Mutagenetix > Incidental Mutation

Incidental Mutation 'R8336:Rin1'

644647

Institutional Source

Beutler Lab

Gene Symbol

Rin1

Ensembl Gene

ENSMUSG00000024883

Gene Name

Ras and Rab interactor 1

Synonyms

MMRRC Submission

067729-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5100509-5107099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5105013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 691 (H691L)

Ref Sequence

ENSEMBL: ENSMUSP00000025818 (fasta)

Gene Model

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

AlphaFold

Q921Q7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025818
AA Change: H691L

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: H691L

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

probably benign
Transcript: ENSMUST00000224288

Predicted Effect

probably benign
Transcript: ENSMUST00000224363

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225427
AA Change: H680L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000225799

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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
4930578I06Rik	T	C	14: 64,223,545 (GRCm39)	K77R	probably benign	Het
Acta1	C	T	8: 124,619,310 (GRCm39)	E261K	possibly damaging	Het
Adamts19	A	T	18: 59,140,444 (GRCm39)	I848L	possibly damaging	Het
Adck1	C	A	12: 88,335,249 (GRCm39)	T45K	probably damaging	Het
Agl	A	G	3: 116,566,495 (GRCm39)	F291S		Het
BC048671	T	C	6: 90,279,849 (GRCm39)	V24A	probably benign	Het
Brsk2	C	T	7: 141,538,211 (GRCm39)	A119V	probably damaging	Het
Cacnb1	A	G	11: 97,894,119 (GRCm39)	Y468H	probably benign	Het
Cep89	A	T	7: 35,127,141 (GRCm39)	K501*	probably null	Het
Ces2a	T	A	8: 105,465,665 (GRCm39)	F306I	probably damaging	Het
Col6a4	T	A	9: 105,952,528 (GRCm39)	I457F	possibly damaging	Het
Cts7	A	G	13: 61,504,723 (GRCm39)		probably null	Het
Dnah12	C	A	14: 26,432,220 (GRCm39)	T444K	probably benign	Het
Dusp5	T	C	19: 53,529,406 (GRCm39)	S270P	probably damaging	Het
Eppk1	T	TCAC	15: 75,992,152 (GRCm39)		probably null	Het
Esam	T	A	9: 37,448,362 (GRCm39)	I267K	probably benign	Het
Fastkd1	A	G	2: 69,542,489 (GRCm39)	V106A	probably damaging	Het
Fsip2	A	G	2: 82,821,099 (GRCm39)	T5611A	possibly damaging	Het
Gcc2	A	G	10: 58,108,189 (GRCm39)	D933G	probably damaging	Het
Gm16506	T	A	14: 43,964,825 (GRCm39)	H39L		Het
Gm5145	A	T	17: 20,790,687 (GRCm39)	N22Y	probably damaging	Het
Gm6465	A	T	5: 11,896,780 (GRCm39)	R50W	probably damaging	Het
Hivep1	C	A	13: 42,309,405 (GRCm39)	D548E	probably benign	Het
Hnrnpl	C	A	7: 28,513,462 (GRCm39)	S178R	possibly damaging	Het
Hsp90b1	A	G	10: 86,526,968 (GRCm39)	*803Q	probably null	Het
Kdm5a	A	G	6: 120,396,407 (GRCm39)	N1088S	probably benign	Het
Klk1b11	C	T	7: 43,425,865 (GRCm39)		probably benign	Het
Kmt5b	T	C	19: 3,865,531 (GRCm39)	I865T	probably damaging	Het
Map3k10	C	A	7: 27,372,884 (GRCm39)	R189L	probably benign	Het
Nav3	A	G	10: 109,603,430 (GRCm39)	S1040P	probably damaging	Het
Neb	T	C	2: 52,163,902 (GRCm39)	S2019G	probably damaging	Het
Nfrkb	T	C	9: 31,314,815 (GRCm39)	V545A	possibly damaging	Het
Nkd2	G	T	13: 73,969,192 (GRCm39)	P425T	probably damaging	Het
Or5h26	T	C	16: 58,987,918 (GRCm39)	Y196C	possibly damaging	Het
Ostm1	A	G	10: 42,572,334 (GRCm39)	Y239C	probably damaging	Het
Pabpc1l	A	G	2: 163,874,204 (GRCm39)	D203G	probably benign	Het
Pcdhb21	T	A	18: 37,648,942 (GRCm39)	Y690*	probably null	Het
Pla2r1	C	A	2: 60,253,027 (GRCm39)	V1355F	possibly damaging	Het
Pms1	C	T	1: 53,245,985 (GRCm39)	S518N	probably benign	Het
Rab44	A	T	17: 29,367,249 (GRCm39)	*726C	probably null	Het
Slc30a9	T	A	5: 67,473,058 (GRCm39)	Y47*	probably null	Het
Sp9	T	A	2: 73,104,796 (GRCm39)	V450D	possibly damaging	Het
Sstr3	T	C	15: 78,424,693 (GRCm39)	N18S	probably damaging	Het
Sugct	T	A	13: 17,032,504 (GRCm39)	Y416F	probably benign	Het
Tcf3	T	C	10: 80,257,000 (GRCm39)	T75A	probably benign	Het
Tenm3	A	G	8: 48,746,808 (GRCm39)	V999A	probably damaging	Het
Tfap2c	T	A	2: 172,399,112 (GRCm39)	L453*	probably null	Het
Trip12	A	T	1: 84,743,762 (GRCm39)	M515K	probably benign	Het
Vstm2a	G	A	11: 16,207,801 (GRCm39)		probably benign	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
R1174:Rin1	UTSW	19	5,105,231 (GRCm39)	missense	probably benign	0.02
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
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

PCR Primer
(F):5'- GTGCCAACCAAACAGAGCTG -3'
(R):5'- AACAGCTATCCGAGGTTTCC -3'

Sequencing Primer
(F):5'- CCAAACAGAGCTGAGGATTTGTTC -3'
(R):5'- GAGGTTTCCCTTCTCTGTTTAGAC -3'

Posted On

2020-09-02