Incidental Mutation 'R7720:Card6'
| ID |
595192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Card6
|
| Ensembl Gene |
ENSMUSG00000041849 |
| Gene Name |
caspase recruitment domain family, member 6 |
| Synonyms |
|
| MMRRC Submission |
067892-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
5125463-5138021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 5127905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1164
(Q1164K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118365]
|
| AlphaFold |
E9PWH2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000118365
AA Change: Q1164K
|
| SMART Domains |
Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: Q1164K
| 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 |
0.0725 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,926,957 (GRCm39) |
D1018G |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,433,539 (GRCm39) |
N237S |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,548 (GRCm39) |
R102G |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,222,430 (GRCm39) |
C730Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,981,108 (GRCm39) |
L2770Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,072 (GRCm39) |
T87A |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,856,974 (GRCm39) |
I1269T |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,705,127 (GRCm39) |
E138G |
possibly damaging |
Het |
| Fam124b |
A |
G |
1: 80,177,974 (GRCm39) |
S342P |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,758,907 (GRCm39) |
S76P |
probably damaging |
Het |
| Gipr |
T |
C |
7: 18,896,884 (GRCm39) |
I129V |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,288 (GRCm39) |
V558D |
probably damaging |
Het |
| Gsdme |
C |
T |
6: 50,206,288 (GRCm39) |
G185E |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,660,966 (GRCm39) |
C148S |
probably damaging |
Het |
| Hgd |
T |
A |
16: 37,413,797 (GRCm39) |
D86E |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,522,460 (GRCm39) |
H3480L |
probably benign |
Het |
| Hs2st1 |
T |
C |
3: 144,159,783 (GRCm39) |
N127D |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,310,833 (GRCm39) |
N599S |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,664,971 (GRCm39) |
G1132R |
unknown |
Het |
| Jakmip2 |
A |
G |
18: 43,704,973 (GRCm39) |
S343P |
possibly damaging |
Het |
| Kif1b |
A |
G |
4: 149,266,812 (GRCm39) |
V1670A |
probably benign |
Het |
| Lman2 |
A |
T |
13: 55,500,890 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
T |
17: 75,692,119 (GRCm39) |
Y1579F |
probably damaging |
Het |
| Mon2 |
G |
A |
10: 122,868,493 (GRCm39) |
A520V |
probably benign |
Het |
| Mrpl10 |
T |
G |
11: 96,938,363 (GRCm39) |
V171G |
possibly damaging |
Het |
| Mrps27 |
A |
T |
13: 99,537,838 (GRCm39) |
T153S |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nlrp10 |
A |
G |
7: 108,523,695 (GRCm39) |
V595A |
probably benign |
Het |
| Nol4 |
A |
T |
18: 23,173,080 (GRCm39) |
M7K |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,067,980 (GRCm39) |
S188N |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,618 (GRCm39) |
G16V |
probably benign |
Het |
| Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,993 (GRCm39) |
Y279C |
probably damaging |
Het |
| Pfpl |
C |
T |
19: 12,406,538 (GRCm39) |
A263V |
probably benign |
Het |
| Phf3 |
T |
G |
1: 30,868,938 (GRCm39) |
K703N |
probably damaging |
Het |
| Pik3ca |
C |
G |
3: 32,490,367 (GRCm39) |
P5A |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,221,445 (GRCm39) |
V987A |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,596,250 (GRCm39) |
I305N |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,252,161 (GRCm39) |
K1069E |
possibly damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,403 (GRCm39) |
V182A |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,211,703 (GRCm38) |
N995S |
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,693,903 (GRCm39) |
G1375V |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,560,864 (GRCm39) |
Y325C |
possibly damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,178 (GRCm39) |
D244G |
probably benign |
Het |
| Shcbp1 |
A |
C |
8: 4,798,720 (GRCm39) |
S400A |
probably damaging |
Het |
| Shfl |
C |
T |
9: 20,780,155 (GRCm39) |
|
probably benign |
Het |
| Sirpb1c |
T |
A |
3: 15,886,236 (GRCm39) |
Y380F |
probably benign |
Het |
| Tbl2 |
G |
C |
5: 135,188,329 (GRCm39) |
L374F |
probably damaging |
Het |
| Tpr |
C |
A |
1: 150,305,283 (GRCm39) |
A1524E |
possibly damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,460 (GRCm39) |
E276V |
probably damaging |
Het |
| Vps16 |
C |
T |
2: 130,283,623 (GRCm39) |
Q606* |
probably null |
Het |
| Vstm5 |
A |
T |
9: 15,150,652 (GRCm39) |
Q29L |
probably benign |
Het |
| Wipi1 |
G |
T |
11: 109,473,249 (GRCm39) |
S250Y |
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 |
|
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'- TCTGCTATGCACTTAAGACTTTGC -3'
(R):5'- ACAGTCCTCCCATGCTAAGC -3'
Sequencing Primer
(F):5'- TGGGAAGAATAGCTTAAGC -3'
(R):5'- TGCTAAGCCCTCTCATCCACAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation