Mutagenetix > Incidental Mutations

Incidental Mutation 'R6389:Cnnm3'

515660

Institutional Source

Beutler Lab

Gene Symbol

Cnnm3

Ensembl Gene

ENSMUSG00000001138

Gene Name

cyclin M3

Synonyms

Acdp3

MMRRC Submission

Accession Numbers

Genbank: NM_053186, NM_001039551; MGI: 2151055

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R6389 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

36511867-36528237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36520522 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 514 (V514A)

Ref Sequence

ENSEMBL: ENSMUSP00000095383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001166] [ENSMUST00000097776]

Predicted Effect

probably damaging
Transcript: ENSMUST00000001166
AA Change: V514A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138
AA Change: V514A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	25	35	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF21	142	295	3.2e-10	PFAM
Blast:CBS	329	379	9e-12	BLAST
Pfam:CBS	388	452	6.4e-6	PFAM
Blast:cNMP	527	668	2e-38	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000097776
AA Change: V514A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138
AA Change: V514A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	25	35	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF21	142	300	1e-19	PFAM
Blast:CBS	329	379	9e-12	BLAST
Pfam:CBS	388	452	5.1e-6	PFAM
Blast:cNMP	527	668	1e-37	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195264

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,497,830	L326R	possibly damaging	Het
5430403G16Rik	G	A	5: 109,676,019	P522S	possibly damaging	Het
Abcb11	A	T	2: 69,323,894	N109K	probably damaging	Het
Actn1	T	A	12: 80,174,522	M586L	probably benign	Het
Ago4	T	A	4: 126,507,244	I603F	probably damaging	Het
Bicc1	A	T	10: 70,958,922	V135D	probably damaging	Het
Bms1	T	C	6: 118,403,235	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,499,534	Q78P	probably benign	Het
Ccdc114	G	T	7: 45,948,516	V617F	probably benign	Het
Cfap74	T	C	4: 155,423,336	I248T	possibly damaging	Het
Clu	G	C	14: 65,971,322		probably benign	Het
Cntd1	A	T	11: 101,285,751	I225F	probably damaging	Het
Col20a1	T	C	2: 180,992,583		probably null	Het
Ctnnal1	A	G	4: 56,813,849	V640A	probably benign	Het
Cul4a	A	G	8: 13,140,278	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,545,183	S270P	probably damaging	Het
Dmp1	A	T	5: 104,212,922	N488I	probably damaging	Het
Dnah14	G	A	1: 181,651,202		probably null	Het
Dst	T	C	1: 34,193,184	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,745,535	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,623,968	F304I	probably damaging	Het
Gm13941	T	C	2: 111,098,389	Q108R	unknown	Het
Hcn3	C	T	3: 89,150,933	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,678,056	D460G	probably damaging	Het
Ism2	T	C	12: 87,282,371	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,271,472	N156S	probably damaging	Het
Ksr2	A	G	5: 117,414,842	N5S	probably benign	Het
Lrrc7	T	G	3: 158,185,426	E368A	probably damaging	Het
Ly9	G	C	1: 171,596,537	S482C	probably damaging	Het
Map3k1	T	C	13: 111,769,441	D289G	probably damaging	Het
Mcub	T	C	3: 129,918,708	T173A	probably benign	Het
Mup16	T	C	4: 61,518,940	E48G	probably damaging	Het
Naf1	C	T	8: 66,861,028	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,395,816	S2024P	probably damaging	Het
Nop56	C	A	2: 130,277,887	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,363,471	Y265H	probably damaging	Het
Olfr1151	C	T	2: 87,858,023	P283S	probably damaging	Het
Olfr1197	A	G	2: 88,728,672	V309A	probably benign	Het
Olfr551	A	T	7: 102,588,472	N90K	probably benign	Het
Oxct2a	T	A	4: 123,323,427	K54*	probably null	Het
Oxct2b	G	T	4: 123,116,574	D96Y	probably benign	Het
Pisd	A	G	5: 32,764,847	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,366,894	N1071K	probably benign	Het
Prr11	G	A	11: 87,098,738	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,721,954	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,056,627	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,245,354	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,580,684	I57V	probably benign	Het
Spag9	A	G	11: 94,086,311	E81G	probably damaging	Het
Tbr1	A	G	2: 61,806,287		probably benign	Het
Tnrc6c	A	G	11: 117,722,741	D735G	probably damaging	Het
Tspan17	A	T	13: 54,795,616		probably null	Het
Tyw5	T	C	1: 57,391,499	K175R	probably damaging	Het
Ube2o	A	C	11: 116,548,858	I162R	probably null	Het
Ubr1	G	T	2: 120,881,039	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,330,478	Q33L	probably benign	Het
Zfp799	A	G	17: 32,820,578	L238P	probably damaging	Het

Other mutations in Cnnm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Cnnm3	APN	1	36512875	missense	probably benign	0.12
IGL02679:Cnnm3	APN	1	36520158	missense	probably benign	0.01
IGL02700:Cnnm3	APN	1	36513108	missense	probably damaging	1.00
IGL03165:Cnnm3	APN	1	36525232	unclassified	probably benign
R0003:Cnnm3	UTSW	1	36524043	missense	probably benign	0.02
R0358:Cnnm3	UTSW	1	36521222	missense	probably damaging	0.98
R1129:Cnnm3	UTSW	1	36513016	missense	probably damaging	1.00
R1772:Cnnm3	UTSW	1	36518957	missense	probably damaging	1.00
R2929:Cnnm3	UTSW	1	36524059	missense	possibly damaging	0.55
R3153:Cnnm3	UTSW	1	36521222	missense	probably damaging	0.98
R3154:Cnnm3	UTSW	1	36521222	missense	probably damaging	0.98
R5376:Cnnm3	UTSW	1	36520678	missense	probably damaging	1.00
R5810:Cnnm3	UTSW	1	36525199	missense	probably benign	0.02
R8288:Cnnm3	UTSW	1	36511993	missense	possibly damaging	0.93
X0064:Cnnm3	UTSW	1	36512980	missense	probably damaging	1.00
Z1177:Cnnm3	UTSW	1	36513033	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCTCCTGGTAAGGCGTGTTC -3'
(R):5'- TATGTCTGGATCACTCTCAGGC -3'

Sequencing Primer
(F):5'- AAGGCGTGTTCTGGGAAC -3'
(R):5'- GTTAACCACGGTTACCTGCAGAATG -3'

Posted On

2018-05-04