Mutagenetix > Incidental Mutation

Incidental Mutation 'R6622:Card14'

524554

Institutional Source

Beutler Lab

Gene Symbol

Card14

Ensembl Gene

ENSMUSG00000013483

Gene Name

caspase recruitment domain family, member 14

Synonyms

Bimp2, CARMA2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6622 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119307768-119345375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119333988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 614 (M614V)

Ref Sequence

ENSEMBL: ENSMUSP00000101857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053245] [ENSMUST00000106250]

AlphaFold

Q99KF0

Predicted Effect

probably benign
Transcript: ENSMUST00000053245
AA Change: M614V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053665
Gene: ENSMUSG00000013483
AA Change: M614V

Domain	Start	End	E-Value	Type
Pfam:CARD	20	106	4.1e-25	PFAM
coiled coil region	126	173	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC
low complexity region	262	275	N/A	INTRINSIC
coiled coil region	280	377	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	473	483	N/A	INTRINSIC
low complexity region	541	551	N/A	INTRINSIC
PDZ	578	657	5.51e-3	SMART
Blast:SH3	676	735	4e-25	BLAST
low complexity region	736	746	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
Blast:GuKc	826	989	4e-63	BLAST
SCOP:d1kjwa2	855	994	2e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106250
AA Change: M614V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101857
Gene: ENSMUSG00000013483
AA Change: M614V

Domain	Start	End	E-Value	Type
Pfam:CARD	20	106	2.8e-25	PFAM
coiled coil region	126	173	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC
low complexity region	262	275	N/A	INTRINSIC
coiled coil region	280	377	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	473	483	N/A	INTRINSIC
low complexity region	541	551	N/A	INTRINSIC
PDZ	578	657	5.51e-3	SMART
Blast:SH3	676	735	4e-25	BLAST
low complexity region	736	746	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
Blast:GuKc	826	989	4e-63	BLAST
SCOP:d1kjwa2	855	994	2e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151052

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,244,222	A2563D	probably damaging	Het
6030419C18Rik	A	G	9: 58,499,250	I148V	probably benign	Het
Adgrl3	A	C	5: 81,794,759	D1412A	probably benign	Het
Arhgap26	A	G	18: 38,899,863		probably benign	Het
Cbx2	A	G	11: 119,029,135	T509A	probably damaging	Het
Cep135	A	G	5: 76,640,968	D1136G	probably benign	Het
Cep170	T	A	1: 176,756,332	Q827L	probably damaging	Het
Clock	A	T	5: 76,241,954	I349K	probably damaging	Het
Cnppd1	A	T	1: 75,136,895	V243E	probably damaging	Het
Cops3	A	G	11: 59,833,134	F93L	probably damaging	Het
Cxxc5	T	G	18: 35,859,319	C258G	possibly damaging	Het
Cycs	G	A	6: 50,566,463		probably benign	Het
Cyp2c40	A	T	19: 39,802,546	H280Q	probably damaging	Het
Cyp4f14	C	T	17: 32,914,645	R79H	probably benign	Het
Dnajc27	A	G	12: 4,103,114	S197G	probably benign	Het
Dscam	C	T	16: 96,645,073	G1456E	probably benign	Het
Dst	G	A	1: 34,179,251	V1591I	probably benign	Het
Epha5	A	G	5: 84,237,528	S315P	possibly damaging	Het
Fam46a	G	T	9: 85,326,456	R105S	probably damaging	Het
Frmd4a	A	G	2: 4,606,062	T1012A	probably benign	Het
Fxr2	G	A	11: 69,641,590		probably null	Het
Gm12394	T	A	4: 42,793,111	L340F	probably damaging	Het
Hcn4	T	A	9: 58,857,727	V534E	unknown	Het
Hrh4	A	G	18: 13,022,397	Y331C	probably damaging	Het
Kif16b	T	A	2: 142,712,442	H812L	probably benign	Het
Krt14	T	A	11: 100,203,960	R451S	probably benign	Het
Man2b1	A	G	8: 85,084,479	T80A	probably damaging	Het
Nedd4l	A	G	18: 65,174,234	T383A	probably damaging	Het
Pcdha9	T	A	18: 36,998,654	L259M	possibly damaging	Het
Pdgfd	T	C	9: 6,293,818	C131R	probably damaging	Het
Prrc2a	C	G	17: 35,155,420	R1418P	probably damaging	Het
Ptpa	G	T	2: 30,437,577	E114D	probably damaging	Het
Ptprt	A	T	2: 161,553,840	C1157S	probably damaging	Het
Rnf126	A	T	10: 79,761,563		probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sel1l3	A	G	5: 53,139,860	V748A	probably damaging	Het
Serinc5	T	A	13: 92,688,686	S208T	probably benign	Het
Sftpb	A	G	6: 72,305,655	I74V	possibly damaging	Het
Slc22a14	A	C	9: 119,170,577	I516S	possibly damaging	Het
Slco2a1	G	A	9: 103,074,505	C411Y	possibly damaging	Het
Tet3	G	A	6: 83,403,444	P581S	probably benign	Het
Tmem231	T	C	8: 111,918,931	D112G	probably damaging	Het
Tnrc6b	T	A	15: 80,879,184	W296R	probably damaging	Het
Trpm1	T	A	7: 64,240,595	L982H	probably damaging	Het
Ttn	C	A	2: 76,720,518	R23183I	possibly damaging	Het
Tuft1	T	A	3: 94,635,419	Y46F	probably damaging	Het
Vmn1r167	T	A	7: 23,505,589	M1L	probably null	Het
Zfp808	A	G	13: 62,171,832	R292G	possibly damaging	Het
Zp2	T	C	7: 120,132,525	E669G	probably benign	Het
Zp2	C	T	7: 120,141,913	M129I	probably benign	Het

Other mutations in Card14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Card14	APN	11	119343145	missense	probably benign	0.10
IGL02070:Card14	APN	11	119344704	missense	probably damaging	1.00
IGL02632:Card14	APN	11	119338904	missense	probably benign	0.02
R0183:Card14	UTSW	11	119326698	missense	probably damaging	1.00
R0614:Card14	UTSW	11	119322827	missense	probably benign
R0766:Card14	UTSW	11	119324176	missense	probably damaging	1.00
R1033:Card14	UTSW	11	119338370	missense	probably damaging	1.00
R1705:Card14	UTSW	11	119338406	missense	possibly damaging	0.77
R1907:Card14	UTSW	11	119331259	missense	probably benign	0.00
R1992:Card14	UTSW	11	119321821	critical splice acceptor site	probably null
R3729:Card14	UTSW	11	119333932	missense	probably damaging	1.00
R4472:Card14	UTSW	11	119333958	missense	possibly damaging	0.77
R4578:Card14	UTSW	11	119326741	missense	probably benign	0.20
R4763:Card14	UTSW	11	119343175	missense	probably damaging	0.99
R5117:Card14	UTSW	11	119338250	missense	probably damaging	0.99
R5386:Card14	UTSW	11	119317289	missense	probably damaging	1.00
R6457:Card14	UTSW	11	119339602	nonsense	probably null
R6998:Card14	UTSW	11	119322899	missense	probably damaging	1.00
R7269:Card14	UTSW	11	119337747	missense	probably damaging	1.00
R7304:Card14	UTSW	11	119337747	missense	probably damaging	1.00
R7310:Card14	UTSW	11	119326179	missense	probably null	1.00
R7612:Card14	UTSW	11	119333579	missense	possibly damaging	0.52
R7689:Card14	UTSW	11	119325502	missense	possibly damaging	0.66
R8181:Card14	UTSW	11	119321892	missense	probably damaging	1.00
R8188:Card14	UTSW	11	119337797	missense	probably damaging	1.00
R8493:Card14	UTSW	11	119333609	critical splice donor site	probably null
R8499:Card14	UTSW	11	119331244	missense	probably benign	0.10
R8924:Card14	UTSW	11	119326104	missense	possibly damaging	0.89
R9133:Card14	UTSW	11	119341009	missense	probably damaging	0.98
R9253:Card14	UTSW	11	119321933	missense	probably benign
R9464:Card14	UTSW	11	119317205	missense	probably benign	0.04
Z1177:Card14	UTSW	11	119341061	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AATCTAGGGTTCCTCCGACC -3'
(R):5'- CTGGACTGTCAGGTTTGAGAAG -3'

Sequencing Primer
(F):5'- ATAGCAGTGTCCCCGTGAG -3'
(R):5'- CAGGTTTGAGAAGGGGGCTCC -3'

Posted On

2018-06-22