Mutagenetix > Incidental Mutation

Incidental Mutation 'R9661:Card10'

727601

Institutional Source

Beutler Lab

Gene Symbol

Card10

Ensembl Gene

ENSMUSG00000033170

Gene Name

caspase recruitment domain family, member 10

Synonyms

Bimp1, CARMA3

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9661 (G1)

Quality Score

157.009

Status

Not validated

Chromosome

Chromosomal Location

78659338-78687242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78683318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 275 (R275H)

Ref Sequence

ENSEMBL: ENSMUSP00000129513 (fasta)

Gene Model

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

AlphaFold

P58660

Predicted Effect

probably damaging
Transcript: ENSMUST00000164826
AA Change: R275H

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

SMART Domains

Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170
AA Change: R275H

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: R226H

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

SMART Domains

Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170
AA Change: R226H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,451 (GRCm39)	H445Q	possibly damaging	Het
Aadacl4	C	A	4: 144,340,287 (GRCm39)	P4Q	probably damaging	Het
Adgre1	A	G	17: 57,748,368 (GRCm39)	T523A	possibly damaging	Het
Arhgap32	A	G	9: 32,168,531 (GRCm39)	E838G	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Cdh16	A	G	8: 105,345,612 (GRCm39)	V327A	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cttnbp2	T	A	6: 18,429,151 (GRCm39)	Q159L		Het
D630003M21Rik	A	G	2: 158,047,673 (GRCm39)	L732P	possibly damaging	Het
Dgcr8	T	C	16: 18,098,579 (GRCm39)	I308V	possibly damaging	Het
Dhx9	A	G	1: 153,340,393 (GRCm39)	F702L	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Eea1	T	C	10: 95,862,742 (GRCm39)	L888S	probably benign	Het
Elmo1	T	C	13: 20,469,531 (GRCm39)		probably null	Het
Fam186a	T	A	15: 99,842,492 (GRCm39)	I1251F	possibly damaging	Het
Fer1l4	G	A	2: 155,862,336 (GRCm39)	A1779V	probably damaging	Het
Fgfrl1	C	T	5: 108,853,841 (GRCm39)	T407I	probably benign	Het
Gkn1	T	C	6: 87,325,173 (GRCm39)	K79E	probably damaging	Het
Gm11564	C	T	11: 99,706,247 (GRCm39)	R61H	unknown	Het
Gpr107	T	C	2: 31,057,075 (GRCm39)	F56L	probably benign	Het
H2-T22	T	C	17: 36,353,371 (GRCm39)		probably benign	Het
Hs1bp3	T	C	12: 8,367,940 (GRCm39)	V63A	probably damaging	Het
Htr6	A	G	4: 138,801,963 (GRCm39)	I37T	probably damaging	Het
Kifc5b	T	C	17: 27,140,836 (GRCm39)		probably null	Het
Lrfn2	T	C	17: 49,403,650 (GRCm39)	I591T	probably benign	Het
Lrrc49	A	T	9: 60,573,582 (GRCm39)	I300N	probably damaging	Het
Lyst	A	G	13: 13,808,779 (GRCm39)	T150A	probably benign	Het
Myh11	T	C	16: 14,041,857 (GRCm39)	Q722R		Het
Nek9	T	C	12: 85,361,253 (GRCm39)	Q484R	possibly damaging	Het
Nfs1	A	T	2: 155,970,473 (GRCm39)	V280E	probably damaging	Het
Notch3	T	A	17: 32,373,792 (GRCm39)	D472V	probably damaging	Het
Nt5c1b	T	C	12: 10,425,450 (GRCm39)	V273A	probably damaging	Het
Nudt12	T	C	17: 59,316,981 (GRCm39)	D222G	probably benign	Het
Nup98	G	A	7: 101,782,019 (GRCm39)	Q1204*	probably null	Het
Nwd2	A	T	5: 63,957,780 (GRCm39)	Y370F	probably damaging	Het
Oas3	A	T	5: 120,904,230 (GRCm39)	I548N	unknown	Het
Ogfr	A	T	2: 180,233,431 (GRCm39)	N78Y	probably damaging	Het
Or10ak11	A	T	4: 118,687,526 (GRCm39)	L36Q	probably benign	Het
Prkcq	A	T	2: 11,250,141 (GRCm39)	K153*	probably null	Het
Ptpdc1	T	A	13: 48,739,610 (GRCm39)	N607I	probably benign	Het
Rab5c	G	T	11: 100,606,917 (GRCm39)	Q221K	probably benign	Het
Ret	G	A	6: 118,150,437 (GRCm39)	T693I	probably benign	Het
Rnf20	A	G	4: 49,654,556 (GRCm39)	E871G	probably damaging	Het
Rtl1	G	T	12: 109,557,346 (GRCm39)	P1498T	possibly damaging	Het
Septin9	C	G	11: 117,245,751 (GRCm39)	R458G	possibly damaging	Het
Sh2d2a	T	C	3: 87,756,788 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc16a4	T	A	3: 107,213,359 (GRCm39)	D451E	probably benign	Het
Slc36a3	A	G	11: 55,015,984 (GRCm39)	F390S	probably benign	Het
Slc4a2	T	A	5: 24,640,005 (GRCm39)	M576K	probably damaging	Het
Smim14	T	C	5: 65,610,533 (GRCm39)	H88R	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Sspo	C	T	6: 48,455,272 (GRCm39)	Q3045*	probably null	Het
Supt7l	C	A	5: 31,680,403 (GRCm39)	R3M	probably damaging	Het
Tjap1	A	G	17: 46,571,092 (GRCm39)	W132R	probably damaging	Het
Tmem26	T	A	10: 68,559,838 (GRCm39)	W37R	probably damaging	Het
Tut7	T	C	13: 59,937,332 (GRCm39)	D1155G	probably damaging	Het
Vmn1r119	C	T	7: 20,746,224 (GRCm39)	V53M	possibly damaging	Het
Vmn2r54	A	T	7: 12,349,166 (GRCm39)	N805K	probably benign	Het
Zfp638	T	C	6: 83,923,320 (GRCm39)	V706A	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
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
Z1177:Card10	UTSW	15	78,679,528 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GAACGGCCAGGAGCTTTGTG -3'
(R):5'- AGCCAATTGCACCGAGAGC -3'

Sequencing Primer
(F):5'- AGCTTTGTGGGGGTGTCTCC -3'
(R):5'- TTGCACCGAGAGCAGCAAC -3'

Posted On

2022-10-06