Incidental Mutation 'R7677:Card6'
| ID |
592532 |
| 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 # |
R7677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
5125463-5138021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5127926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1157
(S1157P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118365]
|
| AlphaFold |
E9PWH2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000118365
AA Change: S1157P
|
| SMART Domains |
Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: S1157P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 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 |
|---|
| Abca13 |
A |
T |
11: 9,248,349 (GRCm39) |
R2699* |
probably null |
Het |
| Adra2a |
G |
A |
19: 54,035,375 (GRCm39) |
V244M |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,344,845 (GRCm39) |
S12G |
probably benign |
Het |
| Arhgap20 |
T |
A |
9: 51,751,698 (GRCm39) |
M383K |
probably damaging |
Het |
| Armc12 |
T |
C |
17: 28,756,865 (GRCm39) |
V210A |
probably benign |
Het |
| Ash1l |
A |
T |
3: 88,950,500 (GRCm39) |
H2131L |
probably damaging |
Het |
| Atg5 |
T |
C |
10: 44,223,035 (GRCm39) |
L219P |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,474,915 (GRCm39) |
M507L |
probably benign |
Het |
| Atr |
T |
A |
9: 95,767,515 (GRCm39) |
L1191I |
probably damaging |
Het |
| B4galt5 |
T |
C |
2: 167,146,998 (GRCm39) |
T279A |
probably damaging |
Het |
| Bglap2 |
T |
C |
3: 88,285,280 (GRCm39) |
E62G |
probably damaging |
Het |
| Ccdc17 |
T |
C |
4: 116,454,962 (GRCm39) |
|
probably null |
Het |
| Cdc6 |
T |
A |
11: 98,810,191 (GRCm39) |
L500* |
probably null |
Het |
| Dst |
G |
T |
1: 34,208,403 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
C |
T |
3: 84,811,373 (GRCm39) |
T166I |
|
Het |
| Fer1l6 |
T |
C |
15: 58,474,139 (GRCm39) |
V955A |
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,344,941 (GRCm38) |
E82G |
probably benign |
Het |
| Flii |
T |
C |
11: 60,610,971 (GRCm39) |
D486G |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,804,854 (GRCm39) |
T476A |
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,266,264 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
T |
C |
10: 18,421,547 (GRCm39) |
|
probably benign |
Het |
| Hhipl2 |
T |
A |
1: 183,204,951 (GRCm39) |
M88K |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,459,171 (GRCm39) |
C605R |
probably benign |
Het |
| Hoxd13 |
T |
C |
2: 74,498,909 (GRCm39) |
S86P |
probably benign |
Het |
| Hspa12a |
G |
T |
19: 58,849,317 (GRCm39) |
A2E |
probably benign |
Het |
| Il1rl1 |
A |
C |
1: 40,485,864 (GRCm39) |
*338C |
probably null |
Het |
| Lrrc37a |
G |
T |
11: 103,390,464 (GRCm39) |
P1654T |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,959,376 (GRCm39) |
D704V |
probably benign |
Het |
| Napsa |
A |
T |
7: 44,231,130 (GRCm39) |
K120* |
probably null |
Het |
| Nat3 |
A |
C |
8: 68,000,139 (GRCm39) |
Y6S |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,774,823 (GRCm39) |
Q180* |
probably null |
Het |
| Nynrin |
T |
A |
14: 56,107,693 (GRCm39) |
D933E |
probably benign |
Het |
| Or10al3 |
T |
A |
17: 38,011,957 (GRCm39) |
I132K |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,522,386 (GRCm39) |
Y119* |
probably null |
Het |
| Or2l5 |
G |
A |
16: 19,333,678 (GRCm39) |
A236V |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,614 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
| Or8c16 |
T |
A |
9: 38,130,324 (GRCm39) |
N65K |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,500,983 (GRCm39) |
T30I |
not run |
Het |
| Pbx1 |
A |
T |
1: 168,030,995 (GRCm39) |
F208I |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,144,605 (GRCm39) |
V232A |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,558,593 (GRCm39) |
Y605H |
possibly damaging |
Het |
| Pde3a |
T |
A |
6: 141,195,983 (GRCm39) |
L223Q |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,261,632 (GRCm39) |
R977C |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,699,788 (GRCm39) |
D2049E |
probably benign |
Het |
| Psmd6 |
T |
C |
14: 14,120,837 (GRCm38) |
D16G |
probably benign |
Het |
| Pth2r |
C |
A |
1: 65,427,605 (GRCm39) |
T426N |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,705,928 (GRCm39) |
L1865M |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,664,245 (GRCm39) |
Q1702L |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,446,176 (GRCm39) |
Y135C |
probably benign |
Het |
| Sdha |
G |
A |
13: 74,481,172 (GRCm39) |
R345* |
probably null |
Het |
| Selp |
A |
T |
1: 163,961,525 (GRCm39) |
S413C |
probably damaging |
Het |
| Sirt2 |
G |
A |
7: 28,484,835 (GRCm39) |
C221Y |
probably damaging |
Het |
| Skic2 |
A |
T |
17: 35,067,140 (GRCm39) |
S100T |
probably benign |
Het |
| Socs7 |
C |
A |
11: 97,280,468 (GRCm39) |
Q566K |
probably benign |
Het |
| Spdye4c |
G |
A |
2: 128,436,056 (GRCm39) |
V151M |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,158,980 (GRCm39) |
D2952G |
unknown |
Het |
| Srd5a2 |
A |
T |
17: 74,354,749 (GRCm39) |
L25Q |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,298,410 (GRCm39) |
V254D |
probably damaging |
Het |
| Tap2 |
T |
C |
17: 34,424,494 (GRCm39) |
F76L |
probably benign |
Het |
| Tdpoz4 |
T |
A |
3: 93,704,815 (GRCm39) |
*371R |
probably null |
Het |
| Tm9sf3 |
A |
T |
19: 41,209,743 (GRCm39) |
F441I |
probably damaging |
Het |
| Tmem259 |
C |
T |
10: 79,814,414 (GRCm39) |
R314Q |
probably damaging |
Het |
| Trim28 |
G |
T |
7: 12,762,040 (GRCm39) |
R312L |
possibly damaging |
Het |
| Tsc1 |
A |
G |
2: 28,562,829 (GRCm39) |
T393A |
probably benign |
Het |
| Txndc11 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 10,952,338 (GRCm39) |
|
probably benign |
Het |
| Ube2v2 |
T |
C |
16: 15,398,964 (GRCm39) |
T42A |
probably benign |
Het |
| Vmn2r-ps158 |
A |
C |
7: 42,674,163 (GRCm39) |
H414P |
probably damaging |
Het |
| Zfp609 |
A |
T |
9: 65,604,456 (GRCm39) |
S1342R |
possibly damaging |
Het |
| Zg16 |
A |
T |
7: 126,649,763 (GRCm39) |
V66E |
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 |
|
|
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'- CTGCTATGCACTTAAGACTTTGC -3'
(R):5'- ACAGTCCTCCCATGCTAAGC -3'
Sequencing Primer
(F):5'- TGGGAAGAATAGCTTAAGC -3'
(R):5'- TGCTAAGCCCTCTCATCCACAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation