Incidental Mutation 'R4877:Card11'
ID |
374984 |
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 |
042486-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4877 (G1)
|
Quality Score |
193 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140871632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 690
(S690G)
|
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: S690G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526 AA Change: S690G
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 |
0.1325 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
100% (76/76) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,258,421 (GRCm39) |
Y475H |
probably damaging |
Het |
Adamts12 |
G |
T |
15: 11,327,787 (GRCm39) |
G1388V |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Arhgap26 |
T |
C |
18: 39,429,982 (GRCm39) |
|
probably null |
Het |
Atp7b |
T |
A |
8: 22,518,617 (GRCm39) |
I74F |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,977,337 (GRCm39) |
Y1326H |
probably benign |
Het |
Cbx3 |
A |
G |
6: 51,459,540 (GRCm39) |
E169G |
possibly damaging |
Het |
Cd28 |
A |
T |
1: 60,808,861 (GRCm39) |
M192L |
possibly damaging |
Het |
Chd6 |
T |
C |
2: 160,871,219 (GRCm39) |
|
probably benign |
Het |
Cyp2c69 |
C |
T |
19: 39,866,056 (GRCm39) |
C179Y |
probably damaging |
Het |
Cyp7b1 |
A |
T |
3: 18,151,457 (GRCm39) |
V252E |
probably damaging |
Het |
Dcp2 |
G |
T |
18: 44,550,659 (GRCm39) |
G378C |
probably benign |
Het |
Dip2b |
A |
T |
15: 100,058,410 (GRCm39) |
I196L |
possibly damaging |
Het |
Erbin |
G |
A |
13: 103,987,346 (GRCm39) |
P405S |
probably damaging |
Het |
Etv1 |
A |
G |
12: 38,881,292 (GRCm39) |
|
probably null |
Het |
F830104G03Rik |
T |
G |
3: 56,797,917 (GRCm39) |
K33T |
unknown |
Het |
Fbln2 |
C |
A |
6: 91,210,477 (GRCm39) |
H140Q |
probably damaging |
Het |
Fxr1 |
A |
G |
3: 34,101,847 (GRCm39) |
T109A |
probably damaging |
Het |
Gm10110 |
T |
C |
14: 90,134,785 (GRCm39) |
|
noncoding transcript |
Het |
Gm9949 |
C |
T |
18: 62,317,140 (GRCm39) |
|
probably benign |
Het |
Grin2d |
A |
G |
7: 45,504,039 (GRCm39) |
L604P |
probably damaging |
Het |
Gstcd |
A |
T |
3: 132,711,314 (GRCm39) |
|
probably benign |
Het |
Ifna16 |
A |
G |
4: 88,594,681 (GRCm39) |
V138A |
probably benign |
Het |
Itpr2 |
T |
A |
6: 146,226,703 (GRCm39) |
N1314I |
probably damaging |
Het |
Kitl |
T |
C |
10: 99,916,728 (GRCm39) |
V177A |
probably damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,790,488 (GRCm39) |
Q185L |
probably damaging |
Het |
Lhx9 |
T |
A |
1: 138,766,092 (GRCm39) |
N232I |
probably benign |
Het |
Lnx1 |
T |
C |
5: 74,788,784 (GRCm39) |
R111G |
probably benign |
Het |
Lrrc41 |
A |
G |
4: 115,936,602 (GRCm39) |
I72M |
probably damaging |
Het |
Lrriq1 |
T |
A |
10: 103,069,899 (GRCm39) |
D39V |
possibly damaging |
Het |
Lyrm7 |
A |
G |
11: 54,731,936 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,857,734 (GRCm39) |
Y2508N |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,687,328 (GRCm39) |
Y70F |
probably benign |
Het |
Mc4r |
T |
C |
18: 66,992,409 (GRCm39) |
I235V |
probably benign |
Het |
Med12l |
G |
A |
3: 59,152,214 (GRCm39) |
V1000M |
probably damaging |
Het |
Morc2b |
T |
C |
17: 33,357,712 (GRCm39) |
H20R |
probably benign |
Het |
Ms4a1 |
A |
T |
19: 11,231,857 (GRCm39) |
S173T |
probably damaging |
Het |
Myh13 |
A |
C |
11: 67,228,477 (GRCm39) |
D339A |
probably damaging |
Het |
Nars1 |
A |
T |
18: 64,633,643 (GRCm39) |
Y542* |
probably null |
Het |
Nectin2 |
G |
A |
7: 19,451,645 (GRCm39) |
T463I |
possibly damaging |
Het |
Nrg4 |
A |
G |
9: 55,166,679 (GRCm39) |
F64L |
probably benign |
Het |
Nrxn1 |
T |
A |
17: 91,395,605 (GRCm39) |
I184F |
probably benign |
Het |
Nxph2 |
C |
T |
2: 23,289,846 (GRCm39) |
P66L |
probably benign |
Het |
Or10ag2 |
C |
T |
2: 87,248,907 (GRCm39) |
Q170* |
probably null |
Het |
Or2v1 |
C |
A |
11: 49,025,608 (GRCm39) |
F196L |
probably damaging |
Het |
Pard3 |
A |
T |
8: 128,115,018 (GRCm39) |
T579S |
probably damaging |
Het |
Patj |
A |
G |
4: 98,457,295 (GRCm39) |
I48V |
possibly damaging |
Het |
Paxbp1 |
T |
C |
16: 90,841,199 (GRCm39) |
|
probably benign |
Het |
Pou2f3 |
A |
T |
9: 43,050,618 (GRCm39) |
N235K |
possibly damaging |
Het |
Ppp2r2c |
A |
G |
5: 37,026,214 (GRCm39) |
D17G |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,568,633 (GRCm39) |
|
probably benign |
Het |
Rnd3 |
A |
G |
2: 51,038,762 (GRCm39) |
V42A |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,263,620 (GRCm39) |
R247G |
probably benign |
Het |
Sec31b |
A |
T |
19: 44,524,172 (GRCm39) |
V156D |
probably damaging |
Het |
Slc22a2 |
T |
A |
17: 12,833,702 (GRCm39) |
Y461N |
possibly damaging |
Het |
Spag6l |
T |
C |
16: 16,599,622 (GRCm39) |
K280R |
possibly damaging |
Het |
Spata31d1a |
A |
G |
13: 59,850,337 (GRCm39) |
L597P |
probably damaging |
Het |
Srr |
G |
T |
11: 74,798,606 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
Tgif1 |
A |
C |
17: 71,156,700 (GRCm39) |
|
probably null |
Het |
Tle3 |
A |
T |
9: 61,280,781 (GRCm39) |
|
probably benign |
Het |
Tubgcp4 |
A |
G |
2: 121,020,343 (GRCm39) |
T439A |
probably benign |
Het |
Twist1 |
C |
T |
12: 34,008,350 (GRCm39) |
T125M |
probably damaging |
Het |
Unc13a |
T |
A |
8: 72,111,260 (GRCm39) |
D317V |
possibly damaging |
Het |
Vmn1r227 |
T |
A |
17: 20,955,407 (GRCm39) |
|
noncoding transcript |
Het |
Vps72 |
G |
T |
3: 95,025,498 (GRCm39) |
|
probably benign |
Het |
Zfp184 |
T |
C |
13: 22,144,498 (GRCm39) |
S735P |
possibly damaging |
Het |
Zfp42 |
A |
T |
8: 43,748,725 (GRCm39) |
C259S |
possibly damaging |
Het |
Zmiz2 |
A |
G |
11: 6,353,251 (GRCm39) |
H678R |
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 |
|
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'- TTAAGGCTGCTTCCCACTGG -3'
(R):5'- AACCTACTAGCATGTTCAGCTC -3'
Sequencing Primer
(F):5'- TGGAGCATCCATCATCAGAC -3'
(R):5'- AGCATGTTCAGCTCTTCTCTTTTGAG -3'
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Posted On |
2016-03-17 |