Mutagenetix > Incidental Mutation

Incidental Mutation 'R7718:Card6'

595063

Institutional Source

Beutler Lab

Gene Symbol

Card6

Ensembl Gene

ENSMUSG00000041849

Gene Name

caspase recruitment domain family, member 6

Synonyms

MMRRC Submission

045775-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7718 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5125463-5138021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5129269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 709 (V709A)

Ref Sequence

ENSEMBL: ENSMUSP00000112833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118365]

AlphaFold

E9PWH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118365
AA Change: V709A

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: V709A

Domain	Start	End	E-Value	Type
CARD	3	89	2.13e-5	SMART
low complexity region	237	245	N/A	INTRINSIC
low complexity region	257	273	N/A	INTRINSIC
Blast:PGAM	278	656	7e-45	BLAST
low complexity region	919	935	N/A	INTRINSIC
low complexity region	946	961	N/A	INTRINSIC
internal_repeat_1	962	1041	6.5e-13	PROSPERO
internal_repeat_1	1039	1101	6.5e-13	PROSPERO
low complexity region	1107	1132	N/A	INTRINSIC

Meta Mutation Damage Score

0.0803

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008]
PHENOTYPE: Knockout mice are viable and grossly normal with no deficits in thymocytes, granulocytes, macrophages, NK cells or T- and B-cell subsets. Various signaling pathways mediating innate and adaptive immune responses appear unaltered. Mice are normally resistant to infection by a wide range of pathogens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	T	5: 138,646,122 (GRCm39)	H669L	possibly damaging	Het
Abcb1a	A	T	5: 8,765,788 (GRCm39)	N700I	probably damaging	Het
Abcc6	T	C	7: 45,626,816 (GRCm39)	K1414E	possibly damaging	Het
Adcy5	T	C	16: 35,100,785 (GRCm39)	V779A	probably benign	Het
Agap2	A	G	10: 126,915,734 (GRCm39)	S82G	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,305 (GRCm39)	N864S	probably damaging	Het
Ang2	A	T	14: 51,433,217 (GRCm39)	V55E	probably benign	Het
Ank2	A	G	3: 126,758,662 (GRCm39)	M179T	possibly damaging	Het
Atrnl1	T	A	19: 57,728,615 (GRCm39)	C1090*	probably null	Het
Atxn1l	A	G	8: 110,459,866 (GRCm39)	L132P	probably damaging	Het
Bptf	A	G	11: 106,972,282 (GRCm39)	V862A	possibly damaging	Het
Capn11	C	A	17: 45,954,707 (GRCm39)	K143N	probably damaging	Het
Cavin4	C	T	4: 48,671,984 (GRCm39)	A143V	probably benign	Het
Cntn5	A	G	9: 9,984,133 (GRCm39)	I160T	probably benign	Het
Cyp2c40	T	A	19: 39,755,782 (GRCm39)	N511Y	probably benign	Het
Dsc2	A	T	18: 20,174,835 (GRCm39)	I480N	probably damaging	Het
Elf2	G	T	3: 51,173,385 (GRCm39)		probably benign	Het
Enoph1	T	C	5: 100,210,019 (GRCm39)	V133A	possibly damaging	Het
Ezh2	A	T	6: 47,531,125 (GRCm39)	D186E	probably benign	Het
Fcgbpl1	T	C	7: 27,846,626 (GRCm39)	F1106S	probably damaging	Het
Gfra1	T	C	19: 58,441,889 (GRCm39)	D14G	possibly damaging	Het
Gmip	C	T	8: 70,270,383 (GRCm39)	R698W	probably damaging	Het
Grk4	A	G	5: 34,852,160 (GRCm39)	N135D	probably benign	Het
Hspb6	A	G	7: 30,253,772 (GRCm39)	D95G	probably benign	Het
Htatip2	T	G	7: 49,420,632 (GRCm39)	H159Q	possibly damaging	Het
Igfn1	T	C	1: 135,896,774 (GRCm39)	E1264G	probably benign	Het
Insyn2b	T	C	11: 34,352,539 (GRCm39)	S194P	probably benign	Het
Katnb1	T	A	8: 95,821,836 (GRCm39)	V223E	possibly damaging	Het
Klra6	AGG	AG	6: 129,990,315 (GRCm39)		probably null	Het
Masp2	C	T	4: 148,687,204 (GRCm39)	R29C	probably damaging	Het
Mcm3	A	T	1: 20,887,498 (GRCm39)	C123*	probably null	Het
Mdn1	T	C	4: 32,718,420 (GRCm39)	V2225A	probably damaging	Het
Me1	A	G	9: 86,561,953 (GRCm39)	L44S	probably damaging	Het
Mlxip	A	G	5: 123,583,577 (GRCm39)	N380S	probably benign	Het
Muc21	T	C	17: 35,933,728 (GRCm39)	T153A	unknown	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Myocd	A	T	11: 65,109,452 (GRCm39)	D106E	probably damaging	Het
Oat	T	C	7: 132,159,988 (GRCm39)	I411V	probably benign	Het
Or2d2	A	T	7: 106,727,925 (GRCm39)	V225D	probably damaging	Het
Or5p59	T	C	7: 107,702,855 (GRCm39)	V113A	probably benign	Het
Or8k38	A	G	2: 86,488,373 (GRCm39)	V143A	probably benign	Het
Orc2	A	T	1: 58,519,476 (GRCm39)	H246Q	possibly damaging	Het
Pank4	A	G	4: 155,059,100 (GRCm39)	E411G	probably damaging	Het
Patl2	A	T	2: 121,957,255 (GRCm39)		probably null	Het
Pcdhb15	A	G	18: 37,608,216 (GRCm39)	N483D	probably damaging	Het
Pcdhb20	A	G	18: 37,638,704 (GRCm39)	D410G	probably damaging	Het
Pdcl2	A	G	5: 76,465,846 (GRCm39)	C125R	probably damaging	Het
Peli3	C	G	19: 4,984,584 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,805,474 (GRCm39)	D3313G	probably benign	Het
Plec	A	C	15: 76,061,639 (GRCm39)	M2766R	probably damaging	Het
Ppargc1a	C	T	5: 51,655,504 (GRCm39)	V99M	probably damaging	Het
Prr35	T	A	17: 26,165,998 (GRCm39)	R430*	probably null	Het
Psg19	G	A	7: 18,526,368 (GRCm39)	A374V	probably benign	Het
Psmd7	A	T	8: 108,313,261 (GRCm39)	F54L	possibly damaging	Het
Ptbp2	C	T	3: 119,514,637 (GRCm39)	G397R	probably null	Het
Ranbp3	A	G	17: 57,003,718 (GRCm39)	D39G	probably damaging	Het
Rcor3	T	C	1: 191,786,021 (GRCm39)	T406A	probably benign	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Ripk2	T	C	4: 16,151,968 (GRCm39)	N197S	possibly damaging	Het
Rpia	A	T	6: 70,743,602 (GRCm39)	M283K	probably damaging	Het
Rps6kc1	T	C	1: 190,604,022 (GRCm39)	D200G	probably benign	Het
Sipa1l1	A	T	12: 82,389,271 (GRCm39)	K499M	probably damaging	Het
Slc5a4b	A	G	10: 75,906,407 (GRCm39)	L404P	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spmip4	G	A	6: 50,566,078 (GRCm39)		probably null	Het
St7	A	C	6: 17,854,998 (GRCm39)	T312P	probably damaging	Het
Strbp	T	C	2: 37,515,294 (GRCm39)	E244G	probably damaging	Het
Tbc1d8	T	G	1: 39,416,061 (GRCm39)	T871P	probably benign	Het
Tcp1	T	A	17: 13,141,049 (GRCm39)	I286N	probably damaging	Het
Tead3	C	A	17: 28,552,491 (GRCm39)	V327F	probably damaging	Het
Tmem132c	A	T	5: 127,640,504 (GRCm39)	T892S	probably benign	Het
Trmt2a	T	C	16: 18,068,487 (GRCm39)	S65P	probably benign	Het
Ubp1	A	G	9: 113,802,597 (GRCm39)	N479S	possibly damaging	Het
Ubtfl1	A	T	9: 18,320,527 (GRCm39)	L18F	possibly damaging	Het
Uevld	T	G	7: 46,587,804 (GRCm39)	M299L	probably benign	Het
Unc13b	T	A	4: 43,173,854 (GRCm39)	Y1561N	unknown	Het
Ylpm1	A	G	12: 85,075,896 (GRCm39)	K874E	probably damaging	Het
Zbtb37	G	A	1: 160,859,802 (GRCm39)	R168W	possibly damaging	Het

Other mutations in Card6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00755:Card6	APN	15	5,128,423 (GRCm39)	missense	possibly damaging	0.93
IGL01307:Card6	APN	15	5,129,484 (GRCm39)	missense	possibly damaging	0.93
IGL02016:Card6	APN	15	5,137,738 (GRCm39)	missense	probably damaging	1.00
IGL02976:Card6	APN	15	5,129,310 (GRCm39)	nonsense	probably null
IGL03328:Card6	APN	15	5,134,927 (GRCm39)	splice site	probably benign
IGL03356:Card6	APN	15	5,129,723 (GRCm39)	missense	probably benign	0.00
Mark	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
sharps	UTSW	15	5,129,378 (GRCm39)	nonsense	probably null
PIT4131001:Card6	UTSW	15	5,137,788 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Card6	UTSW	15	5,128,113 (GRCm39)	missense	unknown
PIT4458001:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R0562:Card6	UTSW	15	5,134,648 (GRCm39)	missense	probably damaging	1.00
R0943:Card6	UTSW	15	5,129,768 (GRCm39)	missense	probably damaging	1.00
R1654:Card6	UTSW	15	5,128,214 (GRCm39)	missense	probably benign	0.00
R3892:Card6	UTSW	15	5,128,778 (GRCm39)	missense	probably benign	0.01
R4408:Card6	UTSW	15	5,130,536 (GRCm39)	missense	probably damaging	0.97
R4856:Card6	UTSW	15	5,134,623 (GRCm39)	splice site	probably null
R4886:Card6	UTSW	15	5,134,623 (GRCm39)	splice site	probably null
R4998:Card6	UTSW	15	5,129,564 (GRCm39)	missense	probably benign	0.00
R5050:Card6	UTSW	15	5,129,858 (GRCm39)	missense	probably benign	0.00
R5365:Card6	UTSW	15	5,134,888 (GRCm39)	missense	possibly damaging	0.53
R5518:Card6	UTSW	15	5,134,696 (GRCm39)	missense	probably damaging	0.99
R5686:Card6	UTSW	15	5,130,435 (GRCm39)	missense	probably damaging	0.99
R6088:Card6	UTSW	15	5,134,501 (GRCm39)	missense	possibly damaging	0.56
R6194:Card6	UTSW	15	5,127,926 (GRCm39)	missense	unknown
R6336:Card6	UTSW	15	5,128,646 (GRCm39)	nonsense	probably null
R6539:Card6	UTSW	15	5,134,873 (GRCm39)	missense	probably damaging	0.99
R6560:Card6	UTSW	15	5,128,367 (GRCm39)	missense	probably damaging	1.00
R7132:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R7157:Card6	UTSW	15	5,129,591 (GRCm39)	missense	probably benign	0.07
R7174:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R7186:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R7338:Card6	UTSW	15	5,129,354 (GRCm39)	missense	probably benign	0.09
R7430:Card6	UTSW	15	5,128,682 (GRCm39)	missense	probably benign	0.00
R7579:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R7677:Card6	UTSW	15	5,127,926 (GRCm39)	missense	unknown
R7720:Card6	UTSW	15	5,127,905 (GRCm39)	missense	unknown
R7756:Card6	UTSW	15	5,129,378 (GRCm39)	nonsense	probably null
R7758:Card6	UTSW	15	5,129,378 (GRCm39)	nonsense	probably null
R7762:Card6	UTSW	15	5,134,820 (GRCm39)	missense	probably benign
R7786:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R7808:Card6	UTSW	15	5,128,954 (GRCm39)	missense	probably benign	0.00
R7817:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R7822:Card6	UTSW	15	5,128,347 (GRCm39)	missense	possibly damaging	0.82
R7902:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R7977:Card6	UTSW	15	5,130,007 (GRCm39)	missense	probably damaging	1.00
R7987:Card6	UTSW	15	5,130,007 (GRCm39)	missense	probably damaging	1.00
R8295:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R8303:Card6	UTSW	15	5,134,847 (GRCm39)	missense	probably benign	0.13
R8431:Card6	UTSW	15	5,129,758 (GRCm39)	missense	probably damaging	0.98
R8691:Card6	UTSW	15	5,129,078 (GRCm39)	missense	possibly damaging	0.76
R8937:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R8978:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R9009:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R9071:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R9441:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R9558:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R9565:Card6	UTSW	15	5,128,173 (GRCm39)	small deletion	probably benign
R9771:Card6	UTSW	15	5,129,693 (GRCm39)	missense	probably benign	0.01
R9800:Card6	UTSW	15	5,128,702 (GRCm39)	missense	probably benign	0.00
RF013:Card6	UTSW	15	5,129,624 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TGACCTCTGCTGTGAACAC -3'
(R):5'- CTTGAAGATATGGCCTGTCTGG -3'

Sequencing Primer
(F):5'- CTGCTGTGAACACTTGTATTCTG -3'
(R):5'- TTCAGGTAGACCAAGACTTTGAAG -3'

Posted On

2019-11-12