Incidental Mutation 'R1818:Card11'
ID |
204587 |
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 |
039846-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1818 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 140871315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 729
(D729E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085786]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085786
AA Change: D729E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526 AA Change: D729E
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 |
0.0898 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.5%
- 20x: 90.4%
|
Validation Efficiency |
|
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 |
Aass |
T |
A |
6: 23,075,857 (GRCm39) |
|
probably null |
Het |
Adam6b |
T |
A |
12: 113,454,876 (GRCm39) |
N564K |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,864,461 (GRCm39) |
Y731C |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,331,725 (GRCm39) |
Y190H |
probably benign |
Het |
Ankmy1 |
T |
A |
1: 92,814,553 (GRCm39) |
D318V |
probably benign |
Het |
Ankrd33b |
G |
A |
15: 31,367,267 (GRCm39) |
A91V |
probably damaging |
Het |
Ap3b1 |
A |
G |
13: 94,608,212 (GRCm39) |
N561S |
possibly damaging |
Het |
Apob |
A |
G |
12: 8,056,834 (GRCm39) |
N1739S |
probably damaging |
Het |
Apob |
A |
G |
12: 8,063,064 (GRCm39) |
T236A |
possibly damaging |
Het |
Birc6 |
G |
A |
17: 74,956,844 (GRCm39) |
A3593T |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,210,111 (GRCm39) |
F778L |
possibly damaging |
Het |
Capn2 |
T |
A |
1: 182,300,162 (GRCm39) |
K609N |
probably benign |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ccl20 |
A |
G |
1: 83,095,529 (GRCm39) |
Y30C |
probably damaging |
Het |
Cd209a |
G |
A |
8: 3,795,576 (GRCm39) |
T106I |
probably damaging |
Het |
Cebpz |
A |
G |
17: 79,242,805 (GRCm39) |
L283P |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,708,228 (GRCm39) |
T77A |
probably damaging |
Het |
Clec4e |
T |
A |
6: 123,262,452 (GRCm39) |
D155V |
possibly damaging |
Het |
Col25a1 |
G |
A |
3: 130,379,386 (GRCm39) |
|
probably null |
Het |
Cyp2j11 |
A |
T |
4: 96,185,976 (GRCm39) |
V403D |
probably damaging |
Het |
Cyp4v3 |
G |
A |
8: 45,768,673 (GRCm39) |
R296C |
possibly damaging |
Het |
Ddx59 |
A |
G |
1: 136,360,245 (GRCm39) |
I420V |
probably damaging |
Het |
Denr |
T |
A |
5: 124,055,283 (GRCm39) |
D49E |
probably benign |
Het |
Dnaaf3 |
A |
T |
7: 4,526,568 (GRCm39) |
|
probably null |
Het |
Dnaaf3 |
G |
T |
7: 4,526,569 (GRCm39) |
L503M |
probably benign |
Het |
Dnah7a |
A |
C |
1: 53,598,307 (GRCm39) |
D1409E |
probably benign |
Het |
Dnai4 |
A |
G |
4: 102,929,854 (GRCm39) |
V56A |
possibly damaging |
Het |
Efcab3 |
T |
A |
11: 104,612,333 (GRCm39) |
L652Q |
probably benign |
Het |
Ehd4 |
C |
T |
2: 119,932,885 (GRCm39) |
W180* |
probably null |
Het |
Ephb2 |
A |
G |
4: 136,382,647 (GRCm39) |
S984P |
probably benign |
Het |
Eva1a |
T |
C |
6: 82,048,125 (GRCm39) |
M1T |
probably null |
Het |
Fam90a1a |
C |
G |
8: 22,453,787 (GRCm39) |
P381A |
possibly damaging |
Het |
Fam90a1a |
C |
A |
8: 22,453,788 (GRCm39) |
P381Q |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,457,447 (GRCm39) |
Y2382H |
probably damaging |
Het |
Flrt1 |
A |
T |
19: 7,072,711 (GRCm39) |
L612Q |
probably damaging |
Het |
Fubp1 |
T |
A |
3: 151,927,806 (GRCm39) |
N419K |
probably damaging |
Het |
Gin1 |
A |
G |
1: 97,712,951 (GRCm39) |
|
probably null |
Het |
Gm4847 |
T |
A |
1: 166,465,788 (GRCm39) |
H267L |
probably damaging |
Het |
Golga4 |
T |
G |
9: 118,402,055 (GRCm39) |
V91G |
probably damaging |
Het |
Hip1r |
T |
C |
5: 124,134,018 (GRCm39) |
|
probably null |
Het |
Ice2 |
A |
G |
9: 69,339,383 (GRCm39) |
S967G |
probably benign |
Het |
Il18rap |
A |
G |
1: 40,570,687 (GRCm39) |
I210V |
probably benign |
Het |
Impdh2 |
T |
G |
9: 108,440,411 (GRCm39) |
|
probably null |
Het |
Inmt |
C |
A |
6: 55,150,404 (GRCm39) |
V78F |
possibly damaging |
Het |
Inpp5e |
T |
C |
2: 26,287,886 (GRCm39) |
S637G |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,233,283 (GRCm39) |
H748R |
possibly damaging |
Het |
Kif28 |
T |
C |
1: 179,533,319 (GRCm39) |
K541E |
possibly damaging |
Het |
Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
Kifc2 |
T |
C |
15: 76,550,281 (GRCm39) |
V480A |
probably damaging |
Het |
Lrrc74a |
T |
C |
12: 86,784,484 (GRCm39) |
Y71H |
probably damaging |
Het |
Ly75 |
T |
G |
2: 60,142,121 (GRCm39) |
T1330P |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,270,210 (GRCm39) |
V6647A |
probably damaging |
Het |
Mgat1 |
T |
C |
11: 49,152,111 (GRCm39) |
I198T |
possibly damaging |
Het |
Morc3 |
A |
G |
16: 93,652,398 (GRCm39) |
Y367C |
probably damaging |
Het |
Mtfr1 |
A |
G |
3: 19,269,837 (GRCm39) |
T162A |
probably damaging |
Het |
Myrip |
C |
T |
9: 120,217,228 (GRCm39) |
S49L |
probably damaging |
Het |
Nup153 |
A |
T |
13: 46,835,113 (GRCm39) |
N1397K |
possibly damaging |
Het |
Or5h26 |
T |
C |
16: 58,988,243 (GRCm39) |
K88E |
probably benign |
Het |
Or6x1 |
T |
C |
9: 40,098,558 (GRCm39) |
V49A |
probably benign |
Het |
Or8b36 |
T |
C |
9: 37,937,803 (GRCm39) |
S234P |
probably damaging |
Het |
Or8g21 |
T |
C |
9: 38,905,902 (GRCm39) |
I276M |
possibly damaging |
Het |
Pabpc2 |
G |
T |
18: 39,907,163 (GRCm39) |
V143L |
probably damaging |
Het |
Pals2 |
T |
G |
6: 50,140,411 (GRCm39) |
F144V |
probably benign |
Het |
Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
Patj |
G |
A |
4: 98,511,885 (GRCm39) |
V144M |
possibly damaging |
Het |
Pde1c |
T |
A |
6: 56,103,877 (GRCm39) |
K651* |
probably null |
Het |
Pde4c |
A |
G |
8: 71,179,638 (GRCm39) |
H63R |
probably benign |
Het |
Pdha2 |
T |
A |
3: 140,916,960 (GRCm39) |
K183* |
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,375,038 (GRCm39) |
C1504S |
probably benign |
Het |
Plbd2 |
A |
T |
5: 120,625,574 (GRCm39) |
|
probably null |
Het |
Poteg |
G |
A |
8: 27,940,195 (GRCm39) |
W121* |
probably null |
Het |
Prf1 |
C |
A |
10: 61,138,762 (GRCm39) |
T240N |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,067,068 (GRCm39) |
Y1883H |
probably damaging |
Het |
Puf60 |
T |
C |
15: 75,943,323 (GRCm39) |
T322A |
possibly damaging |
Het |
Rev3l |
A |
G |
10: 39,704,420 (GRCm39) |
I281M |
probably benign |
Het |
Rufy1 |
T |
C |
11: 50,305,399 (GRCm39) |
I305V |
probably benign |
Het |
Shisa9 |
A |
C |
16: 12,085,426 (GRCm39) |
Q329P |
probably damaging |
Het |
Siglech |
G |
A |
7: 55,418,332 (GRCm39) |
R100Q |
probably damaging |
Het |
Slc13a5 |
T |
A |
11: 72,144,169 (GRCm39) |
Y303F |
probably benign |
Het |
Snx6 |
C |
T |
12: 54,830,259 (GRCm39) |
V67I |
possibly damaging |
Het |
Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
Tecpr2 |
A |
G |
12: 110,892,888 (GRCm39) |
Y310C |
probably damaging |
Het |
Top1 |
T |
A |
2: 160,557,643 (GRCm39) |
L575Q |
probably damaging |
Het |
Usp16 |
C |
T |
16: 87,276,020 (GRCm39) |
R452* |
probably null |
Het |
Utrn |
A |
G |
10: 12,585,708 (GRCm39) |
|
probably null |
Het |
Vps13b |
G |
A |
15: 35,877,723 (GRCm39) |
G2899E |
probably benign |
Het |
Wipi2 |
T |
A |
5: 142,643,963 (GRCm39) |
L115Q |
probably damaging |
Het |
Zbtb7c |
A |
C |
18: 76,270,596 (GRCm39) |
E228A |
probably damaging |
Het |
Zfp26 |
T |
C |
9: 20,353,487 (GRCm39) |
T101A |
probably benign |
Het |
Zfp593 |
A |
T |
4: 133,972,394 (GRCm39) |
|
probably null |
Het |
Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
Zfp948 |
G |
A |
17: 21,805,069 (GRCm39) |
V20M |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,945,293 (GRCm39) |
|
probably null |
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 |
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 |
R5011:Card11
|
UTSW |
5 |
140,862,275 (GRCm39) |
missense |
possibly damaging |
0.93 |
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'- GACCCGGAGCATCTTCAAAC -3'
(R):5'- TAGAGACACATGCAGCCCAG -3'
Sequencing Primer
(F):5'- TGAGATGCGGCTCAACTCTCATG -3'
(R):5'- CTGATGATGGATGCTCCA -3'
|
Posted On |
2014-06-23 |