Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Cpne9'

428421

Institutional Source

Beutler Lab

Gene Symbol

Cpne9

Ensembl Gene

ENSMUSG00000030270

Gene Name

copine family member IX

Synonyms

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113282307-113305627 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 113304630 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000113117] [ENSMUST00000113119] [ENSMUST00000113121] [ENSMUST00000113122] [ENSMUST00000130191] [ENSMUST00000203577] [ENSMUST00000204198] [ENSMUST00000204626]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041203

SMART Domains

Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270

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: ENSMUST00000113117

SMART Domains

Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	1e-35	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	762	773	N/A	INTRINSIC
low complexity region	855	869	N/A	INTRINSIC
low complexity region	901	911	N/A	INTRINSIC
low complexity region	940	964	N/A	INTRINSIC
low complexity region	993	1019	N/A	INTRINSIC
low complexity region	1078	1090	N/A	INTRINSIC
PWWP	1115	1198	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113119

SMART Domains

Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	8.5e-39	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	902	912	N/A	INTRINSIC
low complexity region	941	965	N/A	INTRINSIC
low complexity region	994	1020	N/A	INTRINSIC
low complexity region	1079	1091	N/A	INTRINSIC
PWWP	1116	1199	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113121

SMART Domains

Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	5.5e-36	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	902	912	N/A	INTRINSIC
low complexity region	941	965	N/A	INTRINSIC
low complexity region	994	1020	N/A	INTRINSIC
PWWP	1082	1165	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113122

SMART Domains

Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	5.5e-36	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	762	773	N/A	INTRINSIC
low complexity region	855	869	N/A	INTRINSIC
low complexity region	901	911	N/A	INTRINSIC
low complexity region	940	964	N/A	INTRINSIC
low complexity region	993	1019	N/A	INTRINSIC
PWWP	1081	1164	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203569

Predicted Effect

probably benign
Transcript: ENSMUST00000203577

SMART Domains

Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	5.1e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	739	1.3e-34	SMART
low complexity region	768	779	N/A	INTRINSIC
low complexity region	861	875	N/A	INTRINSIC
low complexity region	907	917	N/A	INTRINSIC
low complexity region	946	970	N/A	INTRINSIC
low complexity region	999	1025	N/A	INTRINSIC
low complexity region	1084	1096	N/A	INTRINSIC
PWWP	1121	1204	2.6e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204198

SMART Domains

Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	4.4e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1e-39	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	899	925	N/A	INTRINSIC
PWWP	987	1070	2.6e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204626

SMART Domains

Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	4.9e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	739	1.3e-34	SMART
low complexity region	768	779	N/A	INTRINSIC
low complexity region	861	875	N/A	INTRINSIC
low complexity region	907	917	N/A	INTRINSIC
low complexity region	946	970	N/A	INTRINSIC
low complexity region	999	1025	N/A	INTRINSIC
PWWP	1087	1170	2.6e-44	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	probably benign	Het

Other mutations in Cpne9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Cpne9	APN	6	113293022	missense	possibly damaging	0.54
IGL02318:Cpne9	APN	6	113293738	missense	possibly damaging	0.74
IGL02800:Cpne9	APN	6	113302073	missense	probably benign	0.40
IGL02819:Cpne9	APN	6	113300663	missense	probably damaging	0.99
IGL03111:Cpne9	APN	6	113300610	missense	possibly damaging	0.79
measured	UTSW	6	113290013	missense	probably damaging	0.98
prudence	UTSW	6	113284445	missense	possibly damaging	0.69
PIT4366001:Cpne9	UTSW	6	113294746	missense	probably damaging	1.00
R0145:Cpne9	UTSW	6	113300601	missense	probably damaging	0.97
R0319:Cpne9	UTSW	6	113294693	missense	probably damaging	1.00
R0514:Cpne9	UTSW	6	113290013	missense	probably damaging	0.98
R0586:Cpne9	UTSW	6	113295063	missense	probably damaging	0.96
R0594:Cpne9	UTSW	6	113290400	splice site	probably benign
R1464:Cpne9	UTSW	6	113294737	missense	probably damaging	1.00
R1464:Cpne9	UTSW	6	113294737	missense	probably damaging	1.00
R4184:Cpne9	UTSW	6	113282457	unclassified	probably benign
R4243:Cpne9	UTSW	6	113283023	unclassified	probably benign
R4256:Cpne9	UTSW	6	113283023	unclassified	probably benign
R4258:Cpne9	UTSW	6	113283023	unclassified	probably benign
R4412:Cpne9	UTSW	6	113290001	missense	possibly damaging	0.78
R4690:Cpne9	UTSW	6	113302055	missense	probably damaging	1.00
R5062:Cpne9	UTSW	6	113304488	missense	probably damaging	0.99
R5249:Cpne9	UTSW	6	113293073	splice site	probably benign
R5523:Cpne9	UTSW	6	113290231	missense	probably damaging	1.00
R5979:Cpne9	UTSW	6	113293749	missense	probably benign	0.44
R6207:Cpne9	UTSW	6	113294773	missense	possibly damaging	0.88
R6849:Cpne9	UTSW	6	113302118	missense	probably damaging	0.98
R6989:Cpne9	UTSW	6	113300583	missense	possibly damaging	0.95
R7376:Cpne9	UTSW	6	113290013	missense	probably damaging	0.98
R7524:Cpne9	UTSW	6	113302064	missense	probably damaging	1.00
R7631:Cpne9	UTSW	6	113302118	missense	possibly damaging	0.72
R7689:Cpne9	UTSW	6	113290004	missense	probably damaging	1.00
R7757:Cpne9	UTSW	6	113284445	missense	possibly damaging	0.69
R8134:Cpne9	UTSW	6	113295042	missense	probably benign	0.16
R8418:Cpne9	UTSW	6	113283437	missense	possibly damaging	0.95
R8810:Cpne9	UTSW	6	113304545	missense	probably damaging	0.99
R8833:Cpne9	UTSW	6	113304512	missense	probably damaging	1.00
R9174:Cpne9	UTSW	6	113302071	missense	probably damaging	1.00
R9503:Cpne9	UTSW	6	113294771	missense	possibly damaging	0.67
R9520:Cpne9	UTSW	6	113304452	missense	probably damaging	1.00
R9738:Cpne9	UTSW	6	113290440	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCCATTCCGAGATTATGTTGACC -3'
(R):5'- ACCCATGAGACAGAGACTGC -3'

Sequencing Primer
(F):5'- CATTCCGAGATTATGTTGACCGATCG -3'
(R):5'- AGACTGCGTAAGATGAGCTTTATTG -3'

Posted On

2016-09-01