Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03188:Rimoc1'

412510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rimoc1

Ensembl Gene

ENSMUSG00000041935

Gene Name

RAB7A interacting MON1-CCZ1 complex subunit 1

Synonyms

AW549877

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03188

Quality Score

Status

Chromosome

Chromosomal Location

4011517-4025226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4018187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 163 (Y163H)

Ref Sequence

ENSEMBL: ENSMUSP00000038476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046633]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000046633
AA Change: Y163H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038476
Gene: ENSMUSG00000041935
AA Change: Y163H

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228421

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,425,656 (GRCm39)	C1202F	probably damaging	Het
Ago2	C	T	15: 72,995,182 (GRCm39)	V466I	probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aptx	A	T	4: 40,695,143 (GRCm39)		probably null	Het
Aurka	A	T	2: 172,205,688 (GRCm39)	D123E	possibly damaging	Het
Btaf1	T	C	19: 36,926,508 (GRCm39)	I60T	possibly damaging	Het
Ccdc154	A	T	17: 25,383,067 (GRCm39)		probably null	Het
Cct5	T	C	15: 31,598,148 (GRCm39)	N55S	probably benign	Het
Cntnap3	A	G	13: 64,929,559 (GRCm39)	S547P	probably damaging	Het
Efl1	T	A	7: 82,320,909 (GRCm39)	I114N	probably damaging	Het
Gprin1	T	C	13: 54,886,465 (GRCm39)	D603G	probably benign	Het
Il16	A	G	7: 83,337,371 (GRCm39)	S115P	probably benign	Het
Kalrn	C	A	16: 34,134,562 (GRCm39)	V401L	probably benign	Het
Kcnq4	T	A	4: 120,561,623 (GRCm39)	K482I	possibly damaging	Het
L3mbtl3	C	T	10: 26,218,515 (GRCm39)	A114T	unknown	Het
Lig1	G	A	7: 13,045,032 (GRCm39)		probably benign	Het
Lnx1	G	A	5: 74,780,924 (GRCm39)	T199M	probably damaging	Het
Mapk13	A	G	17: 28,995,557 (GRCm39)		probably benign	Het
Mfsd2b	A	T	12: 4,916,538 (GRCm39)		probably null	Het
Mrpl3	A	G	9: 104,934,264 (GRCm39)	D137G	probably benign	Het
Muc15	A	G	2: 110,562,044 (GRCm39)	D160G	probably benign	Het
Myh4	T	C	11: 67,137,369 (GRCm39)		probably null	Het
Nipa2	T	G	7: 55,582,680 (GRCm39)	N355T	probably benign	Het
Or11h4	A	T	14: 50,974,315 (GRCm39)	Y101*	probably null	Het
Or2v2	T	C	11: 49,004,536 (GRCm39)	N6D	probably damaging	Het
Or51a43	A	G	7: 103,717,945 (GRCm39)	S98P	possibly damaging	Het
Or5p60	T	C	7: 107,723,841 (GRCm39)	T210A	probably benign	Het
Pfkm	G	T	15: 98,021,124 (GRCm39)		probably null	Het
Ppip5k1	A	G	2: 121,157,327 (GRCm39)		probably benign	Het
Ppp1r18	A	G	17: 36,178,857 (GRCm39)	D244G	possibly damaging	Het
Scn2a	T	C	2: 65,501,997 (GRCm39)	S107P	probably damaging	Het
Scn5a	A	T	9: 119,351,632 (GRCm39)	I783N	probably damaging	Het
Snx1	A	G	9: 66,001,734 (GRCm39)	W307R	probably damaging	Het
Spata31g1	A	G	4: 42,971,225 (GRCm39)	Y186C	possibly damaging	Het
Stk11ip	G	A	1: 75,511,079 (GRCm39)	V928M	probably benign	Het
Tgm4	A	G	9: 122,874,101 (GRCm39)	M114V	probably null	Het
Trpm2	G	A	10: 77,754,743 (GRCm39)	R1248C	probably benign	Het
Txnrd1	T	C	10: 82,720,880 (GRCm39)	I347T	possibly damaging	Het
Unc5a	A	G	13: 55,147,316 (GRCm39)	S106G	probably damaging	Het
Vmn2r85	T	C	10: 130,254,612 (GRCm39)	M691V	probably benign	Het
Zfp58	T	A	13: 67,639,528 (GRCm39)	Q321L	probably benign	Het

Other mutations in Rimoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Rimoc1	APN	15	4,018,118 (GRCm39)	missense	probably damaging	1.00
IGL01527:Rimoc1	APN	15	4,018,165 (GRCm39)	missense	probably damaging	1.00
IGL02170:Rimoc1	APN	15	4,015,848 (GRCm39)	missense	probably benign
R0020:Rimoc1	UTSW	15	4,021,350 (GRCm39)	splice site	probably benign
R0020:Rimoc1	UTSW	15	4,021,350 (GRCm39)	splice site	probably benign
R0123:Rimoc1	UTSW	15	4,015,776 (GRCm39)	missense	probably damaging	0.98
R0134:Rimoc1	UTSW	15	4,015,776 (GRCm39)	missense	probably damaging	0.98
R0225:Rimoc1	UTSW	15	4,015,776 (GRCm39)	missense	probably damaging	0.98
R0631:Rimoc1	UTSW	15	4,015,971 (GRCm39)	splice site	probably benign
R1070:Rimoc1	UTSW	15	4,015,848 (GRCm39)	missense	probably benign	0.22
R4437:Rimoc1	UTSW	15	4,021,318 (GRCm39)	missense	probably damaging	1.00
R6186:Rimoc1	UTSW	15	4,015,851 (GRCm39)	missense	possibly damaging	0.67
R7663:Rimoc1	UTSW	15	4,018,165 (GRCm39)	missense	probably damaging	1.00
R8027:Rimoc1	UTSW	15	4,015,694 (GRCm39)	missense	probably benign	0.00
R9293:Rimoc1	UTSW	15	4,021,336 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02