Mutagenetix > Incidental Mutation

Incidental Mutation 'R1444:Card10'

158733

Institutional Source

Beutler Lab

Gene Symbol

Card10

Ensembl Gene

ENSMUSG00000033170

Gene Name

caspase recruitment domain family, member 10

Synonyms

Bimp1, CARMA3

MMRRC Submission

039499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78659338-78687242 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 78672041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164826] [ENSMUST00000170584]

AlphaFold

P58660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000071115

Predicted Effect

probably benign
Transcript: ENSMUST00000164826

SMART Domains

Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	54	75	N/A	INTRINSIC
Pfam:CARD	77	163	1.1e-22	PFAM
coiled coil region	188	498	N/A	INTRINSIC
low complexity region	508	523	N/A	INTRINSIC
low complexity region	607	614	N/A	INTRINSIC
low complexity region	692	706	N/A	INTRINSIC
PDB:3SHW\|A	744	1055	1e-7	PDB
Blast:SH3	747	812	8e-8	BLAST
Blast:GuKc	883	1045	1e-19	BLAST
low complexity region	1057	1068	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170584

SMART Domains

Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:CARD	28	114	5.6e-23	PFAM
coiled coil region	139	449	N/A	INTRINSIC
low complexity region	459	474	N/A	INTRINSIC
low complexity region	558	565	N/A	INTRINSIC
low complexity region	643	657	N/A	INTRINSIC
PDB:3SHW\|A	695	1006	1e-7	PDB
Blast:SH3	698	763	7e-8	BLAST
Blast:GuKc	834	996	1e-19	BLAST
low complexity region	1008	1019	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit partial penetrance of anencephaly and subsequent perinatal lethality of anencephalic embryos. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 73,205,230 (GRCm39)	D347V	probably damaging	Het
A630010A05Rik	T	A	16: 14,427,558 (GRCm39)	F82I	possibly damaging	Het
Acad9	T	A	3: 36,132,657 (GRCm39)	F297L	possibly damaging	Het
Adgrl3	A	T	5: 81,660,200 (GRCm39)	Y323F	probably damaging	Het
Brca2	T	A	5: 150,465,915 (GRCm39)	M1893K	probably benign	Het
Cactin	A	T	10: 81,158,270 (GRCm39)		probably null	Het
Cadm4	A	G	7: 24,203,046 (GRCm39)	*389W	probably null	Het
Calr4	A	G	4: 109,103,438 (GRCm39)	T183A	possibly damaging	Het
Cdh6	C	A	15: 13,091,924 (GRCm39)	G14C	probably benign	Het
Cds1	A	G	5: 101,946,245 (GRCm39)	Y148C	probably damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Cr1l	A	T	1: 194,813,510 (GRCm39)	L35Q	probably damaging	Het
Daam2	T	C	17: 49,787,779 (GRCm39)	R445G	possibly damaging	Het
Ddn	G	A	15: 98,704,485 (GRCm39)	T269M	probably damaging	Het
Epb41	G	A	4: 131,733,382 (GRCm39)	S176L	probably benign	Het
Ephx2	T	C	14: 66,344,769 (GRCm39)	D167G	probably damaging	Het
Erbb4	G	A	1: 68,293,759 (GRCm39)	R711C	probably damaging	Het
Flg2	T	A	3: 93,109,620 (GRCm39)	H549Q	unknown	Het
Gje1	A	G	10: 14,592,380 (GRCm39)		probably null	Het
Heatr5b	G	A	17: 79,060,622 (GRCm39)	H2018Y	probably benign	Het
Heatr5b	A	T	17: 79,062,856 (GRCm39)		probably benign	Het
Hectd3	G	T	4: 116,853,593 (GRCm39)	R189L	probably benign	Het
Hsd3b6	T	C	3: 98,715,237 (GRCm39)	T52A	probably benign	Het
Il10rb	T	G	16: 91,218,675 (GRCm39)		probably null	Het
Kcnc2	T	C	10: 112,291,506 (GRCm39)		probably benign	Het
Lpl	T	A	8: 69,345,399 (GRCm39)	D134E	probably damaging	Het
Lrit1	T	C	14: 36,783,928 (GRCm39)	F419L	probably benign	Het
Mmp8	T	C	9: 7,567,264 (GRCm39)	C422R	probably benign	Het
Myo18b	A	G	5: 112,923,117 (GRCm39)		probably null	Het
Ncor1	T	A	11: 62,294,632 (GRCm39)	I280F	probably damaging	Het
Obox2	A	C	7: 15,130,957 (GRCm39)	Q63P	possibly damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or4d2b	T	A	11: 87,780,585 (GRCm39)	I46L	probably benign	Het
Phldb2	T	A	16: 45,577,616 (GRCm39)		probably benign	Het
Pkd1l1	A	G	11: 8,804,386 (GRCm39)	F1735S	probably damaging	Het
Pramel11	G	T	4: 143,623,461 (GRCm39)	L238I	probably benign	Het
Prss30	T	C	17: 24,192,712 (GRCm39)	Y156C	probably damaging	Het
Rnf213	T	C	11: 119,333,226 (GRCm39)	S2812P	probably damaging	Het
Rttn	A	G	18: 89,060,991 (GRCm39)	D1053G	probably benign	Het
Slc6a2	A	G	8: 93,697,882 (GRCm39)	N120S	probably damaging	Het
Snrnp200	T	C	2: 127,070,158 (GRCm39)		probably benign	Het
Spindoc	G	T	19: 7,360,086 (GRCm39)	D27E	probably benign	Het
Svep1	T	C	4: 58,115,754 (GRCm39)	T980A	possibly damaging	Het
Tgfbr1	A	G	4: 47,393,259 (GRCm39)	E46G	probably benign	Het
Tmem183a	T	C	1: 134,289,284 (GRCm39)	I49V	probably benign	Het
Tmem212	C	T	3: 27,939,244 (GRCm39)	V81I	possibly damaging	Het
Toporsl	T	A	4: 52,610,254 (GRCm39)	I49N	probably benign	Het
Trim67	A	G	8: 125,549,932 (GRCm39)	T521A	probably benign	Het
Vsnl1	T	C	12: 11,382,219 (GRCm39)		probably null	Het
Wdr87-ps	T	C	7: 29,229,380 (GRCm39)		noncoding transcript	Het
Xrn2	C	T	2: 146,903,408 (GRCm39)	R803W	probably damaging	Het
Zfp131	A	T	13: 120,251,784 (GRCm39)	C9S	probably damaging	Het
Zfp750	C	T	11: 121,402,873 (GRCm39)	S625N	probably damaging	Het
Zfp871	G	T	17: 32,993,900 (GRCm39)	T406N	possibly damaging	Het

Other mutations in Card10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02061:Card10	APN	15	78,662,415 (GRCm39)	missense	probably damaging	1.00
IGL02804:Card10	APN	15	78,686,649 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Card10	UTSW	15	78,671,631 (GRCm39)	missense	probably benign	0.14
R0529:Card10	UTSW	15	78,664,675 (GRCm39)	critical splice donor site	probably null
R0571:Card10	UTSW	15	78,671,601 (GRCm39)	missense	possibly damaging	0.88
R1118:Card10	UTSW	15	78,686,643 (GRCm39)	missense	possibly damaging	0.90
R1632:Card10	UTSW	15	78,675,420 (GRCm39)	nonsense	probably null
R1669:Card10	UTSW	15	78,678,153 (GRCm39)	missense	probably benign	0.20
R1862:Card10	UTSW	15	78,664,714 (GRCm39)	missense	probably damaging	1.00
R1863:Card10	UTSW	15	78,664,714 (GRCm39)	missense	probably damaging	1.00
R1997:Card10	UTSW	15	78,678,175 (GRCm39)	missense	probably damaging	0.99
R2046:Card10	UTSW	15	78,671,673 (GRCm39)	missense	possibly damaging	0.91
R2084:Card10	UTSW	15	78,677,171 (GRCm39)	missense	possibly damaging	0.81
R2509:Card10	UTSW	15	78,664,473 (GRCm39)	missense	probably benign	0.00
R2511:Card10	UTSW	15	78,664,473 (GRCm39)	missense	probably benign	0.00
R4274:Card10	UTSW	15	78,664,714 (GRCm39)	missense	probably damaging	1.00
R4887:Card10	UTSW	15	78,665,724 (GRCm39)	missense	possibly damaging	0.66
R4970:Card10	UTSW	15	78,686,580 (GRCm39)	critical splice donor site	probably null
R5098:Card10	UTSW	15	78,660,917 (GRCm39)	missense	probably benign	0.37
R5112:Card10	UTSW	15	78,686,580 (GRCm39)	critical splice donor site	probably null
R5243:Card10	UTSW	15	78,664,872 (GRCm39)	missense	possibly damaging	0.70
R5256:Card10	UTSW	15	78,662,451 (GRCm39)	missense	probably damaging	0.98
R5985:Card10	UTSW	15	78,675,411 (GRCm39)	missense	probably benign	0.01
R6089:Card10	UTSW	15	78,686,614 (GRCm39)	missense	probably benign	0.02
R6357:Card10	UTSW	15	78,683,579 (GRCm39)	missense	probably damaging	1.00
R6545:Card10	UTSW	15	78,661,010 (GRCm39)	missense	probably damaging	1.00
R6865:Card10	UTSW	15	78,686,822 (GRCm39)	missense	possibly damaging	0.70
R6907:Card10	UTSW	15	78,671,671 (GRCm39)	missense	possibly damaging	0.82
R6920:Card10	UTSW	15	78,686,609 (GRCm39)	nonsense	probably null
R7913:Card10	UTSW	15	78,665,303 (GRCm39)	missense	possibly damaging	0.63
R8258:Card10	UTSW	15	78,660,884 (GRCm39)	missense	probably damaging	1.00
R8259:Card10	UTSW	15	78,660,884 (GRCm39)	missense	probably damaging	1.00
R9246:Card10	UTSW	15	78,673,036 (GRCm39)	missense	possibly damaging	0.95
R9661:Card10	UTSW	15	78,683,318 (GRCm39)	missense	probably damaging	1.00
Z1177:Card10	UTSW	15	78,679,528 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- AGAAGTCTCCCATACAGCTTCCAGG -3'
(R):5'- TTCCATGTGCAGGGTACGCAAG -3'

Sequencing Primer
(F):5'- CAAGGAACTCCCCAAAGTGA -3'
(R):5'- TGAAGTGACTTGCACTCACAG -3'

Posted On

2014-03-14