Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Card6'

595192

Institutional Source

Beutler Lab

Gene Symbol

Card6

Ensembl Gene

ENSMUSG00000041849

Gene Name

caspase recruitment domain family, member 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5095981-5108539 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5098423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1164 (Q1164K)

Ref Sequence

ENSEMBL: ENSMUSP00000112833 (fasta)

Gene Model

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

AlphaFold

E9PWH2

Predicted Effect

unknown
Transcript: ENSMUST00000118365
AA Change: Q1164K

SMART Domains

Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: Q1164K

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

0.0725

Coding Region Coverage

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

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,102	C148S	probably damaging	Het
4921530L21Rik	A	G	14: 95,882,112	R102G	probably benign	Het
A230050P20Rik	C	T	9: 20,868,859		probably benign	Het
Agap2	A	G	10: 127,091,088	D1018G	probably damaging	Het
Atm	T	C	9: 53,522,239	N237S	possibly damaging	Het
Cped1	G	A	6: 22,222,431	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257	S342P	probably damaging	Het
Fam71d	T	C	12: 78,712,133	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959	I129V	probably benign	Het
Gm5415	T	C	1: 32,546,097	D244G	probably benign	Het
Gria4	A	T	9: 4,464,288	V558D	probably damaging	Het
Gsdme	C	T	6: 50,229,308	G185E	probably damaging	Het
Hgd	T	A	16: 37,593,435	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022	N127D	probably damaging	Het
Ilf3	A	G	9: 21,399,537	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,868,083	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,182,355	V1670A	probably benign	Het
Lman2	A	T	13: 55,353,077		probably null	Het
Ltbp1	A	T	17: 75,385,124	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921	S188N	probably damaging	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Olfr709-ps1	C	A	7: 106,927,411	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218	P5A	probably damaging	Het
Plekha6	T	C	1: 133,293,707	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,861,335	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430	Y325C	possibly damaging	Het
Shcbp1	A	C	8: 4,748,720	S400A	probably damaging	Het
Sirpb1c	T	A	3: 15,832,072	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356	Q29L	probably benign	Het
Wipi1	G	T	11: 109,582,423	S250Y	probably damaging	Het

Other mutations in Card6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00755:Card6	APN	15	5098941	missense	possibly damaging	0.93
IGL01307:Card6	APN	15	5100002	missense	possibly damaging	0.93
IGL02016:Card6	APN	15	5108256	missense	probably damaging	1.00
IGL02976:Card6	APN	15	5099828	nonsense	probably null
IGL03328:Card6	APN	15	5105445	splice site	probably benign
IGL03356:Card6	APN	15	5100241	missense	probably benign	0.00
Mark	UTSW	15	5098691	small deletion	probably benign
sharps	UTSW	15	5099896	nonsense	probably null
PIT4131001:Card6	UTSW	15	5108306	missense	probably damaging	1.00
PIT4142001:Card6	UTSW	15	5098631	missense	unknown
PIT4458001:Card6	UTSW	15	5098691	small deletion	probably benign
R0562:Card6	UTSW	15	5105166	missense	probably damaging	1.00
R0943:Card6	UTSW	15	5100286	missense	probably damaging	1.00
R1654:Card6	UTSW	15	5098732	missense	probably benign	0.00
R3892:Card6	UTSW	15	5099296	missense	probably benign	0.01
R4408:Card6	UTSW	15	5101054	missense	probably damaging	0.97
R4856:Card6	UTSW	15	5105141	splice site	probably null
R4886:Card6	UTSW	15	5105141	splice site	probably null
R4998:Card6	UTSW	15	5100082	missense	probably benign	0.00
R5050:Card6	UTSW	15	5100376	missense	probably benign	0.00
R5365:Card6	UTSW	15	5105406	missense	possibly damaging	0.53
R5518:Card6	UTSW	15	5105214	missense	probably damaging	0.99
R5686:Card6	UTSW	15	5100953	missense	probably damaging	0.99
R6088:Card6	UTSW	15	5105019	missense	possibly damaging	0.56
R6194:Card6	UTSW	15	5098444	missense	unknown
R6336:Card6	UTSW	15	5099164	nonsense	probably null
R6539:Card6	UTSW	15	5105391	missense	probably damaging	0.99
R6560:Card6	UTSW	15	5098885	missense	probably damaging	1.00
R7132:Card6	UTSW	15	5098691	small deletion	probably benign
R7157:Card6	UTSW	15	5100109	missense	probably benign	0.07
R7174:Card6	UTSW	15	5098691	small deletion	probably benign
R7186:Card6	UTSW	15	5098691	small deletion	probably benign
R7338:Card6	UTSW	15	5099872	missense	probably benign	0.09
R7430:Card6	UTSW	15	5099200	missense	probably benign	0.00
R7579:Card6	UTSW	15	5098691	small deletion	probably benign
R7677:Card6	UTSW	15	5098444	missense	unknown
R7718:Card6	UTSW	15	5099787	missense	possibly damaging	0.54
R7756:Card6	UTSW	15	5099896	nonsense	probably null
R7758:Card6	UTSW	15	5099896	nonsense	probably null
R7762:Card6	UTSW	15	5105338	missense	probably benign
R7786:Card6	UTSW	15	5098691	small deletion	probably benign
R7808:Card6	UTSW	15	5099472	missense	probably benign	0.00
R7817:Card6	UTSW	15	5098691	small deletion	probably benign
R7822:Card6	UTSW	15	5098865	missense	possibly damaging	0.82
R7902:Card6	UTSW	15	5098691	small deletion	probably benign
R7977:Card6	UTSW	15	5100525	missense	probably damaging	1.00
R7987:Card6	UTSW	15	5100525	missense	probably damaging	1.00
R8295:Card6	UTSW	15	5098691	small deletion	probably benign
R8303:Card6	UTSW	15	5105365	missense	probably benign	0.13
R8431:Card6	UTSW	15	5100276	missense	probably damaging	0.98
R8691:Card6	UTSW	15	5099596	missense	possibly damaging	0.76
R8937:Card6	UTSW	15	5098691	small deletion	probably benign
R8978:Card6	UTSW	15	5098691	small deletion	probably benign
R9009:Card6	UTSW	15	5098691	small deletion	probably benign
R9071:Card6	UTSW	15	5098691	small deletion	probably benign
R9441:Card6	UTSW	15	5098691	small deletion	probably benign
R9558:Card6	UTSW	15	5098691	small deletion	probably benign
R9565:Card6	UTSW	15	5098691	small deletion	probably benign
R9771:Card6	UTSW	15	5100211	missense	probably benign	0.01
R9800:Card6	UTSW	15	5099220	missense	probably benign	0.00
RF013:Card6	UTSW	15	5100142	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TCTGCTATGCACTTAAGACTTTGC -3'
(R):5'- ACAGTCCTCCCATGCTAAGC -3'

Sequencing Primer
(F):5'- TGGGAAGAATAGCTTAAGC -3'
(R):5'- TGCTAAGCCCTCTCATCCACAG -3'

Posted On

2019-11-12