Incidental Mutation 'PIT4458001:Card6'
ID |
555935 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Card6
|
Ensembl Gene |
ENSMUSG00000041849 |
Gene Name |
caspase recruitment domain family, member 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4458001 (G1)
|
Quality Score |
100.491 |
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: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 73.0%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
T |
11: 9,248,304 (GRCm39) |
V2684L |
probably benign |
Het |
Adamts9 |
T |
A |
6: 92,866,886 (GRCm39) |
I718F |
probably damaging |
Het |
Adcyap1r1 |
A |
G |
6: 55,455,067 (GRCm39) |
D110G |
probably benign |
Het |
Adgrd1 |
G |
A |
5: 129,208,641 (GRCm39) |
G281D |
probably damaging |
Het |
Afg1l |
A |
T |
10: 42,330,366 (GRCm39) |
C100* |
probably null |
Het |
Atp2a2 |
G |
A |
5: 122,595,372 (GRCm39) |
Q993* |
probably null |
Het |
Baz1a |
A |
G |
12: 54,977,095 (GRCm39) |
M389T |
probably benign |
Het |
Btnl4 |
T |
A |
17: 34,693,242 (GRCm39) |
M58L |
probably benign |
Het |
Cpeb1 |
A |
T |
7: 80,998,180 (GRCm39) |
F533Y |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,308,179 (GRCm39) |
N166K |
possibly damaging |
Het |
Ecsit |
T |
C |
9: 21,987,580 (GRCm39) |
H153R |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,162,955 (GRCm39) |
K480E |
probably benign |
Het |
Glyat |
A |
T |
19: 12,625,373 (GRCm39) |
T66S |
probably benign |
Het |
Gm1110 |
T |
C |
9: 26,792,124 (GRCm39) |
Q632R |
probably benign |
Het |
Gm12185 |
C |
T |
11: 48,798,738 (GRCm39) |
R585Q |
probably damaging |
Het |
Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
Gm7489 |
A |
C |
15: 53,749,195 (GRCm39) |
E89A |
unknown |
Het |
Grb7 |
C |
T |
11: 98,344,655 (GRCm39) |
Q353* |
probably null |
Het |
Ifi207 |
G |
A |
1: 173,562,738 (GRCm39) |
T136I |
unknown |
Het |
Ighv3-1 |
T |
C |
12: 113,928,224 (GRCm39) |
Y45C |
probably benign |
Het |
Ing5 |
A |
G |
1: 93,739,668 (GRCm39) |
M92V |
possibly damaging |
Het |
Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
Lmo7 |
C |
T |
14: 102,124,923 (GRCm39) |
Q583* |
probably null |
Het |
Lrrc37a |
T |
C |
11: 103,395,338 (GRCm39) |
D29G |
probably benign |
Het |
Mpdz |
G |
T |
4: 81,337,263 (GRCm39) |
A10D |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,131,821 (GRCm39) |
M94V |
possibly damaging |
Het |
Nectin2 |
A |
C |
7: 19,472,252 (GRCm39) |
L46V |
probably benign |
Het |
Nynrin |
A |
T |
14: 56,101,425 (GRCm39) |
T365S |
probably benign |
Het |
Or4c120 |
A |
T |
2: 89,000,977 (GRCm39) |
I193K |
probably benign |
Het |
Pde4b |
A |
C |
4: 102,459,875 (GRCm39) |
E570A |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,855,622 (GRCm39) |
H988R |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,763,708 (GRCm39) |
K1234E |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,957,741 (GRCm39) |
M233K |
probably benign |
Het |
Prp2 |
C |
T |
6: 132,577,510 (GRCm39) |
P266S |
unknown |
Het |
Ralgds |
T |
C |
2: 28,432,486 (GRCm39) |
L160P |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,375,237 (GRCm39) |
M664K |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,570,334 (GRCm39) |
T4930A |
probably benign |
Het |
Senp8 |
T |
C |
9: 59,644,763 (GRCm39) |
Y131C |
probably damaging |
Het |
Sp100 |
A |
G |
1: 85,635,837 (GRCm39) |
I547M |
probably benign |
Het |
Spata20 |
A |
G |
11: 94,375,434 (GRCm39) |
M120T |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,069,664 (GRCm39) |
H604R |
probably benign |
Het |
Sycp1 |
A |
T |
3: 102,842,149 (GRCm39) |
S53T |
probably benign |
Het |
Tgm1 |
T |
C |
14: 55,950,022 (GRCm39) |
D62G |
unknown |
Het |
Trpm1 |
G |
C |
7: 63,918,309 (GRCm39) |
E1434Q |
possibly damaging |
Het |
Tshb |
A |
T |
3: 102,685,480 (GRCm39) |
Y50N |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,126,614 (GRCm39) |
Y413* |
probably null |
Het |
Zdhhc16 |
G |
A |
19: 41,926,209 (GRCm39) |
G55R |
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 |
|
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 |
|
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 |
2019-06-07 |