Mutagenetix > Incidental Mutation

Incidental Mutation 'R0147:Rmc1'

22643

Institutional Source

Beutler Lab

Gene Symbol

Rmc1

Ensembl Gene

ENSMUSG00000024410

Gene Name

regulator of MON1-CCZ1

Synonyms

3110002H16Rik

MMRRC Submission

038431-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R0147 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

12301774-12323715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12322328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 594 (R594C)

Ref Sequence

ENSEMBL: ENSMUSP00000025276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025276] [ENSMUST00000025279] [ENSMUST00000134046] [ENSMUST00000138866]

AlphaFold

Q8VC42

Predicted Effect

probably damaging
Transcript: ENSMUST00000025276
AA Change: R594C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025276
Gene: ENSMUSG00000024410
AA Change: R594C

Domain	Start	End	E-Value	Type
SCOP:d1crza1	21	169	5e-4	SMART
low complexity region	268	281	N/A	INTRINSIC
Pfam:Mic1	475	632	4.4e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025279

SMART Domains

Protein: ENSMUSP00000025279
Gene: ENSMUSG00000024413

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
Pfam:NPC1_N	22	267	1.6e-79	PFAM
transmembrane domain	269	291	N/A	INTRINSIC
transmembrane domain	353	375	N/A	INTRINSIC
Pfam:Patched	436	896	3.5e-52	PFAM
Pfam:MMPL	648	794	6.3e-8	PFAM
Pfam:Sterol-sensing	649	803	2.7e-56	PFAM
Pfam:Patched	1023	1252	2.9e-33	PFAM
low complexity region	1259	1273	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127123

Predicted Effect

probably benign
Transcript: ENSMUST00000134046

SMART Domains

Protein: ENSMUSP00000118783
Gene: ENSMUSG00000024410

Domain	Start	End	E-Value	Type
low complexity region	58	71	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134756

Predicted Effect

probably benign
Transcript: ENSMUST00000138866

SMART Domains

Protein: ENSMUSP00000121414
Gene: ENSMUSG00000024410

Domain	Start	End	E-Value	Type
low complexity region	37	50	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153352

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.5%
20x: 86.1%

Validation Efficiency

67% (88/131)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,639,405 (GRCm39)		probably null	Het
Abtb2	A	G	2: 103,397,480 (GRCm39)	I137V	probably benign	Het
Ank1	T	A	8: 23,613,993 (GRCm39)	N1545K	probably damaging	Het
Arl6	T	C	16: 59,439,153 (GRCm39)		probably benign	Het
Avl9	T	A	6: 56,713,487 (GRCm39)	D248E	probably benign	Het
Becn1	T	C	11: 101,192,562 (GRCm39)	E40G	probably damaging	Het
Bod1l	G	T	5: 41,976,040 (GRCm39)	A1758E	possibly damaging	Het
Btbd16	C	T	7: 130,381,324 (GRCm39)	T19I	probably damaging	Het
Casc3	T	A	11: 98,713,325 (GRCm39)	N246K	possibly damaging	Het
Celf1	G	T	2: 90,835,035 (GRCm39)		probably benign	Het
Chrm3	G	T	13: 9,928,780 (GRCm39)	N85K	probably damaging	Het
Cluh	T	A	11: 74,556,764 (GRCm39)	Y935N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,802,993 (GRCm39)	D1324G	unknown	Het
Ctcfl	T	C	2: 172,960,340 (GRCm39)	D81G	possibly damaging	Het
D630003M21Rik	C	T	2: 158,044,987 (GRCm39)		probably benign	Het
Ddx39a	C	T	8: 84,449,105 (GRCm39)	R298C	possibly damaging	Het
Dnmt3b	T	G	2: 153,503,377 (GRCm39)	N9K	possibly damaging	Het
Dock8	T	C	19: 25,096,823 (GRCm39)	L577P	probably benign	Het
Drc1	A	T	5: 30,486,487 (GRCm39)	N13I	possibly damaging	Het
Eml4	T	A	17: 83,729,081 (GRCm39)	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,931,853 (GRCm39)	T581A	probably damaging	Het
Epha3	T	C	16: 63,433,307 (GRCm39)	D446G	possibly damaging	Het
Fam209	G	T	2: 172,315,900 (GRCm39)	G92C	probably damaging	Het
Fam98c	T	A	7: 28,852,146 (GRCm39)	R340*	probably null	Het
Fbxw10	T	G	11: 62,738,307 (GRCm39)		probably null	Het
Galr1	A	G	18: 82,423,695 (GRCm39)	L194P	probably benign	Het
Gar1	T	C	3: 129,623,122 (GRCm39)	H89R	probably damaging	Het
Gbp4	T	A	5: 105,267,362 (GRCm39)	Y519F	probably benign	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Grid2	T	C	6: 64,510,571 (GRCm39)	Y734H	probably benign	Het
Grm6	T	A	11: 50,750,144 (GRCm39)	I466N	possibly damaging	Het
Hectd3	T	C	4: 116,854,237 (GRCm39)		probably benign	Het
Hpse2	A	C	19: 42,920,099 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,302 (GRCm39)	I148T	probably damaging	Het
Htr1d	C	A	4: 136,170,788 (GRCm39)	T339K	probably damaging	Het
Ip6k1	T	A	9: 107,923,093 (GRCm39)	D408E	probably damaging	Het
Irs2	A	T	8: 11,057,568 (GRCm39)	M288K	probably damaging	Het
Kansl3	A	T	1: 36,392,897 (GRCm39)	C225S	probably damaging	Het
Knop1	C	A	7: 118,445,061 (GRCm39)	R301L	probably benign	Het
Lama5	T	C	2: 179,832,199 (GRCm39)	H1714R	probably benign	Het
Mettl14	G	A	3: 123,165,043 (GRCm39)	T316I	probably damaging	Het
Mmp15	A	T	8: 96,098,945 (GRCm39)	N591Y	probably benign	Het
Mprip	T	A	11: 59,627,899 (GRCm39)	D93E	possibly damaging	Het
Mtmr14	T	A	6: 113,237,627 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,364,776 (GRCm39)	S1917P	probably benign	Het
Muc6	C	T	7: 141,238,255 (GRCm39)	C75Y	probably damaging	Het
Naip1	A	T	13: 100,563,418 (GRCm39)	H582Q	possibly damaging	Het
Nbeal2	G	A	9: 110,471,211 (GRCm39)	R264*	probably null	Het
Neb	T	C	2: 52,139,388 (GRCm39)	K140E	probably damaging	Het
Nfya	A	G	17: 48,706,026 (GRCm39)	V48A	possibly damaging	Het
Ngf	G	T	3: 102,417,119 (GRCm39)		probably benign	Het
Nsmce2	T	G	15: 59,250,806 (GRCm39)	S26A	probably damaging	Het
Or52s19	T	C	7: 103,007,613 (GRCm39)	T263A	possibly damaging	Het
Or5m13b	T	A	2: 85,754,362 (GRCm39)	I250N	possibly damaging	Het
Or7e177	T	G	9: 20,212,387 (GRCm39)	M297R	probably damaging	Het
Pax1	A	G	2: 147,215,654 (GRCm39)	S424G	probably benign	Het
Pcdhb19	A	T	18: 37,630,235 (GRCm39)	Q10L	probably benign	Het
Pdcl	T	C	2: 37,242,142 (GRCm39)	I203V	probably benign	Het
Pknox1	T	A	17: 31,823,764 (GRCm39)	N379K	probably benign	Het
Plxna1	C	T	6: 89,297,692 (GRCm39)	A1831T	possibly damaging	Het
Prodh	T	G	16: 17,895,677 (GRCm39)	Q360P	probably damaging	Het
Pygo2	T	C	3: 89,340,610 (GRCm39)	V299A	probably damaging	Het
Raf1	C	T	6: 115,609,934 (GRCm39)	G202S	probably benign	Het
Rgs11	T	A	17: 26,426,433 (GRCm39)		probably null	Het
Rnf13	A	G	3: 57,709,889 (GRCm39)	D144G	probably damaging	Het
Rtel1	T	C	2: 180,962,839 (GRCm39)	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,279,898 (GRCm39)	I427K	probably damaging	Het
Sec23ip	C	T	7: 128,380,775 (GRCm39)		probably benign	Het
Slc25a26	T	A	6: 94,569,507 (GRCm39)		probably null	Het
Slc6a7	A	G	18: 61,135,183 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,562 (GRCm39)		noncoding transcript	Het
Spata17	A	G	1: 186,844,798 (GRCm39)	V111A	probably damaging	Het
Spata22	T	A	11: 73,221,979 (GRCm39)	M1K	probably null	Het
Svep1	C	T	4: 58,116,608 (GRCm39)	D881N	possibly damaging	Het
Sypl2	T	A	3: 108,126,411 (GRCm39)	N67I	possibly damaging	Het
Tasor	A	G	14: 27,193,725 (GRCm39)	D975G	probably benign	Het
Tenm3	T	C	8: 48,689,755 (GRCm39)	Y1944C	probably damaging	Het
Tm9sf4	G	T	2: 153,037,233 (GRCm39)	V365L	probably benign	Het
Tmc3	T	C	7: 83,256,950 (GRCm39)	V401A	probably damaging	Het
Trpm2	C	T	10: 77,761,659 (GRCm39)	G997D	probably damaging	Het
Unc5b	A	T	10: 60,608,076 (GRCm39)	S675T	probably damaging	Het
Vmn1r217	A	G	13: 23,298,107 (GRCm39)	M265T	probably benign	Het
Vps54	T	A	11: 21,250,259 (GRCm39)	D548E	probably benign	Het
Wdfy3	A	G	5: 102,065,277 (GRCm39)	V1297A	probably benign	Het
Wdr46	T	A	17: 34,159,997 (GRCm39)	F70I	probably benign	Het
Zdbf2	C	T	1: 63,343,165 (GRCm39)	Q515*	probably null	Het
Zfp710	T	A	7: 79,731,721 (GRCm39)	C299*	probably null	Het

Other mutations in Rmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Rmc1	APN	18	12,312,276 (GRCm39)	missense	probably benign	0.00
IGL01883:Rmc1	APN	18	12,311,296 (GRCm39)	missense	probably benign	0.03
IGL01956:Rmc1	APN	18	12,322,407 (GRCm39)	missense	probably damaging	0.99
IGL02828:Rmc1	APN	18	12,322,278 (GRCm39)	missense	possibly damaging	0.52
IGL03147:Rmc1	APN	18	12,302,286 (GRCm39)	splice site	probably benign
R0357:Rmc1	UTSW	18	12,312,266 (GRCm39)	missense	possibly damaging	0.87
R1108:Rmc1	UTSW	18	12,314,680 (GRCm39)	missense	probably damaging	0.99
R1422:Rmc1	UTSW	18	12,314,680 (GRCm39)	missense	probably damaging	0.99
R1939:Rmc1	UTSW	18	12,313,562 (GRCm39)	missense	probably damaging	1.00
R4300:Rmc1	UTSW	18	12,321,919 (GRCm39)	missense	probably benign	0.00
R4826:Rmc1	UTSW	18	12,318,836 (GRCm39)	intron	probably benign
R5103:Rmc1	UTSW	18	12,322,319 (GRCm39)	missense	probably benign
R5345:Rmc1	UTSW	18	12,312,234 (GRCm39)	missense	probably benign
R5506:Rmc1	UTSW	18	12,322,013 (GRCm39)	unclassified	probably benign
R5566:Rmc1	UTSW	18	12,313,749 (GRCm39)	missense	possibly damaging	0.90
R5574:Rmc1	UTSW	18	12,318,063 (GRCm39)	frame shift	probably null
R5632:Rmc1	UTSW	18	12,304,640 (GRCm39)	missense	possibly damaging	0.63
R6331:Rmc1	UTSW	18	12,313,571 (GRCm39)	missense	probably damaging	0.99
R6765:Rmc1	UTSW	18	12,309,203 (GRCm39)	missense	possibly damaging	0.82
R6978:Rmc1	UTSW	18	12,318,804 (GRCm39)	missense	probably benign
R7310:Rmc1	UTSW	18	12,317,972 (GRCm39)	missense	probably benign	0.13
R7734:Rmc1	UTSW	18	12,322,320 (GRCm39)	missense	possibly damaging	0.81
R7792:Rmc1	UTSW	18	12,314,656 (GRCm39)	missense	probably damaging	1.00
R7830:Rmc1	UTSW	18	12,301,928 (GRCm39)	missense	probably benign	0.16
R7885:Rmc1	UTSW	18	12,322,371 (GRCm39)	missense	probably damaging	1.00
R8047:Rmc1	UTSW	18	12,313,586 (GRCm39)	missense	possibly damaging	0.67
R8144:Rmc1	UTSW	18	12,318,704 (GRCm39)	critical splice acceptor site	probably null
R8157:Rmc1	UTSW	18	12,321,690 (GRCm39)	missense	possibly damaging	0.95
R8870:Rmc1	UTSW	18	12,321,618 (GRCm39)	missense	probably benign
R9457:Rmc1	UTSW	18	12,312,303 (GRCm39)	missense	probably benign	0.02
X0062:Rmc1	UTSW	18	12,312,576 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAAGGTAACTGCCCTGCCAC -3'
(R):5'- GCCCAAGCCATTTCAAATGCTTCTC -3'

Sequencing Primer
(F):5'- CCACGGCTTCAGGTATCC -3'
(R):5'- GTCAGATATAAGCTATGCCCTTCAG -3'

Posted On

2013-04-16