Mutagenetix > Incidental Mutation

Incidental Mutation 'R8295:Card6'

638903

Institutional Source

Beutler Lab

Gene Symbol

Card6

Ensembl Gene

ENSMUSG00000041849

Gene Name

caspase recruitment domain family, member 6

Synonyms

MMRRC Submission

067714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8295 (G1)

Quality Score

210.458

Status

Not validated

Chromosome

Chromosomal Location

5125463-5138021 bp(-) (GRCm39)

Type of Mutation

small deletion (10 aa in frame mutation)

DNA Base Change (assembly)

TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG to TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG at 5128173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112833 (fasta)

Gene Model

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

AlphaFold

E9PWH2

Predicted Effect

probably benign
Transcript: ENSMUST00000118365

SMART Domains

Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849

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

0.0846

Coding Region Coverage

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

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,974,188 (GRCm39)	I915S	probably benign	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Ahdc1	T	A	4: 132,788,762 (GRCm39)	M1K	probably null	Het
Akr1c12	T	G	13: 4,322,355 (GRCm39)	D229A	probably benign	Het
Ankfn1	C	T	11: 89,302,923 (GRCm39)	V32M	probably benign	Het
C7	A	T	15: 5,018,327 (GRCm39)	C839S	probably damaging	Het
Ccdc110	A	G	8: 46,396,416 (GRCm39)	D769G	probably damaging	Het
Clk2	G	T	3: 89,080,766 (GRCm39)	D251Y	probably damaging	Het
Dlx1	C	A	2: 71,362,726 (GRCm39)	P211Q	probably benign	Het
Dock8	G	A	19: 25,100,600 (GRCm39)	A703T	probably benign	Het
Eif2d	T	A	1: 131,085,988 (GRCm39)	L161Q	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fndc3a	T	C	14: 72,789,959 (GRCm39)	I1079V	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,262,234 (GRCm39)	V1104A	probably benign	Het
H2-Ab1	A	T	17: 34,483,816 (GRCm39)	Y59F	probably damaging	Het
Ints2	T	C	11: 86,115,914 (GRCm39)	T772A	probably damaging	Het
Kcnh4	A	G	11: 100,640,523 (GRCm39)	V501A	probably benign	Het
Ltbp1	A	T	17: 75,486,184 (GRCm39)	T70S	probably benign	Het
Obox2	A	G	7: 15,131,247 (GRCm39)	T118A	probably benign	Het
Or52ab4	C	T	7: 102,987,474 (GRCm39)	T71I	probably benign	Het
Or8k17	T	C	2: 86,066,916 (GRCm39)	M88V	probably benign	Het
Pih1d2	C	T	9: 50,532,379 (GRCm39)	H146Y	probably damaging	Het
Pou2af1	C	T	9: 51,144,305 (GRCm39)	S73F	possibly damaging	Het
Rnase2a	T	A	14: 51,493,096 (GRCm39)	I90L	probably benign	Het
S100a16	T	A	3: 90,449,336 (GRCm39)	C4S	probably benign	Het
Sprr1a	T	C	3: 92,391,849 (GRCm39)	K51E	possibly damaging	Het
Tmem168	A	T	6: 13,602,850 (GRCm39)	M172K	probably damaging	Het
Tnrc6b	T	C	15: 80,797,565 (GRCm39)	S1371P	probably damaging	Het
Trav21-dv12	T	A	14: 54,113,510 (GRCm39)	L13*	probably null	Het
Vmn1r234	T	A	17: 21,449,101 (GRCm39)	V5D	probably benign	Het
Vmn2r18	A	G	5: 151,508,621 (GRCm39)	C168R	probably damaging	Het
Vmn2r90	C	T	17: 17,948,358 (GRCm39)	P535S	probably benign	Het
Zfp595	A	G	13: 67,464,764 (GRCm39)	C503R	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
R7718:Card6	UTSW	15	5,129,269 (GRCm39)	missense	possibly damaging	0.54
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
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'- TGGGTCTCGGTTGAAAAGGC -3'
(R):5'- TGCTAAACCTTCTCATCAGAATCC -3'

Sequencing Primer
(F):5'- GCCTTACACTGAGTAGACTGG -3'
(R):5'- TCAGAATCCCTCTCATGCTAAC -3'

Posted On

2020-07-28