Mutagenetix > Incidental Mutations

Incidental Mutation 'R0440:Ccar1'

46699

Institutional Source

Beutler Lab

Gene Symbol

Ccar1

Ensembl Gene

ENSMUSG00000020074

Gene Name

cell division cycle and apoptosis regulator 1

Synonyms

9430036H15Rik, Carp1, 2610511G16Rik

MMRRC Submission

038641-MU

Accession Numbers

Genbank: NM_026201.3; Ensembl: ENSMUST00000020268

Is this an essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R0440 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

62743928-62792286 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62780457 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 165 (V165I)

Ref Sequence

ENSEMBL: ENSMUSP00000151895 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020268
AA Change: V165I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: V165I

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: V165I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217940

Predicted Effect

probably benign
Transcript: ENSMUST00000218229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218355

Predicted Effect

probably benign
Transcript: ENSMUST00000218946

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219527
AA Change: V165I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1331

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

99% (68/69)

Allele List at MGI

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

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,228,493	R30W	probably damaging	Het
Adam7	T	C	14: 68,510,856		probably null	Het
Agl	A	T	3: 116,758,806	L1158Q	probably damaging	Het
Akap9	T	C	5: 4,064,569	S66P	probably damaging	Het
Akr1c20	T	A	13: 4,487,208	D316V	probably benign	Het
App	C	A	16: 85,056,414	E259*	probably null	Het
Arhgef4	A	G	1: 34,745,448		probably null	Het
Armc9	G	A	1: 86,194,262		probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Btaf1	C	T	19: 36,986,653	P875S	probably damaging	Het
Cc2d1b	T	A	4: 108,625,816		probably null	Het
Ccdc106	A	T	7: 5,060,245	I250F	probably damaging	Het
Ccny	T	C	18: 9,332,917	I205V	probably benign	Het
Cfap52	T	A	11: 67,954,088	I52L	probably benign	Het
Chd8	T	A	14: 52,204,826	T2096S	possibly damaging	Het
Clstn3	G	A	6: 124,451,413	T423I	probably damaging	Het
Col13a1	T	C	10: 61,867,483	D440G	possibly damaging	Het
Dclk3	G	A	9: 111,469,163	V592M	probably damaging	Het
Ddx31	A	T	2: 28,857,132	I208F	probably damaging	Het
Dlat	A	T	9: 50,645,119		probably null	Het
Eml4	T	C	17: 83,446,058		probably null	Het
Enpp2	T	A	15: 54,847,237		probably benign	Het
Fryl	T	C	5: 73,086,972	S38G	possibly damaging	Het
Gcnt1	G	A	19: 17,330,316	T15I	probably benign	Het
Gm21834	T	C	17: 57,742,126	T32A	possibly damaging	Het
Golga2	A	G	2: 32,302,933	D394G	probably damaging	Het
Gtf3c4	G	T	2: 28,840,169		probably null	Het
Igkv4-69	A	G	6: 69,284,269		probably benign	Het
Inpp5j	T	C	11: 3,501,150	R500G	possibly damaging	Het
Kif5b	A	T	18: 6,226,980		probably benign	Het
Klhl36	A	G	8: 119,876,551	E515G	probably damaging	Het
Lifr	C	T	15: 7,157,191	R59*	probably null	Het
Lrif1	A	T	3: 106,734,398	Q10L	possibly damaging	Het
Lrp8	A	G	4: 107,869,098	E908G	probably damaging	Het
Lrrc23	A	T	6: 124,770,704	D307E	probably benign	Het
Mpv17l	T	C	16: 13,944,719	F27L	probably damaging	Het
Mta3	C	T	17: 83,766,587	A76V	probably damaging	Het
Muc5ac	T	A	7: 141,792,034	Y202*	probably null	Het
Naprt	A	G	15: 75,891,069		probably benign	Het
Npr2	T	A	4: 43,650,315	V960D	probably damaging	Het
Oca2	A	T	7: 56,423,352	Y765F	probably benign	Het
Olfr715	A	T	7: 107,128,732	H220Q	probably benign	Het
Plxna2	T	A	1: 194,644,404	Y215*	probably null	Het
Prdm16	G	A	4: 154,476,627		probably benign	Het
Ptn	A	G	6: 36,744,497	S3P	probably benign	Het
Pus10	T	C	11: 23,673,331		probably benign	Het
Rad21	A	T	15: 51,968,358	D442E	probably benign	Het
Rmdn2	A	G	17: 79,667,955	H291R	probably damaging	Het
Rp1	A	G	1: 4,345,640	S1750P	probably damaging	Het
Samd4b	A	T	7: 28,408,160	I228N	probably benign	Het
Sdr9c7	G	T	10: 127,898,953		probably benign	Het
Slc13a2	T	C	11: 78,403,175	N254D	probably benign	Het
Slc16a8	T	A	15: 79,252,607	I132F	probably damaging	Het
Slc18b1	T	A	10: 23,819,078	Y274N	probably benign	Het
Slc45a2	A	T	15: 11,000,817	M1L	probably benign	Het
Smc1b	A	G	15: 85,112,673		probably benign	Het
Stab2	T	C	10: 86,949,928	S617G	probably benign	Het
Stk10	A	G	11: 32,604,190	M626V	probably damaging	Het
Synpo2l	T	G	14: 20,661,398	I385L	possibly damaging	Het
Tmprss11d	T	C	5: 86,338,812	Y73C	probably damaging	Het
Ttc21b	A	G	2: 66,236,382	V309A	probably benign	Het
Tubgcp6	A	G	15: 89,103,065	I1235T	probably benign	Het
Usp8	A	G	2: 126,725,390	I110V	probably benign	Het
Vps13c	G	A	9: 67,972,861	G3442S	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp207	T	A	11: 80,395,507		probably benign	Het
Zfp748	A	C	13: 67,553,025		probably null	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	unclassified	probably null
IGL01777:Ccar1	APN	10	62780577	missense	possibly damaging	0.71
IGL01958:Ccar1	APN	10	62790935	missense	possibly damaging	0.94
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
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
V8831:Ccar1	UTSW	10	62747406	missense	unknown
X0017:Ccar1	UTSW	10	62765340	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCTGTCACCTAACTGACAAAACATT -3'
(R):5'- GCATTGCCCACAAGCCTTAGCC -3'

Sequencing Primer
(F):5'- aaaaccaactcccacctttaac -3'
(R):5'- ACAAGCCTTAGCCTGTCG -3'

Posted On

2013-06-11