Incidental Mutation 'R5682:Card11'
| ID |
443103 |
| 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 |
043318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5682 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 140888666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 231
(Q231*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085786
AA Change: Q231*
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: Q231*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,283,723 (GRCm39) |
S7T |
probably benign |
Het |
| Acot4 |
G |
A |
12: 84,085,576 (GRCm39) |
V98M |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,162,774 (GRCm39) |
N41I |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,255,758 (GRCm39) |
N1590I |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,729,347 (GRCm39) |
G714R |
probably damaging |
Het |
| Armh4 |
T |
C |
14: 49,989,043 (GRCm39) |
D642G |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,914,914 (GRCm39) |
R1848Q |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,081,730 (GRCm39) |
Y141N |
probably damaging |
Het |
| Atxn3 |
A |
T |
12: 101,924,406 (GRCm39) |
I1N |
probably damaging |
Het |
| Avil |
A |
C |
10: 126,849,973 (GRCm39) |
Q608P |
probably damaging |
Het |
| Axin1 |
T |
C |
17: 26,406,775 (GRCm39) |
V456A |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,349,940 (GRCm39) |
L635P |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,432,799 (GRCm39) |
R500* |
probably null |
Het |
| Cdh24 |
T |
C |
14: 54,874,805 (GRCm39) |
D400G |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,361,138 (GRCm39) |
L164P |
probably damaging |
Het |
| Corin |
A |
G |
5: 72,579,497 (GRCm39) |
S224P |
possibly damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,097,953 (GRCm39) |
Y371C |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,793,480 (GRCm39) |
E405V |
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 64,709,085 (GRCm39) |
M708K |
probably damaging |
Het |
| Cyp7a1 |
T |
A |
4: 6,268,429 (GRCm39) |
Y432F |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,800,883 (GRCm39) |
V113E |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,067,383 (GRCm39) |
I88T |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,139,330 (GRCm39) |
F406L |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,125,592 (GRCm39) |
Q648* |
probably null |
Het |
| Fam171a1 |
G |
A |
2: 3,227,126 (GRCm39) |
R753Q |
probably damaging |
Het |
| Figla |
T |
A |
6: 85,995,604 (GRCm39) |
V86E |
probably damaging |
Het |
| Galnt7 |
C |
A |
8: 58,036,967 (GRCm39) |
E141* |
probably null |
Het |
| Garnl3 |
A |
G |
2: 32,944,185 (GRCm39) |
Y125H |
probably damaging |
Het |
| Gnb5 |
A |
G |
9: 75,234,523 (GRCm39) |
D74G |
probably damaging |
Het |
| Grk1 |
A |
T |
8: 13,464,351 (GRCm39) |
I408F |
possibly damaging |
Het |
| Has1 |
A |
T |
17: 18,064,425 (GRCm39) |
W405R |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,104,749 (GRCm39) |
|
probably benign |
Het |
| Helq |
T |
A |
5: 100,933,170 (GRCm39) |
M555L |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,714,408 (GRCm39) |
N556S |
possibly damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,968,949 (GRCm39) |
S144P |
probably damaging |
Het |
| Itgb1 |
G |
A |
8: 129,453,549 (GRCm39) |
|
probably null |
Het |
| Kcnh4 |
A |
T |
11: 100,640,628 (GRCm39) |
M466K |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,880,737 (GRCm39) |
N565K |
probably damaging |
Het |
| Limk1 |
A |
C |
5: 134,694,059 (GRCm39) |
|
probably null |
Het |
| Lrif1 |
T |
C |
3: 106,639,884 (GRCm39) |
I323T |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,328,552 (GRCm39) |
E1811G |
probably damaging |
Het |
| Mctp2 |
A |
C |
7: 71,895,207 (GRCm39) |
|
probably null |
Het |
| Mmp21 |
A |
G |
7: 133,276,358 (GRCm39) |
I495T |
probably benign |
Het |
| Mpz |
A |
T |
1: 170,986,463 (GRCm39) |
T126S |
possibly damaging |
Het |
| Napsa |
A |
G |
7: 44,234,768 (GRCm39) |
Y301C |
possibly damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,170,474 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,510,155 (GRCm39) |
E47G |
probably benign |
Het |
| Or8b56 |
A |
G |
9: 38,739,424 (GRCm39) |
I146V |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,144,502 (GRCm39) |
K198E |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,081,040 (GRCm39) |
D594G |
probably damaging |
Het |
| Pdcd5 |
G |
A |
7: 35,346,613 (GRCm39) |
|
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,865,685 (GRCm39) |
S166T |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,516 (GRCm39) |
Y166C |
probably damaging |
Het |
| Prkch |
C |
T |
12: 73,744,724 (GRCm39) |
H246Y |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,134,413 (GRCm39) |
L562* |
probably null |
Het |
| Rab3ip |
C |
T |
10: 116,743,008 (GRCm39) |
W439* |
probably null |
Het |
| Rasef |
T |
A |
4: 73,659,208 (GRCm39) |
R435* |
probably null |
Het |
| Rnf103 |
C |
T |
6: 71,485,708 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,765 (GRCm39) |
F388L |
probably benign |
Het |
| Sds |
A |
C |
5: 120,621,784 (GRCm39) |
S309R |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,824,847 (GRCm39) |
D736E |
possibly damaging |
Het |
| Sgms2 |
A |
G |
3: 131,118,611 (GRCm39) |
Y291H |
probably damaging |
Het |
| Sgsm3 |
A |
G |
15: 80,895,661 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
T |
A |
2: 130,925,930 (GRCm39) |
I259F |
probably damaging |
Het |
| Sik2 |
G |
A |
9: 50,828,382 (GRCm39) |
P220L |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,551,991 (GRCm39) |
V351A |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,016,489 (GRCm39) |
S369P |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,640,919 (GRCm39) |
M649K |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,216,879 (GRCm39) |
E211G |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,733,207 (GRCm39) |
|
probably null |
Het |
| Tpgs1 |
G |
A |
10: 79,511,421 (GRCm39) |
V188M |
probably damaging |
Het |
| Vmn1r201 |
G |
T |
13: 22,659,355 (GRCm39) |
V190F |
probably damaging |
Het |
| Vmn1r64 |
A |
T |
7: 5,886,622 (GRCm39) |
L307Q |
possibly damaging |
Het |
| Wbp11 |
T |
C |
6: 136,791,252 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,031,125 (GRCm39) |
Y134C |
probably damaging |
Het |
| Zan |
G |
T |
5: 137,412,521 (GRCm39) |
C3263* |
probably null |
Het |
| Zc3h12c |
G |
T |
9: 52,037,876 (GRCm39) |
D301E |
probably damaging |
Het |
| Zfp365 |
A |
C |
10: 67,745,637 (GRCm39) |
L47R |
probably damaging |
Het |
| Zmym6 |
C |
T |
4: 126,998,200 (GRCm39) |
P412L |
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 |
|
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'- TGGATGATGGACTGCAGCTC -3'
(R):5'- TGCATGTGTCAGGAAATGGATATG -3'
Sequencing Primer
(F):5'- GATGGACTGCAGCTCCTGAATTTTC -3'
(R):5'- CTCACCTAGTAAGATGGACTGGCTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation