Mutagenetix > Incidental Mutation

Incidental Mutation 'R5810:Cnnm3'

447437

Institutional Source

Beutler Lab

Gene Symbol

Cnnm3

Ensembl Gene

ENSMUSG00000001138

Gene Name

cyclin M3

Synonyms

Acdp3

MMRRC Submission

043395-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36550948-36567318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36564280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 704 (E704G)

Ref Sequence

ENSEMBL: ENSMUSP00000001166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001166] [ENSMUST00000097776] [ENSMUST00000191849] [ENSMUST00000193083]

AlphaFold

Q32NY4

Predicted Effect

probably benign
Transcript: ENSMUST00000001166
AA Change: E704G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138
AA Change: E704G

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 benign
Transcript: ENSMUST00000097776

SMART Domains

Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138

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

probably benign
Transcript: ENSMUST00000191849

SMART Domains

Protein: ENSMUSP00000142202
Gene: ENSMUSG00000109510

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	9e-9	BLAST
ANK	30	59	1.12e-3	SMART
ANK	63	92	1.4e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192037

Predicted Effect

probably benign
Transcript: ENSMUST00000193083

SMART Domains

Protein: ENSMUSP00000141394
Gene: ENSMUSG00000067653

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	1e-8	BLAST
ANK	30	59	6.9e-6	SMART
ANK	63	92	8.9e-7	SMART
ANK	96	125	5.7e-7	SMART
ANK	129	158	4.6e-6	SMART

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,079,631 (GRCm39)	F866L	probably benign	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Actl11	C	T	9: 107,806,420 (GRCm39)	P248S	probably benign	Het
Actr3	A	G	1: 125,344,116 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,974,500 (GRCm39)		probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,005,638 (GRCm39)		probably null	Het
Car13	A	C	3: 14,706,828 (GRCm39)		probably null	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cyp4f14	T	A	17: 33,125,072 (GRCm39)	I450F	possibly damaging	Het
Ddhd1	G	T	14: 45,840,164 (GRCm39)	T710N	probably damaging	Het
Ddx60	C	T	8: 62,465,422 (GRCm39)	Q1360*	probably null	Het
Dlg5	A	G	14: 24,196,322 (GRCm39)	V1625A	probably damaging	Het
Dst	G	A	1: 34,222,121 (GRCm39)		probably benign	Het
Dyrk2	G	T	10: 118,696,245 (GRCm39)	H338N	probably benign	Het
Epb41l1	A	T	2: 156,341,575 (GRCm39)	I187F	probably damaging	Het
Esd	A	G	14: 74,983,051 (GRCm39)	D221G	probably damaging	Het
Fam53b	T	A	7: 132,361,893 (GRCm39)	N45I	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,248,098 (GRCm39)	D1006E	probably benign	Het
Gli3	T	C	13: 15,818,894 (GRCm39)	V232A	probably damaging	Het
Gm28308	C	A	6: 52,190,196 (GRCm39)		probably benign	Het
Gpatch1	G	A	7: 34,994,796 (GRCm39)	A490V	probably benign	Het
Hoxa7	T	C	6: 52,193,004 (GRCm39)	D128G	probably benign	Het
Igdcc4	A	G	9: 65,035,977 (GRCm39)	T751A	probably damaging	Het
Igsf10	G	A	3: 59,226,492 (GRCm39)	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,738,063 (GRCm39)		probably null	Het
Il17re	C	T	6: 113,446,557 (GRCm39)	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,671,124 (GRCm39)		probably benign	Het
Larp7-ps	A	T	4: 92,079,820 (GRCm39)		probably null	Het
Lgals12	T	C	19: 7,584,085 (GRCm39)	D4G	probably benign	Het
Liph	A	T	16: 21,786,860 (GRCm39)	L252Q	probably damaging	Het
Mtg1	T	A	7: 139,725,898 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,982,316 (GRCm39)	L1139P	probably damaging	Het
Ninl	T	C	2: 150,792,088 (GRCm39)	R812G	probably benign	Het
Npm3	A	G	19: 45,736,644 (GRCm39)	I165T	possibly damaging	Het
Or1e22	G	T	11: 73,376,921 (GRCm39)	S243*	probably null	Het
Osbpl9	A	G	4: 108,943,571 (GRCm39)	V231A	probably benign	Het
Pgam2	T	C	11: 5,753,417 (GRCm39)	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,270,897 (GRCm39)	W3219R	probably benign	Het
Procr	A	G	2: 155,593,327 (GRCm39)	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,471,314 (GRCm39)	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,601,222 (GRCm39)	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,003,598 (GRCm39)	C500S	probably damaging	Het
Snrpd2	G	T	7: 18,886,447 (GRCm39)	V77F	probably benign	Het
Sp100	G	A	1: 85,593,006 (GRCm39)	G145D	probably benign	Het
Spg7	G	A	8: 123,821,308 (GRCm39)	E678K	possibly damaging	Het
Ssh1	T	C	5: 114,084,627 (GRCm39)	K538E	probably benign	Het
Sspo	C	T	6: 48,460,832 (GRCm39)	R3356W	probably benign	Het
Stx1a	G	T	5: 135,077,932 (GRCm39)	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,032,380 (GRCm39)	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,264,768 (GRCm39)		probably benign	Het
Tpm2	T	C	4: 43,518,968 (GRCm39)		probably benign	Het
Triobp	T	C	15: 78,852,467 (GRCm39)	C874R	probably benign	Het
Tymp	T	A	15: 89,258,534 (GRCm39)	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,428,597 (GRCm39)	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,897,804 (GRCm39)	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,024,815 (GRCm39)	C589S	probably damaging	Het
Vps13a	T	C	19: 16,643,688 (GRCm39)	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,510 (GRCm39)	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,541,579 (GRCm39)	Y54*	probably null	Het
Zswim9	A	T	7: 12,994,662 (GRCm39)	V498D	probably damaging	Het

Other mutations in Cnnm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Cnnm3	APN	1	36,551,956 (GRCm39)	missense	probably benign	0.12
IGL02679:Cnnm3	APN	1	36,559,239 (GRCm39)	missense	probably benign	0.01
IGL02700:Cnnm3	APN	1	36,552,189 (GRCm39)	missense	probably damaging	1.00
IGL03165:Cnnm3	APN	1	36,564,313 (GRCm39)	unclassified	probably benign
R0003:Cnnm3	UTSW	1	36,563,124 (GRCm39)	missense	probably benign	0.02
R0358:Cnnm3	UTSW	1	36,560,303 (GRCm39)	missense	probably damaging	0.98
R1129:Cnnm3	UTSW	1	36,552,097 (GRCm39)	missense	probably damaging	1.00
R1772:Cnnm3	UTSW	1	36,558,038 (GRCm39)	missense	probably damaging	1.00
R2929:Cnnm3	UTSW	1	36,563,140 (GRCm39)	missense	possibly damaging	0.55
R3153:Cnnm3	UTSW	1	36,560,303 (GRCm39)	missense	probably damaging	0.98
R3154:Cnnm3	UTSW	1	36,560,303 (GRCm39)	missense	probably damaging	0.98
R5376:Cnnm3	UTSW	1	36,559,759 (GRCm39)	missense	probably damaging	1.00
R6389:Cnnm3	UTSW	1	36,559,603 (GRCm39)	missense	probably damaging	0.99
R8288:Cnnm3	UTSW	1	36,551,074 (GRCm39)	missense	possibly damaging	0.93
R8951:Cnnm3	UTSW	1	36,558,019 (GRCm39)	splice site	probably benign
R8959:Cnnm3	UTSW	1	36,558,096 (GRCm39)	missense	probably damaging	1.00
R9068:Cnnm3	UTSW	1	36,551,962 (GRCm39)	missense	probably damaging	1.00
R9121:Cnnm3	UTSW	1	36,563,158 (GRCm39)	nonsense	probably null
X0064:Cnnm3	UTSW	1	36,552,061 (GRCm39)	missense	probably damaging	1.00
Z1177:Cnnm3	UTSW	1	36,552,114 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAAGGCTTTGCTGGTTCCTG -3'
(R):5'- TGTCAACCCCATCTCCTCAAGG -3'

Sequencing Primer
(F):5'- CTGAGGTGTTCTGAGGCCCATC -3'
(R):5'- TCTCCTCAAGGACAGCAGG -3'

Posted On

2016-12-15