Incidental Mutation 'R0046:Card11'
| ID |
43701 |
| 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 |
038340-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140894279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 117
(T117A)
|
| 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: T117A
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: T117A
| 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
|
| Meta Mutation Damage Score |
0.0781 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
100% (83/83) |
| 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 |
|---|
| Actl7a |
A |
T |
4: 56,743,877 (GRCm39) |
K135* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,911,579 (GRCm39) |
S871P |
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,367,403 (GRCm39) |
I558F |
probably damaging |
Het |
| Adsl |
T |
G |
15: 80,846,989 (GRCm39) |
|
probably null |
Het |
| Aldob |
T |
C |
4: 49,543,842 (GRCm39) |
I47V |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,343,247 (GRCm39) |
E46G |
probably damaging |
Het |
| Ankrd33b |
G |
A |
15: 31,367,483 (GRCm39) |
P19L |
probably damaging |
Het |
| Apoa5 |
T |
C |
9: 46,181,296 (GRCm39) |
L124S |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,067,664 (GRCm39) |
L533Q |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,550,011 (GRCm39) |
T9A |
probably benign |
Het |
| Auh |
G |
A |
13: 53,083,421 (GRCm39) |
|
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,567 (GRCm39) |
Y267C |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,898,301 (GRCm39) |
F15L |
possibly damaging |
Het |
| Chtf18 |
C |
T |
17: 25,942,434 (GRCm39) |
R468Q |
probably benign |
Het |
| Cntnap5c |
T |
G |
17: 58,666,295 (GRCm39) |
D1108E |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,272,359 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,626,047 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,251,280 (GRCm39) |
A317T |
possibly damaging |
Het |
| Cpt1c |
A |
T |
7: 44,609,256 (GRCm39) |
|
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,761,559 (GRCm39) |
|
probably null |
Het |
| Crebrf |
T |
A |
17: 26,982,308 (GRCm39) |
L565M |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,666,236 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx9 |
C |
T |
1: 153,348,453 (GRCm39) |
V291M |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,011,149 (GRCm39) |
V1102E |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,496,033 (GRCm39) |
|
probably null |
Het |
| Dock4 |
G |
A |
12: 40,787,359 (GRCm39) |
|
probably benign |
Het |
| Dpp3 |
G |
T |
19: 4,964,671 (GRCm39) |
N545K |
probably damaging |
Het |
| Elmo2 |
T |
A |
2: 165,140,646 (GRCm39) |
N275I |
probably damaging |
Het |
| Farp1 |
A |
G |
14: 121,492,925 (GRCm39) |
K509R |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,877,275 (GRCm39) |
Y3446C |
possibly damaging |
Het |
| Fgd2 |
T |
A |
17: 29,593,964 (GRCm39) |
|
probably benign |
Het |
| Flg |
T |
A |
3: 93,185,028 (GRCm39) |
|
probably benign |
Het |
| Gas2l2 |
A |
T |
11: 83,312,736 (GRCm39) |
W859R |
probably damaging |
Het |
| Gatm |
T |
C |
2: 122,431,225 (GRCm39) |
D254G |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,998 (GRCm39) |
I27F |
probably damaging |
Het |
| Gsdmc2 |
C |
A |
15: 63,699,604 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,353,605 (GRCm39) |
V591I |
probably benign |
Het |
| Kcnab3 |
G |
A |
11: 69,221,053 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
A |
G |
1: 32,658,283 (GRCm39) |
D281G |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,283 (GRCm39) |
M393L |
probably benign |
Het |
| Limk1 |
T |
C |
5: 134,701,615 (GRCm39) |
Y96C |
probably damaging |
Het |
| Lrp2bp |
T |
A |
8: 46,466,192 (GRCm39) |
Y100* |
probably null |
Het |
| Mamstr |
T |
G |
7: 45,291,194 (GRCm39) |
|
probably benign |
Het |
| Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,929,591 (GRCm39) |
P1672S |
possibly damaging |
Het |
| Mboat7 |
T |
C |
7: 3,686,817 (GRCm39) |
Y341C |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,401,417 (GRCm39) |
N881I |
probably damaging |
Het |
| Nox3 |
T |
C |
17: 3,733,236 (GRCm39) |
Y225C |
probably benign |
Het |
| Nrp1 |
C |
T |
8: 129,227,089 (GRCm39) |
|
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,596 (GRCm39) |
*312K |
probably null |
Het |
| Or4c109 |
C |
T |
2: 88,817,693 (GRCm39) |
M284I |
probably benign |
Het |
| Or4c35 |
C |
T |
2: 89,808,851 (GRCm39) |
T243I |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or8k33 |
A |
G |
2: 86,383,976 (GRCm39) |
F164S |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,310 (GRCm39) |
M563L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,590,493 (GRCm39) |
T931M |
unknown |
Het |
| Peli2 |
C |
T |
14: 48,358,659 (GRCm39) |
P16S |
possibly damaging |
Het |
| Pfas |
G |
T |
11: 68,881,293 (GRCm39) |
R1025S |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,953,307 (GRCm39) |
I1196N |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,262,617 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,837 (GRCm39) |
T279A |
possibly damaging |
Het |
| Psma1 |
A |
T |
7: 113,866,440 (GRCm39) |
|
probably benign |
Het |
| Rab11fip1 |
A |
G |
8: 27,643,149 (GRCm39) |
L550P |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
| Rmnd5a |
T |
C |
6: 71,376,215 (GRCm39) |
H195R |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,708,830 (GRCm39) |
L750P |
probably damaging |
Het |
| Rtcb |
T |
C |
10: 85,793,520 (GRCm39) |
N18D |
probably benign |
Het |
| Seh1l |
T |
C |
18: 67,925,086 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
G |
3: 72,839,427 (GRCm39) |
N813T |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,795,405 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,281,285 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Taok3 |
C |
T |
5: 117,410,294 (GRCm39) |
Q829* |
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,679,095 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,781,886 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,091,940 (GRCm39) |
E1756G |
probably damaging |
Het |
| Usp35 |
A |
T |
7: 96,962,804 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
A |
G |
17: 22,766,990 (GRCm39) |
F836L |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,451,146 (GRCm39) |
D344G |
possibly damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,714,589 (GRCm39) |
C1067R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTGGCAAAGTGACCCCTGGAG -3'
(R):5'- AGACACAGGGCCTGTCATCCAATC -3'
Sequencing Primer
(F):5'- gcataaactcacatgcacacac -3'
(R):5'- GGCCTGTCATCCAATCAAACAC -3'
|
| Posted On |
2013-05-29 |
Incidental Mutation