Incidental Mutation 'R7291:Card11'
| ID |
566404 |
| 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 |
045322-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140886825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 308
(D308G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085786
AA Change: D308G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: D308G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430069I07Rik |
T |
C |
15: 34,355,699 (GRCm39) |
E51G |
possibly damaging |
Het |
| Abca14 |
C |
A |
7: 119,888,832 (GRCm39) |
C1259* |
probably null |
Het |
| Ablim1 |
T |
C |
19: 57,204,340 (GRCm39) |
E17G |
probably benign |
Het |
| Acsf3 |
G |
A |
8: 123,540,316 (GRCm39) |
V505I |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,220,859 (GRCm39) |
M650V |
probably benign |
Het |
| Adamts4 |
G |
A |
1: 171,084,097 (GRCm39) |
V525I |
probably benign |
Het |
| Adh1 |
T |
C |
3: 137,988,569 (GRCm39) |
Y181H |
probably damaging |
Het |
| Alpl |
G |
A |
4: 137,480,009 (GRCm39) |
R168W |
probably damaging |
Het |
| Ate1 |
T |
G |
7: 130,121,661 (GRCm39) |
K11Q |
probably benign |
Het |
| Atpaf1 |
T |
A |
4: 115,668,288 (GRCm39) |
F314L |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,291 (GRCm39) |
D1004V |
probably damaging |
Het |
| Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
| C1s2 |
T |
A |
6: 124,602,343 (GRCm39) |
I623F |
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,851,359 (GRCm39) |
V354I |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,020,662 (GRCm39) |
F1236I |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,929,590 (GRCm39) |
I4266F |
possibly damaging |
Het |
| Ear10 |
A |
T |
14: 44,160,377 (GRCm39) |
V150D |
probably damaging |
Het |
| Elfn2 |
C |
T |
15: 78,557,183 (GRCm39) |
A455T |
probably benign |
Het |
| Erp44 |
A |
G |
4: 48,208,792 (GRCm39) |
Y223H |
probably damaging |
Het |
| Fam110b |
T |
A |
4: 5,798,895 (GRCm39) |
H104Q |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,800,817 (GRCm39) |
N1288D |
probably benign |
Het |
| Fcgbpl1 |
A |
C |
7: 27,839,645 (GRCm39) |
D486A |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,293,088 (GRCm39) |
|
probably null |
Het |
| Fmo2 |
G |
T |
1: 162,715,271 (GRCm39) |
P117Q |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,810,863 (GRCm39) |
K2394R |
possibly damaging |
Het |
| Gab1 |
T |
G |
8: 81,526,780 (GRCm39) |
K106T |
probably damaging |
Het |
| Gatad2b |
T |
C |
3: 90,258,721 (GRCm39) |
V248A |
probably damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,204 (GRCm39) |
S55P |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,061 (GRCm39) |
T106A |
unknown |
Het |
| Gm7356 |
T |
C |
17: 14,221,843 (GRCm39) |
N62S |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,774,689 (GRCm39) |
T31A |
possibly damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,621 (GRCm39) |
D61V |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,972,122 (GRCm39) |
L716S |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,953,753 (GRCm39) |
Y831H |
probably damaging |
Het |
| Ifi202b |
C |
T |
1: 173,802,381 (GRCm39) |
S151N |
probably benign |
Het |
| Il15ra |
C |
T |
2: 11,723,192 (GRCm39) |
T72I |
probably damaging |
Het |
| Ints1 |
A |
G |
5: 139,750,829 (GRCm39) |
L858P |
probably damaging |
Het |
| Kat2a |
C |
T |
11: 100,601,726 (GRCm39) |
V230I |
possibly damaging |
Het |
| Kcnq2 |
A |
T |
2: 180,730,172 (GRCm39) |
I498N |
possibly damaging |
Het |
| Kif26b |
C |
T |
1: 178,506,611 (GRCm39) |
T229I |
possibly damaging |
Het |
| Ly75 |
T |
A |
2: 60,160,337 (GRCm39) |
I957F |
probably damaging |
Het |
| Map3k12 |
T |
A |
15: 102,410,601 (GRCm39) |
R459W |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,205,155 (GRCm39) |
|
probably null |
Het |
| Mrgprf |
A |
G |
7: 144,861,206 (GRCm39) |
I53V |
unknown |
Het |
| Mttp |
A |
G |
3: 137,796,964 (GRCm39) |
L846P |
probably damaging |
Het |
| Myrip |
C |
T |
9: 120,246,207 (GRCm39) |
L112F |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,393,597 (GRCm39) |
F1047S |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,458,628 (GRCm39) |
D327G |
possibly damaging |
Het |
| Notch1 |
C |
T |
2: 26,366,387 (GRCm39) |
V776I |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,466,161 (GRCm39) |
D1522E |
probably damaging |
Het |
| Or52s6 |
T |
A |
7: 103,091,995 (GRCm39) |
M112L |
probably benign |
Het |
| Or5b110-ps1 |
A |
T |
19: 13,259,517 (GRCm39) |
F302I |
unknown |
Het |
| Or7e168 |
T |
C |
9: 19,719,944 (GRCm39) |
M110T |
possibly damaging |
Het |
| Or9r3 |
T |
C |
10: 129,948,093 (GRCm39) |
K189E |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,281,838 (GRCm39) |
N471D |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,360,779 (GRCm39) |
H203R |
probably benign |
Het |
| Plch2 |
C |
A |
4: 155,082,929 (GRCm39) |
C573F |
probably damaging |
Het |
| Polr1a |
G |
A |
6: 71,918,440 (GRCm39) |
R666Q |
probably benign |
Het |
| Prepl |
T |
C |
17: 85,388,668 (GRCm39) |
N145S |
probably benign |
Het |
| Psen2 |
C |
T |
1: 180,066,521 (GRCm39) |
V139M |
probably benign |
Het |
| Ptgdr |
A |
T |
14: 45,096,649 (GRCm39) |
M21K |
possibly damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,582,065 (GRCm39) |
W1331R |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,269,747 (GRCm39) |
G1778S |
probably benign |
Het |
| Rrbp1 |
A |
T |
2: 143,811,382 (GRCm39) |
M824K |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,815,739 (GRCm39) |
T23A |
probably benign |
Het |
| Sele |
A |
G |
1: 163,881,437 (GRCm39) |
S515G |
possibly damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,381,822 (GRCm39) |
N421D |
probably damaging |
Het |
| Slc35f3 |
T |
G |
8: 127,121,297 (GRCm39) |
L386R |
probably benign |
Het |
| Stab2 |
G |
A |
10: 86,782,084 (GRCm39) |
S699L |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,900,207 (GRCm39) |
L726F |
probably damaging |
Het |
| Syt3 |
G |
A |
7: 44,045,343 (GRCm39) |
V528M |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,248,446 (GRCm39) |
I655T |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,642,600 (GRCm39) |
S622P |
probably damaging |
Het |
| Tex36 |
C |
T |
7: 133,188,952 (GRCm39) |
G207S |
probably benign |
Het |
| Trav5n-4 |
G |
A |
14: 53,550,399 (GRCm39) |
W13* |
probably null |
Het |
| Trdn |
A |
T |
10: 33,313,732 (GRCm39) |
E500V |
probably null |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,754 (GRCm39) |
N379K |
probably damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,876 (GRCm39) |
R248G |
possibly damaging |
Het |
| Vmn1r195 |
C |
T |
13: 22,462,919 (GRCm39) |
L130F |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,794,471 (GRCm39) |
I733V |
probably benign |
Het |
| Zfp870 |
T |
A |
17: 33,102,828 (GRCm39) |
N167I |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,426,503 (GRCm39) |
M179L |
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 |
|
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 |
|
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'- CATTTACAAACCACAATGGGGC -3'
(R):5'- GACAAATTCCCTCGTGCATCC -3'
Sequencing Primer
(F):5'- ATGCTGGGACATGCACTAC -3'
(R):5'- CGCTGTTCCGCCACGAAATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation