Mutagenetix > Incidental Mutation

Incidental Mutation 'R7808:Card6'

600968

Institutional Source

Beutler Lab

Gene Symbol

Card6

Ensembl Gene

ENSMUSG00000041849

Gene Name

caspase recruitment domain family, member 6

Synonyms

MMRRC Submission

045863-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5125463-5138021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5128954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 814 (H814R)

Ref Sequence

ENSEMBL: ENSMUSP00000112833 (fasta)

Gene Model

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

AlphaFold

E9PWH2

Predicted Effect

probably benign
Transcript: ENSMUST00000118365
AA Change: H814R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: H814R

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: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 86,957,297 (GRCm39)	V11A	probably benign	Het
Abca12	A	T	1: 71,313,793 (GRCm39)		probably null	Het
Abcc12	T	A	8: 87,234,568 (GRCm39)	M1232L	probably benign	Het
Adamts1	T	C	16: 85,597,117 (GRCm39)	Y314C	probably damaging	Het
Adgb	A	G	10: 10,254,403 (GRCm39)		probably null	Het
Ankrd12	T	A	17: 66,292,648 (GRCm39)	K928N	possibly damaging	Het
Ano5	A	T	7: 51,237,543 (GRCm39)	K789I	possibly damaging	Het
Cacna1d	G	T	14: 29,833,026 (GRCm39)	N938K	probably damaging	Het
Camk1g	T	C	1: 193,032,593 (GRCm39)	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,744,528 (GRCm39)	V966F	probably damaging	Het
Cenatac	T	C	9: 44,324,215 (GRCm39)	Q228R	probably null	Het
Cflar	A	G	1: 58,750,740 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,204,204 (GRCm39)	N66K	probably benign	Het
Clasrp	C	T	7: 19,322,671 (GRCm39)		probably null	Het
Clec4a4	T	C	6: 122,967,339 (GRCm39)	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,948,251 (GRCm39)	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,761,616 (GRCm39)	F633I	possibly damaging	Het
Col16a1	C	T	4: 129,967,057 (GRCm39)	P909S	unknown	Het
Csf1	C	A	3: 107,667,361 (GRCm39)	A7S	possibly damaging	Het
Cstpp1	T	C	2: 91,274,939 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,915,270 (GRCm39)	V833D	probably benign	Het
Dlg2	T	G	7: 92,080,263 (GRCm39)	I712M	probably benign	Het
Dmxl1	T	A	18: 50,011,382 (GRCm39)	F1180I	probably benign	Het
Dnah9	T	A	11: 65,896,631 (GRCm39)	K2398*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,621,893 (GRCm39)	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,081,178 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,047,911 (GRCm39)	S333P	possibly damaging	Het
Eed	A	T	7: 89,605,541 (GRCm39)	N349K	probably benign	Het
Eipr1	A	T	12: 28,816,769 (GRCm39)		probably null	Het
Fbxw16	A	C	9: 109,277,222 (GRCm39)	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,578,229 (GRCm39)	N172I	possibly damaging	Het
Fhip1b	G	A	7: 105,033,732 (GRCm39)	R509C	probably damaging	Het
Gabbr2	T	A	4: 46,875,744 (GRCm39)	H126L	possibly damaging	Het
Gcnt2	A	T	13: 41,014,338 (GRCm39)	N170Y	possibly damaging	Het
Gpt	A	G	15: 76,583,093 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,235,489 (GRCm39)	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,478,107 (GRCm39)	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,611,567 (GRCm39)	K340*	probably null	Het
Jcad	A	G	18: 4,673,113 (GRCm39)	K292E	probably damaging	Het
Krt5	T	A	15: 101,617,453 (GRCm39)	T427S	probably benign	Het
Krt76	T	C	15: 101,798,929 (GRCm39)	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,444,198 (GRCm39)	V141A	not run	Het
Lce6a	A	T	3: 92,527,642 (GRCm39)	V55D	probably benign	Het
Lpxn	C	T	19: 12,802,185 (GRCm39)	S170F	possibly damaging	Het
Magi2	T	C	5: 20,670,838 (GRCm39)	V394A	probably benign	Het
Mbnl1	G	A	3: 60,522,242 (GRCm39)		probably null	Het
Med16	T	A	10: 79,734,252 (GRCm39)	K554M	probably damaging	Het
Mettl14	T	C	3: 123,166,234 (GRCm39)	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,399,009 (GRCm39)	D1002G	probably damaging	Het
Mroh9	T	C	1: 162,866,678 (GRCm39)	E686G	probably damaging	Het
Nav1	T	C	1: 135,379,986 (GRCm39)	Y1512C	unknown	Het
Neb	T	C	2: 52,082,035 (GRCm39)	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,489,509 (GRCm39)		probably benign	Het
Nptx1	T	A	11: 119,435,462 (GRCm39)	I285F	probably damaging	Het
Oas1d	G	T	5: 121,053,034 (GRCm39)	E30*	probably null	Het
Or1p1b	A	T	11: 74,130,725 (GRCm39)	I112F	probably damaging	Het
Or51g2	A	G	7: 102,622,317 (GRCm39)	V294A	possibly damaging	Het
Or6n1	C	A	1: 173,917,417 (GRCm39)	Y270*	probably null	Het
Parp4	T	G	14: 56,873,205 (GRCm39)	S1150A	possibly damaging	Het
Pinx1	A	T	14: 64,156,741 (GRCm39)	K223*	probably null	Het
Plekha5	T	C	6: 140,529,640 (GRCm39)	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,019,755 (GRCm39)	V400A	possibly damaging	Het
Prtg	A	T	9: 72,749,979 (GRCm39)	I128F	possibly damaging	Het
Rars1	T	C	11: 35,719,534 (GRCm39)	E96G	probably benign	Het
Rhpn1	T	A	15: 75,585,299 (GRCm39)	S551T	probably benign	Het
Selenow	C	T	7: 15,656,176 (GRCm39)		probably null	Het
Serpina9	A	T	12: 103,967,484 (GRCm39)		probably null	Het
Shank3	A	T	15: 89,433,083 (GRCm39)	D1276V	probably damaging	Het
Slc27a6	A	G	18: 58,742,267 (GRCm39)	T494A	probably damaging	Het
Slc34a1	A	C	13: 24,003,317 (GRCm39)	H285P	probably damaging	Het
Slc6a21	A	C	7: 44,932,360 (GRCm39)	T54P		Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tal1	T	C	4: 114,925,489 (GRCm39)	V186A	probably benign	Het
Tars3	A	G	7: 65,302,009 (GRCm39)	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984 (GRCm39)	I456L	probably benign	Het
Tfcp2	A	G	15: 100,420,310 (GRCm39)	F175S	probably damaging	Het
Timp2	C	T	11: 118,194,626 (GRCm39)	A188T	probably damaging	Het
Tmc5	T	A	7: 118,268,440 (GRCm39)	I836N	probably damaging	Het
Tmem100	T	A	11: 89,926,302 (GRCm39)	M43K	probably benign	Het
Ulk2	A	G	11: 61,745,378 (GRCm39)	Y9H	probably damaging	Het
Usp7	T	C	16: 8,523,027 (GRCm39)	K311E	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033 (GRCm39)	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,496,678 (GRCm39)	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,893,469 (GRCm39)	G44S	probably benign	Het
Zfp677	C	A	17: 21,617,647 (GRCm39)	H235N	probably damaging	Het
Zfp869	T	A	8: 70,159,636 (GRCm39)	R312S	probably 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
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'- GGGGCAGTGTCCTTATAGAC -3'
(R):5'- ACTTTAGATCACAGCAGAAGGC -3'

Sequencing Primer
(F):5'- GGCAGTGTCCTTATAGACTTTCCAG -3'
(R):5'- CAGAAGGCTGAGTGGTTCTTTCC -3'

Posted On

2019-11-26