Incidental Mutation 'R5686:Card6'
ID |
443385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Card6
|
Ensembl Gene |
ENSMUSG00000041849 |
Gene Name |
caspase recruitment domain family, member 6 |
Synonyms |
|
MMRRC Submission |
043319-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5686 (G1)
|
Quality Score |
106 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
5125463-5138021 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5130435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 320
(N320K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118365]
[ENSMUST00000141020]
|
AlphaFold |
E9PWH2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118365
AA Change: N320K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112833 Gene: ENSMUSG00000041849 AA Change: N320K
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: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (73/75) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
G |
13: 77,451,433 (GRCm39) |
E839G |
possibly damaging |
Het |
Adgrf3 |
T |
A |
5: 30,402,304 (GRCm39) |
T575S |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,021,926 (GRCm39) |
C1158S |
probably benign |
Het |
Arhgap39 |
A |
G |
15: 76,610,833 (GRCm39) |
F926L |
probably damaging |
Het |
BC035947 |
G |
T |
1: 78,474,567 (GRCm39) |
T655K |
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,248,730 (GRCm39) |
T64A |
probably benign |
Het |
Bltp1 |
T |
A |
3: 36,971,809 (GRCm39) |
F514Y |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,464,369 (GRCm39) |
K1378E |
probably benign |
Het |
Ccdc3 |
A |
T |
2: 5,142,871 (GRCm39) |
I43F |
probably damaging |
Het |
Cd200r1 |
T |
C |
16: 44,610,527 (GRCm39) |
S212P |
probably damaging |
Het |
Cdh8 |
T |
C |
8: 99,759,854 (GRCm39) |
I632V |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,357,803 (GRCm39) |
E477G |
probably damaging |
Het |
Cpne5 |
A |
T |
17: 29,402,991 (GRCm39) |
C215S |
possibly damaging |
Het |
Crim1 |
T |
A |
17: 78,681,512 (GRCm39) |
S989T |
possibly damaging |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,582,838 (GRCm39) |
N340K |
probably benign |
Het |
Eif4e2 |
G |
A |
1: 87,153,960 (GRCm39) |
|
probably null |
Het |
Ephb6 |
G |
T |
6: 41,596,638 (GRCm39) |
R895L |
possibly damaging |
Het |
Esrrg |
T |
A |
1: 187,882,395 (GRCm39) |
H217Q |
probably benign |
Het |
Fgl1 |
T |
A |
8: 41,653,594 (GRCm39) |
K100* |
probably null |
Het |
Flt4 |
T |
C |
11: 49,521,430 (GRCm39) |
V450A |
probably benign |
Het |
G6pc2 |
A |
T |
2: 69,051,128 (GRCm39) |
I74L |
probably benign |
Het |
Gabrr1 |
T |
C |
4: 33,161,684 (GRCm39) |
M336T |
probably damaging |
Het |
Gli1 |
T |
A |
10: 127,173,305 (GRCm39) |
T118S |
probably benign |
Het |
Gm5435 |
A |
T |
12: 82,542,800 (GRCm39) |
|
noncoding transcript |
Het |
Got1l1 |
A |
G |
8: 27,688,087 (GRCm39) |
L314P |
probably damaging |
Het |
Hk3 |
T |
A |
13: 55,154,626 (GRCm39) |
I740F |
probably damaging |
Het |
Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
Igsf9b |
A |
G |
9: 27,235,475 (GRCm39) |
T508A |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,297,936 (GRCm39) |
N431I |
probably benign |
Het |
Lax1 |
G |
A |
1: 133,607,914 (GRCm39) |
P276S |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,341,405 (GRCm39) |
V925E |
possibly damaging |
Het |
Lrp3 |
T |
A |
7: 34,902,910 (GRCm39) |
T479S |
possibly damaging |
Het |
Metrn |
G |
A |
17: 26,014,191 (GRCm39) |
R212C |
probably damaging |
Het |
Mlip |
A |
C |
9: 77,254,975 (GRCm39) |
|
probably null |
Het |
Mmp24 |
C |
T |
2: 155,641,697 (GRCm39) |
T175I |
probably damaging |
Het |
N6amt1 |
A |
T |
16: 87,151,223 (GRCm39) |
D28V |
probably damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,677 (GRCm39) |
Y120* |
probably null |
Het |
Or4f4b |
G |
A |
2: 111,314,488 (GRCm39) |
G238R |
probably damaging |
Het |
Or5p52 |
A |
G |
7: 107,502,119 (GRCm39) |
H65R |
probably damaging |
Het |
Or5p66 |
G |
T |
7: 107,885,949 (GRCm39) |
A128E |
probably damaging |
Het |
Or6d15 |
T |
C |
6: 116,559,890 (GRCm39) |
T6A |
probably benign |
Het |
Or8b12i |
T |
A |
9: 20,082,265 (GRCm39) |
I201F |
possibly damaging |
Het |
Pcdh17 |
T |
A |
14: 84,770,433 (GRCm39) |
N970K |
probably damaging |
Het |
Pdzrn3 |
T |
C |
6: 101,128,389 (GRCm39) |
Y759C |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,558,290 (GRCm39) |
L323P |
probably damaging |
Het |
Psg21 |
G |
T |
7: 18,386,183 (GRCm39) |
|
probably benign |
Het |
Rest |
T |
C |
5: 77,429,573 (GRCm39) |
V664A |
probably benign |
Het |
Sco2 |
G |
A |
15: 89,256,175 (GRCm39) |
R160* |
probably null |
Het |
Sfswap |
T |
A |
5: 129,591,882 (GRCm39) |
S300T |
probably damaging |
Het |
Slc5a10 |
A |
T |
11: 61,569,392 (GRCm39) |
M329K |
probably benign |
Het |
Slco1a5 |
G |
A |
6: 142,182,033 (GRCm39) |
P564S |
probably damaging |
Het |
Stk38 |
A |
G |
17: 29,201,103 (GRCm39) |
F191S |
probably damaging |
Het |
Svep1 |
T |
A |
4: 58,072,826 (GRCm39) |
Y2161F |
possibly damaging |
Het |
Tada2a |
G |
A |
11: 83,970,428 (GRCm39) |
T441M |
possibly damaging |
Het |
Tg |
T |
A |
15: 66,560,738 (GRCm39) |
N1033K |
probably benign |
Het |
Thoc3 |
A |
T |
13: 54,615,686 (GRCm39) |
I126N |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,925,967 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
T |
4: 63,927,032 (GRCm39) |
D831E |
possibly damaging |
Het |
Uhmk1 |
A |
T |
1: 170,038,787 (GRCm39) |
V100E |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,812,742 (GRCm39) |
|
probably benign |
Het |
Vmn2r90 |
A |
T |
17: 17,933,712 (GRCm39) |
Y424F |
probably benign |
Het |
Vps33a |
C |
T |
5: 123,685,064 (GRCm39) |
|
probably null |
Het |
Xirp2 |
A |
T |
2: 67,312,642 (GRCm39) |
K37I |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,363,988 (GRCm39) |
|
probably null |
Het |
Zfp748 |
A |
T |
13: 67,690,647 (GRCm39) |
C204* |
probably null |
Het |
Zfp998 |
T |
C |
13: 66,579,722 (GRCm39) |
R254G |
probably benign |
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 |
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'- AAAGCAGCAGTGGTACATATTTGAC -3'
(R):5'- CGAGGCAATAATGAGTCCTTTGTG -3'
Sequencing Primer
(F):5'- TCACGTTGCAAAGAGCTGTC -3'
(R):5'- AATGAGTCCTTTGTGCTTTACAGAG -3'
|
Posted On |
2016-11-09 |