Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Card10'

204066

Institutional Source

Beutler Lab

Gene Symbol

Card10

Ensembl Gene

ENSMUSG00000033170

Gene Name

caspase recruitment domain family, member 10

Synonyms

Bimp1, CARMA3

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78775138-78803042 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78780514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 747 (R747W)

Ref Sequence

ENSEMBL: ENSMUSP00000131003 (fasta)

Gene Model

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

AlphaFold

P58660

Predicted Effect

probably damaging
Transcript: ENSMUST00000164826
AA Change: R796W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170
AA Change: R796W

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 damaging
Transcript: ENSMUST00000170584
AA Change: R747W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170
AA Change: R747W

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

0.2371

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416	E565D	probably benign	Het
Adam30	A	T	3: 98,162,113	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,749,852		probably null	Het
Cacna1a	A	T	8: 84,415,930	I96F	possibly damaging	Het
Cdh8	T	A	8: 99,190,394	D363V	probably damaging	Het
Cecr2	T	C	6: 120,757,941	Y685H	probably damaging	Het
Cmklr1	T	C	5: 113,614,407	T178A	probably damaging	Het
Col16a1	G	A	4: 130,092,782		probably null	Het
Col4a1	C	T	8: 11,226,439		probably benign	Het
Coro2a	T	A	4: 46,548,797	I166F	possibly damaging	Het
Cry2	T	C	2: 92,424,566	H148R	probably damaging	Het
Crygd	T	C	1: 65,061,974	Y154C	probably benign	Het
Cubn	T	C	2: 13,308,561	Y3066C	probably damaging	Het
Defb15	C	T	8: 21,929,986	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,697,398	D147G	probably benign	Het
Dnah12	A	T	14: 26,709,257	Y340F	probably benign	Het
Dot1l	G	T	10: 80,783,539	R193L	probably damaging	Het
Dupd1	A	G	14: 21,686,689	V115A	probably benign	Het
Esd	A	C	14: 74,742,074	Y119S	probably damaging	Het
Esp36	A	G	17: 38,419,439		probably benign	Het
Etfbkmt	T	A	6: 149,144,151	M1K	probably null	Het
Exph5	A	G	9: 53,376,248	H1543R	probably benign	Het
Fam92a	C	T	4: 12,155,717	V306I	possibly damaging	Het
Fbxo16	A	G	14: 65,270,803	T23A	probably damaging	Het
Gm11492	A	G	11: 87,567,235	H145R	possibly damaging	Het
Gm6614	T	C	6: 142,003,423	M76V	possibly damaging	Het
Gorasp2	C	A	2: 70,679,464	H136Q	probably damaging	Het
Hdc	T	A	2: 126,597,933	I367F	probably benign	Het
Hmcn1	C	T	1: 150,638,900	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,584,124	D592G	probably benign	Het
Inmt	G	A	6: 55,174,883	A34V	probably damaging	Het
Ints9	A	C	14: 65,026,413	H378P	probably benign	Het
Kcnh7	T	A	2: 62,787,754	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,425,330	V259D	probably damaging	Het
Lipo1	A	G	19: 33,784,692	F135S	probably damaging	Het
Lrba	T	C	3: 86,773,203		probably null	Het
Mapk1	T	A	16: 17,026,429	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,444,921	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,459,969	P554L	probably damaging	Het
Mki67	T	C	7: 135,699,361	T1315A	probably benign	Het
Mprip	C	T	11: 59,758,221	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,185,988	I688F	probably benign	Het
Myo1d	A	T	11: 80,663,048	Y536N	probably damaging	Het
Neb	C	T	2: 52,162,187		probably null	Het
Noc2l	A	G	4: 156,237,708	R161G	probably benign	Het
Nup54	T	A	5: 92,419,567	I375L	possibly damaging	Het
Nup93	T	C	8: 94,306,102	F539L	probably damaging	Het
Olfr138	A	G	17: 38,275,344	E191G	probably damaging	Het
Olfr417	T	A	1: 174,369,452	H178Q	probably damaging	Het
Olfr480	A	C	7: 108,066,725	Y24*	probably null	Het
Olfr874	T	A	9: 37,746,968	M278K	probably benign	Het
Panx1	A	T	9: 15,007,428	D378E	probably damaging	Het
Papss1	T	A	3: 131,583,184	V170D	possibly damaging	Het
Pcnx	T	C	12: 81,918,732	S558P	probably damaging	Het
Pde3a	T	A	6: 141,250,353	I255N	probably damaging	Het
Pde3a	G	T	6: 141,487,513	A757S	probably damaging	Het
Pdzph1	A	G	17: 58,922,583	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,551,020	R805S	probably benign	Het
Polr1a	G	A	6: 71,909,203	G14D	probably damaging	Het
Prg4	T	A	1: 150,460,669	D60V	probably damaging	Het
Ptprc	T	C	1: 138,112,227	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,842,209	R205K	probably benign	Het
Rcan2	A	T	17: 44,037,089		probably null	Het
Rock1	A	G	18: 10,079,207	I1087T	probably damaging	Het
Sectm1b	A	G	11: 121,054,942	I191T	possibly damaging	Het
Setd1b	T	C	5: 123,147,613	S241P	unknown	Het
Srpk2	T	C	5: 23,524,150	K497R	probably benign	Het
Sspo	T	C	6: 48,491,006	S4296P	probably damaging	Het
Syne4	T	C	7: 30,316,883	V168A	probably benign	Het
Tank	T	C	2: 61,649,912	F264S	probably damaging	Het
Ticrr	T	C	7: 79,695,207	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,411,198	V457A	probably damaging	Het
Trim43b	T	A	9: 89,085,571	K336N	probably damaging	Het
Trim47	T	C	11: 116,106,137	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,023	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607	S231P	probably benign	Het
Vit	A	G	17: 78,622,746	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 10,173,406	C131Y	possibly damaging	Het
Zadh2	T	C	18: 84,095,318	V373A	possibly damaging	Het
Zfp58	A	T	13: 67,491,188	F395I	probably damaging	Het
Zfp940	C	A	7: 29,845,010	G491C	probably damaging	Het

Other mutations in Card10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02061:Card10	APN	15	78778215	missense	probably damaging	1.00
IGL02804:Card10	APN	15	78802449	missense	probably damaging	1.00
PIT4366001:Card10	UTSW	15	78787431	missense	probably benign	0.14
R0529:Card10	UTSW	15	78780475	critical splice donor site	probably null
R0571:Card10	UTSW	15	78787401	missense	possibly damaging	0.88
R1118:Card10	UTSW	15	78802443	missense	possibly damaging	0.90
R1444:Card10	UTSW	15	78787841	splice site	probably benign
R1632:Card10	UTSW	15	78791220	nonsense	probably null
R1669:Card10	UTSW	15	78793953	missense	probably benign	0.20
R1863:Card10	UTSW	15	78780514	missense	probably damaging	1.00
R1997:Card10	UTSW	15	78793975	missense	probably damaging	0.99
R2046:Card10	UTSW	15	78787473	missense	possibly damaging	0.91
R2084:Card10	UTSW	15	78792971	missense	possibly damaging	0.81
R2509:Card10	UTSW	15	78780273	missense	probably benign	0.00
R2511:Card10	UTSW	15	78780273	missense	probably benign	0.00
R4274:Card10	UTSW	15	78780514	missense	probably damaging	1.00
R4887:Card10	UTSW	15	78781524	missense	possibly damaging	0.66
R4970:Card10	UTSW	15	78802380	critical splice donor site	probably null
R5098:Card10	UTSW	15	78776717	missense	probably benign	0.37
R5112:Card10	UTSW	15	78802380	critical splice donor site	probably null
R5243:Card10	UTSW	15	78780672	missense	possibly damaging	0.70
R5256:Card10	UTSW	15	78778251	missense	probably damaging	0.98
R5985:Card10	UTSW	15	78791211	missense	probably benign	0.01
R6089:Card10	UTSW	15	78802414	missense	probably benign	0.02
R6357:Card10	UTSW	15	78799379	missense	probably damaging	1.00
R6545:Card10	UTSW	15	78776810	missense	probably damaging	1.00
R6865:Card10	UTSW	15	78802622	missense	possibly damaging	0.70
R6907:Card10	UTSW	15	78787471	missense	possibly damaging	0.82
R6920:Card10	UTSW	15	78802409	nonsense	probably null
R7913:Card10	UTSW	15	78781103	missense	possibly damaging	0.63
R8258:Card10	UTSW	15	78776684	missense	probably damaging	1.00
R8259:Card10	UTSW	15	78776684	missense	probably damaging	1.00
R9246:Card10	UTSW	15	78788836	missense	possibly damaging	0.95
R9661:Card10	UTSW	15	78799118	missense	probably damaging	1.00
Z1177:Card10	UTSW	15	78795328	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- AAGGTTGGGTCACACATGG -3'
(R):5'- AGCCTGTCATTCCTTCCATGAG -3'

Sequencing Primer
(F):5'- TGGTACAAGAAAAGCAAGCCTC -3'
(R):5'- TTCCATGAGGCCCTGGATG -3'

Posted On

2014-06-23