Mutagenetix > Incidental Mutation

Incidental Mutation 'R3923:Cnnm1'

307068

Institutional Source

Beutler Lab

Gene Symbol

Cnnm1

Ensembl Gene

ENSMUSG00000025189

Gene Name

cyclin M1

Synonyms

Acdp1

MMRRC Submission

040820-MU

Accession Numbers

Essential gene?

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

Stock #

R3923 (G1)

Quality Score

99.1

Status

Not validated

Chromosome

Chromosomal Location

43428875-43485649 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 43428884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000153472 (fasta)

Gene Model

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

AlphaFold

Q0GA42

Predicted Effect

probably null
Transcript: ENSMUST00000165311
AA Change: M1V

SMART Domains

Protein: ENSMUSP00000131830
Gene: ENSMUSG00000025189
AA Change: M1V

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 null
Transcript: ENSMUST00000223787
AA Change: M1V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225283

Meta Mutation Damage Score

0.8405

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,180,514 (GRCm39)	M528V	possibly damaging	Het
Ano3	T	A	2: 110,601,304 (GRCm39)	Y318F	probably damaging	Het
Asic4	T	A	1: 75,427,871 (GRCm39)	D132E	probably damaging	Het
Atp2b2	A	G	6: 113,774,069 (GRCm39)		probably null	Het
Cast	T	C	13: 74,876,532 (GRCm39)	E447G	probably damaging	Het
Ccdc110	T	C	8: 46,395,426 (GRCm39)	I439T	probably damaging	Het
Ccdc50	A	T	16: 27,263,294 (GRCm39)	R264S	probably damaging	Het
Cdhr18	T	A	14: 13,865,990 (GRCm38)	K300*	probably null	Het
Chd9	T	A	8: 91,660,147 (GRCm39)	V369E	probably benign	Het
Col4a1	T	A	8: 11,251,665 (GRCm39)		probably benign	Het
Crtac1	A	G	19: 42,322,386 (GRCm39)	V118A	probably damaging	Het
Ddx59	T	A	1: 136,344,482 (GRCm39)	V51D	probably benign	Het
Dipk1c	A	T	18: 84,748,812 (GRCm39)	T137S	probably damaging	Het
Dtd2	G	C	12: 52,051,734 (GRCm39)		probably null	Het
Ehmt1	A	T	2: 24,774,347 (GRCm39)		probably null	Het
Emc1	T	A	4: 139,090,496 (GRCm39)	L412*	probably null	Het
Ep400	T	C	5: 110,904,389 (GRCm39)	N70S	possibly damaging	Het
Ercc6l2	T	C	13: 64,018,549 (GRCm39)		probably benign	Het
Fry	T	C	5: 150,336,814 (GRCm39)	V1395A	probably benign	Het
Gps1	A	G	11: 120,677,259 (GRCm39)	N186S	possibly damaging	Het
Hdgf	T	A	3: 87,821,535 (GRCm39)	D128E	probably benign	Het
Hipk3	A	G	2: 104,301,107 (GRCm39)	S362P	probably damaging	Het
Hypk	C	A	2: 121,288,683 (GRCm39)	H116Q	possibly damaging	Het
Ifna9	T	A	4: 88,510,508 (GRCm39)	T39S	possibly damaging	Het
Itgae	A	C	11: 73,006,969 (GRCm39)	D405A	probably damaging	Het
Itprid1	T	C	6: 55,945,045 (GRCm39)	S589P	probably benign	Het
Kdm5a	T	C	6: 120,358,625 (GRCm39)	S223P	probably benign	Het
Kif21a	C	T	15: 90,821,497 (GRCm39)	S1432N	possibly damaging	Het
Klhl1	A	T	14: 96,584,316 (GRCm39)	C305S	possibly damaging	Het
Lrrn2	A	G	1: 132,866,230 (GRCm39)	S432G	probably benign	Het
Mlana	T	A	19: 29,682,098 (GRCm39)	S50R	probably damaging	Het
Mycbp2	A	T	14: 103,364,149 (GRCm39)	H4383Q	probably damaging	Het
Ncor1	A	G	11: 62,216,442 (GRCm39)	S1469P	probably damaging	Het
Nol6	G	T	4: 41,121,531 (GRCm39)	F270L	probably benign	Het
Nr2c2	T	A	6: 92,137,382 (GRCm39)	M431K	probably damaging	Het
Nrap	T	C	19: 56,368,688 (GRCm39)	I243V	probably damaging	Het
Obscn	T	C	11: 58,951,754 (GRCm39)	I4297V	possibly damaging	Het
Onecut2	A	G	18: 64,474,591 (GRCm39)	K381E	probably damaging	Het
Or52n1	T	A	7: 104,383,396 (GRCm39)	E58D	probably benign	Het
Or8k23	T	C	2: 86,186,205 (GRCm39)	I174V	probably benign	Het
Palb2	A	T	7: 121,716,583 (GRCm39)		probably null	Het
Plod1	T	C	4: 148,000,280 (GRCm39)	K260E	possibly damaging	Het
Rgsl1	T	C	1: 153,679,876 (GRCm39)		probably null	Het
Rpe65	T	A	3: 159,310,037 (GRCm39)	F103L	probably benign	Het
Ryr3	C	T	2: 112,672,218 (GRCm39)	A1438T	possibly damaging	Het
Slc17a3	G	A	13: 24,042,037 (GRCm39)	V402M	possibly damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Snph	C	T	2: 151,435,431 (GRCm39)	C430Y	probably damaging	Het
Tarbp1	T	C	8: 127,167,510 (GRCm39)	I1101V	probably benign	Het
Tatdn1	G	A	15: 58,793,020 (GRCm39)	L120F	possibly damaging	Het
Trav3-3	A	G	14: 53,903,828 (GRCm39)	K49E	probably benign	Het
Trpv5	T	C	6: 41,630,183 (GRCm39)	T636A	probably benign	Het
Ube2l6	A	G	2: 84,639,418 (GRCm39)	D127G	possibly damaging	Het
Usp33	T	A	3: 152,080,428 (GRCm39)		probably null	Het
Usp53	A	T	3: 122,727,954 (GRCm39)	F876Y	probably benign	Het
Utrn	A	T	10: 12,615,223 (GRCm39)	I316K	probably benign	Het
Zfp106	G	T	2: 120,365,337 (GRCm39)	Q357K	probably damaging	Het
Zfp143	T	C	7: 109,673,398 (GRCm39)	V138A	probably damaging	Het
Zfp451	T	C	1: 33,818,126 (GRCm39)	R118G	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
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
R7445:Cnnm1	UTSW	19	43,429,260 (GRCm39)	missense	possibly damaging	0.95
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'- TAAGTGTATCCAGGCTAGGCAC -3'
(R):5'- AGGAGGAAGCTGGTGCCTTC -3'

Sequencing Primer
(F):5'- TATCCAGGCTAGGCACTGTGAC -3'
(R):5'- GTCGCAGACCCAGTAAC -3'

Posted On

2015-04-17