Incidental Mutation 'R0285:Card11'
| ID |
24662 |
| 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 |
038506-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0285 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140872856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 619
(S619F)
|
| 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: S619F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: S619F
| 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 |
0.1374 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.1%
- 20x: 92.9%
|
| Validation Efficiency |
99% (80/81) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy3 |
A |
G |
19: 4,038,193 (GRCm39) |
E162G |
probably benign |
Het |
| Angptl1 |
T |
C |
1: 156,672,785 (GRCm39) |
S204P |
probably benign |
Het |
| Atf6b |
C |
T |
17: 34,869,370 (GRCm39) |
|
probably benign |
Het |
| Ccdc192 |
G |
A |
18: 57,666,937 (GRCm39) |
G5S |
probably damaging |
Het |
| Ccl11 |
G |
A |
11: 81,953,084 (GRCm39) |
V81I |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,944,904 (GRCm39) |
I126T |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 17,594,942 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,636,363 (GRCm39) |
V384F |
possibly damaging |
Het |
| Cuta |
A |
G |
17: 27,158,423 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
G |
A |
14: 87,352,460 (GRCm39) |
T47I |
possibly damaging |
Het |
| Dop1a |
A |
T |
9: 86,394,692 (GRCm39) |
S598C |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,356,770 (GRCm39) |
M217V |
probably benign |
Het |
| Entrep1 |
G |
A |
19: 23,956,749 (GRCm39) |
|
probably benign |
Het |
| Esyt1 |
T |
A |
10: 128,348,087 (GRCm39) |
I898F |
possibly damaging |
Het |
| Fcsk |
G |
C |
8: 111,620,349 (GRCm39) |
H235Q |
probably benign |
Het |
| Fgd3 |
A |
T |
13: 49,417,424 (GRCm39) |
W680R |
possibly damaging |
Het |
| Folh1 |
A |
G |
7: 86,391,373 (GRCm39) |
|
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,859,806 (GRCm39) |
|
probably benign |
Het |
| Garem1 |
A |
G |
18: 21,262,669 (GRCm39) |
M715T |
probably benign |
Het |
| Gpd2 |
A |
T |
2: 57,228,967 (GRCm39) |
D257V |
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,696,103 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
G |
17: 79,115,882 (GRCm39) |
M858T |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,761,145 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
G |
T |
3: 88,004,297 (GRCm39) |
C461F |
probably benign |
Het |
| Lamb1 |
C |
A |
12: 31,376,644 (GRCm39) |
C559* |
probably null |
Het |
| Lratd2 |
T |
C |
15: 60,694,816 (GRCm39) |
H310R |
probably benign |
Het |
| Lrrc31 |
T |
C |
3: 30,739,097 (GRCm39) |
N308S |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,148,663 (GRCm39) |
Y1222C |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,373,325 (GRCm39) |
R42L |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mmp11 |
T |
C |
10: 75,761,502 (GRCm39) |
Y366C |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,963,902 (GRCm39) |
D650E |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,621 (GRCm39) |
M641V |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nol4l |
G |
A |
2: 153,325,773 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
T |
G |
2: 26,350,873 (GRCm39) |
D2089A |
possibly damaging |
Het |
| Or10q3 |
A |
G |
19: 11,848,502 (GRCm39) |
L26P |
probably damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,398 (GRCm39) |
V30M |
possibly damaging |
Het |
| Or52h2 |
A |
T |
7: 103,838,531 (GRCm39) |
Y294* |
probably null |
Het |
| Or5b24 |
A |
T |
19: 12,912,536 (GRCm39) |
M145L |
probably benign |
Het |
| Or5l13 |
A |
G |
2: 87,780,475 (GRCm39) |
I34T |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,706 (GRCm39) |
S161P |
probably benign |
Het |
| Or8d23 |
T |
A |
9: 38,842,070 (GRCm39) |
I201N |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,536,877 (GRCm39) |
|
probably null |
Het |
| Paox |
T |
C |
7: 139,709,053 (GRCm39) |
F324L |
probably damaging |
Het |
| Pycr1 |
A |
T |
11: 120,531,142 (GRCm39) |
I277N |
probably benign |
Het |
| R3hcc1l |
A |
T |
19: 42,564,568 (GRCm39) |
H627L |
probably damaging |
Het |
| Rab21 |
G |
A |
10: 115,126,768 (GRCm39) |
S193L |
probably benign |
Het |
| Ralgds |
T |
G |
2: 28,440,581 (GRCm39) |
|
probably null |
Het |
| Rbm42 |
A |
G |
7: 30,345,265 (GRCm39) |
S169P |
possibly damaging |
Het |
| Rfpl4 |
A |
G |
7: 5,113,377 (GRCm39) |
V262A |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,025,628 (GRCm39) |
I496T |
possibly damaging |
Het |
| Rnf31 |
G |
A |
14: 55,838,846 (GRCm39) |
A901T |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,731,863 (GRCm39) |
D2359G |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 64,381,823 (GRCm39) |
Y336* |
probably null |
Het |
| Slc16a7 |
T |
A |
10: 125,130,500 (GRCm39) |
I62L |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,850,022 (GRCm39) |
|
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 56,904,810 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,898,117 (GRCm39) |
I532M |
probably damaging |
Het |
| Spata31f1a |
G |
A |
4: 42,850,236 (GRCm39) |
T640M |
probably benign |
Het |
| Srrm4 |
C |
A |
5: 116,605,848 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
C |
A |
2: 32,713,554 (GRCm39) |
E27D |
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,362,685 (GRCm39) |
Y131N |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,961,457 (GRCm39) |
Q492R |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,224,905 (GRCm39) |
S119P |
probably benign |
Het |
| Tmprss11c |
A |
G |
5: 86,419,289 (GRCm39) |
L90P |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,337,068 (GRCm39) |
D346V |
probably damaging |
Het |
| Ubr4 |
A |
C |
4: 139,168,112 (GRCm39) |
S2820R |
probably damaging |
Het |
| Usp4 |
T |
C |
9: 108,255,763 (GRCm39) |
V607A |
probably benign |
Het |
| Usp45 |
A |
G |
4: 21,798,603 (GRCm39) |
|
probably null |
Het |
| Vill |
C |
T |
9: 118,899,895 (GRCm39) |
|
probably benign |
Het |
| Vmn1r13 |
C |
A |
6: 57,186,979 (GRCm39) |
T46N |
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,873 (GRCm39) |
T63A |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,391 (GRCm39) |
W797R |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,198,800 (GRCm39) |
D287E |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,475,046 (GRCm39) |
L660F |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTCAGTTAGGGAAGTGAAAAGATG -3'
(R):5'- TAAGAGCTGTAGGGTTCTCACCCCAG -3'
Sequencing Primer
(F):5'- cctatccctgtacccttctctg -3'
(R):5'- tgtgagagatggaggcagg -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation