Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01310:Cnnm3'

73660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnnm3

Ensembl Gene

ENSMUSG00000001138

Gene Name

cyclin M3

Synonyms

Acdp3

Accession Numbers

Essential gene?

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

Stock #

IGL01310

Quality Score

Status

Chromosome

Chromosomal Location

36550948-36567318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36551956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 322 (D322G)

Ref Sequence

ENSEMBL: ENSMUSP00000095383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001166] [ENSMUST00000097776] [ENSMUST00000153128]

AlphaFold

Q32NY4

Predicted Effect

probably benign
Transcript: ENSMUST00000001166
AA Change: D322G

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138
AA Change: D322G

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
AA Change: D322G

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138
AA Change: D322G

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

probably benign
Transcript: ENSMUST00000153128

SMART Domains

Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154225

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930431F12Rik	A	T	5: 45,125,156 (GRCm39)		noncoding transcript	Het
Abca12	A	T	1: 71,323,315 (GRCm39)	I1589N	probably benign	Het
Abca8a	T	G	11: 109,950,801 (GRCm39)	D888A	probably benign	Het
Adam5	C	T	8: 25,232,150 (GRCm39)		probably benign	Het
Amer1	A	T	X: 94,470,716 (GRCm39)	N467K	probably benign	Het
Atp6v0a2	A	G	5: 124,783,968 (GRCm39)	D272G	probably damaging	Het
Cacna1b	A	T	2: 24,575,794 (GRCm39)	N751K	probably damaging	Het
Cfi	T	A	3: 129,652,080 (GRCm39)	N250K	probably damaging	Het
Cndp2	G	T	18: 84,689,002 (GRCm39)	P260Q	possibly damaging	Het
Crybg1	A	T	10: 43,851,054 (GRCm39)	S1606T	possibly damaging	Het
Crybg1	A	G	10: 43,879,596 (GRCm39)	S531P	probably damaging	Het
Espnl	A	T	1: 91,268,333 (GRCm39)	K320*	probably null	Het
Glt1d1	A	G	5: 127,709,384 (GRCm39)	T13A	possibly damaging	Het
Gpam	C	T	19: 55,066,764 (GRCm39)	A584T	possibly damaging	Het
Gpr19	A	G	6: 134,846,705 (GRCm39)	I289T	probably damaging	Het
Grm8	T	C	6: 27,363,800 (GRCm39)	I572V	probably damaging	Het
Gtpbp4	A	T	13: 9,027,308 (GRCm39)	N502K	probably benign	Het
Herpud2	T	C	9: 25,062,247 (GRCm39)	M6V	probably benign	Het
Igdcc3	T	C	9: 65,085,724 (GRCm39)	V263A	probably damaging	Het
Il33	G	A	19: 29,930,156 (GRCm39)	A65T	probably benign	Het
Itga9	T	A	9: 118,598,227 (GRCm39)	M1K	probably null	Het
Izumo3	T	C	4: 92,035,217 (GRCm39)		probably benign	Het
Kdr	G	A	5: 76,110,261 (GRCm39)	P909S	probably damaging	Het
Kirrel1	C	T	3: 86,997,182 (GRCm39)	E262K	probably benign	Het
Krt25	T	A	11: 99,208,996 (GRCm39)	Q278L	probably benign	Het
Lgi2	G	T	5: 52,711,807 (GRCm39)	P195Q	probably benign	Het
Lpcat3	T	C	6: 124,676,301 (GRCm39)	F120S	possibly damaging	Het
Nalcn	C	T	14: 123,554,661 (GRCm39)	R910Q	probably benign	Het
Nrxn1	A	G	17: 90,366,902 (GRCm39)		probably null	Het
Nuf2	A	T	1: 169,326,431 (GRCm39)	V440E	probably benign	Het
Or10ag60	T	A	2: 87,437,852 (GRCm39)	I40N	possibly damaging	Het
Or4f14	C	T	2: 111,742,652 (GRCm39)	V208M	probably benign	Het
Or51ah3	C	T	7: 103,210,008 (GRCm39)	S108F	probably benign	Het
Or6c205	T	C	10: 129,086,865 (GRCm39)	I154T	possibly damaging	Het
Pfpl	A	G	19: 12,405,974 (GRCm39)	D75G	probably damaging	Het
Pgm5	A	G	19: 24,812,130 (GRCm39)	V134A	possibly damaging	Het
Prkch	A	G	12: 73,805,787 (GRCm39)	I521V	possibly damaging	Het
Rps6kc1	T	A	1: 190,515,822 (GRCm39)	E968V	probably benign	Het
Slc25a30	T	C	14: 76,007,037 (GRCm39)	Y153C	probably damaging	Het
Smtnl2	T	A	11: 72,292,171 (GRCm39)		probably null	Het
Spmip4	C	A	6: 50,551,175 (GRCm39)	V425L	probably benign	Het
Tbc1d14	T	A	5: 36,700,544 (GRCm39)	K275*	probably null	Het
Tnc	T	C	4: 63,931,314 (GRCm39)	T799A	probably benign	Het
Trdn	A	T	10: 33,181,094 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,706,879 (GRCm39)		probably benign	Het
Uaca	T	C	9: 60,779,507 (GRCm39)	M1296T	probably benign	Het
Ubash3a	A	C	17: 31,434,116 (GRCm39)	I154L	probably benign	Het
Vmn2r4	T	A	3: 64,317,200 (GRCm39)		probably null	Het
Xpc	T	C	6: 91,467,089 (GRCm39)	K915E	probably benign	Het
Zfp318	T	C	17: 46,724,153 (GRCm39)	I2052T	possibly damaging	Het

Other mutations in Cnnm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5810:Cnnm3	UTSW	1	36,564,280 (GRCm39)	missense	probably benign	0.02
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

Posted On

2013-10-07