Incidental Mutation 'R9441:Card6'
| ID |
713662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Card6
|
| Ensembl Gene |
ENSMUSG00000041849 |
| Gene Name |
caspase recruitment domain family, member 6 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9441 (G1)
|
| Quality Score |
210.458 |
|
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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
C |
A |
9: 55,917,776 (GRCm39) |
G20V |
unknown |
Het |
| Adam22 |
T |
C |
5: 8,161,974 (GRCm39) |
T733A |
possibly damaging |
Het |
| Adam28 |
T |
A |
14: 68,874,943 (GRCm39) |
N245Y |
probably damaging |
Het |
| Aldh9a1 |
C |
G |
1: 167,177,919 (GRCm39) |
R39G |
probably benign |
Het |
| Armc3 |
A |
C |
2: 19,253,426 (GRCm39) |
E189A |
possibly damaging |
Het |
| Atg9a |
C |
T |
1: 75,163,086 (GRCm39) |
C338Y |
possibly damaging |
Het |
| Cars1 |
G |
A |
7: 143,123,185 (GRCm39) |
T560I |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,645,873 (GRCm39) |
K1649E |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cd84 |
G |
A |
1: 171,713,994 (GRCm39) |
|
probably null |
Het |
| Ces2g |
G |
T |
8: 105,690,623 (GRCm39) |
A135S |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,030,149 (GRCm39) |
D926G |
probably benign |
Het |
| Chrm2 |
A |
G |
6: 36,500,955 (GRCm39) |
T271A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,705,249 (GRCm39) |
Y2824* |
probably null |
Het |
| Cth |
T |
A |
3: 157,616,575 (GRCm39) |
R196S |
probably damaging |
Het |
| Cyp2g1 |
T |
C |
7: 26,514,060 (GRCm39) |
M222T |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,095,042 (GRCm39) |
M773K |
probably benign |
Het |
| Dmbx1 |
G |
A |
4: 115,780,884 (GRCm39) |
P39L |
probably damaging |
Het |
| Dst |
G |
C |
1: 34,238,432 (GRCm39) |
W1697C |
probably damaging |
Het |
| Eno1 |
C |
T |
4: 150,321,208 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
G |
T |
14: 27,802,114 (GRCm39) |
V761L |
possibly damaging |
Het |
| Frem1 |
A |
T |
4: 82,924,083 (GRCm39) |
I292N |
probably damaging |
Het |
| Ftdc2 |
G |
A |
16: 58,458,884 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
G |
T |
5: 135,460,571 (GRCm39) |
L530M |
possibly damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,268 (GRCm39) |
Q283R |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,501,392 (GRCm39) |
D894N |
probably damaging |
Het |
| Lats1 |
G |
T |
10: 7,578,681 (GRCm39) |
G602W |
probably damaging |
Het |
| Lgals12 |
A |
G |
19: 7,581,356 (GRCm39) |
L117P |
probably damaging |
Het |
| Mfsd4b1 |
A |
T |
10: 39,878,680 (GRCm39) |
L406I |
possibly damaging |
Het |
| Msln |
A |
T |
17: 25,969,731 (GRCm39) |
M333K |
probably benign |
Het |
| Mup2 |
A |
G |
4: 60,139,740 (GRCm39) |
V16A |
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,166,330 (GRCm39) |
E220G |
probably null |
Het |
| Myh6 |
A |
G |
14: 55,197,771 (GRCm39) |
Y456H |
probably benign |
Het |
| Nlrp1a |
A |
G |
11: 71,013,934 (GRCm39) |
S439P |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,733,194 (GRCm39) |
E613G |
probably benign |
Het |
| Or10b1 |
G |
A |
10: 78,355,609 (GRCm39) |
V56M |
probably benign |
Het |
| Parp8 |
C |
T |
13: 117,029,562 (GRCm39) |
V554M |
probably damaging |
Het |
| Phpt1 |
A |
T |
2: 25,464,750 (GRCm39) |
D34E |
probably benign |
Het |
| Ppip5k2 |
G |
A |
1: 97,672,921 (GRCm39) |
S463L |
probably benign |
Het |
| Prss28 |
A |
G |
17: 25,530,215 (GRCm39) |
Q173R |
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,988,860 (GRCm39) |
W441R |
possibly damaging |
Het |
| Serbp1 |
T |
C |
6: 67,244,025 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,347,848 (GRCm39) |
K1319E |
unknown |
Het |
| Slc35a4 |
G |
A |
18: 36,816,111 (GRCm39) |
G314S |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,498 (GRCm39) |
I180T |
probably damaging |
Het |
| Spire1 |
G |
A |
18: 67,652,462 (GRCm39) |
P205L |
probably benign |
Het |
| Tat |
G |
T |
8: 110,720,547 (GRCm39) |
G168W |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Trh |
C |
T |
6: 92,219,939 (GRCm39) |
G126R |
probably benign |
Het |
| Ugcg |
G |
A |
4: 59,207,843 (GRCm39) |
G61R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,260,306 (GRCm39) |
T170A |
probably benign |
Het |
| Unc5b |
G |
A |
10: 60,608,028 (GRCm39) |
P702S |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,562,073 (GRCm39) |
D89G |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,674 (GRCm39) |
I845K |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,740,498 (GRCm39) |
N267S |
possibly damaging |
Het |
| Xkr9 |
A |
G |
1: 13,771,587 (GRCm39) |
R368G |
possibly 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 |
|
|
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 |
|
|
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 |
2022-06-15 |
Incidental Mutation