Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01534:Cnnm4'

89885

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnnm4

Ensembl Gene

ENSMUSG00000037408

Gene Name

cyclin M4

Synonyms

Acdp4, 5430430O18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL01534

Quality Score

Status

Chromosome

Chromosomal Location

36510701-36547845 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36538596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 593 (Y593H)

Ref Sequence

ENSEMBL: ENSMUSP00000121317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000153128]

AlphaFold

Q69ZF7

Predicted Effect

probably benign
Transcript: ENSMUST00000153128
AA Change: Y593H

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

SMART Domains

Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408
AA Change: Y593H

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:DUF21	181	355	1.1e-35	PFAM
SCOP:d1jr1a3	373	424	1e-3	SMART
Blast:CBS	379	429	9e-13	BLAST
Pfam:CBS	438	502	6.9e-4	PFAM
Blast:cNMP	572	705	2e-72	BLAST

Coding Region Coverage

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 containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mutants exhibit hypomagnesemia and defective amelogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,197,146 (GRCm39)	L111P	possibly damaging	Het
Adck5	C	A	15: 76,478,926 (GRCm39)	H383Q	probably damaging	Het
Arb2a	T	A	13: 78,147,830 (GRCm39)		probably benign	Het
Asns	T	A	6: 7,675,397 (GRCm39)	H535L	probably benign	Het
Atf5	A	G	7: 44,462,462 (GRCm39)	S221P	probably damaging	Het
Atr	T	C	9: 95,747,599 (GRCm39)	Y294H	probably damaging	Het
B230307C23Rik	A	G	16: 97,809,961 (GRCm39)		probably benign	Het
C1qtnf6	C	T	15: 78,409,416 (GRCm39)	E144K	probably benign	Het
Casp8ap2	C	T	4: 32,648,134 (GRCm39)		probably benign	Het
Cd48	C	A	1: 171,523,307 (GRCm39)	P50Q	possibly damaging	Het
Col27a1	G	A	4: 63,144,019 (GRCm39)	R569Q	probably benign	Het
Cubn	A	T	2: 13,470,744 (GRCm39)	C549*	probably null	Het
Dsg1a	T	A	18: 20,474,053 (GRCm39)	M1042K	probably benign	Het
Dzip1	T	A	14: 119,114,651 (GRCm39)	T835S	probably damaging	Het
Eif3c	T	C	7: 126,156,867 (GRCm39)	T389A	probably benign	Het
Erlin2	G	T	8: 27,521,985 (GRCm39)	E177*	probably null	Het
Gabrb1	T	A	5: 72,026,772 (GRCm39)	S91T	possibly damaging	Het
Grik3	T	C	4: 125,579,983 (GRCm39)	V576A	probably damaging	Het
Gtpbp2	T	A	17: 46,474,430 (GRCm39)	Y70N	probably damaging	Het
Idh3a	T	A	9: 54,508,506 (GRCm39)		probably benign	Het
Ift74	G	A	4: 94,568,181 (GRCm39)	R406H	probably benign	Het
Kcna7	C	A	7: 45,055,935 (GRCm39)	N50K	probably damaging	Het
Kcnd2	T	C	6: 21,726,144 (GRCm39)	S546P	probably benign	Het
Lrp4	G	A	2: 91,303,986 (GRCm39)	D134N	probably damaging	Het
Mcm2	A	G	6: 88,864,700 (GRCm39)		probably null	Het
Nlrp12	T	C	7: 3,288,463 (GRCm39)	Y683C	probably benign	Het
Or14j3	A	T	17: 37,900,963 (GRCm39)	Y94N	possibly damaging	Het
Or2d4	T	A	7: 106,543,546 (GRCm39)	I221F	probably damaging	Het
Or8i2	A	G	2: 86,852,228 (GRCm39)	I220T	probably damaging	Het
Or9i1	A	T	19: 13,839,283 (GRCm39)	N42I	probably damaging	Het
Or9i14	T	A	19: 13,792,666 (GRCm39)	H96L	probably benign	Het
P2rx7	A	C	5: 122,814,761 (GRCm39)	I409L	probably damaging	Het
Pde10a	A	G	17: 9,163,802 (GRCm39)	N191S	probably damaging	Het
Rabggtb	A	G	3: 153,615,896 (GRCm39)		probably null	Het
Rgs4	A	T	1: 169,572,085 (GRCm39)	C71*	probably null	Het
Rnase10	T	C	14: 51,245,436 (GRCm39)	F5L	probably benign	Het
Scn11a	T	A	9: 119,609,888 (GRCm39)	T987S	probably benign	Het
Shox2	A	C	3: 66,885,696 (GRCm39)	D126E	probably benign	Het
Slc12a1	A	G	2: 125,059,830 (GRCm39)	D910G	probably damaging	Het
Slc15a1	C	T	14: 121,702,364 (GRCm39)	C594Y	possibly damaging	Het
Spock2	C	T	10: 59,962,883 (GRCm39)		probably benign	Het
Togaram1	G	T	12: 65,013,321 (GRCm39)	D191Y	probably damaging	Het
Triml2	T	C	8: 43,640,660 (GRCm39)	V172A	probably benign	Het
Tubb3	C	T	8: 124,147,705 (GRCm39)	R213C	probably benign	Het
Vmn2r4	A	T	3: 64,313,844 (GRCm39)	V379E	probably damaging	Het
Zfp446	C	T	7: 12,713,493 (GRCm39)	P153L	probably damaging	Het
Zfp608	A	T	18: 55,032,004 (GRCm39)	N645K	probably damaging	Het

Other mutations in Cnnm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Cnnm4	APN	1	36,537,115 (GRCm39)	missense	possibly damaging	0.95
IGL02201:Cnnm4	APN	1	36,511,831 (GRCm39)	missense	probably damaging	1.00
IGL03090:Cnnm4	APN	1	36,510,952 (GRCm39)	missense	probably benign	0.00
IGL03173:Cnnm4	APN	1	36,512,173 (GRCm39)	splice site	probably benign
R0372:Cnnm4	UTSW	1	36,537,091 (GRCm39)	missense	probably damaging	1.00
R1659:Cnnm4	UTSW	1	36,511,246 (GRCm39)	missense	probably benign	0.00
R2239:Cnnm4	UTSW	1	36,544,759 (GRCm39)	missense	probably benign	0.00
R2986:Cnnm4	UTSW	1	36,511,453 (GRCm39)	missense	possibly damaging	0.92
R4195:Cnnm4	UTSW	1	36,538,589 (GRCm39)	missense	probably benign	0.06
R4890:Cnnm4	UTSW	1	36,511,345 (GRCm39)	missense	probably benign	0.35
R6109:Cnnm4	UTSW	1	36,537,560 (GRCm39)	missense	probably damaging	1.00
R6302:Cnnm4	UTSW	1	36,539,036 (GRCm39)	missense	probably benign
R7773:Cnnm4	UTSW	1	36,538,603 (GRCm39)	missense	probably benign
R7836:Cnnm4	UTSW	1	36,511,019 (GRCm39)	missense	probably benign
R8041:Cnnm4	UTSW	1	36,511,174 (GRCm39)	missense	probably benign	0.01
R8222:Cnnm4	UTSW	1	36,545,617 (GRCm39)	missense	probably benign	0.04
R9098:Cnnm4	UTSW	1	36,511,170 (GRCm39)	missense	probably benign	0.01
R9231:Cnnm4	UTSW	1	36,511,258 (GRCm39)	missense	probably benign	0.10
R9615:Cnnm4	UTSW	1	36,511,893 (GRCm39)	missense	probably damaging	0.98
X0011:Cnnm4	UTSW	1	36,511,987 (GRCm39)	missense	probably damaging	1.00
Z1176:Cnnm4	UTSW	1	36,544,832 (GRCm39)	missense	possibly damaging	0.86

Posted On

2013-12-03