Incidental Mutation 'R4889:Card11'
ID |
377189 |
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 |
042494-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4889 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140871700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 667
(Q667R)
|
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: Q667R
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526 AA Change: Q667R
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 |
0.0737 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
98% (59/60) |
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 |
Ado |
G |
C |
10: 67,384,135 (GRCm39) |
R157G |
probably benign |
Het |
Akap12 |
C |
A |
10: 4,306,535 (GRCm39) |
A1115E |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,711,787 (GRCm39) |
M196V |
probably null |
Het |
Appl2 |
G |
A |
10: 83,476,922 (GRCm39) |
T34I |
probably damaging |
Het |
Arhgap21 |
T |
C |
2: 20,885,279 (GRCm39) |
S472G |
probably benign |
Het |
Asmt |
G |
T |
X: 169,110,764 (GRCm39) |
R250L |
possibly damaging |
Het |
Baz2b |
A |
T |
2: 59,767,070 (GRCm39) |
I870N |
probably damaging |
Het |
Cercam |
A |
G |
2: 29,771,845 (GRCm39) |
D555G |
probably damaging |
Het |
Cop1 |
A |
T |
1: 159,112,159 (GRCm39) |
R284S |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,858,893 (GRCm39) |
V9A |
possibly damaging |
Het |
Ctsm |
A |
G |
13: 61,686,215 (GRCm39) |
F106S |
probably damaging |
Het |
Dhx9 |
A |
T |
1: 153,356,895 (GRCm39) |
L118Q |
probably damaging |
Het |
Dnah5 |
G |
T |
15: 28,235,938 (GRCm39) |
C355F |
probably benign |
Het |
Dock1 |
C |
A |
7: 134,346,705 (GRCm39) |
N212K |
probably benign |
Het |
Efemp2 |
T |
A |
19: 5,525,148 (GRCm39) |
L18Q |
probably null |
Het |
Flvcr1 |
A |
G |
1: 190,757,764 (GRCm39) |
L176P |
probably damaging |
Het |
Gm16505 |
A |
T |
13: 3,411,125 (GRCm39) |
|
noncoding transcript |
Het |
Gm6457 |
A |
T |
18: 14,703,501 (GRCm39) |
|
noncoding transcript |
Het |
Gnptab |
A |
G |
10: 88,269,775 (GRCm39) |
N826S |
probably benign |
Het |
Hdc |
T |
G |
2: 126,436,053 (GRCm39) |
N606T |
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,127 (GRCm39) |
D113G |
probably benign |
Het |
Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
Mkrn1 |
A |
T |
6: 39,396,939 (GRCm39) |
|
probably benign |
Het |
Myo18a |
T |
C |
11: 77,723,238 (GRCm39) |
V720A |
probably damaging |
Het |
Nkx3-1 |
G |
A |
14: 69,428,447 (GRCm39) |
|
probably null |
Het |
Npat |
T |
C |
9: 53,473,507 (GRCm39) |
I433T |
probably benign |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Or10ag53 |
A |
T |
2: 87,082,991 (GRCm39) |
I237F |
probably damaging |
Het |
Or1l4 |
A |
G |
2: 37,092,057 (GRCm39) |
Y268C |
probably damaging |
Het |
Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
Pde6c |
T |
A |
19: 38,121,599 (GRCm39) |
M69K |
probably benign |
Het |
Pde7b |
T |
C |
10: 20,423,823 (GRCm39) |
T18A |
probably benign |
Het |
Plcz1 |
T |
C |
6: 139,953,474 (GRCm39) |
K381R |
probably benign |
Het |
Ppfia4 |
A |
C |
1: 134,228,252 (GRCm39) |
F1095V |
probably damaging |
Het |
Sfxn3 |
T |
C |
19: 45,038,254 (GRCm39) |
F78S |
probably damaging |
Het |
Sim1 |
A |
T |
10: 50,857,420 (GRCm39) |
Y390F |
probably benign |
Het |
Slc25a31 |
A |
G |
3: 40,675,975 (GRCm39) |
I174V |
probably benign |
Het |
Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
T |
G |
6: 141,602,469 (GRCm39) |
|
probably benign |
Het |
Smarca5 |
C |
A |
8: 81,431,326 (GRCm39) |
D964Y |
possibly damaging |
Het |
Sptbn2 |
T |
A |
19: 4,779,458 (GRCm39) |
S338R |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,137,719 (GRCm39) |
V1023A |
possibly damaging |
Het |
Syt16 |
A |
G |
12: 74,176,269 (GRCm39) |
E46G |
probably damaging |
Het |
Tas2r114 |
A |
T |
6: 131,666,758 (GRCm39) |
I90K |
probably damaging |
Het |
Tlx1 |
G |
T |
19: 45,139,418 (GRCm39) |
D22Y |
probably damaging |
Het |
Vamp8 |
G |
A |
6: 72,362,522 (GRCm39) |
L93F |
possibly damaging |
Het |
Vill |
T |
C |
9: 118,892,409 (GRCm39) |
S347P |
possibly damaging |
Het |
Zfp974 |
A |
G |
7: 27,610,244 (GRCm39) |
Y494H |
possibly 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 |
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'- GCATGCGTGTACGTAGAAGTGG -3'
(R):5'- GAATCCCTTAGAACCCAGAGGC -3'
Sequencing Primer
(F):5'- TACGTAGAAGTGGAGGGCCTG -3'
(R):5'- TTAGAACCCAGAGGCCTCCAAG -3'
|
Posted On |
2016-03-17 |