Incidental Mutation 'R8224:Card11'
| ID |
636884 |
| 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 |
067660-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8224 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140888632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 242
(E242G)
|
| 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: E242G
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: E242G
| 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 |
|
| Meta Mutation Damage Score |
0.1909 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,094,249 (GRCm39) |
E45V |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,773,351 (GRCm39) |
V1754D |
probably damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,502,716 (GRCm39) |
T818M |
probably damaging |
Het |
| Cdh20 |
G |
T |
1: 109,921,933 (GRCm39) |
L8F |
probably benign |
Het |
| Cenpa |
T |
C |
5: 30,830,699 (GRCm39) |
|
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,781,800 (GRCm39) |
V11A |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,308,109 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
A |
T |
15: 55,271,137 (GRCm39) |
Y630F |
unknown |
Het |
| Cst5 |
A |
G |
2: 149,251,902 (GRCm39) |
N126D |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,354,688 (GRCm39) |
T1903A |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,802,449 (GRCm39) |
E1020G |
probably damaging |
Het |
| Gp1ba |
A |
G |
11: 70,530,683 (GRCm39) |
N150D |
unknown |
Het |
| Gstm2 |
T |
C |
3: 107,891,314 (GRCm39) |
I169V |
probably benign |
Het |
| Ighv1-75 |
A |
T |
12: 115,797,859 (GRCm39) |
V21D |
probably benign |
Het |
| Il7 |
T |
C |
3: 7,642,308 (GRCm39) |
M51V |
possibly damaging |
Het |
| Insm2 |
A |
T |
12: 55,646,763 (GRCm39) |
D169V |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,080,628 (GRCm39) |
D373G |
noncoding transcript |
Het |
| Kif16b |
T |
C |
2: 142,676,008 (GRCm39) |
N431D |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,719,326 (GRCm39) |
I3925S |
unknown |
Het |
| Lgi4 |
G |
A |
7: 30,763,017 (GRCm39) |
C164Y |
probably damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,192 (GRCm39) |
I494F |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,266,370 (GRCm39) |
I5T |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,706,144 (GRCm39) |
V252A |
possibly damaging |
Het |
| Nlrp4g |
A |
T |
9: 124,353,374 (GRCm38) |
I573F |
noncoding transcript |
Het |
| Nrn1 |
G |
A |
13: 36,918,258 (GRCm39) |
L3F |
probably damaging |
Het |
| Or1ab2 |
A |
G |
8: 72,864,223 (GRCm39) |
D271G |
noncoding transcript |
Het |
| Or2d2 |
T |
A |
7: 106,728,079 (GRCm39) |
I174F |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,919,117 (GRCm39) |
D79E |
unknown |
Het |
| Or6c8 |
A |
G |
10: 128,915,304 (GRCm39) |
F176S |
possibly damaging |
Het |
| Otop1 |
C |
A |
5: 38,457,846 (GRCm39) |
T535K |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,023,380 (GRCm39) |
T333A |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,098,327 (GRCm39) |
Y354C |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,320,348 (GRCm39) |
S1448P |
probably damaging |
Het |
| Pias4 |
C |
A |
10: 81,003,565 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
T |
C |
1: 134,830,200 (GRCm39) |
N113S |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,203,656 (GRCm39) |
P374Q |
probably damaging |
Het |
| Reg4 |
A |
T |
3: 98,132,011 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
T |
C |
14: 31,099,473 (GRCm39) |
D256G |
probably damaging |
Het |
| Slc25a32 |
C |
G |
15: 38,976,015 (GRCm39) |
|
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,671,003 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,049 (GRCm39) |
|
probably null |
Het |
| Washc2 |
A |
C |
6: 116,218,457 (GRCm39) |
K634T |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,443,513 (GRCm39) |
Y405N |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,816,417 (GRCm39) |
Y365H |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,577,536 (GRCm39) |
E202V |
probably damaging |
Het |
| Zfp932 |
T |
C |
5: 110,144,480 (GRCm39) |
|
probably benign |
Het |
| Zfp947 |
A |
C |
17: 22,364,363 (GRCm39) |
M437R |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,828,366 (GRCm39) |
T303A |
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 |
|
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 |
|
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'- TAGCCCTCCCCTATACAAGG -3'
(R):5'- CATTGCATGTGTCAGGAAATGG -3'
Sequencing Primer
(F):5'- CTATACAAGGGTGGTGCGTCTCAC -3'
(R):5'- CTCACCTAGTAAGATGGACTGGCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation