Mutagenetix > Incidental Mutation

Incidental Mutation 'R1174:Rin1'

99863

Institutional Source

Beutler Lab

Gene Symbol

Rin1

Ensembl Gene

ENSMUSG00000024883

Gene Name

Ras and Rab interactor 1

Synonyms

MMRRC Submission

039247-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1174 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

5100509-5107099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5105231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 764 (Q764K)

Ref Sequence

ENSEMBL: ENSMUSP00000025818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025818] [ENSMUST00000224178] [ENSMUST00000224288] [ENSMUST00000224363] [ENSMUST00000225427] [ENSMUST00000225799]

AlphaFold

Q921Q7

Predicted Effect

probably benign
Transcript: ENSMUST00000025818
AA Change: Q764K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: Q764K

Domain	Start	End	E-Value	Type
SH2	66	153	2.16e-5	SMART
low complexity region	241	264	N/A	INTRINSIC
low complexity region	286	300	N/A	INTRINSIC
low complexity region	307	341	N/A	INTRINSIC
low complexity region	405	422	N/A	INTRINSIC
low complexity region	432	454	N/A	INTRINSIC
VPS9	478	596	2.29e-64	SMART
RA	613	694	1.14e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224032

Predicted Effect

probably benign
Transcript: ENSMUST00000224178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224254

Predicted Effect

probably benign
Transcript: ENSMUST00000224288

Predicted Effect

probably benign
Transcript: ENSMUST00000224363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225203

Predicted Effect

probably benign
Transcript: ENSMUST00000225427
AA Change: Q753K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000225799

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an enhanced conditioned response in cued conditioning protocols and avoidance learning tests. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 16,935,446 (GRCm39)	H214L	probably benign	Het
Actn3	A	G	19: 4,914,784 (GRCm39)	L477P	probably damaging	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,837 (GRCm39)	F81S	probably damaging	Het
Alpk1	T	A	3: 127,474,459 (GRCm39)	S515C	probably damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Borcs5	T	A	6: 134,687,096 (GRCm39)	N150K	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cox4i1	C	A	8: 121,400,789 (GRCm39)	N151K	probably benign	Het
Cpeb4	T	C	11: 31,870,472 (GRCm39)	L432P	probably damaging	Het
Dnajb11	T	A	16: 22,689,423 (GRCm39)	D281E	probably damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Fes	A	T	7: 80,027,699 (GRCm39)	I815N	probably damaging	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm1818	A	G	12: 48,602,982 (GRCm39)		noncoding transcript	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hdac1-ps	A	T	17: 78,799,507 (GRCm39)	Y166F	probably benign	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Klf6	A	G	13: 5,911,711 (GRCm39)	D25G	probably benign	Het
Laptm4a	T	C	12: 8,986,716 (GRCm39)	V258A	probably damaging	Het
Lypd6b	C	T	2: 49,833,609 (GRCm39)	A83V	possibly damaging	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Mfsd13a	T	A	19: 46,363,125 (GRCm39)	I511N	probably benign	Het
Mrm3	T	C	11: 76,140,850 (GRCm39)	V286A	probably damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Neurl4	T	C	11: 69,794,547 (GRCm39)		probably null	Het
Pclo	T	C	5: 14,727,660 (GRCm39)		probably benign	Het
Pcnt	A	T	10: 76,228,878 (GRCm39)		probably null	Het
Pik3r4	G	T	9: 105,540,373 (GRCm39)	G754C	probably damaging	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Rgs12	T	A	5: 35,123,809 (GRCm39)	C531S	probably benign	Het
Robo4	C	T	9: 37,324,348 (GRCm39)	R959W	probably damaging	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,384,608 (GRCm39)	P195L	probably benign	Het
Sos1	A	C	17: 80,753,037 (GRCm39)	Y323*	probably null	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Ssxb8	T	G	X: 8,556,062 (GRCm39)	H88P	probably damaging	Het
Tas2r140	T	C	6: 133,031,834 (GRCm39)	E308G	probably benign	Het
Tdo2	A	T	3: 81,881,683 (GRCm39)	S40R	probably damaging	Het
Tle4	C	T	19: 14,445,626 (GRCm39)	V207I	probably benign	Het
Txlnb	A	G	10: 17,718,504 (GRCm39)	N445S	probably benign	Het
Ubap2l	A	T	3: 89,930,807 (GRCm39)	S413T	probably benign	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vwa1	C	T	4: 155,857,723 (GRCm39)	G25D	probably damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het

Other mutations in Rin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Rin1	APN	19	5,101,404 (GRCm39)	missense	probably benign	0.43
IGL00504:Rin1	APN	19	5,102,438 (GRCm39)	missense	probably benign	0.00
IGL01750:Rin1	APN	19	5,102,064 (GRCm39)	missense	possibly damaging	0.74
IGL02828:Rin1	APN	19	5,103,118 (GRCm39)	missense	possibly damaging	0.82
IGL02867:Rin1	APN	19	5,103,198 (GRCm39)	missense	probably damaging	1.00
IGL02879:Rin1	APN	19	5,101,383 (GRCm39)	missense	probably damaging	0.99
IGL03055:Rin1	UTSW	19	5,103,187 (GRCm39)	missense	probably benign
R0193:Rin1	UTSW	19	5,102,680 (GRCm39)	missense	probably damaging	0.96
R1712:Rin1	UTSW	19	5,105,171 (GRCm39)	missense	probably benign	0.00
R2656:Rin1	UTSW	19	5,102,204 (GRCm39)	missense	probably damaging	1.00
R3930:Rin1	UTSW	19	5,103,002 (GRCm39)	missense	probably benign	0.14
R4704:Rin1	UTSW	19	5,105,018 (GRCm39)	missense	probably damaging	1.00
R5326:Rin1	UTSW	19	5,102,652 (GRCm39)	missense	probably damaging	1.00
R6778:Rin1	UTSW	19	5,104,914 (GRCm39)	missense	probably damaging	1.00
R7107:Rin1	UTSW	19	5,100,801 (GRCm39)	unclassified	probably benign
R7391:Rin1	UTSW	19	5,100,888 (GRCm39)	start codon destroyed	probably null	0.99
R7535:Rin1	UTSW	19	5,102,564 (GRCm39)	missense	probably benign	0.01
R7818:Rin1	UTSW	19	5,102,219 (GRCm39)	missense	probably benign	0.03
R8037:Rin1	UTSW	19	5,101,852 (GRCm39)	missense	probably damaging	1.00
R8336:Rin1	UTSW	19	5,105,013 (GRCm39)	missense	possibly damaging	0.75
R8543:Rin1	UTSW	19	5,102,100 (GRCm39)	missense	probably damaging	1.00
R8845:Rin1	UTSW	19	5,104,947 (GRCm39)	missense	probably damaging	0.98
R9120:Rin1	UTSW	19	5,103,048 (GRCm39)	missense	probably damaging	1.00
R9254:Rin1	UTSW	19	5,103,249 (GRCm39)	missense	probably damaging	1.00
R9419:Rin1	UTSW	19	5,103,735 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15