Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Cpne9'

88326

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpne9

Ensembl Gene

ENSMUSG00000030270

Gene Name

copine family member IX

Synonyms

A730016F12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

113259244-113282532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 113269983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 281 (S281Y)

Ref Sequence

ENSEMBL: ENSMUSP00000044416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000130191]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041203
AA Change: S281Y

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: S281Y

Domain	Start	End	E-Value	Type
C2	14	122	2.12e-10	SMART
C2	143	257	5.15e-9	SMART
VWA	297	495	4.4e-10	SMART
low complexity region	536	553	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136728

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	probably damaging	Het

Other mutations in Cpne9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Cpne9	APN	6	113,270,699 (GRCm39)	missense	possibly damaging	0.74
IGL02800:Cpne9	APN	6	113,279,034 (GRCm39)	missense	probably benign	0.40
IGL02819:Cpne9	APN	6	113,277,624 (GRCm39)	missense	probably damaging	0.99
IGL03111:Cpne9	APN	6	113,277,571 (GRCm39)	missense	possibly damaging	0.79
measured	UTSW	6	113,266,974 (GRCm39)	missense	probably damaging	0.98
prudence	UTSW	6	113,261,406 (GRCm39)	missense	possibly damaging	0.69
PIT4366001:Cpne9	UTSW	6	113,271,707 (GRCm39)	missense	probably damaging	1.00
R0145:Cpne9	UTSW	6	113,277,562 (GRCm39)	missense	probably damaging	0.97
R0319:Cpne9	UTSW	6	113,271,654 (GRCm39)	missense	probably damaging	1.00
R0514:Cpne9	UTSW	6	113,266,974 (GRCm39)	missense	probably damaging	0.98
R0586:Cpne9	UTSW	6	113,272,024 (GRCm39)	missense	probably damaging	0.96
R0594:Cpne9	UTSW	6	113,267,361 (GRCm39)	splice site	probably benign
R1464:Cpne9	UTSW	6	113,271,698 (GRCm39)	missense	probably damaging	1.00
R1464:Cpne9	UTSW	6	113,271,698 (GRCm39)	missense	probably damaging	1.00
R4184:Cpne9	UTSW	6	113,259,418 (GRCm39)	unclassified	probably benign
R4243:Cpne9	UTSW	6	113,259,984 (GRCm39)	unclassified	probably benign
R4256:Cpne9	UTSW	6	113,259,984 (GRCm39)	unclassified	probably benign
R4258:Cpne9	UTSW	6	113,259,984 (GRCm39)	unclassified	probably benign
R4412:Cpne9	UTSW	6	113,266,962 (GRCm39)	missense	possibly damaging	0.78
R4690:Cpne9	UTSW	6	113,279,016 (GRCm39)	missense	probably damaging	1.00
R5062:Cpne9	UTSW	6	113,281,449 (GRCm39)	missense	probably damaging	0.99
R5249:Cpne9	UTSW	6	113,270,034 (GRCm39)	splice site	probably benign
R5437:Cpne9	UTSW	6	113,281,591 (GRCm39)	unclassified	probably benign
R5523:Cpne9	UTSW	6	113,267,192 (GRCm39)	missense	probably damaging	1.00
R5979:Cpne9	UTSW	6	113,270,710 (GRCm39)	missense	probably benign	0.44
R6207:Cpne9	UTSW	6	113,271,734 (GRCm39)	missense	possibly damaging	0.88
R6849:Cpne9	UTSW	6	113,279,079 (GRCm39)	missense	probably damaging	0.98
R6989:Cpne9	UTSW	6	113,277,544 (GRCm39)	missense	possibly damaging	0.95
R7376:Cpne9	UTSW	6	113,266,974 (GRCm39)	missense	probably damaging	0.98
R7524:Cpne9	UTSW	6	113,279,025 (GRCm39)	missense	probably damaging	1.00
R7631:Cpne9	UTSW	6	113,279,079 (GRCm39)	missense	possibly damaging	0.72
R7689:Cpne9	UTSW	6	113,266,965 (GRCm39)	missense	probably damaging	1.00
R7757:Cpne9	UTSW	6	113,261,406 (GRCm39)	missense	possibly damaging	0.69
R8134:Cpne9	UTSW	6	113,272,003 (GRCm39)	missense	probably benign	0.16
R8418:Cpne9	UTSW	6	113,260,398 (GRCm39)	missense	possibly damaging	0.95
R8810:Cpne9	UTSW	6	113,281,506 (GRCm39)	missense	probably damaging	0.99
R8833:Cpne9	UTSW	6	113,281,473 (GRCm39)	missense	probably damaging	1.00
R9174:Cpne9	UTSW	6	113,279,032 (GRCm39)	missense	probably damaging	1.00
R9503:Cpne9	UTSW	6	113,271,732 (GRCm39)	missense	possibly damaging	0.67
R9520:Cpne9	UTSW	6	113,281,413 (GRCm39)	missense	probably damaging	1.00
R9738:Cpne9	UTSW	6	113,267,401 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-11-18