Mutagenetix > Incidental Mutation

Incidental Mutation 'R9231:Cnnm4'

700210

Institutional Source

Beutler Lab

Gene Symbol

Cnnm4

Ensembl Gene

ENSMUSG00000037408

Gene Name

cyclin M4

Synonyms

Acdp4, 5430430O18Rik

MMRRC Submission

068985-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R9231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36510701-36547845 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36511258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 162 (D162V)

Ref Sequence

ENSEMBL: ENSMUSP00000121317 (fasta)

Gene Model

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

AlphaFold

Q69ZF7

Predicted Effect

probably benign
Transcript: ENSMUST00000153128
AA Change: D162V

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408
AA Change: D162V

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

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

98% (60/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,349,153 (GRCm39)	Q1073R	probably benign	Het
Akirin2	A	G	4: 34,551,072 (GRCm39)	T10A	possibly damaging	Het
Ankrd13a	T	A	5: 114,942,295 (GRCm39)	I526N	probably damaging	Het
Ankrd28	A	G	14: 31,429,234 (GRCm39)	V876A	possibly damaging	Het
Aqp8	T	A	7: 123,061,813 (GRCm39)	M11K	probably benign	Het
Catsper3	T	C	13: 55,946,705 (GRCm39)	I134T	possibly damaging	Het
Cdk9	G	T	2: 32,598,006 (GRCm39)	T350N	probably benign	Het
Ckmt2	G	T	13: 92,011,311 (GRCm39)	H100N	probably damaging	Het
Cnppd1	T	C	1: 75,116,261 (GRCm39)	H108R	possibly damaging	Het
Col17a1	G	A	19: 47,667,861 (GRCm39)	R139*	probably null	Het
Cyp2c65	C	T	19: 39,060,661 (GRCm39)	P174S	possibly damaging	Het
Dync2li1	A	G	17: 84,935,819 (GRCm39)	S39G	probably null	Het
Ecpas	A	G	4: 58,875,533 (GRCm39)	Y144H	probably damaging	Het
Eif2ak4	A	G	2: 118,271,662 (GRCm39)	D882G	probably benign	Het
Emp1	C	T	6: 135,354,276 (GRCm39)	T23I	probably damaging	Het
Epha8	T	A	4: 136,673,226 (GRCm39)	D186V	probably damaging	Het
Fam169a	T	G	13: 97,254,967 (GRCm39)	D394E	probably benign	Het
Fam20b	T	C	1: 156,509,084 (GRCm39)	D376G	probably benign	Het
Fgfbp3	C	T	19: 36,896,193 (GRCm39)	A142T	possibly damaging	Het
Flg2	C	T	3: 93,109,508 (GRCm39)	S512L	unknown	Het
Fras1	T	A	5: 96,692,904 (GRCm39)	C188S	probably damaging	Het
Galr2	T	C	11: 116,174,335 (GRCm39)	C322R	probably benign	Het
Gbe1	T	A	16: 70,284,989 (GRCm39)	M437K	possibly damaging	Het
Glt1d1	T	A	5: 127,754,341 (GRCm39)	L181Q	probably damaging	Het
Gpr180	G	A	14: 118,395,455 (GRCm39)	V296I	probably damaging	Het
Gucy1a1	C	T	3: 82,013,308 (GRCm39)	E445K	probably damaging	Het
H2-T24	T	C	17: 36,331,363 (GRCm39)	D14G	possibly damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Ing5	T	G	1: 93,739,505 (GRCm39)	D37E	probably benign	Het
Kcnt1	A	G	2: 25,801,074 (GRCm39)	T1051A	probably benign	Het
Kif1b	A	T	4: 149,275,652 (GRCm39)	S1420T	possibly damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kmt2a	A	G	9: 44,759,912 (GRCm39)	F646L	probably damaging	Het
Lrp1	T	C	10: 127,382,268 (GRCm39)	D3731G	probably benign	Het
Mif	T	A	10: 75,695,370 (GRCm39)	I97F	probably damaging	Het
Mpp4	A	T	1: 59,163,833 (GRCm39)	V507D	probably damaging	Het
Mrpl1	C	A	5: 96,361,719 (GRCm39)	N35K	probably benign	Het
Naf1	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,146 (GRCm39)		probably benign	Het
Nat8f6	A	G	6: 85,785,630 (GRCm39)	V173A	probably damaging	Het
Ninl	C	T	2: 150,792,129 (GRCm39)	R798Q	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Or10a49	T	C	7: 108,467,840 (GRCm39)	I174V	possibly damaging	Het
Or1af1	A	T	2: 37,109,989 (GRCm39)	M163L	possibly damaging	Het
Paqr8	A	G	1: 21,005,875 (GRCm39)	H343R	probably benign	Het
Parp14	A	G	16: 35,661,583 (GRCm39)	V1455A	probably damaging	Het
Parp3	A	T	9: 106,350,891 (GRCm39)	S334T	probably benign	Het
Pcbp2	T	G	15: 102,394,477 (GRCm39)		probably null	Het
Perm1	A	T	4: 156,302,234 (GRCm39)	E259D	probably damaging	Het
Plce1	A	T	19: 38,705,040 (GRCm39)	N815I	probably benign	Het
Plxnb1	A	T	9: 108,934,286 (GRCm39)	D838V	possibly damaging	Het
Prdm12	A	G	2: 31,530,265 (GRCm39)	D52G	probably benign	Het
Rac2	T	C	15: 78,450,223 (GRCm39)	N39S	probably damaging	Het
Smchd1	A	T	17: 71,672,084 (GRCm39)	C1657S	probably benign	Het
Sugct	T	A	13: 17,627,071 (GRCm39)	T261S	probably damaging	Het
Tbc1d10a	T	C	11: 4,164,885 (GRCm39)	L446P	probably damaging	Het
Tcp1	T	A	17: 13,136,761 (GRCm39)	D47E	probably damaging	Het
Tenm3	T	A	8: 48,689,231 (GRCm39)	T2119S	probably damaging	Het
Tent5a	T	G	9: 85,208,388 (GRCm39)	D145A	possibly damaging	Het
Tmem132b	T	C	5: 125,860,531 (GRCm39)	M592T	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Vinac1	A	T	2: 128,879,340 (GRCm39)	I862N	unknown	Het
Washc2	C	A	6: 116,235,899 (GRCm39)	D1123E	probably benign	Het
Wee2	A	G	6: 40,440,089 (GRCm39)	I412M	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
IGL01534:Cnnm4	APN	1	36,538,596 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGATCTCCTTCACCGAGGTG -3'
(R):5'- TCAGTTCCACAGTTCTGCACG -3'

Sequencing Primer
(F):5'- TTCACCGAGGTGGACGAC -3'
(R):5'- ATAAGCCCCAGGTTGAG -3'

Posted On

2022-02-07