Incidental Mutation 'R1817:Card11'
| ID |
204486 |
| 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 |
039845-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1817 (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 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: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 91.9%
|
| Validation Efficiency |
95% (90/95) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,110,144 (GRCm39) |
S600T |
probably benign |
Het |
| Acly |
T |
A |
11: 100,386,717 (GRCm39) |
Q615L |
probably benign |
Het |
| Adgrf1 |
C |
A |
17: 43,620,924 (GRCm39) |
T387K |
probably benign |
Het |
| Afg3l1 |
G |
T |
8: 124,228,670 (GRCm39) |
K745N |
probably damaging |
Het |
| Armc8 |
T |
C |
9: 99,418,312 (GRCm39) |
T39A |
possibly damaging |
Het |
| Atm |
C |
A |
9: 53,403,533 (GRCm39) |
|
probably benign |
Het |
| Babam2 |
A |
G |
5: 32,214,890 (GRCm39) |
T324A |
probably damaging |
Het |
| Btd |
C |
A |
14: 31,384,246 (GRCm39) |
D77E |
possibly damaging |
Het |
| Cadm1 |
T |
A |
9: 47,740,668 (GRCm39) |
|
probably benign |
Het |
| Ccni |
G |
T |
5: 93,335,967 (GRCm39) |
T144K |
possibly damaging |
Het |
| Ceacam23 |
C |
T |
7: 17,607,255 (GRCm39) |
|
noncoding transcript |
Het |
| Cecr2 |
A |
G |
6: 120,708,228 (GRCm39) |
T77A |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,341,593 (GRCm39) |
|
probably null |
Het |
| Cpsf7 |
T |
C |
19: 10,512,803 (GRCm39) |
F296L |
possibly damaging |
Het |
| Cyfip1 |
C |
A |
7: 55,523,196 (GRCm39) |
N70K |
possibly damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,271,259 (GRCm39) |
|
probably benign |
Het |
| Ddx20 |
A |
T |
3: 105,585,896 (GRCm39) |
Y816* |
probably null |
Het |
| Ddx59 |
A |
G |
1: 136,360,245 (GRCm39) |
I420V |
probably damaging |
Het |
| Dgat1 |
T |
A |
15: 76,386,703 (GRCm39) |
M445L |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,246,546 (GRCm39) |
L628* |
probably null |
Het |
| Dnah7a |
A |
C |
1: 53,598,307 (GRCm39) |
D1409E |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,838,422 (GRCm39) |
T215A |
probably benign |
Het |
| Dsg4 |
C |
T |
18: 20,604,302 (GRCm39) |
T923M |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,852,915 (GRCm39) |
I394V |
possibly damaging |
Het |
| Esrp2 |
A |
T |
8: 106,861,250 (GRCm39) |
M183K |
probably damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,179,410 (GRCm39) |
P79S |
probably benign |
Het |
| Fga |
A |
G |
3: 82,939,082 (GRCm39) |
T486A |
probably benign |
Het |
| Fkbp10 |
G |
T |
11: 100,306,715 (GRCm39) |
A36S |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,393,279 (GRCm39) |
T572A |
probably benign |
Het |
| Fxn |
A |
C |
19: 24,257,765 (GRCm39) |
|
probably null |
Het |
| Gaa |
C |
T |
11: 119,175,324 (GRCm39) |
Q901* |
probably null |
Het |
| Gabrg1 |
A |
G |
5: 70,911,594 (GRCm39) |
M344T |
probably benign |
Het |
| Galnt7 |
C |
T |
8: 57,991,212 (GRCm39) |
V433M |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,712,951 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
C |
8: 111,259,459 (GRCm39) |
D2477A |
probably benign |
Het |
| Igsf6 |
T |
C |
7: 120,670,031 (GRCm39) |
Y37C |
probably damaging |
Het |
| Il18rap |
A |
G |
1: 40,570,687 (GRCm39) |
I210V |
probably benign |
Het |
| Kif3a |
T |
C |
11: 53,489,561 (GRCm39) |
Y138H |
probably damaging |
Het |
| Klra17 |
A |
G |
6: 129,845,681 (GRCm39) |
|
probably null |
Het |
| Lcorl |
A |
T |
5: 45,952,688 (GRCm39) |
I55N |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,510,059 (GRCm39) |
S398P |
possibly damaging |
Het |
| Ltv1 |
A |
G |
10: 13,055,018 (GRCm39) |
L384S |
probably damaging |
Het |
| Mageb3 |
A |
T |
2: 121,784,918 (GRCm39) |
Y261* |
probably null |
Het |
| Mical3 |
T |
G |
6: 121,019,196 (GRCm39) |
T9P |
probably benign |
Het |
| Myrip |
C |
T |
9: 120,217,228 (GRCm39) |
S49L |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,372,487 (GRCm39) |
|
probably benign |
Het |
| Or2m12 |
T |
C |
16: 19,104,627 (GRCm39) |
N289D |
probably damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,728 (GRCm39) |
V201A |
probably benign |
Het |
| Otoa |
A |
T |
7: 120,759,753 (GRCm39) |
|
probably benign |
Het |
| Pals2 |
T |
G |
6: 50,140,411 (GRCm39) |
F144V |
probably benign |
Het |
| Parp11 |
T |
A |
6: 127,467,008 (GRCm39) |
I133N |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,965,416 (GRCm39) |
T528A |
probably benign |
Het |
| Pde4c |
A |
G |
8: 71,179,638 (GRCm39) |
H63R |
probably benign |
Het |
| Pdpk1 |
T |
C |
17: 24,329,878 (GRCm39) |
K53E |
probably damaging |
Het |
| Pdzd7 |
A |
T |
19: 45,024,615 (GRCm39) |
M468K |
probably damaging |
Het |
| Perm1 |
C |
A |
4: 156,303,061 (GRCm39) |
P535Q |
possibly damaging |
Het |
| Pgap1 |
C |
A |
1: 54,575,128 (GRCm39) |
A265S |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,975,747 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
T |
C |
6: 115,957,562 (GRCm39) |
T491A |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,246,128 (GRCm39) |
D470E |
probably benign |
Het |
| Prf1 |
C |
A |
10: 61,138,762 (GRCm39) |
T240N |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,099,445 (GRCm39) |
T1650A |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,080,462 (GRCm39) |
L1264P |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,726,527 (GRCm39) |
S948P |
probably damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,576,268 (GRCm39) |
V117A |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 107,940,125 (GRCm39) |
V756A |
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,566,291 (GRCm39) |
E741G |
probably damaging |
Het |
| Shc3 |
A |
T |
13: 51,626,888 (GRCm39) |
I125K |
possibly damaging |
Het |
| Smr3a |
A |
T |
5: 88,155,917 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
| St6gal1 |
A |
T |
16: 23,140,083 (GRCm39) |
K85* |
probably null |
Het |
| Taf1b |
T |
G |
12: 24,597,121 (GRCm39) |
D353E |
possibly damaging |
Het |
| Tcp10b |
C |
T |
17: 13,286,590 (GRCm39) |
P180S |
possibly damaging |
Het |
| Tlr9 |
A |
T |
9: 106,102,142 (GRCm39) |
M478L |
probably benign |
Het |
| Tpr |
A |
T |
1: 150,295,654 (GRCm39) |
E892D |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,742,581 (GRCm39) |
W22* |
probably null |
Het |
| Usp14 |
A |
G |
18: 10,024,673 (GRCm39) |
V8A |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,307,011 (GRCm39) |
K506N |
possibly damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,475,372 (GRCm39) |
N552I |
probably damaging |
Het |
| Vmn2r56 |
A |
T |
7: 12,449,542 (GRCm39) |
M232K |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,910,788 (GRCm39) |
F3517L |
possibly damaging |
Het |
| Yif1a |
C |
T |
19: 5,142,333 (GRCm39) |
R247* |
probably null |
Het |
| Zbtb5 |
A |
G |
4: 44,993,767 (GRCm39) |
V539A |
probably benign |
Het |
| Zfp180 |
G |
A |
7: 23,804,652 (GRCm39) |
R357Q |
probably damaging |
Het |
| Zfp536 |
A |
G |
7: 37,268,042 (GRCm39) |
L458P |
probably damaging |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfp970 |
C |
T |
2: 177,167,976 (GRCm39) |
H517Y |
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 |
|
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'- GGAGCATCTTCAAACCCACCTG -3'
(R):5'- GCACCTAGAGACACATGCAG -3'
Sequencing Primer
(F):5'- TGAGATGCGGCTCAACTCTCATG -3'
(R):5'- TAGAGACACATGCAGCCCAGTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation