Mutagenetix > Incidental Mutation

Incidental Mutation 'R8027:Rimoc1'

617786

Institutional Source

Beutler Lab

Gene Symbol

Rimoc1

Ensembl Gene

ENSMUSG00000041935

Gene Name

RAB7A interacting MON1-CCZ1 complex subunit 1

Synonyms

AW549877

MMRRC Submission

067466-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4011517-4025226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4015694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 290 (Q290R)

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
AA Change: Q290R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000038476
Gene: ENSMUSG00000041935
AA Change: Q290R

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

Coding Region Coverage

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

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	C	T	3: 40,888,158 (GRCm39)	T334I	probably benign	Het
Adam5	T	C	8: 25,272,574 (GRCm39)	N527S	probably damaging	Het
Aldh5a1	A	T	13: 25,110,093 (GRCm39)	Y147*	probably null	Het
Astn2	A	C	4: 65,459,208 (GRCm39)	V1121G	possibly damaging	Het
Atr	T	A	9: 95,747,809 (GRCm39)	Y364N	probably damaging	Het
Bmpr2	T	A	1: 59,906,962 (GRCm39)	L685H	probably damaging	Het
C2cd5	A	G	6: 143,024,046 (GRCm39)	L248P	possibly damaging	Het
Calcoco2	A	T	11: 95,991,241 (GRCm39)		probably benign	Het
Cog1	T	C	11: 113,543,215 (GRCm39)	L241P	probably damaging	Het
Fam107a	A	T	14: 8,298,813 (GRCm38)		probably benign	Het
Fam161a	A	T	11: 22,970,125 (GRCm39)	K101M	probably damaging	Het
Fancd2	C	T	6: 113,523,583 (GRCm39)	T240I	probably damaging	Het
Fbxl8	C	T	8: 105,994,758 (GRCm39)	T90I	probably benign	Het
Fndc3a	A	G	14: 72,790,983 (GRCm39)	V998A	probably benign	Het
Fut1	G	A	7: 45,268,289 (GRCm39)	G81E	probably damaging	Het
Gapdh	A	G	6: 125,139,331 (GRCm39)	V285A	probably benign	Het
Gm5591	T	C	7: 38,221,722 (GRCm39)	T116A	probably damaging	Het
Grhl2	A	G	15: 37,279,727 (GRCm39)	E145G	probably benign	Het
Grik1	T	G	16: 87,732,893 (GRCm39)	T660P		Het
Gzmk	T	A	13: 113,308,434 (GRCm39)	K256*	probably null	Het
Hsp90b1	A	G	10: 86,532,594 (GRCm39)	S361P	probably damaging	Het
Inpp5f	T	C	7: 128,292,397 (GRCm39)	S645P	probably damaging	Het
Izumo1	T	C	7: 45,275,678 (GRCm39)	V329A	probably benign	Het
Leng8	CT	C	7: 4,145,855 (GRCm39)		probably null	Het
Lrba	T	A	3: 86,325,219 (GRCm39)	D1892E	probably benign	Het
Lztr1	T	C	16: 17,329,976 (GRCm39)	S101P	probably damaging	Het
Mark4	T	C	7: 19,181,164 (GRCm39)	D145G	possibly damaging	Het
Nudt9	T	A	5: 104,212,793 (GRCm39)		probably benign	Het
Or55b10	T	A	7: 102,143,629 (GRCm39)	I118F	probably damaging	Het
Pcdhb9	T	C	18: 37,536,069 (GRCm39)	S688P	possibly damaging	Het
Prpf40a	A	G	2: 53,081,150 (GRCm39)	M17T	probably benign	Het
Psg29	G	A	7: 16,942,565 (GRCm39)	V189M	possibly damaging	Het
Ptprm	T	C	17: 67,251,200 (GRCm39)	Y559C	probably damaging	Het
Scn10a	T	C	9: 119,462,856 (GRCm39)	Y1060C	probably damaging	Het
Sh3pxd2b	C	T	11: 32,372,210 (GRCm39)	T459M	probably benign	Het
Skint4	G	T	4: 112,015,182 (GRCm39)		probably null	Het
Skint8	T	A	4: 111,785,936 (GRCm39)	D127E	probably benign	Het
Slc13a2	T	A	11: 78,295,582 (GRCm39)	M95L	probably benign	Het
Slc5a2	A	G	7: 127,869,718 (GRCm39)	M384V	probably damaging	Het
Timd5	T	C	11: 46,428,744 (GRCm39)	I222T	probably benign	Het
Tmem198	A	T	1: 75,456,706 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,727,060 (GRCm39)	I5835T	unknown	Het
Tulp3	T	C	6: 128,311,436 (GRCm39)	D73G	probably benign	Het
Ube2e2	A	C	14: 18,574,317 (GRCm38)	W195G	possibly damaging	Het
Utp25	A	G	1: 192,800,530 (GRCm39)	V430A	probably benign	Het
Wwp2	C	A	8: 108,282,109 (GRCm39)	H768N	probably damaging	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
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
R9293:Rimoc1	UTSW	15	4,021,336 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACTCAGGGAAAGGTGAC -3'
(R):5'- TACAGTGGAGAGATGTGCTACTG -3'

Sequencing Primer
(F):5'- CAGCATTAGAGAAGCGTAGTGC -3'
(R):5'- CTACTGGGGGTTAAAGCACTGC -3'

Posted On

2020-01-23