Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Card19'

8266

Institutional Source

Beutler Lab

Gene Symbol

Card19

Ensembl Gene

ENSMUSG00000037960

Gene Name

caspase recruitment domain family, member 19

Synonyms

1110007C09Rik

MMRRC Submission

038310-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0015 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

49356426-49369471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49361532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 33 (L33P)

Ref Sequence

ENSEMBL: ENSMUSP00000047569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048946]

AlphaFold

Q9D1I2

Predicted Effect

probably benign
Transcript: ENSMUST00000048946
AA Change: L33P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000047569
Gene: ENSMUSG00000037960
AA Change: L33P

Domain	Start	End	E-Value	Type
Pfam:CARD	40	97	9.4e-8	PFAM
low complexity region	127	140	N/A	INTRINSIC
low complexity region	172	183	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223496

Meta Mutation Damage Score

0.8610

Coding Region Coverage

1x: 80.5%
3x: 72.2%
10x: 49.0%
20x: 28.4%

Validation Efficiency

90% (88/98)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130050O07Rik	A	G	1: 137,856,394 (GRCm39)	Y23C	unknown	Het
Aadat	C	T	8: 60,987,605 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,245,260 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,301,132 (GRCm39)		probably null	Het
Astn2	T	G	4: 66,184,619 (GRCm39)		probably null	Het
Borcs8	T	C	8: 70,593,017 (GRCm39)		probably benign	Het
Cacna1d	G	A	14: 29,836,928 (GRCm39)	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682 (GRCm39)		probably benign	Het
Cdh5	C	T	8: 104,867,559 (GRCm39)	T612I	probably benign	Het
Cfap58	A	G	19: 48,017,539 (GRCm39)	M800V	probably benign	Het
Clrn1	A	T	3: 58,753,848 (GRCm39)	I171K	probably damaging	Het
Cnp	T	A	11: 100,469,734 (GRCm39)		probably null	Het
Col12a1	T	C	9: 79,558,667 (GRCm39)	T1933A	probably damaging	Het
Cplane1	G	A	15: 8,215,668 (GRCm39)	R408H	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666 (GRCm39)	S660G	probably benign	Het
Dync1i2	C	A	2: 71,044,828 (GRCm39)	R13S	probably damaging	Het
Fat4	T	A	3: 39,036,652 (GRCm39)	S3435T	probably damaging	Het
Fchsd1	A	G	18: 38,096,012 (GRCm39)	C533R	probably benign	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Gria2	C	T	3: 80,615,074 (GRCm39)	G469S	probably damaging	Het
Hsf5	C	A	11: 87,548,161 (GRCm39)	H615N	probably benign	Het
Ints2	T	C	11: 86,140,113 (GRCm39)	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,570,080 (GRCm39)	D631A	probably damaging	Het
Lama4	C	T	10: 38,951,432 (GRCm39)	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,462,179 (GRCm39)	L226P	probably damaging	Het
Lonp1	T	A	17: 56,925,406 (GRCm39)	Q462L	probably benign	Het
Mark2	A	T	19: 7,263,142 (GRCm39)	Y231*	probably null	Het
Mdh1b	T	C	1: 63,760,959 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,464,206 (GRCm39)	P569L	probably damaging	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Ncapd3	C	A	9: 26,963,105 (GRCm39)	A470E	probably damaging	Het
Ndrg2	A	G	14: 52,147,902 (GRCm39)		probably benign	Het
Nprl2	A	T	9: 107,421,618 (GRCm39)	I209F	probably damaging	Het
Pcf11	T	A	7: 92,307,525 (GRCm39)	H881L	probably benign	Het
Pde10a	A	G	17: 9,196,029 (GRCm39)	D640G	probably damaging	Het
Pdxdc1	A	T	16: 13,705,547 (GRCm39)		probably benign	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Pter	G	A	2: 13,005,811 (GRCm39)	G328D	probably damaging	Het
Rad51	T	A	2: 118,946,808 (GRCm39)	M5K	probably benign	Het
Rbm43	T	A	2: 51,815,679 (GRCm39)	I181F	probably benign	Het
Rgs12	T	C	5: 35,180,120 (GRCm39)		probably benign	Het
Slc20a2	C	A	8: 23,025,361 (GRCm39)	A21E	probably damaging	Het
Sybu	T	C	15: 44,536,896 (GRCm39)	R349G	probably damaging	Het
Tmem161b	C	A	13: 84,370,533 (GRCm39)		probably null	Het
Xirp2	C	A	2: 67,341,243 (GRCm39)	Y1161*	probably null	Het
Zfand4	C	A	6: 116,305,258 (GRCm39)	T705K	probably damaging	Het

Other mutations in Card19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:Card19	APN	13	49,356,607 (GRCm39)	nonsense	probably null
R0106:Card19	UTSW	13	49,361,621 (GRCm39)	missense	probably benign	0.02
R0106:Card19	UTSW	13	49,361,621 (GRCm39)	missense	probably benign	0.02
R1183:Card19	UTSW	13	49,358,727 (GRCm39)	missense	probably damaging	1.00
R1373:Card19	UTSW	13	49,357,440 (GRCm39)	missense	probably damaging	1.00
R1462:Card19	UTSW	13	49,358,760 (GRCm39)	missense	probably benign	0.17
R1462:Card19	UTSW	13	49,358,760 (GRCm39)	missense	probably benign	0.17
R7420:Card19	UTSW	13	49,361,613 (GRCm39)	missense	probably damaging	1.00
R8876:Card19	UTSW	13	49,358,814 (GRCm39)	missense	possibly damaging	0.68

Posted On

2012-11-21