Incidental Mutation 'R5011:Card11'
ID |
446654 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Card11
|
Ensembl Gene |
ENSMUSG00000036526 |
Gene Name |
caspase recruitment domain family, member 11 |
Synonyms |
2410011D02Rik, BIMP3, CARMA1, 0610008L17Rik |
MMRRC Submission |
042602-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5011 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 140862275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1007
(D1007E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085786]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085786
AA Change: D1007E
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526 AA Change: D1007E
Domain | Start | End | E-Value | Type |
Pfam:CARD
|
23 |
109 |
1.3e-23 |
PFAM |
coiled coil region
|
176 |
440 |
N/A |
INTRINSIC |
low complexity region
|
475 |
487 |
N/A |
INTRINSIC |
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
low complexity region
|
615 |
625 |
N/A |
INTRINSIC |
PDZ
|
674 |
755 |
2.73e-1 |
SMART |
Blast:SH3
|
776 |
838 |
1e-10 |
BLAST |
low complexity region
|
839 |
850 |
N/A |
INTRINSIC |
low complexity region
|
920 |
934 |
N/A |
INTRINSIC |
SCOP:d1kjwa2
|
970 |
1149 |
1e-18 |
SMART |
Blast:GuKc
|
973 |
1139 |
1e-102 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196169
|
Meta Mutation Damage Score |
0.1440 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
100% (104/104) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted null mutation exhibit defects in antigen receptor signalling in both T and B lymphocytes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810010H24Rik |
T |
C |
11: 106,919,324 (GRCm39) |
V223A |
probably damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Ahctf1 |
A |
T |
1: 179,611,675 (GRCm39) |
I565N |
possibly damaging |
Het |
Ank1 |
C |
T |
8: 23,572,300 (GRCm39) |
T70I |
probably damaging |
Het |
Atg16l1 |
C |
A |
1: 87,701,902 (GRCm39) |
S248* |
probably null |
Het |
Atp13a5 |
A |
T |
16: 29,169,566 (GRCm39) |
L42Q |
probably damaging |
Het |
Atxn1 |
T |
C |
13: 45,710,545 (GRCm39) |
N796D |
probably damaging |
Het |
C3 |
T |
A |
17: 57,530,236 (GRCm39) |
Y455F |
probably benign |
Het |
Cbr2 |
T |
C |
11: 120,621,697 (GRCm39) |
D60G |
possibly damaging |
Het |
Cgn |
T |
A |
3: 94,683,455 (GRCm39) |
E400V |
probably null |
Het |
Chil3 |
T |
A |
3: 106,057,477 (GRCm39) |
Y229F |
possibly damaging |
Het |
Clcn2 |
G |
A |
16: 20,525,965 (GRCm39) |
P785S |
probably damaging |
Het |
Clk1 |
T |
C |
1: 58,453,642 (GRCm39) |
I315V |
probably benign |
Het |
Cops6 |
A |
G |
5: 138,160,459 (GRCm39) |
D102G |
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,513,983 (GRCm39) |
I743T |
possibly damaging |
Het |
Dnaaf5 |
T |
A |
5: 139,149,012 (GRCm39) |
L437Q |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,431,326 (GRCm39) |
D381E |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Draxin |
C |
A |
4: 148,192,436 (GRCm39) |
R292L |
probably damaging |
Het |
Dst |
T |
C |
1: 34,289,728 (GRCm39) |
V5776A |
probably damaging |
Het |
Eddm13 |
G |
A |
7: 6,269,332 (GRCm39) |
|
probably benign |
Het |
Ercc4 |
G |
A |
16: 12,941,445 (GRCm39) |
|
probably benign |
Het |
Eya1 |
T |
A |
1: 14,254,582 (GRCm39) |
N417Y |
probably damaging |
Het |
Fam149b |
T |
A |
14: 20,413,439 (GRCm39) |
H219Q |
possibly damaging |
Het |
Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,484,300 (GRCm39) |
|
probably null |
Het |
Fbxl18 |
A |
G |
5: 142,872,435 (GRCm39) |
S267P |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,873,135 (GRCm39) |
Y1315C |
probably damaging |
Het |
Fgd2 |
T |
C |
17: 29,593,954 (GRCm39) |
|
probably null |
Het |
Gm7251 |
T |
A |
13: 49,958,656 (GRCm39) |
|
noncoding transcript |
Het |
Golt1a |
T |
C |
1: 133,248,006 (GRCm39) |
V78A |
probably damaging |
Het |
Gsn |
T |
A |
2: 35,188,933 (GRCm39) |
Y440N |
probably damaging |
Het |
Gtf2ird2 |
G |
T |
5: 134,245,824 (GRCm39) |
S694I |
possibly damaging |
Het |
H2-Ob |
T |
A |
17: 34,460,253 (GRCm39) |
|
probably null |
Het |
Hsp90b1 |
T |
C |
10: 86,532,617 (GRCm39) |
D353G |
probably benign |
Het |
Ilk |
A |
G |
7: 105,391,456 (GRCm39) |
D374G |
probably damaging |
Het |
Invs |
G |
A |
4: 48,421,807 (GRCm39) |
R813Q |
probably damaging |
Het |
Itga7 |
G |
A |
10: 128,785,316 (GRCm39) |
V836M |
possibly damaging |
Het |
Itln1 |
T |
A |
1: 171,360,958 (GRCm39) |
K45* |
probably null |
Het |
Ivd |
A |
G |
2: 118,710,946 (GRCm39) |
Y385C |
probably damaging |
Het |
Ivns1abp |
T |
A |
1: 151,238,953 (GRCm39) |
M589K |
possibly damaging |
Het |
Jakmip3 |
C |
T |
7: 138,621,951 (GRCm39) |
R284W |
probably damaging |
Het |
Kank3 |
T |
C |
17: 34,041,044 (GRCm39) |
L512P |
probably damaging |
Het |
Kcnn2 |
T |
A |
18: 45,818,352 (GRCm39) |
I483N |
possibly damaging |
Het |
Klk1b4 |
A |
G |
7: 43,860,492 (GRCm39) |
N170S |
probably benign |
Het |
Klk1b9 |
A |
C |
7: 43,445,419 (GRCm39) |
D203A |
probably damaging |
Het |
Lbr |
A |
T |
1: 181,647,453 (GRCm39) |
Y199* |
probably null |
Het |
Lcn6 |
T |
A |
2: 25,567,082 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
T |
C |
10: 103,025,784 (GRCm39) |
D946G |
probably damaging |
Het |
Ltbp1 |
T |
A |
17: 75,373,152 (GRCm39) |
L265H |
probably damaging |
Het |
Maml3 |
A |
T |
3: 51,598,196 (GRCm39) |
N183K |
possibly damaging |
Het |
Mprip |
T |
C |
11: 59,650,721 (GRCm39) |
V1475A |
possibly damaging |
Het |
Myh4 |
C |
A |
11: 67,147,189 (GRCm39) |
S1611R |
probably benign |
Het |
Nagpa |
A |
T |
16: 5,013,743 (GRCm39) |
M365K |
probably benign |
Het |
Nckap5l |
G |
T |
15: 99,324,457 (GRCm39) |
P682Q |
probably benign |
Het |
Nudt12 |
T |
C |
17: 59,303,499 (GRCm39) |
|
probably benign |
Het |
Nup153 |
T |
C |
13: 46,840,879 (GRCm39) |
T910A |
possibly damaging |
Het |
Or1e31 |
T |
A |
11: 73,690,473 (GRCm39) |
T37S |
possibly damaging |
Het |
Or5ae2 |
T |
C |
7: 84,505,646 (GRCm39) |
V23A |
probably damaging |
Het |
Or7c74 |
A |
G |
2: 37,160,937 (GRCm39) |
|
noncoding transcript |
Het |
Or8k53 |
A |
T |
2: 86,177,647 (GRCm39) |
F154L |
probably benign |
Het |
Pate14 |
T |
C |
9: 36,549,120 (GRCm39) |
N47D |
probably benign |
Het |
Pbx2 |
T |
A |
17: 34,813,673 (GRCm39) |
C224* |
probably null |
Het |
Pcdha6 |
A |
G |
18: 37,100,960 (GRCm39) |
D51G |
probably damaging |
Het |
Pnpla1 |
C |
T |
17: 29,104,558 (GRCm39) |
T538I |
possibly damaging |
Het |
Pnpla2 |
T |
C |
7: 141,039,204 (GRCm39) |
|
probably null |
Het |
Psme2b |
C |
T |
11: 48,836,654 (GRCm39) |
E98K |
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,297,717 (GRCm39) |
S375T |
probably benign |
Het |
Rimbp2 |
T |
C |
5: 128,880,985 (GRCm39) |
Y134C |
probably damaging |
Het |
Ryr1 |
G |
A |
7: 28,802,234 (GRCm39) |
|
probably null |
Het |
Sh3tc1 |
G |
T |
5: 35,857,633 (GRCm39) |
A1185D |
probably damaging |
Het |
Sin3b |
G |
A |
8: 73,471,184 (GRCm39) |
S377N |
probably benign |
Het |
Slc28a2 |
T |
C |
2: 122,288,371 (GRCm39) |
M554T |
possibly damaging |
Het |
Snhg11 |
T |
C |
2: 158,218,872 (GRCm39) |
|
probably benign |
Het |
Spink5 |
A |
T |
18: 44,139,479 (GRCm39) |
N614I |
probably damaging |
Het |
Tert |
T |
C |
13: 73,794,428 (GRCm39) |
|
probably null |
Het |
Thap4 |
T |
C |
1: 93,677,598 (GRCm39) |
Y396C |
probably damaging |
Het |
Tle2 |
T |
C |
10: 81,420,531 (GRCm39) |
L348P |
probably damaging |
Het |
Tmem104 |
T |
C |
11: 115,134,312 (GRCm39) |
S283P |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,953,949 (GRCm39) |
E602G |
possibly damaging |
Het |
Tpm4 |
A |
G |
8: 72,900,938 (GRCm39) |
K190R |
probably benign |
Het |
Ttf2 |
T |
C |
3: 100,870,485 (GRCm39) |
E196G |
probably benign |
Het |
Ugt3a1 |
T |
C |
15: 9,365,373 (GRCm39) |
W329R |
probably damaging |
Het |
Unc13a |
G |
A |
8: 72,094,121 (GRCm39) |
Q1327* |
probably null |
Het |
Vmn1r194 |
C |
T |
13: 22,429,058 (GRCm39) |
T225I |
probably benign |
Het |
Vmn1r215 |
T |
C |
13: 23,260,721 (GRCm39) |
S254P |
probably damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,775,451 (GRCm39) |
E92G |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,987,809 (GRCm39) |
M625V |
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,341,015 (GRCm39) |
W1832R |
probably damaging |
Het |
Zfp189 |
G |
A |
4: 49,530,438 (GRCm39) |
G514S |
probably damaging |
Het |
Zfp768 |
T |
C |
7: 126,942,875 (GRCm39) |
R418G |
probably damaging |
Het |
Zmynd11 |
C |
T |
13: 9,739,479 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Card11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
unmodulated
|
APN |
5 |
140,897,997 (GRCm38) |
intron |
probably benign |
|
IGL00961:Card11
|
APN |
5 |
140,885,464 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01645:Card11
|
APN |
5 |
140,863,778 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01731:Card11
|
APN |
5 |
140,868,057 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01782:Card11
|
APN |
5 |
140,913,481 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
IGL01935:Card11
|
APN |
5 |
140,869,301 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01991:Card11
|
APN |
5 |
140,899,133 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02447:Card11
|
APN |
5 |
140,892,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02583:Card11
|
APN |
5 |
140,863,881 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03255:Card11
|
APN |
5 |
140,884,086 (GRCm39) |
missense |
possibly damaging |
0.73 |
Ace
|
UTSW |
5 |
140,888,632 (GRCm39) |
missense |
possibly damaging |
0.70 |
Caravaggio
|
UTSW |
5 |
140,899,064 (GRCm39) |
missense |
probably damaging |
1.00 |
Dealer
|
UTSW |
5 |
140,871,632 (GRCm39) |
missense |
probably damaging |
1.00 |
Dogs
|
UTSW |
5 |
140,867,755 (GRCm39) |
critical splice donor site |
probably null |
|
Face
|
UTSW |
5 |
140,886,732 (GRCm39) |
missense |
probably damaging |
1.00 |
hubei
|
UTSW |
5 |
140,892,522 (GRCm39) |
missense |
probably damaging |
0.96 |
king
|
UTSW |
5 |
140,876,835 (GRCm39) |
splice site |
probably benign |
|
may
|
UTSW |
5 |
140,862,250 (GRCm39) |
nonsense |
probably null |
|
Poker
|
UTSW |
5 |
140,863,837 (GRCm39) |
missense |
probably benign |
|
Sharp
|
UTSW |
5 |
140,862,180 (GRCm39) |
missense |
possibly damaging |
0.93 |
Tumnus
|
UTSW |
5 |
140,871,700 (GRCm39) |
missense |
possibly damaging |
0.75 |
unmodulated2
|
UTSW |
5 |
140,869,537 (GRCm39) |
splice site |
probably null |
|
PIT4243001:Card11
|
UTSW |
5 |
140,894,359 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4486001:Card11
|
UTSW |
5 |
140,862,163 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4531001:Card11
|
UTSW |
5 |
140,892,415 (GRCm39) |
missense |
probably damaging |
0.99 |
R0046:Card11
|
UTSW |
5 |
140,894,279 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0285:Card11
|
UTSW |
5 |
140,872,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R0452:Card11
|
UTSW |
5 |
140,866,125 (GRCm39) |
missense |
probably benign |
0.01 |
R1486:Card11
|
UTSW |
5 |
140,862,274 (GRCm39) |
missense |
probably benign |
|
R1710:Card11
|
UTSW |
5 |
140,888,660 (GRCm39) |
nonsense |
probably null |
|
R1733:Card11
|
UTSW |
5 |
140,892,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1817:Card11
|
UTSW |
5 |
140,871,315 (GRCm39) |
missense |
probably benign |
0.00 |
R1818:Card11
|
UTSW |
5 |
140,871,315 (GRCm39) |
missense |
probably benign |
0.00 |
R2027:Card11
|
UTSW |
5 |
140,892,522 (GRCm39) |
missense |
probably damaging |
0.96 |
R2436:Card11
|
UTSW |
5 |
140,868,117 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2904:Card11
|
UTSW |
5 |
140,874,888 (GRCm39) |
missense |
probably benign |
0.09 |
R3706:Card11
|
UTSW |
5 |
140,872,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R3708:Card11
|
UTSW |
5 |
140,872,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R4778:Card11
|
UTSW |
5 |
140,869,537 (GRCm39) |
splice site |
probably null |
|
R4877:Card11
|
UTSW |
5 |
140,871,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R4889:Card11
|
UTSW |
5 |
140,871,700 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4910:Card11
|
UTSW |
5 |
140,860,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5257:Card11
|
UTSW |
5 |
140,862,180 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5258:Card11
|
UTSW |
5 |
140,862,180 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5682:Card11
|
UTSW |
5 |
140,888,666 (GRCm39) |
nonsense |
probably null |
|
R5754:Card11
|
UTSW |
5 |
140,885,524 (GRCm39) |
missense |
probably damaging |
0.99 |
R5873:Card11
|
UTSW |
5 |
140,894,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R6184:Card11
|
UTSW |
5 |
140,884,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R6792:Card11
|
UTSW |
5 |
140,899,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R6825:Card11
|
UTSW |
5 |
140,863,837 (GRCm39) |
missense |
probably benign |
|
R7008:Card11
|
UTSW |
5 |
140,859,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R7291:Card11
|
UTSW |
5 |
140,886,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R7376:Card11
|
UTSW |
5 |
140,883,993 (GRCm39) |
missense |
probably benign |
0.01 |
R7526:Card11
|
UTSW |
5 |
140,899,184 (GRCm39) |
splice site |
probably null |
|
R7683:Card11
|
UTSW |
5 |
140,881,781 (GRCm39) |
missense |
probably benign |
|
R7730:Card11
|
UTSW |
5 |
140,871,751 (GRCm39) |
missense |
probably damaging |
0.96 |
R7813:Card11
|
UTSW |
5 |
140,885,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Card11
|
UTSW |
5 |
140,859,167 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7911:Card11
|
UTSW |
5 |
140,867,755 (GRCm39) |
critical splice donor site |
probably null |
|
R8154:Card11
|
UTSW |
5 |
140,886,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R8224:Card11
|
UTSW |
5 |
140,888,632 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8272:Card11
|
UTSW |
5 |
140,875,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R8714:Card11
|
UTSW |
5 |
140,899,147 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8715:Card11
|
UTSW |
5 |
140,871,315 (GRCm39) |
missense |
probably benign |
0.00 |
R9065:Card11
|
UTSW |
5 |
140,894,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9211:Card11
|
UTSW |
5 |
140,869,375 (GRCm39) |
missense |
probably benign |
0.16 |
R9215:Card11
|
UTSW |
5 |
140,866,154 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9269:Card11
|
UTSW |
5 |
140,892,516 (GRCm39) |
missense |
probably damaging |
0.99 |
R9385:Card11
|
UTSW |
5 |
140,871,276 (GRCm39) |
missense |
probably benign |
0.44 |
R9421:Card11
|
UTSW |
5 |
140,869,462 (GRCm39) |
missense |
probably damaging |
0.97 |
R9424:Card11
|
UTSW |
5 |
140,894,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R9444:Card11
|
UTSW |
5 |
140,894,393 (GRCm39) |
missense |
probably damaging |
1.00 |
V7732:Card11
|
UTSW |
5 |
140,862,250 (GRCm39) |
nonsense |
probably null |
|
X0067:Card11
|
UTSW |
5 |
140,871,347 (GRCm39) |
missense |
possibly damaging |
0.60 |
Z1177:Card11
|
UTSW |
5 |
140,883,996 (GRCm39) |
missense |
probably benign |
0.43 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTCACAGAGATGGTTGG -3'
(R):5'- TCCAAGTGTTTACGGAGCCC -3'
Sequencing Primer
(F):5'- CCTCACAGAGATGGTTGGGTAGG -3'
(R):5'- TCTGGCAGAGCAATCATGAACTTG -3'
|
Posted On |
2016-12-08 |