Incidental Mutation 'IGL01935:Card11'
ID |
180605 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Card11
|
Ensembl Gene |
ENSMUSG00000036526 |
Gene Name |
caspase recruitment domain family, member 11 |
Synonyms |
2410011D02Rik, BIMP3, CARMA1, 0610008L17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01935
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140869301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 832
(I832F)
|
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: I832F
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526 AA Change: I832F
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
|
Coding Region Coverage |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp2 |
C |
T |
6: 140,583,383 (GRCm39) |
|
probably benign |
Het |
Akr1c12 |
A |
T |
13: 4,322,244 (GRCm39) |
V266E |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,621,307 (GRCm39) |
T186A |
probably damaging |
Het |
Atp8b5 |
A |
G |
4: 43,366,638 (GRCm39) |
T801A |
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,895,296 (GRCm39) |
|
probably null |
Het |
Ccdc180 |
A |
G |
4: 45,906,889 (GRCm39) |
T455A |
possibly damaging |
Het |
Cfhr1 |
T |
A |
1: 139,478,740 (GRCm39) |
Y210F |
probably benign |
Het |
Chrna5 |
T |
C |
9: 54,912,127 (GRCm39) |
V309A |
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,345,521 (GRCm39) |
V609A |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,037,126 (GRCm39) |
D3372G |
probably benign |
Het |
Dtymk |
T |
C |
1: 93,722,465 (GRCm39) |
K113E |
probably benign |
Het |
Eef2k |
T |
C |
7: 120,485,054 (GRCm39) |
F307S |
probably damaging |
Het |
Flnc |
T |
A |
6: 29,454,279 (GRCm39) |
V1864E |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,803,541 (GRCm39) |
Y2192C |
probably benign |
Het |
Hkdc1 |
A |
T |
10: 62,236,165 (GRCm39) |
V459E |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,360,951 (GRCm39) |
D969G |
probably damaging |
Het |
Irf3 |
A |
G |
7: 44,650,194 (GRCm39) |
T237A |
probably benign |
Het |
Jade2 |
G |
A |
11: 51,719,211 (GRCm39) |
T245I |
possibly damaging |
Het |
Kctd8 |
A |
G |
5: 69,497,707 (GRCm39) |
I313T |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,385,284 (GRCm39) |
S835R |
probably benign |
Het |
Lama2 |
A |
C |
10: 27,298,600 (GRCm39) |
H165Q |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,158,367 (GRCm39) |
N1617Y |
probably damaging |
Het |
Mcc |
C |
T |
18: 44,652,583 (GRCm39) |
|
probably null |
Het |
Mfsd14b |
T |
A |
13: 65,215,739 (GRCm39) |
M405L |
probably benign |
Het |
Myom3 |
T |
A |
4: 135,515,692 (GRCm39) |
F794I |
probably damaging |
Het |
Napsa |
G |
T |
7: 44,236,046 (GRCm39) |
A362S |
probably benign |
Het |
Ncf4 |
A |
T |
15: 78,140,186 (GRCm39) |
D195V |
probably damaging |
Het |
Or11g1 |
T |
C |
14: 50,651,012 (GRCm39) |
F4L |
probably benign |
Het |
Pank4 |
T |
G |
4: 155,063,987 (GRCm39) |
D659E |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 81,964,590 (GRCm39) |
D252E |
probably benign |
Het |
Pglyrp2 |
G |
A |
17: 32,637,551 (GRCm39) |
A159V |
probably benign |
Het |
Phaf1 |
T |
C |
8: 105,966,633 (GRCm39) |
F127L |
probably damaging |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Ppfia4 |
A |
G |
1: 134,245,674 (GRCm39) |
S627P |
probably benign |
Het |
Ppp1r15b |
T |
C |
1: 133,059,761 (GRCm39) |
F93L |
probably benign |
Het |
Pramel13 |
C |
T |
4: 144,119,172 (GRCm39) |
|
probably benign |
Het |
Qrfpr |
A |
T |
3: 36,235,200 (GRCm39) |
|
probably null |
Het |
Rapgef4 |
C |
A |
2: 72,064,467 (GRCm39) |
T623K |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,501,668 (GRCm39) |
T184A |
possibly damaging |
Het |
Ssrp1 |
T |
C |
2: 84,877,056 (GRCm39) |
*709Q |
probably null |
Het |
St7 |
T |
G |
6: 17,930,822 (GRCm39) |
I442S |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,972,087 (GRCm39) |
H992Q |
probably damaging |
Het |
Syt14 |
T |
C |
1: 192,615,679 (GRCm39) |
R436G |
probably damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,270,793 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
A |
6: 12,317,418 (GRCm39) |
N1630I |
probably damaging |
Het |
Tinagl1 |
T |
C |
4: 130,061,794 (GRCm39) |
K180R |
probably damaging |
Het |
Tmed7 |
T |
C |
18: 46,730,190 (GRCm39) |
T54A |
probably benign |
Het |
Tmprss2 |
A |
T |
16: 97,379,795 (GRCm39) |
Y48* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,020,069 (GRCm39) |
|
probably null |
Het |
Unc13d |
T |
C |
11: 115,960,577 (GRCm39) |
M496V |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zbtb39 |
A |
G |
10: 127,578,235 (GRCm39) |
T270A |
probably benign |
Het |
Zfr |
T |
C |
15: 12,180,798 (GRCm39) |
S976P |
probably benign |
Het |
Zscan29 |
A |
G |
2: 121,000,538 (GRCm39) |
F23S |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |