Incidental Mutation 'R8154:Card11'
| ID |
633196 |
| 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 |
067580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 140886732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 339
(K339T)
|
| 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: K339T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: K339T
| 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 |
0.2080 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810037I17Rik |
G |
T |
3: 122,718,142 (GRCm39) |
G12C |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,424 (GRCm39) |
I600N |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,756,902 (GRCm39) |
P357T |
probably damaging |
Het |
| Bmyc |
T |
A |
2: 25,597,346 (GRCm39) |
S137T |
probably damaging |
Het |
| Bpifa1 |
T |
A |
2: 153,987,654 (GRCm39) |
M168K |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,542,446 (GRCm39) |
|
probably null |
Het |
| Ccr9 |
T |
C |
9: 123,608,896 (GRCm39) |
S193P |
probably benign |
Het |
| Cracd |
A |
T |
5: 76,989,644 (GRCm39) |
E62D |
unknown |
Het |
| Csf2rb |
A |
G |
15: 78,224,642 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,281,434 (GRCm39) |
E576G |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,315,493 (GRCm39) |
N238S |
probably benign |
Het |
| Dnaja3 |
C |
A |
16: 4,517,740 (GRCm39) |
T375K |
possibly damaging |
Het |
| Espnl |
C |
T |
1: 91,252,921 (GRCm39) |
H217Y |
possibly damaging |
Het |
| Exoc4 |
T |
C |
6: 33,887,473 (GRCm39) |
S754P |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,784,507 (GRCm39) |
D189G |
probably benign |
Het |
| Gle1 |
T |
A |
2: 29,828,619 (GRCm39) |
|
probably null |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gtf2i |
A |
T |
5: 134,280,721 (GRCm39) |
F583L |
probably benign |
Het |
| Heatr9 |
T |
A |
11: 83,402,703 (GRCm39) |
Y532F |
possibly damaging |
Het |
| Hic2 |
C |
T |
16: 17,076,344 (GRCm39) |
S391L |
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,656,652 (GRCm39) |
V905A |
probably damaging |
Het |
| Inpp5f |
T |
G |
7: 128,265,991 (GRCm39) |
W211G |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,412,802 (GRCm39) |
L382P |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,361,822 (GRCm39) |
Y1123F |
possibly damaging |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Ldlrad4 |
C |
T |
18: 68,387,293 (GRCm39) |
R202* |
probably null |
Het |
| Lmod3 |
T |
A |
6: 97,224,941 (GRCm39) |
K293N |
probably damaging |
Het |
| Luzp1 |
T |
C |
4: 136,269,195 (GRCm39) |
S473P |
possibly damaging |
Het |
| Lzic |
T |
A |
4: 149,573,141 (GRCm39) |
F98I |
probably damaging |
Het |
| Map4k4 |
T |
G |
1: 40,060,302 (GRCm39) |
Y1030* |
probably null |
Het |
| Miga1 |
A |
G |
3: 152,026,337 (GRCm39) |
|
probably benign |
Het |
| Mrpl18 |
T |
C |
17: 13,130,608 (GRCm39) |
E167G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,144,200 (GRCm39) |
E1190G |
probably damaging |
Het |
| Ngef |
C |
T |
1: 87,468,482 (GRCm39) |
M92I |
probably benign |
Het |
| Nlrc4 |
T |
A |
17: 74,752,904 (GRCm39) |
Y493F |
probably damaging |
Het |
| Or52s19 |
A |
C |
7: 103,007,763 (GRCm39) |
C213G |
probably benign |
Het |
| Otud7a |
C |
A |
7: 63,407,612 (GRCm39) |
F638L |
probably benign |
Het |
| Padi2 |
T |
A |
4: 140,651,620 (GRCm39) |
|
probably null |
Het |
| Pcdhgb1 |
A |
G |
18: 37,815,596 (GRCm39) |
I696V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,304,948 (GRCm39) |
F1745S |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
| Prrc2b |
C |
T |
2: 32,108,689 (GRCm39) |
A1637V |
probably benign |
Het |
| Rab3il1 |
A |
T |
19: 10,004,936 (GRCm39) |
M57L |
possibly damaging |
Het |
| Rbl2 |
A |
G |
8: 91,833,825 (GRCm39) |
D885G |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,691,205 (GRCm39) |
M47V |
unknown |
Het |
| Rd3l |
T |
A |
12: 111,946,638 (GRCm39) |
H46L |
probably benign |
Het |
| Scn5a |
C |
G |
9: 119,391,611 (GRCm39) |
R27P |
possibly damaging |
Het |
| Set |
T |
A |
2: 29,959,100 (GRCm39) |
V99D |
probably benign |
Het |
| Sh3tc1 |
T |
A |
5: 35,875,696 (GRCm39) |
I138F |
probably damaging |
Het |
| Slf2 |
T |
A |
19: 44,923,596 (GRCm39) |
S137T |
possibly damaging |
Het |
| Smg8 |
A |
T |
11: 86,976,063 (GRCm39) |
M506K |
possibly damaging |
Het |
| Stpg2 |
G |
A |
3: 139,014,938 (GRCm39) |
V368M |
probably damaging |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,284,999 (GRCm39) |
V25A |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,776,210 (GRCm39) |
Y1718C |
probably damaging |
Het |
| Vrk1 |
A |
G |
12: 106,036,793 (GRCm39) |
K360E |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,017 (GRCm39) |
H1419Q |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,802,366 (GRCm39) |
F94L |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,336,946 (GRCm39) |
L201P |
probably benign |
Het |
| Zfp638 |
C |
T |
6: 83,954,391 (GRCm39) |
R1499W |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,897,157 (GRCm39) |
L589Q |
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 |
|
|
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 |
|
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 |
|
|
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'- ACATCCTTGGTGGCTGCTTG -3'
(R):5'- AAATCTTCTGCCATCTTGGGG -3'
Sequencing Primer
(F):5'- GCTGCTTGGACTGGCAAG -3'
(R):5'- CGGGGCTAGCTCCTTTGTC -3'
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| Posted On |
2020-06-30 |
Incidental Mutation