Incidental Mutation 'R7376:Card11'
| ID |
572382 |
| 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 |
045459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140883993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 429
(V429I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085786
AA Change: V429I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: V429I
| 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 |
0.0592 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (60/61) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,118 (GRCm39) |
I994V |
probably benign |
Het |
| Acan |
T |
G |
7: 78,738,055 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
G |
A |
15: 11,277,425 (GRCm39) |
V680I |
possibly damaging |
Het |
| Adgrg7 |
T |
C |
16: 56,545,342 (GRCm39) |
I712V |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,942,597 (GRCm39) |
H1477R |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,599,088 (GRCm39) |
S1305P |
probably benign |
Het |
| Banp |
T |
A |
8: 122,701,236 (GRCm39) |
M39K |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,135,111 (GRCm39) |
T75A |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| Bltp3b |
G |
A |
10: 89,645,518 (GRCm39) |
G1197D |
probably damaging |
Het |
| Brinp2 |
C |
T |
1: 158,078,938 (GRCm39) |
C295Y |
probably damaging |
Het |
| Cdca3 |
G |
A |
6: 124,809,538 (GRCm39) |
R184H |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,067,509 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
G |
4: 126,484,430 (GRCm39) |
K1196R |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,894,994 (GRCm39) |
T89A |
possibly damaging |
Het |
| Cpne9 |
A |
T |
6: 113,266,974 (GRCm39) |
I136L |
probably damaging |
Het |
| Crat |
T |
A |
2: 30,296,477 (GRCm39) |
I330F |
probably damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,615,697 (GRCm39) |
Q413K |
possibly damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,151,238 (GRCm39) |
E1220G |
probably damaging |
Het |
| Dap |
A |
G |
15: 31,235,985 (GRCm39) |
D41G |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,590,967 (GRCm39) |
I3287V |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,356,819 (GRCm39) |
H233R |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,231,770 (GRCm39) |
I3121T |
probably benign |
Het |
| Espnl |
T |
G |
1: 91,250,036 (GRCm39) |
L61R |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,527,983 (GRCm39) |
S331P |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,050,344 (GRCm39) |
E535G |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,043,084 (GRCm39) |
I650T |
possibly damaging |
Het |
| Iyd |
T |
A |
10: 3,495,690 (GRCm39) |
I116N |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,553,792 (GRCm39) |
L1002S |
probably damaging |
Het |
| Kifbp |
C |
T |
10: 62,394,843 (GRCm39) |
V600I |
possibly damaging |
Het |
| Lgi1 |
G |
A |
19: 38,272,468 (GRCm39) |
G113D |
probably damaging |
Het |
| Lgi2 |
G |
A |
5: 52,695,604 (GRCm39) |
R452C |
probably damaging |
Het |
| Man2b2 |
T |
G |
5: 36,970,722 (GRCm39) |
N764T |
probably damaging |
Het |
| Mrps18b |
A |
G |
17: 36,221,587 (GRCm39) |
I246T |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,426,287 (GRCm39) |
T4795A |
possibly damaging |
Het |
| Mybl2 |
G |
A |
2: 162,924,513 (GRCm39) |
G627D |
possibly damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,794 (GRCm39) |
R16K |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,121 (GRCm39) |
V271E |
possibly damaging |
Het |
| P4htm |
C |
T |
9: 108,457,991 (GRCm39) |
V335M |
probably damaging |
Het |
| Pbx3 |
A |
G |
2: 34,094,889 (GRCm39) |
I249T |
probably damaging |
Het |
| Plod3 |
G |
T |
5: 137,019,335 (GRCm39) |
V360L |
probably benign |
Het |
| Podxl2 |
C |
T |
6: 88,826,632 (GRCm39) |
D161N |
probably benign |
Het |
| Polr1b |
G |
T |
2: 128,960,993 (GRCm39) |
V651L |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,075,749 (GRCm39) |
S586P |
probably benign |
Het |
| Pum3 |
C |
T |
19: 27,371,728 (GRCm39) |
G575D |
probably benign |
Het |
| Rnf157 |
C |
A |
11: 116,251,192 (GRCm39) |
A111S |
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,344,212 (GRCm39) |
L29P |
probably damaging |
Het |
| Smarca5 |
T |
C |
8: 81,452,680 (GRCm39) |
N342S |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,009,078 (GRCm39) |
I198K |
probably benign |
Het |
| Tmem177 |
A |
T |
1: 119,837,744 (GRCm39) |
*312R |
probably null |
Het |
| Tom1l2 |
A |
T |
11: 60,152,026 (GRCm39) |
M172K |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,756,414 (GRCm39) |
V3A |
unknown |
Het |
| Vmn1r128 |
G |
T |
7: 21,083,668 (GRCm39) |
G124V |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,342 (GRCm39) |
I70T |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,631 (GRCm39) |
T665A |
probably damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,314,790 (GRCm39) |
F346S |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,910,691 (GRCm39) |
D694E |
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 |
|
|
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 |
|
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'- GAATGTCACTGAAATGCCTAACTTTAA -3'
(R):5'- GGTGAACCCGTAGCTCTTC -3'
Sequencing Primer
(F):5'- CACACACACACATAGTAGTAGAGG -3'
(R):5'- CGTAGCTCTTCCTTGGCAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation