Mutagenetix > Incidental Mutation

Incidental Mutation 'R3930:Rin1'

308452

Institutional Source

Beutler Lab

Gene Symbol

Rin1

Ensembl Gene

ENSMUSG00000024883

Gene Name

Ras and Rab interactor 1

Synonyms

MMRRC Submission

040917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5100509-5107099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5103002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 430 (L430F)

Ref Sequence

ENSEMBL: ENSMUSP00000025818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025818] [ENSMUST00000116567] [ENSMUST00000224178] [ENSMUST00000224288] [ENSMUST00000224363] [ENSMUST00000225427] [ENSMUST00000225799]

AlphaFold

Q921Q7

Predicted Effect

probably benign
Transcript: ENSMUST00000025818
AA Change: L430F

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: L430F

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: ENSMUST00000116567

SMART Domains

Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268

Domain	Start	End	E-Value	Type
low complexity region	29	59	N/A	INTRINSIC
Pfam:Sds3	60	209	5.3e-23	PFAM

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

probably benign
Transcript: ENSMUST00000225427
AA Change: L419F

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000225799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225203

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	C	T	4: 144,396,698 (GRCm39)	E345K	probably damaging	Het
Bpifb1	A	G	2: 154,057,242 (GRCm39)	N400S	possibly damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Crhr1	T	A	11: 104,044,377 (GRCm39)	S22T	probably benign	Het
Cyp4a10	G	T	4: 115,381,980 (GRCm39)	V221L	probably benign	Het
D1Pas1	G	T	1: 186,700,477 (GRCm39)	W135C	probably damaging	Het
Dcbld2	T	C	16: 58,285,701 (GRCm39)	L620P	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnm3	T	C	1: 161,911,699 (GRCm39)	D66G	probably damaging	Het
Fzd10	G	A	5: 128,679,476 (GRCm39)	V399M	probably damaging	Het
Gm10801	T	A	2: 98,494,361 (GRCm39)	I146N	possibly damaging	Het
Gm525	T	A	11: 88,965,830 (GRCm39)		probably null	Het
Gpr37l1	T	C	1: 135,089,100 (GRCm39)	I322V	probably benign	Het
Grid2ip	T	G	5: 143,371,794 (GRCm39)	S679R	probably damaging	Het
Gyg1	A	T	3: 20,209,189 (GRCm39)	S15T	probably benign	Het
Hace1	G	A	10: 45,587,604 (GRCm39)	C901Y	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,949,018 (GRCm39)	A27V	probably benign	Het
Hsf5	A	G	11: 87,522,508 (GRCm39)	Y367C	probably damaging	Het
Igf2r	T	C	17: 12,924,716 (GRCm39)	I1034V	probably benign	Het
Itpr1	A	G	6: 108,371,802 (GRCm39)	T1159A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc14	T	C	15: 76,597,765 (GRCm39)	V165A	probably benign	Het
Lrrc45	C	T	11: 120,609,503 (GRCm39)	A422V	probably benign	Het
Lrrk2	T	A	15: 91,651,664 (GRCm39)		probably null	Het
Map3k4	T	C	17: 12,454,880 (GRCm39)	H1370R	possibly damaging	Het
Mpo	A	G	11: 87,691,866 (GRCm39)	Y433C	probably damaging	Het
Nfkbil1	G	T	17: 35,439,932 (GRCm39)	Q194K	probably benign	Het
Nin	C	T	12: 70,125,016 (GRCm39)	G102E	probably damaging	Het
Nmt1	T	C	11: 102,943,059 (GRCm39)	V138A	probably benign	Het
Optc	T	A	1: 133,828,920 (GRCm39)	R176*	probably null	Het
Or10aa3	A	T	1: 173,878,076 (GRCm39)	I46F	probably damaging	Het
Or4c110	A	G	2: 88,832,377 (GRCm39)	F85S	probably benign	Het
Or52ae9	A	C	7: 103,389,794 (GRCm39)	Y218D	probably damaging	Het
Or6n2	T	A	1: 173,897,147 (GRCm39)	F94L	probably damaging	Het
Oxct1	T	A	15: 4,066,601 (GRCm39)	N72K	possibly damaging	Het
Plxna2	G	A	1: 194,477,218 (GRCm39)	A1243T	probably benign	Het
Ros1	A	T	10: 52,070,944 (GRCm39)	S37T	possibly damaging	Het
Rrp36	G	T	17: 46,983,732 (GRCm39)	Q27K	probably damaging	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Sfrp5	T	G	19: 42,190,257 (GRCm39)	Y65S	probably damaging	Het
Slc25a54	T	A	3: 109,023,820 (GRCm39)	L472I	probably benign	Het
Slc35d3	T	C	10: 19,724,605 (GRCm39)	E417G	probably damaging	Het
Sumf2	A	G	5: 129,878,820 (GRCm39)	D52G	probably benign	Het
Sympk	A	G	7: 18,781,447 (GRCm39)	N801S	possibly damaging	Het
Taf7l2	G	T	10: 115,948,540 (GRCm39)	Q329K	possibly damaging	Het
Tcstv2c	G	A	13: 120,616,368 (GRCm39)	C69Y	probably damaging	Het
Tmem38b	T	C	4: 53,854,398 (GRCm39)	F210S	probably damaging	Het
Tnks	T	A	8: 35,407,966 (GRCm39)	H254L	probably damaging	Het
Trappc10	A	T	10: 78,046,237 (GRCm39)	V451E	probably benign	Het
Trim43a	A	T	9: 88,465,131 (GRCm39)	I153F	probably benign	Het
Tulp1	T	C	17: 28,572,683 (GRCm39)	N213S	probably damaging	Het
Ubr1	T	C	2: 120,746,951 (GRCm39)	D830G	probably benign	Het
Uqcc3	C	T	19: 8,858,069 (GRCm39)		probably null	Het
Vmn2r26	T	A	6: 124,002,938 (GRCm39)	M116K	probably benign	Het
Zscan12	A	G	13: 21,552,800 (GRCm39)	Q208R	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
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

PCR Primer
(F):5'- TGAGAAGCTGCTACCACCAG -3'
(R):5'- TCAGGGCTGTGTATAGCAGC -3'

Sequencing Primer
(F):5'- TGGCCTCCACAGGTTCATG -3'
(R):5'- CACTTGACCTGGGCACTAG -3'

Posted On

2015-04-17