably benign	Het
Krt73	A	T	15: 101,704,830 (GRCm39)	L352*	probably null	Het
Mapk15	A	T	15: 75,867,926 (GRCm39)	K153*	probably null	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mcoln2	C	G	3: 145,881,473 (GRCm39)	R210G	probably damaging	Het
Miox	G	A	15: 89,219,784 (GRCm39)	V91I	probably benign	Het
Myh7b	A	G	2: 155,453,594 (GRCm39)	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,851,090 (GRCm39)		probably null	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Or4a69	A	G	2: 89,313,147 (GRCm39)	F111L	probably benign	Het
Or52d1	T	C	7: 103,755,812 (GRCm39)	S109P	probably damaging	Het
Or5b94	C	A	19: 12,652,224 (GRCm39)	F218L	probably benign	Het
Osbp2	A	C	11: 3,661,791 (GRCm39)	S754A	probably benign	Het
Pard3	C	T	8: 128,125,147 (GRCm39)	R712C	probably damaging	Het
Parp9	T	C	16: 35,768,711 (GRCm39)	I64T	probably damaging	Het
Pcm1	T	A	8: 41,710,974 (GRCm39)	H81Q	possibly damaging	Het
Pcnt	G	A	10: 76,225,030 (GRCm39)	P1825S	probably benign	Het
Pfkfb4	T	C	9: 108,827,957 (GRCm39)	V43A	probably benign	Het
Pgap1	A	T	1: 54,533,984 (GRCm39)	V643E	probably damaging	Het
Pip5k1a	T	C	3: 94,972,753 (GRCm39)	T433A	probably benign	Het
Pip5k1b	T	A	19: 24,356,411 (GRCm39)	M176L	probably benign	Het
Polg2	T	C	11: 106,667,958 (GRCm39)		probably benign	Het
Pomp	T	A	5: 147,812,323 (GRCm39)	H136Q	probably benign	Het
Ppfia4	A	T	1: 134,251,955 (GRCm39)		probably null	Het
Prdx2	G	A	8: 85,696,880 (GRCm39)	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,104 (GRCm39)	G70D	probably benign	Het
Rdh10	T	A	1: 16,176,489 (GRCm39)	I83N	probably damaging	Het
Rnf122	T	C	8: 31,614,877 (GRCm39)		probably benign	Het
Sik2	A	G	9: 50,810,775 (GRCm39)	M447T	possibly damaging	Het
Sla2	A	G	2: 156,725,507 (GRCm39)		probably null	Het
Slc51a	T	A	16: 32,296,425 (GRCm39)	I192L	probably benign	Het
Sorcs1	T	C	19: 50,367,329 (GRCm39)		probably benign	Het
Spata16	T	A	3: 26,967,416 (GRCm39)	F389I	probably damaging	Het
Srebf1	G	A	11: 60,092,630 (GRCm39)	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,049,261 (GRCm39)	V736A	probably benign	Het
Tbx15	C	A	3: 99,259,182 (GRCm39)	T351N	possibly damaging	Het
Tep1	A	G	14: 51,089,373 (GRCm39)		probably null	Het
Tmed11	T	A	5: 108,925,278 (GRCm39)	D178V	probably damaging	Het
Traf7	A	G	17: 24,732,900 (GRCm39)	F110L	probably benign	Het
Ubqlnl	C	T	7: 103,799,399 (GRCm39)	V33M	probably damaging	Het
Vcan	A	T	13: 89,826,192 (GRCm39)		probably null	Het
Vmn1r194	A	G	13: 22,429,217 (GRCm39)	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,954,044 (GRCm39)	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het
Wdr48	G	A	9: 119,747,634 (GRCm39)		probably benign	Het
Wwp1	G	A	4: 19,641,725 (GRCm39)		probably benign	Het
Zfp1001	A	T	2: 150,165,761 (GRCm39)		probably benign	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp839	G	A	12: 110,827,308 (GRCm39)	E400K	possibly damaging	Het

Other mutations in Rin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Rin3	APN	12	102,339,862 (GRCm39)	missense	probably damaging	1.00
IGL01521:Rin3	APN	12	102,335,307 (GRCm39)	missense	probably benign	0.00
PIT4495001:Rin3	UTSW	12	102,335,295 (GRCm39)	missense	probably benign	0.02
R0109:Rin3	UTSW	12	102,279,340 (GRCm39)	missense	possibly damaging	0.74
R0504:Rin3	UTSW	12	102,353,823 (GRCm39)	nonsense	probably null
R0699:Rin3	UTSW	12	102,335,834 (GRCm39)	missense	probably damaging	0.98
R1499:Rin3	UTSW	12	102,335,018 (GRCm39)	missense	unknown
R1733:Rin3	UTSW	12	102,335,589 (GRCm39)	nonsense	probably null
R1743:Rin3	UTSW	12	102,356,355 (GRCm39)	missense	possibly damaging	0.87
R2911:Rin3	UTSW	12	102,339,843 (GRCm39)	missense	probably benign	0.43
R2961:Rin3	UTSW	12	102,279,305 (GRCm39)	nonsense	probably null
R3153:Rin3	UTSW	12	102,334,800 (GRCm39)	missense	unknown
R3932:Rin3	UTSW	12	102,356,342 (GRCm39)	missense	probably damaging	0.98
R4498:Rin3	UTSW	12	102,335,939 (GRCm39)	missense	probably damaging	1.00
R4803:Rin3	UTSW	12	102,327,642 (GRCm39)	intron	probably benign
R4985:Rin3	UTSW	12	102,334,821 (GRCm39)	missense	unknown
R5300:Rin3	UTSW	12	102,335,929 (GRCm39)	missense	probably benign	0.29
R5363:Rin3	UTSW	12	102,292,093 (GRCm39)	missense	probably damaging	0.97
R5414:Rin3	UTSW	12	102,356,116 (GRCm39)	nonsense	probably null
R5458:Rin3	UTSW	12	102,339,975 (GRCm39)	missense	probably damaging	0.99
R5503:Rin3	UTSW	12	102,279,314 (GRCm39)	missense	probably benign	0.17
R5534:Rin3	UTSW	12	102,353,891 (GRCm39)	missense	probably damaging	1.00
R5599:Rin3	UTSW	12	102,356,188 (GRCm39)	missense	probably damaging	1.00
R5752:Rin3	UTSW	12	102,279,378 (GRCm39)	start gained	probably benign
R5874:Rin3	UTSW	12	102,356,102 (GRCm39)	missense	probably damaging	1.00
R6467:Rin3	UTSW	12	102,335,584 (GRCm39)	missense	probably benign	0.06
R7250:Rin3	UTSW	12	102,334,893 (GRCm39)	missense	unknown
R7264:Rin3	UTSW	12	102,356,374 (GRCm39)	missense	probably benign	0.01
R7514:Rin3	UTSW	12	102,335,909 (GRCm39)	nonsense	probably null
R7534:Rin3	UTSW	12	102,317,200 (GRCm39)	missense	unknown
R7837:Rin3	UTSW	12	102,335,024 (GRCm39)	missense	unknown
R7875:Rin3	UTSW	12	102,335,735 (GRCm39)	missense	probably damaging	1.00
R7983:Rin3	UTSW	12	102,335,418 (GRCm39)	missense	probably benign	0.14
R8014:Rin3	UTSW	12	102,327,630 (GRCm39)	nonsense	probably null
R8187:Rin3	UTSW	12	102,292,066 (GRCm39)	missense	unknown
R8757:Rin3	UTSW	12	102,339,861 (GRCm39)	missense	probably damaging	1.00
R8759:Rin3	UTSW	12	102,339,861 (GRCm39)	missense	probably damaging	1.00
R8841:Rin3	UTSW	12	102,335,537 (GRCm39)	missense	probably benign	0.16
R8843:Rin3	UTSW	12	102,335,857 (GRCm39)	missense	probably benign	0.08
R9050:Rin3	UTSW	12	102,335,738 (GRCm39)	missense	probably damaging	1.00
R9197:Rin3	UTSW	12	102,335,306 (GRCm39)	missense	probably benign	0.03
R9272:Rin3	UTSW	12	102,335,691 (GRCm39)	missense	probably damaging	1.00
R9424:Rin3	UTSW	12	102,335,589 (GRCm39)	nonsense	probably null
R9517:Rin3	UTSW	12	102,334,895 (GRCm39)	missense	unknown
R9576:Rin3	UTSW	12	102,335,589 (GRCm39)	nonsense	probably null
Z1177:Rin3	UTSW	12	102,292,121 (GRCm39)	missense	unknown

Posted On

2013-01-31