Incidental Mutation 'IGL01731:Card11'
| ID |
105477 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Card11
|
| Ensembl Gene |
ENSMUSG00000036526 |
| Gene Name |
caspase recruitment domain family, member 11 |
| Synonyms |
2410011D02Rik, BIMP3, CARMA1, 0610008L17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01731
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140868057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 864
(T864A)
|
| 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: T864A
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: T864A
| 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
|
| Coding Region Coverage |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430093F15Rik |
T |
A |
19: 10,762,711 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,199,749 (GRCm39) |
|
probably benign |
Het |
| Abcc6 |
G |
A |
7: 45,652,034 (GRCm39) |
P611L |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,241,385 (GRCm39) |
E547G |
probably benign |
Het |
| Aldh1b1 |
T |
C |
4: 45,803,472 (GRCm39) |
F337L |
possibly damaging |
Het |
| Alg1 |
C |
T |
16: 5,062,383 (GRCm39) |
R422C |
probably benign |
Het |
| Ankrd23 |
A |
G |
1: 36,573,147 (GRCm39) |
L75S |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,933,439 (GRCm39) |
H578R |
probably damaging |
Het |
| Atp10a |
G |
T |
7: 58,447,310 (GRCm39) |
W684L |
probably benign |
Het |
| Bzw2 |
T |
C |
12: 36,157,647 (GRCm39) |
|
probably null |
Het |
| C2cd2 |
A |
T |
16: 97,671,372 (GRCm39) |
I509K |
probably damaging |
Het |
| Ces1f |
A |
G |
8: 93,993,948 (GRCm39) |
S278P |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,111 (GRCm39) |
I208V |
probably benign |
Het |
| Cstf2t |
T |
C |
19: 31,061,738 (GRCm39) |
S425P |
probably benign |
Het |
| Cxcl1 |
A |
G |
5: 91,039,436 (GRCm39) |
T60A |
probably benign |
Het |
| Diaph1 |
G |
T |
18: 37,986,762 (GRCm39) |
|
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,919,632 (GRCm39) |
I139V |
probably benign |
Het |
| Exoc3l |
T |
G |
8: 106,019,587 (GRCm39) |
K394T |
probably benign |
Het |
| Fabp4 |
T |
C |
3: 10,270,293 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
T |
A |
6: 135,188,903 (GRCm39) |
F169L |
possibly damaging |
Het |
| Hectd1 |
C |
A |
12: 51,849,593 (GRCm39) |
D204Y |
possibly damaging |
Het |
| Hephl1 |
A |
T |
9: 14,981,066 (GRCm39) |
Y789N |
probably damaging |
Het |
| Igfbp6 |
C |
A |
15: 102,053,252 (GRCm39) |
N90K |
probably benign |
Het |
| Khdrbs1 |
A |
T |
4: 129,619,462 (GRCm39) |
D226E |
probably benign |
Het |
| Lipo4 |
T |
A |
19: 33,490,013 (GRCm39) |
Q163L |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,472 (GRCm39) |
I1188T |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,298,278 (GRCm39) |
E2252G |
probably benign |
Het |
| Nepn |
G |
T |
10: 52,276,660 (GRCm39) |
R132L |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,342 (GRCm39) |
L193* |
probably null |
Het |
| Ntn1 |
A |
G |
11: 68,276,244 (GRCm39) |
S235P |
probably damaging |
Het |
| Nup210l |
G |
T |
3: 90,061,873 (GRCm39) |
R684L |
probably damaging |
Het |
| Obi1 |
T |
C |
14: 104,716,738 (GRCm39) |
D545G |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,293 (GRCm39) |
S154G |
possibly damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,406,282 (GRCm39) |
T285A |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,790,980 (GRCm39) |
V146A |
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,053 (GRCm39) |
T135S |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,682 (GRCm39) |
I194F |
probably benign |
Het |
| Polr3b |
A |
T |
10: 84,467,704 (GRCm39) |
R95* |
probably null |
Het |
| Prelid2 |
C |
T |
18: 42,070,714 (GRCm39) |
V40M |
probably benign |
Het |
| Ptprb |
T |
G |
10: 116,208,781 (GRCm39) |
L2205R |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,551,240 (GRCm39) |
V79A |
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,598,162 (GRCm39) |
I259T |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,189 (GRCm39) |
N162I |
possibly damaging |
Het |
| Tuba3a |
A |
G |
6: 125,259,721 (GRCm39) |
V75A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,757 (GRCm39) |
*852K |
probably null |
Het |
| Zfp7 |
C |
T |
15: 76,772,505 (GRCm39) |
Q69* |
probably null |
Het |
| Zfp865 |
G |
T |
7: 5,032,875 (GRCm39) |
A287S |
probably benign |
Het |
| Zmpste24 |
T |
A |
4: 120,955,081 (GRCm39) |
Q39L |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation