Mutagenetix > Incidental Mutation

Incidental Mutation 'R0020:Rimoc1'

8352

Institutional Source

Beutler Lab

Gene Symbol

Rimoc1

Ensembl Gene

ENSMUSG00000041935

Gene Name

RAB7A interacting MON1-CCZ1 complex subunit 1

Synonyms

AW549877

MMRRC Submission

038315-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0020 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

4011517-4025226 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 4021350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038476 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046633

SMART Domains

Protein: ENSMUSP00000038476
Gene: ENSMUSG00000041935

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: ENSMUST00000180518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228421

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 82.6%
3x: 76.6%
10x: 60.3%
20x: 42.3%

Validation Efficiency

92% (100/109)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	C	T	5: 137,652,064 (GRCm39)	V432M	probably benign	Het
Akap11	A	T	14: 78,755,617 (GRCm39)	I74K	probably benign	Het
Atf2	T	C	2: 73,676,628 (GRCm39)	D122G	possibly damaging	Het
Brd10	A	T	19: 29,693,597 (GRCm39)	D2032E	probably damaging	Het
Ccser1	C	A	6: 61,290,788 (GRCm39)	T490K	possibly damaging	Het
Cip2a	A	T	16: 48,821,975 (GRCm39)	H201L	probably damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Cnga4	G	T	7: 105,054,884 (GRCm39)	R53L	probably damaging	Het
Col6a3	T	A	1: 90,739,272 (GRCm39)	I319F	probably damaging	Het
Cst11	T	A	2: 148,613,253 (GRCm39)	Y24F	probably damaging	Het
Cstb	T	A	10: 78,263,170 (GRCm39)	V65E	probably benign	Het
Cyp2j11	G	A	4: 96,195,641 (GRCm39)	H352Y	probably benign	Het
Ezr	G	T	17: 7,010,126 (GRCm39)	Q308K	probably damaging	Het
F3	A	T	3: 121,525,265 (GRCm39)	N169Y	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcho1	C	T	8: 72,169,514 (GRCm39)	G131R	probably benign	Het
Fhl5	A	T	4: 25,200,054 (GRCm39)	V260E	probably benign	Het
Kcna10	A	T	3: 107,102,736 (GRCm39)	I456F	probably damaging	Het
Loxl2	T	C	14: 69,898,242 (GRCm39)	V232A	probably damaging	Het
Megf10	G	T	18: 57,420,965 (GRCm39)	V868F	possibly damaging	Het
Megf9	A	G	4: 70,406,386 (GRCm39)	V260A	probably benign	Het
Nampt	A	T	12: 32,891,012 (GRCm39)	S278C	probably damaging	Het
Nap1l1	A	C	10: 111,326,884 (GRCm39)	E148D	probably benign	Het
Pamr1	C	T	2: 102,472,423 (GRCm39)	T574I	probably benign	Het
Pde4d	T	A	13: 110,091,104 (GRCm39)	C35S	possibly damaging	Het
Pkd1l1	A	G	11: 8,825,765 (GRCm39)		probably benign	Het
Pkd2	A	G	5: 104,651,382 (GRCm39)	E910G	probably damaging	Het
Pkhd1l1	A	G	15: 44,420,268 (GRCm39)	Y3002C	probably damaging	Het
Ppp6r2	T	A	15: 89,143,342 (GRCm39)	M163K	probably damaging	Het
Prdm4	T	C	10: 85,743,487 (GRCm39)	N256S	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Scube2	A	G	7: 109,430,095 (GRCm39)		probably benign	Het
Slco1a8	A	T	6: 141,918,076 (GRCm39)	V600E	possibly damaging	Het
Sptbn5	T	A	2: 119,896,112 (GRCm39)	I779F	probably damaging	Het
Tamalin	T	C	15: 101,128,433 (GRCm39)	V157A	probably damaging	Het
Uspl1	A	G	5: 149,146,589 (GRCm39)	T447A	probably damaging	Het
Zfp282	T	G	6: 47,856,943 (GRCm39)	W59G	probably damaging	Het
Zfp629	C	G	7: 127,210,341 (GRCm39)	E489D	probably benign	Het
Zfp746	C	A	6: 48,041,641 (GRCm39)	A362S	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
IGL03188:Rimoc1	APN	15	4,018,187 (GRCm39)	missense	probably damaging	0.99
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

2012-11-27