Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Ccar1'

181462

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccar1

Ensembl Gene

ENSMUSG00000020074

Gene Name

cell division cycle and apoptosis regulator 1

Synonyms

9430036H15Rik, Carp1, 2610511G16Rik

Accession Numbers

Genbank: NM_026201.3; Ensembl: ENSMUST00000020268

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

62743928-62792286 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62790935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 20 (A20V)

Ref Sequence

ENSEMBL: ENSMUSP00000151895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020268] [ENSMUST00000217768] [ENSMUST00000218229] [ENSMUST00000218946] [ENSMUST00000219527]

AlphaFold

Q8CH18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020268
AA Change: A20V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: A20V

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
low complexity region	62	106	N/A	INTRINSIC
Pfam:S1-like	144	201	1.7e-34	PFAM
low complexity region	236	254	N/A	INTRINSIC
low complexity region	256	279	N/A	INTRINSIC
low complexity region	311	358	N/A	INTRINSIC
DBC1	475	606	4.46e-90	SMART
SAP	633	667	5.25e-9	SMART
Blast:HDc	753	784	1e-7	BLAST
coiled coil region	792	819	N/A	INTRINSIC
low complexity region	871	895	N/A	INTRINSIC
SCOP:d1hqva_	898	964	5e-3	SMART
Blast:HDc	921	979	5e-17	BLAST
coiled coil region	1029	1111	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217768
AA Change: A20V

PolyPhen 2 Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217940

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218229
AA Change: A20V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000218946
AA Change: A20V

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219527
AA Change: A20V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(45) : Targeted, other(4) Gene trapped(41)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Ccar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Ccar1	APN	10	62753234	missense	unknown
IGL01291:Ccar1	APN	10	62756649	missense	probably damaging	1.00
IGL01364:Ccar1	APN	10	62776874	splice site	probably null
IGL01777:Ccar1	APN	10	62780577	missense	possibly damaging	0.71
IGL03096:Ccar1	APN	10	62764333	missense	probably benign	0.20
Lonk	UTSW	10	62764533	missense	probably damaging	1.00
1mM(1):Ccar1	UTSW	10	62783886	missense	probably benign	0.00
ANU05:Ccar1	UTSW	10	62756649	missense	probably damaging	1.00
R0440:Ccar1	UTSW	10	62780457	missense	possibly damaging	0.94
R1295:Ccar1	UTSW	10	62783882	critical splice donor site	probably null
R1573:Ccar1	UTSW	10	62750655	missense	unknown
R1585:Ccar1	UTSW	10	62751001	missense	unknown
R1633:Ccar1	UTSW	10	62751014	missense	unknown
R1840:Ccar1	UTSW	10	62763510	missense	probably damaging	0.98
R1854:Ccar1	UTSW	10	62764517	missense	probably damaging	1.00
R1905:Ccar1	UTSW	10	62776658	missense	possibly damaging	0.85
R2011:Ccar1	UTSW	10	62776694	missense	probably benign	0.03
R2041:Ccar1	UTSW	10	62766048	missense	probably damaging	1.00
R2202:Ccar1	UTSW	10	62745287	missense	unknown
R2327:Ccar1	UTSW	10	62764382	missense	probably damaging	1.00
R2932:Ccar1	UTSW	10	62776759	missense	probably benign	0.08
R3040:Ccar1	UTSW	10	62756494	missense	possibly damaging	0.83
R4647:Ccar1	UTSW	10	62747417	nonsense	probably null
R4829:Ccar1	UTSW	10	62745335	missense	unknown
R4887:Ccar1	UTSW	10	62753218	missense	unknown
R4888:Ccar1	UTSW	10	62753218	missense	unknown
R5000:Ccar1	UTSW	10	62751005	missense	unknown
R5207:Ccar1	UTSW	10	62753281	missense	unknown
R5214:Ccar1	UTSW	10	62770961	missense	probably damaging	1.00
R5644:Ccar1	UTSW	10	62771978	missense	probably benign	0.16
R6035:Ccar1	UTSW	10	62751785	missense	unknown
R6035:Ccar1	UTSW	10	62751785	missense	unknown
R6063:Ccar1	UTSW	10	62776717	missense	possibly damaging	0.70
R6330:Ccar1	UTSW	10	62764533	missense	probably damaging	1.00
R6370:Ccar1	UTSW	10	62764529	missense	probably damaging	1.00
R6828:Ccar1	UTSW	10	62764430	missense	probably damaging	0.98
R6943:Ccar1	UTSW	10	62746936	missense	unknown
R8054:Ccar1	UTSW	10	62747436	missense	unknown
R8089:Ccar1	UTSW	10	62790991	start codon destroyed	probably null	0.33
R8202:Ccar1	UTSW	10	62771989	missense	possibly damaging	0.94
R8544:Ccar1	UTSW	10	62750579	missense	unknown
R8730:Ccar1	UTSW	10	62765412	missense	probably damaging	1.00
R9182:Ccar1	UTSW	10	62785568	missense	probably damaging	0.98
R9645:Ccar1	UTSW	10	62766590	missense	probably benign	0.09
V8831:Ccar1	UTSW	10	62747406	missense	unknown
X0017:Ccar1	UTSW	10	62765340	missense	probably damaging	1.00

Posted On

2014-05-07