Incidental Mutation 'R7132:Card6'
| ID |
552770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Card6
|
| Ensembl Gene |
ENSMUSG00000041849 |
| Gene Name |
caspase recruitment domain family, member 6 |
| Synonyms |
|
| MMRRC Submission |
045217-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7132 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| 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: 100.0%
- 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
C |
T |
10: 69,825,744 (GRCm39) |
A1471V |
|
Het |
| Ankrd12 |
C |
A |
17: 66,290,242 (GRCm39) |
M1730I |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,199,478 (GRCm39) |
Y462H |
probably benign |
Het |
| Ap5b1 |
T |
A |
19: 5,619,412 (GRCm39) |
Y277* |
probably null |
Het |
| App |
T |
C |
16: 84,853,370 (GRCm39) |
D236G |
unknown |
Het |
| Arid2 |
A |
T |
15: 96,247,894 (GRCm39) |
K102I |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,043,543 (GRCm39) |
V211A |
possibly damaging |
Het |
| Cbx2 |
A |
G |
11: 118,913,947 (GRCm39) |
S5G |
probably benign |
Het |
| Ccdc183 |
A |
G |
2: 25,506,542 (GRCm39) |
|
probably null |
Het |
| Cd72 |
T |
C |
4: 43,452,444 (GRCm39) |
Q183R |
possibly damaging |
Het |
| Cdh26 |
T |
A |
2: 178,128,555 (GRCm39) |
D702E |
possibly damaging |
Het |
| Cfap61 |
A |
T |
2: 145,951,870 (GRCm39) |
N784I |
probably damaging |
Het |
| Cgrrf1 |
G |
A |
14: 47,091,321 (GRCm39) |
V282M |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
T |
G |
2: 64,964,112 (GRCm39) |
K170Q |
probably damaging |
Het |
| Copg2 |
A |
T |
6: 30,792,931 (GRCm39) |
V468D |
probably benign |
Het |
| Cracr2b |
C |
T |
7: 141,043,651 (GRCm39) |
A84V |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,993 (GRCm39) |
D416V |
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,342,391 (GRCm39) |
F75S |
probably benign |
Het |
| Eml3 |
G |
T |
19: 8,918,392 (GRCm39) |
A829S |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,390,086 (GRCm39) |
T402A |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,887,546 (GRCm39) |
V550E |
probably damaging |
Het |
| Fgb |
G |
A |
3: 82,954,053 (GRCm39) |
R62* |
probably null |
Het |
| Fubp1 |
T |
A |
3: 151,937,661 (GRCm39) |
|
probably null |
Het |
| Gdf3 |
A |
C |
6: 122,583,283 (GRCm39) |
D361E |
probably damaging |
Het |
| Gm6685 |
A |
T |
11: 28,289,330 (GRCm39) |
I162N |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,157,645 (GRCm39) |
Y253C |
probably damaging |
Het |
| Ints2 |
G |
T |
11: 86,108,580 (GRCm39) |
N922K |
probably benign |
Het |
| Ipo7 |
C |
T |
7: 109,653,254 (GRCm39) |
L984F |
probably benign |
Het |
| Itgae |
A |
T |
11: 73,002,184 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,076,597 (GRCm39) |
V697A |
unknown |
Het |
| Kctd18 |
G |
A |
1: 58,006,737 (GRCm39) |
R38* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,526,844 (GRCm39) |
D322G |
probably damaging |
Het |
| Ldb3 |
A |
G |
14: 34,298,992 (GRCm39) |
Y211H |
probably benign |
Het |
| Limch1 |
T |
C |
5: 67,111,028 (GRCm39) |
F85S |
probably damaging |
Het |
| Lrrn4 |
A |
T |
2: 132,721,613 (GRCm39) |
L68* |
probably null |
Het |
| Lrwd1 |
A |
G |
5: 136,152,129 (GRCm39) |
V616A |
possibly damaging |
Het |
| Nars1 |
A |
G |
18: 64,640,841 (GRCm39) |
|
probably null |
Het |
| Nradd |
T |
C |
9: 110,451,329 (GRCm39) |
D13G |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,831,480 (GRCm39) |
N39I |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,983 (GRCm39) |
H178L |
possibly damaging |
Het |
| Or9i14 |
T |
A |
19: 13,792,786 (GRCm39) |
Q56L |
probably benign |
Het |
| Pcdhga4 |
A |
C |
18: 37,820,430 (GRCm39) |
T660P |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,942,102 (GRCm39) |
I902F |
possibly damaging |
Het |
| Plod3 |
T |
C |
5: 137,023,971 (GRCm39) |
L180S |
|
Het |
| Prrc2c |
A |
T |
1: 162,508,850 (GRCm39) |
H2354Q |
possibly damaging |
Het |
| Pth2r |
A |
G |
1: 65,361,225 (GRCm39) |
E58G |
probably benign |
Het |
| Rev1 |
G |
T |
1: 38,110,530 (GRCm39) |
D573E |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,605,963 (GRCm39) |
L696* |
probably null |
Het |
| Serpinb3c |
A |
G |
1: 107,204,681 (GRCm39) |
S22P |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,929,351 (GRCm39) |
H81L |
|
Het |
| Stard9 |
A |
T |
2: 120,509,859 (GRCm39) |
K266* |
probably null |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
| Tcp10a |
C |
T |
17: 7,612,351 (GRCm39) |
T381I |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,881,806 (GRCm39) |
V125D |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,329 (GRCm39) |
S341P |
possibly damaging |
Het |
| Tmem190 |
G |
A |
7: 4,787,224 (GRCm39) |
V143I |
probably benign |
Het |
| Trap1 |
A |
G |
16: 3,873,693 (GRCm39) |
Y288H |
probably benign |
Het |
| Trim39 |
T |
C |
17: 36,571,547 (GRCm39) |
T404A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,576,043 (GRCm39) |
K24950I |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,774,696 (GRCm39) |
N2161K |
unknown |
Het |
| Unc13b |
T |
C |
4: 43,215,757 (GRCm39) |
S19P |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,778,536 (GRCm39) |
I471N |
probably damaging |
Het |
| Wbp11 |
T |
C |
6: 136,798,540 (GRCm39) |
T170A |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,152,026 (GRCm39) |
I177V |
probably benign |
Het |
| Zfp455 |
C |
A |
13: 67,347,230 (GRCm39) |
P51T |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,644 (GRCm39) |
Y133H |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,460,589 (GRCm39) |
Y514* |
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,808,697 (GRCm39) |
|
probably null |
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 |
|
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'- TGGGTCTCGGTTGAAAAGGC -3'
(R):5'- TGCTAAACCTTCTCATCAGAATCC -3'
Sequencing Primer
(F):5'- GCCTTACACTGAGTAGACTGG -3'
(R):5'- TCAGAATCCCTCTCATGCTAAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation