Mutagenetix > Incidental Mutation

Incidental Mutation 'R4408:Card6'

327771

Institutional Source

Beutler Lab

Gene Symbol

Card6

Ensembl Gene

ENSMUSG00000041849

Gene Name

caspase recruitment domain family, member 6

Synonyms

MMRRC Submission

041690-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4408 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5125463-5138021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5130536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 287 (M287L)

Ref Sequence

ENSEMBL: ENSMUSP00000112833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118365] [ENSMUST00000141020]

AlphaFold

E9PWH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000118365
AA Change: M287L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: M287L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141020

SMART Domains

Protein: ENSMUSP00000118817
Gene: ENSMUSG00000041849

Domain	Start	End	E-Value	Type
CARD	3	89	2.13e-5	SMART

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (35/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1h	A	G	17: 25,599,601 (GRCm39)	V1588A	probably damaging	Het
Fam227b	T	A	2: 125,958,045 (GRCm39)	Y240F	possibly damaging	Het
Fbln1	T	A	15: 85,115,757 (GRCm39)		probably null	Het
Fndc5	A	G	4: 129,036,322 (GRCm39)		probably null	Het
Gm10799	C	A	2: 103,898,409 (GRCm39)	A99S	possibly damaging	Het
Gm27013	A	T	6: 130,654,728 (GRCm39)	S245T	possibly damaging	Het
Gm5592	A	G	7: 40,935,872 (GRCm39)	T125A	probably benign	Het
Gml2	T	C	15: 74,696,188 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,585,498 (GRCm39)	N149K	possibly damaging	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Hnrnpu	T	C	1: 178,158,368 (GRCm39)		probably benign	Het
Irf5	A	G	6: 29,534,000 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,297,513 (GRCm39)	K3149N	probably benign	Het
Lrrn3	A	G	12: 41,504,041 (GRCm39)	V92A	probably benign	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Or4k77	T	A	2: 111,199,625 (GRCm39)	I216K	possibly damaging	Het
Or9s18	A	G	13: 65,300,514 (GRCm39)	T159A	probably benign	Het
Osr2	T	C	15: 35,300,617 (GRCm39)	Y58H	possibly damaging	Het
Pop5	C	T	5: 115,378,836 (GRCm39)		probably benign	Het
Ror2	A	G	13: 53,272,997 (GRCm39)	C211R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sgsm2	C	A	11: 74,742,592 (GRCm39)	R957L	probably damaging	Het
Slc16a11	A	G	11: 70,106,560 (GRCm39)		probably null	Het
Spag17	T	A	3: 100,010,694 (GRCm39)	Y2063N	probably benign	Het
Usp25	A	C	16: 76,912,341 (GRCm39)	K1020T	probably damaging	Het
Vmn1r23	T	C	6: 57,903,353 (GRCm39)	I142V	probably benign	Het
Vmn1r235	A	G	17: 21,481,854 (GRCm39)	K60E	probably damaging	Het
Vmn2r33	A	C	7: 7,554,229 (GRCm39)	F775V	probably damaging	Het
Vps13b	C	T	15: 35,709,440 (GRCm39)	P1796S	probably damaging	Het
Vwa3a	G	A	7: 120,378,149 (GRCm39)	V480I	probably benign	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
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
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'- CACCATCTTGTGCCTAAGGG -3'
(R):5'- CTGGCAAACATGACTCAAGAGC -3'

Sequencing Primer
(F):5'- CCTAAGGGTAAAATCTCTGGCTGTC -3'
(R):5'- TGCAGCCAAGAATGCCTTTG -3'

Posted On

2015-07-07