Mutagenetix > Incidental Mutation

Incidental Mutation 'R7836:Cnnm4'

605946

Institutional Source

Beutler Lab

Gene Symbol

Cnnm4

Ensembl Gene

ENSMUSG00000037408

Gene Name

cyclin M4

Synonyms

Acdp4, 5430430O18Rik

MMRRC Submission

045890-MU

Accession Numbers

Essential gene?

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

Stock #

R7836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36510701-36547845 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36511019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 82 (D82E)

Ref Sequence

ENSEMBL: ENSMUSP00000121317 (fasta)

Gene Model

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

AlphaFold

Q69ZF7

Predicted Effect

probably benign
Transcript: ENSMUST00000153128
AA Change: D82E

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

SMART Domains

Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408
AA Change: D82E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,984,203 (GRCm39)	S644R	probably benign	Het
Adra2a	A	G	19: 54,034,659 (GRCm39)	E5G	probably benign	Het
Ankrd1	A	T	19: 36,092,922 (GRCm39)	V201D	possibly damaging	Het
Ano9	A	T	7: 140,683,114 (GRCm39)	V598E	probably damaging	Het
Apob	T	A	12: 8,051,885 (GRCm39)	M1150K	possibly damaging	Het
BC005624	A	T	2: 30,864,032 (GRCm39)	I187N	probably damaging	Het
Bltp3b	C	T	10: 89,651,968 (GRCm39)	T1381I	probably benign	Het
Ccl9	T	C	11: 83,467,257 (GRCm39)	E31G	probably benign	Het
Coq10b	T	C	1: 55,092,013 (GRCm39)		probably benign	Het
Cplane1	T	G	15: 8,233,241 (GRCm39)	F1189V	probably damaging	Het
Cyb561	T	C	11: 105,830,935 (GRCm39)	N50S	probably benign	Het
Dctn4	G	T	18: 60,679,348 (GRCm39)	A223S	probably benign	Het
Dysf	A	G	6: 84,114,380 (GRCm39)	Y1223C	probably damaging	Het
Eed	C	T	7: 89,630,022 (GRCm39)		probably benign	Het
Eef1g	T	A	19: 8,954,738 (GRCm39)	V305E	probably benign	Het
Eif4ebp2	C	A	10: 61,270,772 (GRCm39)	A86S	probably benign	Het
Ermp1	T	C	19: 29,609,788 (GRCm39)		probably null	Het
Hid1	T	C	11: 115,249,821 (GRCm39)	Y198C	probably damaging	Het
Hoxd1	C	A	2: 74,593,816 (GRCm39)	A124E	probably benign	Het
Hyal5	G	A	6: 24,891,347 (GRCm39)	C387Y	probably damaging	Het
Il11	A	G	7: 4,778,999 (GRCm39)	S103P	probably damaging	Het
Lgalsl2	A	T	7: 5,362,507 (GRCm39)	K46M	probably damaging	Het
Lmtk3	A	C	7: 45,436,327 (GRCm39)	I128L	possibly damaging	Het
Lrrc4b	G	T	7: 44,094,316 (GRCm39)		probably benign	Het
Magel2	T	A	7: 62,028,116 (GRCm39)	I340N	possibly damaging	Het
Mfsd14a	A	T	3: 116,442,200 (GRCm39)	F71I	possibly damaging	Het
Mgarp	A	G	3: 51,296,487 (GRCm39)	S172P	probably benign	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Naa15	G	T	3: 51,370,688 (GRCm39)	E651*	probably null	Het
Ndfip2	T	C	14: 105,529,675 (GRCm39)	V168A	probably benign	Het
Neb	C	A	2: 52,113,373 (GRCm39)		probably null	Het
Nfil3	A	G	13: 53,121,968 (GRCm39)	V312A	possibly damaging	Het
Nrap	T	C	19: 56,338,729 (GRCm39)	I953V	probably benign	Het
Ntrk1	T	A	3: 87,687,041 (GRCm39)	K706*	probably null	Het
Nuf2	A	T	1: 169,352,898 (GRCm39)	F36I	probably benign	Het
Or51h7	T	A	7: 102,591,125 (GRCm39)	T220S	possibly damaging	Het
Or5aq7	T	C	2: 86,937,861 (GRCm39)	Y290C	probably damaging	Het
Pcdh8	T	G	14: 80,006,101 (GRCm39)	T821P	possibly damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ptch2	C	A	4: 116,962,224 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,081,719 (GRCm39)	I50V	probably benign	Het
Pth2r	G	T	1: 65,390,722 (GRCm39)	W292L	probably damaging	Het
Ptprd	G	A	4: 75,900,881 (GRCm39)	T825M	probably damaging	Het
Ptprk	T	C	10: 28,449,385 (GRCm39)	Y987H	probably damaging	Het
Qser1	T	C	2: 104,606,579 (GRCm39)	E1470G	probably damaging	Het
Rab11fip3	T	C	17: 26,287,232 (GRCm39)	E307G	possibly damaging	Het
Rims2	A	G	15: 39,544,475 (GRCm39)	Y1484C	probably damaging	Het
Rock1	A	T	18: 10,097,651 (GRCm39)		probably null	Het
Slc15a1	T	A	14: 121,718,145 (GRCm39)	K245*	probably null	Het
Snx11	T	A	11: 96,660,032 (GRCm39)	E219V	possibly damaging	Het
Sox21	C	A	14: 118,472,729 (GRCm39)	E107*	probably null	Het
Spink5	T	A	18: 44,132,888 (GRCm39)	H501Q	probably benign	Het
Stard5	C	T	7: 83,285,984 (GRCm39)	T103M	probably damaging	Het
Stfa2l1	A	T	16: 35,977,203 (GRCm39)		probably benign	Het
Sult1c2	A	C	17: 54,271,076 (GRCm39)	V185G	probably damaging	Het
Svs5	A	G	2: 164,079,500 (GRCm39)	S136P	possibly damaging	Het
Sytl3	T	A	17: 6,982,774 (GRCm39)		probably null	Het
Tc2n	C	T	12: 101,619,112 (GRCm39)	V349I	possibly damaging	Het
Tln1	A	G	4: 43,554,309 (GRCm39)	V271A	probably benign	Het
Tmem260	T	A	14: 48,746,519 (GRCm39)	S446R	probably benign	Het
Trim30a	T	C	7: 104,084,802 (GRCm39)	D136G	probably benign	Het
Ulk4	A	T	9: 120,873,885 (GRCm39)	I1182N	possibly damaging	Het
Unc50	T	G	1: 37,476,377 (GRCm39)	I179S	possibly damaging	Het
Upb1	T	A	10: 75,248,667 (GRCm39)	Y57*	probably null	Het
Usp34	C	T	11: 23,396,614 (GRCm39)	T2349I		Het
Vmn1r71	A	G	7: 10,482,277 (GRCm39)	V137A	possibly damaging	Het
Vmn1r85	T	C	7: 12,818,698 (GRCm39)	I149V	probably benign	Het
Vmn2r118	A	G	17: 55,900,242 (GRCm39)	L554P	probably damaging	Het
Wdr4	C	G	17: 31,718,782 (GRCm39)		probably null	Het
Zbbx	A	T	3: 74,985,781 (GRCm39)	S424T	possibly damaging	Het
Zfp207	C	G	11: 80,282,726 (GRCm39)	P246A	probably damaging	Het
Zfp414	T	A	17: 33,848,962 (GRCm39)	Y65*	probably null	Het
Zfp600	T	A	4: 146,133,523 (GRCm39)	N730K	probably benign	Het
Zfp827	T	C	8: 79,912,979 (GRCm39)	L1073P	probably damaging	Het
Zfp986	A	G	4: 145,625,691 (GRCm39)	K117R	possibly damaging	Het
Zgrf1	T	A	3: 127,357,080 (GRCm39)	Y769N	probably damaging	Het
Zup1	A	T	10: 33,795,315 (GRCm39)	I547N	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TCGCATGCAAATAAGGGGC -3'
(R):5'- CGCGTACAGCTTCATGTTC -3'

Sequencing Primer
(F):5'- TCTGACGTCAGGTCCTCG -3'
(R):5'- GTACAGCTTCATGTTCTCGCTC -3'

Posted On

2019-12-20