Mutagenetix > Incidental Mutation

Incidental Mutation 'R1295:Ccar1'

158074

Institutional Source

Beutler Lab

Gene Symbol

Ccar1

Ensembl Gene

ENSMUSG00000020074

Gene Name

cell division cycle and apoptosis regulator 1

Synonyms

9430036H15Rik, 2610511G16Rik, Carp1

MMRRC Submission

039361-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R1295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62579707-62628065 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 62619661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151895 (fasta)

Gene Model

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

AlphaFold

Q8CH18

Predicted Effect

probably null
Transcript: ENSMUST00000020268

SMART Domains

Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074

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

probably null
Transcript: ENSMUST00000217768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217940

Predicted Effect

probably benign
Transcript: ENSMUST00000218229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218355

Predicted Effect

probably null
Transcript: ENSMUST00000218946

Predicted Effect

probably null
Transcript: ENSMUST00000219527

Meta Mutation Damage Score

0.9589

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

Allele List at MGI

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

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,737,783 (GRCm39)	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,421,888 (GRCm39)	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,298,624 (GRCm39)	T102M	probably damaging	Het
Akap6	A	C	12: 52,933,812 (GRCm39)	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,680,022 (GRCm39)		probably null	Het
Amfr	T	C	8: 94,701,432 (GRCm39)	R507G	probably benign	Het
Ap1m1	T	A	8: 73,005,719 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Col5a3	A	G	9: 20,719,714 (GRCm39)	F215S	unknown	Het
Decr1	T	C	4: 15,919,207 (GRCm39)	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,244,835 (GRCm39)	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752 (GRCm39)		probably benign	Het
Ehd3	C	A	17: 74,135,181 (GRCm39)	D352E	probably damaging	Het
Enpp6	T	G	8: 47,518,535 (GRCm39)	I221S	probably benign	Het
Fam186a	T	C	15: 99,837,670 (GRCm39)		probably benign	Het
Gm5435	G	T	12: 82,542,558 (GRCm39)		noncoding transcript	Het
Gpr22	A	C	12: 31,759,513 (GRCm39)	I203S	probably benign	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Gstcd	T	C	3: 132,711,389 (GRCm39)	N431D	probably damaging	Het
H1f5	T	C	13: 21,964,169 (GRCm39)	S186G	probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ift140	G	T	17: 25,307,907 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,197,963 (GRCm39)	V381A	probably benign	Het
Ing1	A	C	8: 11,611,501 (GRCm39)	I38L	probably benign	Het
Ing1	T	A	8: 11,611,502 (GRCm39)	I38N	probably damaging	Het
Itga4	A	G	2: 79,153,033 (GRCm39)	M907V	possibly damaging	Het
Kcnk12	C	T	17: 88,053,801 (GRCm39)	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,707,402 (GRCm39)	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nav3	T	A	10: 109,527,963 (GRCm39)	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,443,892 (GRCm39)	T9A	probably damaging	Het
Numb	C	A	12: 83,842,935 (GRCm39)		probably benign	Het
Prodh2	T	C	7: 30,193,514 (GRCm39)	V79A	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,247 (GRCm39)	Y604*	probably null	Het
Ros1	T	A	10: 51,964,028 (GRCm39)	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 118,867,408 (GRCm39)	F219L	probably benign	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,097,138 (GRCm39)	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,363,317 (GRCm39)	V50A	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Ttn	C	A	2: 76,573,589 (GRCm39)	R17441L	probably damaging	Het
Usp34	A	G	11: 23,334,477 (GRCm39)	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,445,694 (GRCm39)	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,225,008 (GRCm39)	A501T	probably benign	Het
Wapl	C	T	14: 34,446,726 (GRCm39)	P605S	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zfyve26	A	G	12: 79,321,694 (GRCm39)	L975P	probably damaging	Het
Zp3r	C	T	1: 130,519,181 (GRCm39)	G255D	probably damaging	Het

Other mutations in Ccar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Ccar1	APN	10	62,589,013 (GRCm39)	missense	unknown
IGL01291:Ccar1	APN	10	62,592,428 (GRCm39)	missense	probably damaging	1.00
IGL01364:Ccar1	APN	10	62,612,653 (GRCm39)	splice site	probably null
IGL01777:Ccar1	APN	10	62,616,356 (GRCm39)	missense	possibly damaging	0.71
IGL01958:Ccar1	APN	10	62,626,714 (GRCm39)	missense	possibly damaging	0.94
IGL03096:Ccar1	APN	10	62,600,112 (GRCm39)	missense	probably benign	0.20
Lonk	UTSW	10	62,600,312 (GRCm39)	missense	probably damaging	1.00
1mM(1):Ccar1	UTSW	10	62,619,665 (GRCm39)	missense	probably benign	0.00
ANU05:Ccar1	UTSW	10	62,592,428 (GRCm39)	missense	probably damaging	1.00
R0440:Ccar1	UTSW	10	62,616,236 (GRCm39)	missense	possibly damaging	0.94
R1573:Ccar1	UTSW	10	62,586,434 (GRCm39)	missense	unknown
R1585:Ccar1	UTSW	10	62,586,780 (GRCm39)	missense	unknown
R1633:Ccar1	UTSW	10	62,586,793 (GRCm39)	missense	unknown
R1840:Ccar1	UTSW	10	62,599,289 (GRCm39)	missense	probably damaging	0.98
R1854:Ccar1	UTSW	10	62,600,296 (GRCm39)	missense	probably damaging	1.00
R1905:Ccar1	UTSW	10	62,612,437 (GRCm39)	missense	possibly damaging	0.85
R2011:Ccar1	UTSW	10	62,612,473 (GRCm39)	missense	probably benign	0.03
R2041:Ccar1	UTSW	10	62,601,827 (GRCm39)	missense	probably damaging	1.00
R2202:Ccar1	UTSW	10	62,581,066 (GRCm39)	missense	unknown
R2327:Ccar1	UTSW	10	62,600,161 (GRCm39)	missense	probably damaging	1.00
R2932:Ccar1	UTSW	10	62,612,538 (GRCm39)	missense	probably benign	0.08
R3040:Ccar1	UTSW	10	62,592,273 (GRCm39)	missense	possibly damaging	0.83
R4647:Ccar1	UTSW	10	62,583,196 (GRCm39)	nonsense	probably null
R4829:Ccar1	UTSW	10	62,581,114 (GRCm39)	missense	unknown
R4887:Ccar1	UTSW	10	62,588,997 (GRCm39)	missense	unknown
R4888:Ccar1	UTSW	10	62,588,997 (GRCm39)	missense	unknown
R5000:Ccar1	UTSW	10	62,586,784 (GRCm39)	missense	unknown
R5207:Ccar1	UTSW	10	62,589,060 (GRCm39)	missense	unknown
R5214:Ccar1	UTSW	10	62,606,740 (GRCm39)	missense	probably damaging	1.00
R5644:Ccar1	UTSW	10	62,607,757 (GRCm39)	missense	probably benign	0.16
R6035:Ccar1	UTSW	10	62,587,564 (GRCm39)	missense	unknown
R6035:Ccar1	UTSW	10	62,587,564 (GRCm39)	missense	unknown
R6063:Ccar1	UTSW	10	62,612,496 (GRCm39)	missense	possibly damaging	0.70
R6330:Ccar1	UTSW	10	62,600,312 (GRCm39)	missense	probably damaging	1.00
R6370:Ccar1	UTSW	10	62,600,308 (GRCm39)	missense	probably damaging	1.00
R6828:Ccar1	UTSW	10	62,600,209 (GRCm39)	missense	probably damaging	0.98
R6943:Ccar1	UTSW	10	62,582,715 (GRCm39)	missense	unknown
R8054:Ccar1	UTSW	10	62,583,215 (GRCm39)	missense	unknown
R8089:Ccar1	UTSW	10	62,626,770 (GRCm39)	start codon destroyed	probably null	0.33
R8202:Ccar1	UTSW	10	62,607,768 (GRCm39)	missense	possibly damaging	0.94
R8544:Ccar1	UTSW	10	62,586,358 (GRCm39)	missense	unknown
R8730:Ccar1	UTSW	10	62,601,191 (GRCm39)	missense	probably damaging	1.00
R9182:Ccar1	UTSW	10	62,621,347 (GRCm39)	missense	probably damaging	0.98
R9645:Ccar1	UTSW	10	62,602,369 (GRCm39)	missense	probably benign	0.09
V8831:Ccar1	UTSW	10	62,583,185 (GRCm39)	missense	unknown
X0017:Ccar1	UTSW	10	62,601,119 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCTACATAGTGACTGTCCGGC -3'
(R):5'- ACAAAGCACCAGGTCTTTGTTCTGA -3'

Sequencing Primer
(F):5'- CCGGCGGTGAGGGAAAC -3'
(R):5'- GTACACTACTTTGAGAATG -3'

Posted On

2014-02-18