Incidental Mutation 'R1733:Card11'
ID |
199475 |
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 |
039765-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1733 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 140892388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 226
(Q226K)
|
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: Q226K
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526 AA Change: Q226K
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 |
|
Meta Mutation Damage Score |
0.1799 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 91.9%
|
Validation Efficiency |
95% (95/100) |
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 |
Adamts19 |
T |
G |
18: 59,165,001 (GRCm39) |
C1034W |
probably damaging |
Het |
Agbl2 |
G |
T |
2: 90,641,089 (GRCm39) |
K737N |
probably damaging |
Het |
Aqp9 |
T |
A |
9: 71,019,624 (GRCm39) |
I279F |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,384,855 (GRCm39) |
N166K |
probably benign |
Het |
Atp13a3 |
A |
T |
16: 30,176,084 (GRCm39) |
I186N |
probably benign |
Het |
Btaf1 |
A |
T |
19: 36,972,362 (GRCm39) |
I1366L |
probably benign |
Het |
Camk4 |
A |
C |
18: 33,211,074 (GRCm39) |
K60Q |
possibly damaging |
Het |
Ccdc187 |
T |
C |
2: 26,183,670 (GRCm39) |
D110G |
possibly damaging |
Het |
Col5a2 |
C |
T |
1: 45,446,192 (GRCm39) |
R462Q |
possibly damaging |
Het |
Cp |
A |
T |
3: 20,022,383 (GRCm39) |
|
probably benign |
Het |
Cpz |
A |
T |
5: 35,675,102 (GRCm39) |
V38E |
probably damaging |
Het |
Cxcr6 |
G |
A |
9: 123,639,181 (GRCm39) |
V68I |
probably damaging |
Het |
Cyp2a22 |
C |
A |
7: 26,634,187 (GRCm39) |
E322D |
possibly damaging |
Het |
D130052B06Rik |
C |
T |
11: 33,573,784 (GRCm39) |
T127I |
probably benign |
Het |
Daam2 |
T |
A |
17: 49,797,231 (GRCm39) |
M185L |
possibly damaging |
Het |
Dnaja3 |
G |
A |
16: 4,502,029 (GRCm39) |
R11K |
probably null |
Het |
Dnttip2 |
T |
A |
3: 122,070,397 (GRCm39) |
S537R |
probably benign |
Het |
Dock9 |
G |
T |
14: 121,864,292 (GRCm39) |
H572Q |
probably benign |
Het |
Dpp4 |
T |
A |
2: 62,203,213 (GRCm39) |
|
probably null |
Het |
Enc1 |
T |
G |
13: 97,381,550 (GRCm39) |
I20S |
possibly damaging |
Het |
Ephb6 |
T |
A |
6: 41,596,654 (GRCm39) |
H900Q |
probably benign |
Het |
Ercc3 |
T |
C |
18: 32,400,218 (GRCm39) |
V690A |
possibly damaging |
Het |
Fam90a1a |
C |
T |
8: 22,453,385 (GRCm39) |
Q247* |
probably null |
Het |
Fkbp10 |
G |
A |
11: 100,314,757 (GRCm39) |
R423H |
probably benign |
Het |
Fus |
A |
G |
7: 127,580,717 (GRCm39) |
M265V |
probably benign |
Het |
Gas2l3 |
T |
A |
10: 89,250,127 (GRCm39) |
K330N |
probably damaging |
Het |
Gpam |
T |
G |
19: 55,069,901 (GRCm39) |
L410F |
probably damaging |
Het |
Gpr37l1 |
A |
T |
1: 135,089,273 (GRCm39) |
V264E |
possibly damaging |
Het |
Grk6 |
A |
T |
13: 55,600,979 (GRCm39) |
|
probably benign |
Het |
Gsto1 |
G |
T |
19: 47,843,674 (GRCm39) |
V19F |
probably damaging |
Het |
H1f7 |
G |
T |
15: 98,154,016 (GRCm39) |
Q378K |
unknown |
Het |
Hgfac |
G |
A |
5: 35,201,018 (GRCm39) |
C194Y |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,311,407 (GRCm39) |
N1216D |
probably damaging |
Het |
Hrg |
C |
T |
16: 22,769,997 (GRCm39) |
A42V |
probably damaging |
Het |
Irx4 |
A |
G |
13: 73,414,824 (GRCm39) |
D136G |
probably benign |
Het |
Kcnn3 |
G |
T |
3: 89,559,397 (GRCm39) |
V556L |
probably benign |
Het |
Klk1b8 |
T |
C |
7: 43,451,545 (GRCm39) |
Y179H |
possibly damaging |
Het |
Klrb1f |
T |
A |
6: 129,031,322 (GRCm39) |
L173* |
probably null |
Het |
Kremen2 |
A |
T |
17: 23,962,373 (GRCm39) |
|
probably null |
Het |
Krt25 |
A |
T |
11: 99,207,378 (GRCm39) |
Y400* |
probably null |
Het |
Lingo4 |
A |
T |
3: 94,310,485 (GRCm39) |
R474S |
probably benign |
Het |
Lnpep |
T |
C |
17: 17,773,575 (GRCm39) |
K599E |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,155,824 (GRCm39) |
M2K |
possibly damaging |
Het |
Mat2b |
A |
T |
11: 40,570,904 (GRCm39) |
S307T |
probably benign |
Het |
Mcph1 |
C |
A |
8: 18,681,979 (GRCm39) |
A372D |
probably benign |
Het |
Mfsd6 |
T |
A |
1: 52,748,524 (GRCm39) |
I114F |
probably damaging |
Het |
Mlkl |
A |
G |
8: 112,049,380 (GRCm39) |
S248P |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,954,085 (GRCm39) |
T789S |
probably benign |
Het |
Mphosph8 |
A |
G |
14: 56,930,916 (GRCm39) |
Y735C |
probably damaging |
Het |
Mrc1 |
T |
A |
2: 14,261,910 (GRCm39) |
Y300N |
probably damaging |
Het |
Mrps11 |
A |
G |
7: 78,442,460 (GRCm39) |
H180R |
probably damaging |
Het |
Msh4 |
T |
C |
3: 153,573,404 (GRCm39) |
D556G |
probably damaging |
Het |
Myh10 |
C |
A |
11: 68,693,122 (GRCm39) |
D1472E |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,492,283 (GRCm39) |
S742P |
probably damaging |
Het |
Nlrp5-ps |
C |
T |
7: 14,316,978 (GRCm39) |
|
noncoding transcript |
Het |
Nrp1 |
C |
T |
8: 129,194,974 (GRCm39) |
P477S |
probably benign |
Het |
Oplah |
G |
T |
15: 76,186,683 (GRCm39) |
C665* |
probably null |
Het |
Or4f14b |
T |
A |
2: 111,775,625 (GRCm39) |
M59L |
probably benign |
Het |
Or4f54 |
T |
C |
2: 111,123,210 (GRCm39) |
V199A |
probably damaging |
Het |
Or51b17 |
T |
C |
7: 103,542,118 (GRCm39) |
S275G |
probably benign |
Het |
Or8g22 |
G |
T |
9: 38,958,678 (GRCm39) |
H57N |
unknown |
Het |
Otogl |
T |
C |
10: 107,619,573 (GRCm39) |
T1696A |
possibly damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,299,855 (GRCm39) |
I242V |
probably benign |
Het |
Phgdh |
G |
A |
3: 98,235,451 (GRCm39) |
T141I |
probably benign |
Het |
Pigv |
T |
C |
4: 133,392,237 (GRCm39) |
Y311C |
probably damaging |
Het |
Pik3c2a |
T |
G |
7: 116,017,755 (GRCm39) |
M1L |
possibly damaging |
Het |
Pitpnm1 |
A |
T |
19: 4,159,960 (GRCm39) |
K760* |
probably null |
Het |
Pnrc1 |
G |
A |
4: 33,246,438 (GRCm39) |
H174Y |
probably damaging |
Het |
Ptgis |
A |
G |
2: 167,033,888 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,643,773 (GRCm39) |
|
probably null |
Het |
Rin3 |
T |
A |
12: 102,335,589 (GRCm39) |
L420* |
probably null |
Het |
Sacs |
T |
G |
14: 61,442,903 (GRCm39) |
F1650V |
probably damaging |
Het |
Sbno2 |
T |
A |
10: 79,894,342 (GRCm39) |
N1081Y |
possibly damaging |
Het |
Sema5b |
C |
T |
16: 35,466,737 (GRCm39) |
P213L |
probably damaging |
Het |
Sharpin |
T |
C |
15: 76,232,136 (GRCm39) |
K240R |
probably benign |
Het |
Skint6 |
T |
A |
4: 113,034,234 (GRCm39) |
|
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,634,565 (GRCm39) |
E68G |
probably damaging |
Het |
Srcin1 |
C |
T |
11: 97,424,327 (GRCm39) |
V634I |
probably benign |
Het |
Srsf10 |
T |
A |
4: 135,590,476 (GRCm39) |
F134I |
possibly damaging |
Het |
Stab1 |
C |
A |
14: 30,867,260 (GRCm39) |
G1700V |
probably damaging |
Het |
Sun1 |
T |
G |
5: 139,216,544 (GRCm39) |
C290W |
possibly damaging |
Het |
Svs6 |
T |
A |
2: 164,159,577 (GRCm39) |
|
probably benign |
Het |
Tmem8b |
G |
A |
4: 43,690,228 (GRCm39) |
|
probably null |
Het |
Usp49 |
A |
G |
17: 47,983,238 (GRCm39) |
D81G |
probably damaging |
Het |
Vmn1r215 |
T |
A |
13: 23,260,848 (GRCm39) |
V296D |
probably benign |
Het |
Vmn1r6 |
T |
A |
6: 56,979,607 (GRCm39) |
S90T |
probably damaging |
Het |
Wbp2 |
A |
G |
11: 115,974,709 (GRCm39) |
F42L |
probably benign |
Het |
Wdr20rt |
C |
T |
12: 65,274,055 (GRCm39) |
T333I |
possibly damaging |
Het |
Zfp341 |
C |
T |
2: 154,483,298 (GRCm39) |
A552V |
probably benign |
Het |
Zfp607b |
A |
T |
7: 27,391,949 (GRCm39) |
H8L |
possibly damaging |
Het |
Zfp758 |
G |
T |
17: 22,594,830 (GRCm39) |
D439Y |
probably damaging |
Het |
Zfp946 |
T |
C |
17: 22,672,538 (GRCm39) |
Y46H |
probably damaging |
Het |
Zic2 |
G |
A |
14: 122,716,359 (GRCm39) |
E432K |
probably damaging |
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 |
|
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 |
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'- AGGTCCCCTAACTTTCCATGAGCC -3'
(R):5'- GCCTCACACACTTCCTGATGAACG -3'
Sequencing Primer
(F):5'- AGGTCCCCTAACTTCCCATGAG -3'
(R):5'- ACTTCCTGATGAACGAGGTC -3'
|
Posted On |
2014-05-23 |