Incidental Mutation 'R5258:Card11'
ID |
401230 |
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 |
042828-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5258 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 140862180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1039
(P1039L)
|
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: P1039L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526 AA Change: P1039L
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 |
0.0837 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
98% (55/56) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,385,266 (GRCm39) |
D233V |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,199,684 (GRCm39) |
T128S |
possibly damaging |
Het |
Abca16 |
T |
G |
7: 120,035,992 (GRCm39) |
|
probably null |
Het |
Abcc8 |
T |
C |
7: 45,757,811 (GRCm39) |
I1313V |
probably benign |
Het |
Abcc8 |
C |
T |
7: 45,806,572 (GRCm39) |
V379I |
probably benign |
Het |
Acp3 |
T |
C |
9: 104,186,674 (GRCm39) |
I266V |
probably benign |
Het |
Asf1b |
C |
T |
8: 84,695,896 (GRCm39) |
T179I |
probably benign |
Het |
B3gnt7 |
A |
G |
1: 86,233,287 (GRCm39) |
K61E |
possibly damaging |
Het |
Cd1d2 |
C |
G |
3: 86,894,954 (GRCm39) |
R147G |
possibly damaging |
Het |
Cfap68 |
T |
C |
9: 50,675,633 (GRCm39) |
|
probably benign |
Het |
Cfap69 |
T |
C |
5: 5,654,271 (GRCm39) |
|
probably null |
Het |
Ddx46 |
T |
C |
13: 55,800,837 (GRCm39) |
F331L |
possibly damaging |
Het |
Dkk4 |
C |
A |
8: 23,117,031 (GRCm39) |
L215I |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,323,244 (GRCm39) |
T584I |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,874,124 (GRCm39) |
Y449C |
probably damaging |
Het |
Foxi2 |
C |
T |
7: 135,012,256 (GRCm39) |
T48M |
probably benign |
Het |
Gm12887 |
T |
C |
4: 121,472,897 (GRCm39) |
K82E |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Igkv4-80 |
T |
A |
6: 68,993,811 (GRCm39) |
T27S |
probably benign |
Het |
Invs |
A |
G |
4: 48,396,374 (GRCm39) |
D349G |
possibly damaging |
Het |
Lbhd1 |
A |
G |
19: 8,861,453 (GRCm39) |
|
probably benign |
Het |
Lipo3 |
T |
A |
19: 33,591,243 (GRCm39) |
|
probably benign |
Het |
Llgl1 |
G |
C |
11: 60,602,389 (GRCm39) |
|
probably null |
Het |
Lyzl6 |
T |
A |
11: 103,525,899 (GRCm39) |
I74F |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,974,953 (GRCm39) |
V662A |
possibly damaging |
Het |
Megf8 |
T |
A |
7: 25,047,751 (GRCm39) |
F1645I |
possibly damaging |
Het |
Mfsd4b2 |
T |
A |
10: 39,798,017 (GRCm39) |
M113L |
probably benign |
Het |
Mib1 |
G |
A |
18: 10,795,856 (GRCm39) |
|
probably null |
Het |
Mrps6 |
T |
A |
16: 91,896,543 (GRCm39) |
V36E |
probably damaging |
Het |
Nhsl1 |
C |
A |
10: 18,400,070 (GRCm39) |
S432* |
probably null |
Het |
Nle1 |
T |
C |
11: 82,795,772 (GRCm39) |
D225G |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,069,622 (GRCm39) |
S508T |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or5d37 |
A |
T |
2: 87,923,762 (GRCm39) |
Y173N |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,819,066 (GRCm39) |
E496G |
probably damaging |
Het |
Prdm16 |
A |
T |
4: 154,451,671 (GRCm39) |
D179E |
possibly damaging |
Het |
Psca |
A |
T |
15: 74,588,240 (GRCm39) |
I56F |
probably damaging |
Het |
Ptprg |
A |
G |
14: 12,142,431 (GRCm38) |
T361A |
probably benign |
Het |
Ptrhd1 |
A |
G |
12: 4,286,481 (GRCm39) |
Y124C |
probably damaging |
Het |
Sesn1 |
C |
T |
10: 41,770,984 (GRCm39) |
P172S |
probably benign |
Het |
Sspo |
T |
C |
6: 48,453,428 (GRCm39) |
V2872A |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,529,824 (GRCm39) |
L2027H |
probably damaging |
Het |
Tas2r114 |
T |
A |
6: 131,666,504 (GRCm39) |
I175F |
probably benign |
Het |
Tex2 |
T |
A |
11: 106,458,585 (GRCm39) |
|
probably benign |
Het |
Tfdp1 |
C |
T |
8: 13,419,529 (GRCm39) |
T86M |
possibly damaging |
Het |
Trav14-1 |
C |
T |
14: 53,791,730 (GRCm39) |
H27Y |
probably benign |
Het |
Trim24 |
A |
T |
6: 37,896,335 (GRCm39) |
Q264L |
probably benign |
Het |
Vmn2r90 |
A |
G |
17: 17,933,114 (GRCm39) |
I225V |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,794,567 (GRCm39) |
T2326A |
possibly damaging |
Het |
Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
Zfp407 |
C |
T |
18: 84,334,051 (GRCm39) |
V1761I |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,678,456 (GRCm39) |
E160D |
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 |
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'- GCCCACATCAGAGATTTGAGG -3'
(R):5'- GGTCTGGCAGAGCAATCATG -3'
Sequencing Primer
(F):5'- CCCACATCAGAGATTTGAGGACAAAG -3'
(R):5'- TCTGGCAGAGCAATCATGAACTTG -3'
|
Posted On |
2016-07-06 |