Mutagenetix > Incidental Mutations

Incidental Mutation 'R2084:Card10'

230227

Institutional Source

Beutler Lab

Gene Symbol

Card10

Ensembl Gene

ENSMUSG00000033170

Gene Name

caspase recruitment domain family, member 10

Synonyms

Bimp1, CARMA3

MMRRC Submission

040089-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78775138-78803042 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78792971 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 412 (T412M)

Ref Sequence

ENSEMBL: ENSMUSP00000129513 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000071115

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164826
AA Change: T412M

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170
AA Change: T412M

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

possibly damaging
Transcript: ENSMUST00000170584
AA Change: T363M

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170
AA Change: T363M

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

0.1221

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	C	14: 8,558,171	D138G	probably damaging	Het
9530053A07Rik	G	A	7: 28,157,535	V2103M	probably damaging	Het
Ankrd36	C	T	11: 5,662,378	Q1237*	probably null	Het
Aph1c	T	G	9: 66,819,297	R258S	probably damaging	Het
Arfgap3	T	A	15: 83,334,566	N102I	probably damaging	Het
Astn1	T	C	1: 158,472,408	V106A	probably damaging	Het
BC005537	G	T	13: 24,812,715		probably null	Het
Cars	T	C	7: 143,587,182	I126M	probably benign	Het
Col11a1	C	T	3: 114,158,142	R1074C	probably damaging	Het
Cpped1	T	C	16: 11,828,501	D153G	probably damaging	Het
Cyp2j11	T	A	4: 96,339,201	I193F	probably damaging	Het
Dnm2	T	C	9: 21,500,371		probably null	Het
Efemp1	A	G	11: 28,915,763	D288G	probably damaging	Het
Espl1	T	C	15: 102,296,851		probably null	Het
Fcrl5	T	C	3: 87,444,230	F262L	probably benign	Het
Gh	G	A	11: 106,301,132	P84L	probably damaging	Het
Gm10267	T	C	18: 44,157,330	R37G	probably benign	Het
Gm13089	T	A	4: 143,699,350	T8S	probably damaging	Het
Hmgxb3	C	T	18: 61,155,023		probably benign	Het
Ifit2	T	C	19: 34,573,350	W97R	probably damaging	Het
Ift81	T	G	5: 122,567,347	K491Q	probably benign	Het
Ints8	A	G	4: 11,230,377	V488A	probably benign	Het
Krba1	T	A	6: 48,414,568	L797Q	probably damaging	Het
Krr1	T	C	10: 111,976,785	V100A	probably damaging	Het
Nav1	C	T	1: 135,607,420		probably benign	Het
Nos1	C	A	5: 117,943,245	Q1205K	probably damaging	Het
Nup85	A	T	11: 115,568,691	D125V	possibly damaging	Het
Olfr993	T	C	2: 85,414,615	E88G	probably benign	Het
Pclo	T	G	5: 14,682,148	S3555A	probably benign	Het
Pdzrn3	T	C	6: 101,154,295	I473V	probably benign	Het
Polr1a	A	G	6: 71,950,809	E848G	possibly damaging	Het
Pop1	T	C	15: 34,508,598		probably benign	Het
Prpf3	C	T	3: 95,848,989	E117K	probably benign	Het
Psmg3	C	T	5: 139,823,989	V101M	probably benign	Het
Rexo1	G	A	10: 80,561,266	S52L	probably benign	Het
Ryk	C	T	9: 102,875,772	T210M	probably damaging	Het
Sde2	A	G	1: 180,862,633	E306G	probably damaging	Het
Sec24c	A	G	14: 20,691,279	Q658R	probably benign	Het
Sgsm1	G	A	5: 113,285,400	T183I	probably damaging	Het
Skint7	T	A	4: 111,980,178	V51E	probably damaging	Het
Slc6a5	T	A	7: 49,948,254	M622K	probably benign	Het
Slco1a5	T	C	6: 142,234,711	H655R	probably benign	Het
Slco1c1	T	A	6: 141,559,852	Y452*	probably null	Het
Spn	T	C	7: 127,137,038	E99G	probably benign	Het
Ssc5d	A	G	7: 4,937,012	I789V	probably benign	Het
Taok2	G	A	7: 126,870,191	T1155I	probably benign	Het
Tet2	T	C	3: 133,487,767	Q302R	possibly damaging	Het
Trmt1l	A	G	1: 151,440,854	T189A	probably damaging	Het
Tubal3	T	C	13: 3,928,192	I36T	possibly damaging	Het
Vmn2r71	A	T	7: 85,618,737	Y133F	probably benign	Het
Vps11	G	T	9: 44,353,261	H673N	probably benign	Het
Zc3h12a	C	T	4: 125,120,009	S354N	probably benign	Het
Zfp2	A	G	11: 50,900,962	S85P	probably benign	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
R1862:Card10	UTSW	15	78780514	missense	probably damaging	1.00
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
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
Z1177:Card10	UTSW	15	78795328	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GCAATGCCAATCCTGCATCTTC -3'
(R):5'- TGTTGGCACTGTCAAACCCG -3'

Sequencing Primer
(F):5'- AATCCTGCATCTTCCTCCCC -3'
(R):5'- ACAGTGGTTGAGGGTATC -3'

Posted On

2014-09-18