Mutagenetix > Incidental Mutation

Incidental Mutation 'R6089:Card10'

484684

Institutional Source

Beutler Lab

Gene Symbol

Card10

Ensembl Gene

ENSMUSG00000033170

Gene Name

caspase recruitment domain family, member 10

Synonyms

Bimp1, CARMA3

MMRRC Submission

044246-MU

Accession Numbers

Essential gene?

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

Stock #

R6089 (G1)

Quality Score

179.009

Status

Not validated

Chromosome

Chromosomal Location

78659338-78687242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78686614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 68 (T68A)

Ref Sequence

ENSEMBL: ENSMUSP00000131003 (fasta)

Gene Model

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

AlphaFold

P58660

Predicted Effect

probably benign
Transcript: ENSMUST00000164826
AA Change: T117A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170
AA Change: T117A

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
AA Change: T68A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170
AA Change: T68A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	G	1: 125,335,132 (GRCm39)	V95A	probably damaging	Het
Ankrd40	A	T	11: 94,224,751 (GRCm39)	K53N	probably damaging	Het
Ash1l	C	T	3: 88,960,450 (GRCm39)	Q2338*	probably null	Het
Astn2	A	G	4: 65,712,810 (GRCm39)	F610S	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 127,950,511 (GRCm39)		probably benign	Het
Btbd8	C	T	5: 107,654,895 (GRCm39)	A386V	probably damaging	Het
Calm4	A	T	13: 3,887,874 (GRCm39)		probably benign	Het
Cars2	A	G	8: 11,580,301 (GRCm39)	M245T	probably damaging	Het
Cat	C	A	2: 103,303,296 (GRCm39)	L160F	probably null	Het
Cers5	G	T	15: 99,638,883 (GRCm39)	T144K	probably benign	Het
Cyp3a13	T	A	5: 137,908,215 (GRCm39)	L211F	probably benign	Het
Defb4	A	T	8: 19,251,321 (GRCm39)	R63*	probably null	Het
Dnah14	G	T	1: 181,577,719 (GRCm39)	W3012L	probably damaging	Het
Dusp18	A	G	11: 3,847,555 (GRCm39)	T182A	probably benign	Het
Dzip1l	C	A	9: 99,524,737 (GRCm39)	T286K	possibly damaging	Het
Eif2ak3	A	T	6: 70,873,918 (GRCm39)	T944S	possibly damaging	Het
Fbn1	A	T	2: 125,163,145 (GRCm39)	I2119N	possibly damaging	Het
Gabbr2	A	G	4: 46,846,448 (GRCm39)	S154P	probably damaging	Het
Gm15440	A	T	13: 51,845,437 (GRCm39)	H107Q	unknown	Het
Grm2	G	A	9: 106,531,090 (GRCm39)	P133L	probably damaging	Het
Gsdme	A	G	6: 50,228,285 (GRCm39)	V61A	probably damaging	Het
Gtpbp1	A	G	15: 79,591,198 (GRCm39)	T23A	probably benign	Het
Helz	A	T	11: 107,485,963 (GRCm39)		probably null	Het
Herc1	A	C	9: 66,352,814 (GRCm39)	H2100P	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ifngr1	T	C	10: 19,482,048 (GRCm39)	S213P	probably benign	Het
Itgb7	T	C	15: 102,125,721 (GRCm39)	D636G	probably benign	Het
Mre11a	G	A	9: 14,730,760 (GRCm39)	D491N	probably benign	Het
Muc16	A	G	9: 18,554,548 (GRCm39)	L3915P	unknown	Het
Myh1	T	A	11: 67,092,993 (GRCm39)		probably null	Het
Myh1	T	G	11: 67,111,613 (GRCm39)		probably null	Het
Myh7b	C	T	2: 155,464,409 (GRCm39)	T608M	probably damaging	Het
Myof	T	C	19: 37,955,508 (GRCm39)	K23E	probably benign	Het
Nacad	A	G	11: 6,551,331 (GRCm39)	V620A	probably benign	Het
Pbrm1	T	C	14: 30,809,542 (GRCm39)	Y1121H	probably damaging	Het
Pcdha9	T	C	18: 37,131,551 (GRCm39)	F207L	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Pigg	A	T	5: 108,489,788 (GRCm39)	M798L	probably benign	Het
Poc5	G	T	13: 96,533,179 (GRCm39)	M102I	probably damaging	Het
Ppp2r3d	T	A	9: 101,088,835 (GRCm39)	Q496L	probably benign	Het
Ptprf	A	G	4: 118,068,281 (GRCm39)	Y1752H	probably damaging	Het
Ptpru	G	C	4: 131,499,941 (GRCm39)	S1244R	possibly damaging	Het
Rnf213	A	G	11: 119,307,385 (GRCm39)	K682E	probably benign	Het
Rtp3	T	C	9: 110,816,041 (GRCm39)	D170G	probably benign	Het
Sall4	T	C	2: 168,597,406 (GRCm39)	D478G	possibly damaging	Het
Scai	A	T	2: 38,973,566 (GRCm39)	Y58*	probably null	Het
Simc1	G	A	13: 54,676,303 (GRCm39)	V1007M	probably benign	Het
Tcf20	G	T	15: 82,737,409 (GRCm39)	D1347E	probably benign	Het
Tdo2	T	C	3: 81,870,035 (GRCm39)	Y279C	probably damaging	Het
Trdn	C	T	10: 33,340,571 (GRCm39)	P602S	probably benign	Het
Txndc5	A	T	13: 38,707,392 (GRCm39)	M1K	probably null	Het
Ubr2	A	C	17: 47,293,218 (GRCm39)	M356R	possibly damaging	Het
Uqcrc2	A	T	7: 120,253,232 (GRCm39)	D332V	probably damaging	Het
Usp48	T	C	4: 137,333,129 (GRCm39)	F108L	probably damaging	Het
Vill	A	G	9: 118,886,867 (GRCm39)	N4S	probably benign	Het
Vmn1r11	T	C	6: 57,114,645 (GRCm39)	V103A	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,336 (GRCm39)	D278G	probably benign	Het
Vps35l	T	G	7: 118,345,658 (GRCm39)	S59A	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,586 (GRCm39)	L79*	probably null	Het
Xxylt1	C	T	16: 30,899,799 (GRCm39)	V119M	probably damaging	Het
Zfp26	G	T	9: 20,348,989 (GRCm39)	A525D	probably damaging	Het
Zgrf1	G	A	3: 127,389,642 (GRCm39)	G396D	probably damaging	Het
Zkscan16	A	G	4: 58,948,889 (GRCm39)	D148G	possibly damaging	Het
Zscan26	G	T	13: 21,632,499 (GRCm39)	S77R	probably 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
R1444:Card10	UTSW	15	78,672,041 (GRCm39)	splice site	probably benign
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
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'- TGATTCTTTAAGGGATACACAAATGGG -3'
(R):5'- TTGGGATCCCGGGAAGACG -3'

Sequencing Primer
(F):5'- TTAAGGGATACACAAATGGGACAGAG -3'
(R):5'- GTGCCCACCGTGCTTGTC -3'

Posted On

2017-08-16