Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Cnnm1'

577264

Institutional Source

Beutler Lab

Gene Symbol

Cnnm1

Ensembl Gene

ENSMUSG00000025189

Gene Name

cyclin M1

Synonyms

Acdp1

MMRRC Submission

045521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7445 (G1)

Quality Score

106.008

Status

Validated

Chromosome

Chromosomal Location

43428875-43485649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43429260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 126 (R126H)

Ref Sequence

ENSEMBL: ENSMUSP00000131830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165311] [ENSMUST00000223787]

AlphaFold

Q0GA42

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165311
AA Change: R126H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131830
Gene: ENSMUSG00000025189
AA Change: R126H

Domain	Start	End	E-Value	Type
low complexity region	25	32	N/A	INTRINSIC
low complexity region	78	95	N/A	INTRINSIC
low complexity region	112	120	N/A	INTRINSIC
low complexity region	165	183	N/A	INTRINSIC
low complexity region	193	202	N/A	INTRINSIC
Pfam:DUF21	224	414	1.8e-27	PFAM
Blast:CBS	438	489	2e-12	BLAST
CBS	505	561	5.02e0	SMART
Blast:cNMP	634	802	2e-44	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000223787
AA Change: R126H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,962 (GRCm39)	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,793,553 (GRCm39)	C29S	probably damaging	Het
Acsbg3	G	A	17: 57,189,973 (GRCm39)	R333Q	possibly damaging	Het
Ank3	A	G	10: 69,827,954 (GRCm39)	T2208A		Het
Ap4s1	T	C	12: 51,785,424 (GRCm39)	L132P	probably damaging	Het
Ascl4	C	T	10: 85,764,364 (GRCm39)	R4C	probably benign	Het
Brd7	A	T	8: 89,088,336 (GRCm39)	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 28,780,575 (GRCm39)	S648P	possibly damaging	Het
Camta1	C	T	4: 151,228,748 (GRCm39)	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,516,400 (GRCm39)	F53L	probably benign	Het
Chaf1a	A	G	17: 56,369,170 (GRCm39)	D467G	possibly damaging	Het
Cog5	T	G	12: 31,969,671 (GRCm39)	S730R	possibly damaging	Het
Col11a1	A	T	3: 113,987,578 (GRCm39)	E1374D	unknown	Het
Csmd1	A	G	8: 16,208,268 (GRCm39)	I1229T	possibly damaging	Het
Degs1l	A	G	1: 180,882,577 (GRCm39)	N113S	possibly damaging	Het
Dnajc30	T	C	5: 135,093,232 (GRCm39)	L43P	probably damaging	Het
Eif3f	C	T	7: 108,533,865 (GRCm39)	T76M	unknown	Het
Ermap	G	A	4: 119,045,907 (GRCm39)	T42I	unknown	Het
Gpd1l	C	T	9: 114,749,742 (GRCm39)	G25S	probably damaging	Het
Heatr1	G	T	13: 12,445,919 (GRCm39)	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,744,286 (GRCm39)	D29G		Het
Ipo8	T	C	6: 148,691,315 (GRCm39)	D685G	probably benign	Het
Klra10	T	C	6: 130,252,819 (GRCm39)	T152A	probably benign	Het
Lmntd1	T	A	6: 145,375,693 (GRCm39)	S82C	probably damaging	Het
Maip1	T	C	1: 57,446,190 (GRCm39)	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,025,256 (GRCm39)	S3P	unknown	Het
Mei4	A	G	9: 81,772,292 (GRCm39)	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,280,336 (GRCm39)	K741Q	probably benign	Het
Mtcl3	T	C	10: 29,072,999 (GRCm39)	S764P	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncapg2	A	G	12: 116,382,888 (GRCm39)	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914 (GRCm39)	M145K	probably damaging	Het
Nmur2	A	G	11: 55,923,766 (GRCm39)	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,994,576 (GRCm39)	E164G	probably benign	Het
Or2ag1	A	G	7: 106,472,549 (GRCm39)	L301S	possibly damaging	Het
Or4c58	T	A	2: 89,674,616 (GRCm39)	T234S	probably damaging	Het
Or6c5b	A	T	10: 129,245,754 (GRCm39)	D173V	probably benign	Het
P3h2	T	A	16: 25,803,815 (GRCm39)	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,190,644 (GRCm39)	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,368,661 (GRCm39)	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,283,801 (GRCm39)	D131G	probably benign	Het
Ppl	T	C	16: 4,906,932 (GRCm39)	D1121G	probably damaging	Het
Prkra	T	C	2: 76,463,942 (GRCm39)	D240G	probably benign	Het
Ptgs1	C	A	2: 36,135,222 (GRCm39)	N395K	probably benign	Het
Ptprq	A	T	10: 107,426,820 (GRCm39)	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,304,227 (GRCm39)	H326L	probably benign	Het
Rapgef5	A	G	12: 117,719,704 (GRCm39)	D778G	probably benign	Het
Rbm46	T	A	3: 82,771,517 (GRCm39)	E366V	probably damaging	Het
Rnd1	G	T	15: 98,568,550 (GRCm39)	H209Q	probably benign	Het
Rnf122	A	T	8: 31,608,528 (GRCm39)	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,105,881 (GRCm39)	P446S	probably benign	Het
Slco1a5	C	A	6: 142,204,734 (GRCm39)	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,597,543 (GRCm39)	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,445,526 (GRCm39)	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,062,757 (GRCm39)	H81Q	probably damaging	Het
Stk16	T	C	1: 75,190,296 (GRCm39)	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122 (GRCm39)	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,502,471 (GRCm39)	A463T	probably benign	Het
Tmem117	T	C	15: 94,612,799 (GRCm39)	F112L	probably benign	Het
Tmem72	A	G	6: 116,675,291 (GRCm39)	I67T	probably benign	Het
Tnik	A	G	3: 28,718,058 (GRCm39)		probably null	Het
Trav14-2	A	G	14: 53,878,515 (GRCm39)	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,598,276 (GRCm39)	D677V	probably damaging	Het
Vgll4	C	T	6: 114,839,157 (GRCm39)	S278N	unknown	Het
Wdfy4	C	T	14: 32,792,575 (GRCm39)	W2157*	probably null	Het

Other mutations in Cnnm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Cnnm1	APN	19	43,460,375 (GRCm39)	missense	probably benign	0.10
IGL02370:Cnnm1	APN	19	43,460,389 (GRCm39)	critical splice donor site	probably null
R0329:Cnnm1	UTSW	19	43,430,349 (GRCm39)	missense	probably damaging	1.00
R0400:Cnnm1	UTSW	19	43,456,803 (GRCm39)	missense	probably damaging	1.00
R1417:Cnnm1	UTSW	19	43,458,162 (GRCm39)	missense	probably benign	0.05
R1478:Cnnm1	UTSW	19	43,460,295 (GRCm39)	missense	probably damaging	1.00
R1743:Cnnm1	UTSW	19	43,460,352 (GRCm39)	missense	possibly damaging	0.93
R2290:Cnnm1	UTSW	19	43,479,941 (GRCm39)	missense	probably benign
R2509:Cnnm1	UTSW	19	43,430,325 (GRCm39)	missense	probably damaging	1.00
R2910:Cnnm1	UTSW	19	43,458,086 (GRCm39)	missense	possibly damaging	0.58
R3107:Cnnm1	UTSW	19	43,430,000 (GRCm39)	missense	probably damaging	0.97
R3109:Cnnm1	UTSW	19	43,430,000 (GRCm39)	missense	probably damaging	0.97
R3922:Cnnm1	UTSW	19	43,428,884 (GRCm39)	start codon destroyed	probably null
R3923:Cnnm1	UTSW	19	43,428,884 (GRCm39)	start codon destroyed	probably null
R4804:Cnnm1	UTSW	19	43,480,014 (GRCm39)	missense	probably benign	0.02
R5199:Cnnm1	UTSW	19	43,483,425 (GRCm39)	missense	possibly damaging	0.84
R5347:Cnnm1	UTSW	19	43,430,301 (GRCm39)	missense	probably benign	0.42
R5595:Cnnm1	UTSW	19	43,453,596 (GRCm39)	missense	possibly damaging	0.85
R5964:Cnnm1	UTSW	19	43,458,162 (GRCm39)	missense	probably benign	0.42
R5969:Cnnm1	UTSW	19	43,479,911 (GRCm39)	missense	probably damaging	1.00
R6383:Cnnm1	UTSW	19	43,453,705 (GRCm39)	critical splice donor site	probably null
R7072:Cnnm1	UTSW	19	43,429,296 (GRCm39)	missense	probably benign
R7092:Cnnm1	UTSW	19	43,430,387 (GRCm39)	missense	probably damaging	1.00
R7126:Cnnm1	UTSW	19	43,473,292 (GRCm39)	missense	probably damaging	1.00
R7432:Cnnm1	UTSW	19	43,456,710 (GRCm39)	missense	probably benign	0.09
R8728:Cnnm1	UTSW	19	43,473,365 (GRCm39)	missense	probably benign	0.00
R9108:Cnnm1	UTSW	19	43,464,649 (GRCm39)	missense	possibly damaging	0.77
R9114:Cnnm1	UTSW	19	43,429,395 (GRCm39)	missense	possibly damaging	0.51
R9131:Cnnm1	UTSW	19	43,429,839 (GRCm39)	missense	probably benign
R9232:Cnnm1	UTSW	19	43,480,325 (GRCm39)	missense	probably benign	0.12
R9357:Cnnm1	UTSW	19	43,429,827 (GRCm39)	missense	probably damaging	0.96
R9690:Cnnm1	UTSW	19	43,460,345 (GRCm39)	missense	probably benign	0.07
R9711:Cnnm1	UTSW	19	43,483,469 (GRCm39)	missense	possibly damaging	0.53
R9792:Cnnm1	UTSW	19	43,482,252 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAAGGCACCAGCTTCCTCCT -3'
(R):5'- TTCCGCAGCACCCGTAACT -3'

Sequencing Primer
(F):5'- TGCGGGTCTACTTCCAGC -3'
(R):5'- TAACTCCACCGGGTCCAG -3'

Posted On

2019-10-07