Mutagenetix > Incidental Mutation

Incidental Mutation 'R1070:Rimoc1'

86181

Institutional Source

Beutler Lab

Gene Symbol

Rimoc1

Ensembl Gene

ENSMUSG00000041935

Gene Name

RAB7A interacting MON1-CCZ1 complex subunit 1

Synonyms

AW549877

MMRRC Submission

039156-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1070 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4011517-4025226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4015848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 239 (V239F)

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: V239F

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038476
Gene: ENSMUSG00000041935
AA Change: V239F

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: ENSMUST00000228421

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,263 (GRCm39)	D1367G	probably damaging	Het
Actr3b	A	G	5: 26,053,491 (GRCm39)		probably benign	Het
Agtr1b	A	T	3: 20,369,912 (GRCm39)	N231K	probably benign	Het
Bach1	T	C	16: 87,517,009 (GRCm39)	S517P	probably benign	Het
Blzf1	A	G	1: 164,131,499 (GRCm39)		probably benign	Het
Bptf	G	T	11: 106,945,881 (GRCm39)	Q2453K	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Heatr4	T	C	12: 84,024,841 (GRCm39)	T327A	possibly damaging	Het
Hes1	T	C	16: 29,886,101 (GRCm39)	I235T	probably damaging	Het
Hmcn1	T	A	1: 150,565,341 (GRCm39)	D2262V	probably damaging	Het
Ifi208	C	T	1: 173,510,610 (GRCm39)	A255V	probably damaging	Het
Inhbe	T	C	10: 127,187,382 (GRCm39)	I11M	probably benign	Het
Ipo9	T	C	1: 135,334,281 (GRCm39)	E315G	possibly damaging	Het
Itih1	G	T	14: 30,664,413 (GRCm39)		probably benign	Het
Kcnk2	A	G	1: 188,988,960 (GRCm39)		probably benign	Het
Kdm4c	T	A	4: 74,291,865 (GRCm39)	Y827*	probably null	Het
Kif5a	T	C	10: 127,081,275 (GRCm39)	T220A	probably benign	Het
Krt78	A	G	15: 101,854,728 (GRCm39)	Y1028H	possibly damaging	Het
Ldc1	T	C	4: 130,112,949 (GRCm39)	E149G	probably benign	Het
Mylk4	T	C	13: 32,908,801 (GRCm39)	D333G	probably benign	Het
Net1	A	T	13: 3,962,930 (GRCm39)	S45T	probably benign	Het
Npat	T	A	9: 53,483,892 (GRCm39)	F1403I	probably damaging	Het
Or5h25	A	G	16: 58,930,182 (GRCm39)	S264P	probably benign	Het
Or5p57	T	C	7: 107,665,858 (GRCm39)	D49G	probably benign	Het
Or7a35	C	T	10: 78,853,684 (GRCm39)	P176L	probably damaging	Het
Pcif1	T	C	2: 164,731,058 (GRCm39)	Y404H	probably benign	Het
Pdzd2	A	G	15: 12,390,052 (GRCm39)		probably null	Het
Rab3a	A	G	8: 71,209,840 (GRCm39)	N40S	probably damaging	Het
Raf1	T	C	6: 115,614,660 (GRCm39)	N74D	probably benign	Het
Rap1gap2	A	G	11: 74,327,853 (GRCm39)	V139A	possibly damaging	Het
Rdh12	T	C	12: 79,260,522 (GRCm39)	L206P	probably damaging	Het
Sdhb	T	C	4: 140,698,547 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Strip1	T	C	3: 107,534,724 (GRCm39)	E102G	possibly damaging	Het
Sult2a8	T	A	7: 14,147,698 (GRCm39)	I198F	probably damaging	Het
Tars3	T	C	7: 65,305,444 (GRCm39)	S223P	probably damaging	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vcam1	C	T	3: 115,904,552 (GRCm39)	V732M	possibly damaging	Het
Vmn2r79	T	C	7: 86,652,681 (GRCm39)	Y458H	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
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

Predicted Primers

PCR Primer
(F):5'- ACATTGGGTTCCTCCTTACCAGTGG -3'
(R):5'- GTGGCCTTCTCCAAGCTAGTAAGTG -3'

Sequencing Primer
(F):5'- GTGTAACCGTCTCAAGATCAGTG -3'
(R):5'- CCTTCTCCAAGCTAGTAAGTGGTATG -3'

Posted On

2013-11-18