Incidental Mutation 'IGL03356:Card6'
| ID |
419959 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
5125463-5138021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5129723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 558
(A558T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118365]
[ENSMUST00000141020]
|
| AlphaFold |
E9PWH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118365
AA Change: A558T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: A558T
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141020
|
| SMART Domains |
Protein: ENSMUSP00000118817
Gene: ENSMUSG00000041849
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
3 |
89 |
2.13e-5 |
SMART |
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
C |
15: 60,791,737 (GRCm39) |
M233R |
probably benign |
Het |
| Aadat |
T |
C |
8: 60,984,725 (GRCm39) |
M256T |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,410 (GRCm39) |
N889S |
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,881,937 (GRCm39) |
I235N |
probably damaging |
Het |
| Ccdc175 |
T |
G |
12: 72,186,667 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
G |
5: 9,038,295 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,628,405 (GRCm39) |
S180P |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,692,816 (GRCm39) |
N81S |
possibly damaging |
Het |
| Dennd3 |
C |
T |
15: 73,440,482 (GRCm39) |
T1171M |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,953,069 (GRCm39) |
N248K |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,265,769 (GRCm39) |
I439T |
probably benign |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,443 (GRCm39) |
I158T |
possibly damaging |
Het |
| Grm3 |
T |
C |
5: 9,562,206 (GRCm39) |
D548G |
possibly damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,514 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,966,217 (GRCm39) |
|
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 120,992,389 (GRCm39) |
E113G |
probably damaging |
Het |
| Hspa4 |
C |
A |
11: 53,160,627 (GRCm39) |
R483L |
probably damaging |
Het |
| Ik |
C |
A |
18: 36,889,657 (GRCm39) |
S490R |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,072,035 (GRCm39) |
V86M |
possibly damaging |
Het |
| Mfsd4b1 |
A |
C |
10: 39,878,827 (GRCm39) |
F357V |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,821,813 (GRCm39) |
V54A |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,509,544 (GRCm39) |
I92T |
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,043,908 (GRCm39) |
S75P |
probably damaging |
Het |
| Oca2 |
T |
G |
7: 56,185,716 (GRCm39) |
M814R |
probably benign |
Het |
| Phlpp2 |
A |
G |
8: 110,662,249 (GRCm39) |
T879A |
probably benign |
Het |
| Potefam3e |
A |
G |
8: 19,799,463 (GRCm39) |
I304V |
probably benign |
Het |
| Rpe65 |
A |
T |
3: 159,321,214 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,930,333 (GRCm39) |
K230R |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,270,342 (GRCm39) |
T297A |
probably benign |
Het |
| Slpi |
T |
C |
2: 164,198,129 (GRCm39) |
T22A |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,784,280 (GRCm39) |
F286S |
probably damaging |
Het |
| Tektl1 |
A |
G |
10: 78,582,966 (GRCm39) |
C473R |
possibly damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,690 (GRCm39) |
I519K |
probably benign |
Het |
| Tyr |
G |
T |
7: 87,141,922 (GRCm39) |
L136I |
possibly damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,613,970 (GRCm39) |
M256K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,194,517 (GRCm39) |
C1258* |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation