Mutagenetix > Incidental Mutation

Incidental Mutation 'R1743:Rin3'

200533

Institutional Source

Beutler Lab

Gene Symbol

Rin3

Ensembl Gene

ENSMUSG00000044456

Gene Name

Ras and Rab interactor 3

Synonyms

MMRRC Submission

039775-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102249307-102357114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102356355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 965 (D965E)

Ref Sequence

ENSEMBL: ENSMUSP00000060771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021607] [ENSMUST00000056950] [ENSMUST00000110020] [ENSMUST00000133820]

AlphaFold

P59729

Predicted Effect

probably benign
Transcript: ENSMUST00000021607

SMART Domains

Protein: ENSMUSP00000021607
Gene: ENSMUSG00000021190

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:Peptidase_C13	31	288	8e-120	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056950
AA Change: D965E

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060771
Gene: ENSMUSG00000044456
AA Change: D965E

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: ENSMUST00000110020

SMART Domains

Protein: ENSMUSP00000105647
Gene: ENSMUSG00000021190

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:Peptidase_C13	31	288	8e-120	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133820
AA Change: D885E

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122646
Gene: ENSMUSG00000044456
AA Change: D885E

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	A	11: 53,259,522 (GRCm39)	M11K	possibly damaging	Het
Ank2	T	C	3: 126,722,324 (GRCm39)	D88G	probably damaging	Het
Arhgap32	A	G	9: 32,170,727 (GRCm39)	E1169G	probably benign	Het
Atp7b	A	T	8: 22,496,403 (GRCm39)	V865E	probably damaging	Het
Bcl2l13	T	A	6: 120,825,504 (GRCm39)	Y13*	probably null	Het
Birc6	A	G	17: 74,886,751 (GRCm39)	Q693R	possibly damaging	Het
Bub1	T	C	2: 127,655,770 (GRCm39)	D520G	probably damaging	Het
Ccdc15	A	T	9: 37,188,773 (GRCm39)	Y770*	probably null	Het
Cenpf	T	C	1: 189,386,460 (GRCm39)	E1940G	probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cmya5	A	G	13: 93,233,825 (GRCm39)	V421A	probably benign	Het
Cnnm1	A	T	19: 43,460,352 (GRCm39)	Y698F	possibly damaging	Het
Cnst	C	T	1: 179,437,957 (GRCm39)	T507I	probably benign	Het
Coq8a	T	C	1: 180,009,794 (GRCm39)	M4V	probably benign	Het
Csmd3	A	G	15: 48,485,485 (GRCm39)	L140P	probably damaging	Het
Cul2	A	T	18: 3,426,851 (GRCm39)	I431F	probably damaging	Het
Dnah8	G	T	17: 30,988,625 (GRCm39)	E3198D	probably benign	Het
Dnai3	C	A	3: 145,803,017 (GRCm39)	R58L	possibly damaging	Het
Epn2	T	A	11: 61,437,237 (GRCm39)	I112F	possibly damaging	Het
Ext2	T	C	2: 93,560,570 (GRCm39)	E532G	probably damaging	Het
Fndc3a	A	T	14: 72,889,521 (GRCm39)	V37E	probably damaging	Het
Gabbr2	A	G	4: 46,677,603 (GRCm39)	F759S	possibly damaging	Het
Ghr	G	A	15: 3,349,723 (GRCm39)	P485L	probably benign	Het
Glipr1l2	G	T	10: 111,928,470 (GRCm39)	V122L	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm6871	G	T	7: 41,195,876 (GRCm39)	T287K	probably damaging	Het
Gm7275	A	G	16: 47,894,120 (GRCm39)		noncoding transcript	Het
Hephl1	C	T	9: 15,001,364 (GRCm39)	V254I	probably damaging	Het
Hnf4a	C	A	2: 163,408,259 (GRCm39)	Q362K	possibly damaging	Het
Kcne3	C	T	7: 99,833,631 (GRCm39)	R83C	probably damaging	Het
Klb	C	A	5: 65,533,204 (GRCm39)	N504K	probably damaging	Het
Loxl2	T	A	14: 69,929,851 (GRCm39)	I743N	possibly damaging	Het
Lrrc9	A	T	12: 72,502,891 (GRCm39)	L287F	probably damaging	Het
Mcm3ap	C	T	10: 76,320,508 (GRCm39)	P822L	possibly damaging	Het
Nacc2	T	C	2: 25,950,155 (GRCm39)	N527S	probably benign	Het
Ncam1	G	T	9: 49,468,445 (GRCm39)	P338H	probably damaging	Het
Nfkbiz	G	T	16: 55,636,757 (GRCm39)	Q515K	possibly damaging	Het
Nipsnap2	T	C	5: 129,834,149 (GRCm39)	L263P	probably damaging	Het
Nlrp1a	A	T	11: 71,015,032 (GRCm39)	S73T	probably benign	Het
Nomo1	G	A	7: 45,719,461 (GRCm39)		probably null	Het
Nos3	G	A	5: 24,582,310 (GRCm39)	G594D	probably benign	Het
Oprm1	A	G	10: 6,780,105 (GRCm39)	I256V	probably damaging	Het
Or10ak16	A	G	4: 118,750,723 (GRCm39)	T148A	probably benign	Het
Or10n1	A	T	9: 39,524,916 (GRCm39)	T18S	possibly damaging	Het
Or2b2	A	G	13: 21,887,620 (GRCm39)	I150V	probably benign	Het
Oxct2a	A	T	4: 123,217,309 (GRCm39)	L24Q	possibly damaging	Het
Pcdhb14	T	G	18: 37,581,231 (GRCm39)	S112R	probably benign	Het
Polr2a	A	G	11: 69,630,329 (GRCm39)	I1246T	probably damaging	Het
Ppil4	A	T	10: 7,683,145 (GRCm39)	K327N	probably damaging	Het
Pramel30	T	C	4: 144,059,575 (GRCm39)	S429P	probably benign	Het
Pstpip1	T	C	9: 56,033,214 (GRCm39)	Y249H	probably damaging	Het
Qrsl1	A	T	10: 43,757,511 (GRCm39)	V369E	probably damaging	Het
Ranbp10	G	T	8: 106,506,610 (GRCm39)	P237T	probably damaging	Het
Rapgef6	A	G	11: 54,567,110 (GRCm39)	N1097S	probably damaging	Het
Repin1	T	A	6: 48,574,684 (GRCm39)	S538T	probably damaging	Het
Rims2	A	T	15: 39,543,046 (GRCm39)	M1151L	probably benign	Het
Sdc2	A	G	15: 33,028,224 (GRCm39)	D114G	probably benign	Het
Slc25a30	C	A	14: 76,012,523 (GRCm39)	A42S	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Ssh2	T	A	11: 77,328,582 (GRCm39)	F383I	probably damaging	Het
St8sia1	A	T	6: 142,774,742 (GRCm39)	V279E	probably damaging	Het
Tacc2	C	A	7: 130,228,328 (GRCm39)	S1690*	probably null	Het
Taf1b	A	G	12: 24,597,177 (GRCm39)	D372G	possibly damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem165	G	T	5: 76,355,673 (GRCm39)	G272C	probably damaging	Het
Tsc22d2	TCAGTTAACACCTATGAACAGT	TCAGT	3: 58,324,960 (GRCm39)		probably null	Het
Tssk4	C	A	14: 55,888,488 (GRCm39)	A119D	probably damaging	Het
Usp9y	A	G	Y: 1,316,727 (GRCm39)	Y1941H	probably damaging	Het
Vmn2r42	A	T	7: 8,187,264 (GRCm39)	M786K	probably benign	Het
Wdfy3	G	T	5: 101,991,931 (GRCm39)	T3470K	probably benign	Het
Zc3h14	T	C	12: 98,745,448 (GRCm39)	V479A	probably benign	Het
Zfp821	G	A	8: 110,450,796 (GRCm39)	R263Q	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTGTGTGTCCTACCTGAAGCCC -3'
(R):5'- TTGGTGCCTCAGGCAATGACTC -3'

Sequencing Primer
(F):5'- TACCTGAAGCCCGAGCAG -3'
(R):5'- GCAATGACTCTACCTGATTGGC -3'

Posted On

2014-05-23