Incidental Mutation 'R9444:Card11'
| ID |
713806 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140894393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 79
(I79F)
|
| 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: I79F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: I79F
| 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: ENSMUST00000199091
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,854,724 (GRCm39) |
D106G |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,384,020 (GRCm39) |
I2183T |
probably damaging |
Het |
| Adam17 |
A |
C |
12: 21,375,536 (GRCm39) |
L761R |
probably benign |
Het |
| Apobr |
A |
G |
7: 126,185,140 (GRCm39) |
D217G |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,052,909 (GRCm39) |
Y434* |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,855,180 (GRCm39) |
D416G |
possibly damaging |
Het |
| C1qtnf2 |
T |
C |
11: 43,376,661 (GRCm39) |
I11T |
probably damaging |
Het |
| C1qtnf6 |
C |
T |
15: 78,411,544 (GRCm39) |
C44Y |
probably damaging |
Het |
| Cacna1d |
A |
C |
14: 29,829,741 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,075,385 (GRCm39) |
D490G |
|
Het |
| Cilp2 |
T |
C |
8: 70,335,546 (GRCm39) |
D484G |
probably damaging |
Het |
| Col8a1 |
C |
A |
16: 57,448,455 (GRCm39) |
G352* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,208,250 (GRCm39) |
F1235S |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,607,127 (GRCm39) |
D2260E |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,318,347 (GRCm39) |
F430L |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,778,455 (GRCm39) |
I485K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,560,265 (GRCm39) |
V1414A |
probably benign |
Het |
| Galnt13 |
C |
A |
2: 55,002,928 (GRCm39) |
S578R |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,203,751 (GRCm39) |
M300K |
possibly damaging |
Het |
| Gm12695 |
C |
T |
4: 96,612,195 (GRCm39) |
A523T |
probably damaging |
Het |
| Gm19965 |
T |
C |
1: 116,732,393 (GRCm39) |
S79P |
|
Het |
| Hsf1 |
T |
C |
15: 76,384,769 (GRCm39) |
S487P |
probably damaging |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Jag1 |
A |
C |
2: 136,936,397 (GRCm39) |
W366G |
probably damaging |
Het |
| Larp4 |
T |
C |
15: 99,909,807 (GRCm39) |
S638P |
probably benign |
Het |
| Lipm |
A |
G |
19: 34,098,690 (GRCm39) |
D388G |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,013,730 (GRCm39) |
Y1925F |
|
Het |
| Lrrc37 |
G |
A |
11: 103,508,846 (GRCm39) |
Q1041* |
probably null |
Het |
| Mchr1 |
T |
C |
15: 81,121,919 (GRCm39) |
V223A |
possibly damaging |
Het |
| Mfrp |
T |
A |
9: 44,017,440 (GRCm39) |
I505N |
probably damaging |
Het |
| Msc |
T |
C |
1: 14,825,714 (GRCm39) |
K87E |
probably damaging |
Het |
| Myo7a |
A |
G |
7: 97,742,698 (GRCm39) |
F433L |
possibly damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,370,863 (GRCm39) |
R4H |
probably damaging |
Het |
| Ntrk3 |
G |
A |
7: 78,110,805 (GRCm39) |
L299F |
probably damaging |
Het |
| Nup210 |
T |
A |
6: 91,048,885 (GRCm39) |
Y457F |
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,869 (GRCm39) |
K90E |
|
Het |
| Or4k48 |
T |
C |
2: 111,476,132 (GRCm39) |
D70G |
probably damaging |
Het |
| Or5h18 |
T |
C |
16: 58,848,018 (GRCm39) |
D84G |
probably benign |
Het |
| Or5t18 |
T |
A |
2: 86,636,486 (GRCm39) |
I286F |
|
Het |
| Or8g32 |
A |
G |
9: 39,305,365 (GRCm39) |
N90D |
probably benign |
Het |
| Ovgp1 |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
3: 105,893,841 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,478,176 (GRCm39) |
Y217C |
probably damaging |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,418,053 (GRCm39) |
E2903G |
probably benign |
Het |
| Pnp |
T |
C |
14: 51,188,052 (GRCm39) |
V113A |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,638,157 (GRCm39) |
D309G |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,487,362 (GRCm39) |
R501G |
|
Het |
| Rfx8 |
A |
T |
1: 39,709,476 (GRCm39) |
V517D |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,325,623 (GRCm39) |
Y1509C |
|
Het |
| Rtp4 |
T |
C |
16: 23,431,836 (GRCm39) |
Y123H |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,302,625 (GRCm39) |
I717V |
possibly damaging |
Het |
| Stap2 |
A |
T |
17: 56,307,907 (GRCm39) |
V150E |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,495,414 (GRCm39) |
N96K |
probably damaging |
Het |
| Stoml2 |
T |
C |
4: 43,030,442 (GRCm39) |
T93A |
probably damaging |
Het |
| Suclg2 |
T |
C |
6: 95,543,474 (GRCm39) |
D319G |
probably damaging |
Het |
| Tcf12 |
C |
T |
9: 72,018,040 (GRCm39) |
D19N |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,581,503 (GRCm39) |
|
probably null |
Het |
| Tll1 |
T |
C |
8: 64,469,123 (GRCm39) |
Y1000C |
probably damaging |
Het |
| Trappc10 |
G |
T |
10: 78,033,612 (GRCm39) |
T985N |
probably benign |
Het |
| Trpc7 |
T |
A |
13: 56,923,968 (GRCm39) |
K794M |
possibly damaging |
Het |
| Unc5c |
G |
T |
3: 141,507,209 (GRCm39) |
|
probably null |
Het |
| Upf2 |
T |
A |
2: 6,023,755 (GRCm39) |
C702S |
unknown |
Het |
| Wdhd1 |
A |
G |
14: 47,488,324 (GRCm39) |
F728L |
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 |
|
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 |
|
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'- AGCATGCCACTATCCCTCAG -3'
(R):5'- GCTCCTGAAGACATATCTGCACG -3'
Sequencing Primer
(F):5'- TGACACGCATGTAACACACTTG -3'
(R):5'- TGAAGACATATCTGCACGCACAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation