Incidental Mutation 'R9771:Card6'
| ID |
733462 |
| 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 # |
R9771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
5125463-5138021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5129693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 568
(I568F)
|
| 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: I568F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: I568F
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
G |
3: 146,356,743 (GRCm39) |
I55T |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,310 (GRCm39) |
T866A |
probably benign |
Het |
| Alg12 |
A |
T |
15: 88,700,373 (GRCm39) |
V21E |
probably damaging |
Het |
| Bod1l |
C |
A |
5: 41,949,206 (GRCm39) |
R2972L |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,075,810 (GRCm39) |
T7A |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,573,517 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,855,031 (GRCm39) |
I297M |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,066,833 (GRCm39) |
E200G |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,537 (GRCm39) |
S1575P |
probably benign |
Het |
| Gm18596 |
A |
C |
10: 77,577,962 (GRCm39) |
S171A |
unknown |
Het |
| Gmip |
T |
A |
8: 70,266,718 (GRCm39) |
C278S |
probably benign |
Het |
| Gngt2 |
G |
T |
11: 95,728,124 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
G |
A |
10: 88,268,485 (GRCm39) |
D531N |
probably damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,719 (GRCm39) |
C726R |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,025,877 (GRCm39) |
I289T |
unknown |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nol11 |
C |
A |
11: 107,069,914 (GRCm39) |
W312L |
probably damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,060 (GRCm39) |
Y272N |
possibly damaging |
Het |
| Or1p1c |
G |
A |
11: 74,160,635 (GRCm39) |
R140H |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 114,896,356 (GRCm39) |
R30Q |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,423,771 (GRCm39) |
L878P |
possibly damaging |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,358,883 (GRCm39) |
H364R |
probably benign |
Het |
| Polr1f |
A |
G |
12: 33,487,828 (GRCm39) |
T248A |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,113,365 (GRCm39) |
I231T |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,872,903 (GRCm39) |
R263* |
probably null |
Het |
| Ptprq |
T |
A |
10: 107,521,085 (GRCm39) |
I696F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,082,624 (GRCm39) |
I1341F |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,613,207 (GRCm39) |
Y428C |
probably damaging |
Het |
| Sh3tc1 |
A |
C |
5: 35,873,654 (GRCm39) |
F217C |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,353 (GRCm39) |
T1788I |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,983,048 (GRCm39) |
P672L |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tada3 |
A |
C |
6: 113,349,319 (GRCm39) |
S244A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,925,600 (GRCm39) |
I979F |
probably damaging |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,657 (GRCm39) |
N73S |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,559 (GRCm39) |
E405G |
possibly damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,079 (GRCm39) |
H212R |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,000,195 (GRCm39) |
L3015P |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,206,851 (GRCm39) |
S255P |
probably damaging |
Het |
| Ypel3 |
T |
C |
7: 126,379,226 (GRCm39) |
Y100H |
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 |
|
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 |
|
|
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'- CAGGCCATATCTTCAAGGGACAC -3'
(R):5'- ATGCAGAGCTAACGGTGAGC -3'
Sequencing Primer
(F):5'- TGAGTGGAGACGACATTACTTCC -3'
(R):5'- GTGAGCCCACACGTTTTCCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation