Incidental Mutation 'PIT4486001:Card11'
ID |
556097 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4486001 (G1)
|
Quality Score |
177.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 140862163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 1045
(V1045M)
|
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: V1045M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526 AA Change: V1045M
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 |
|
Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.5%
- 10x: 84.1%
- 20x: 70.1%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
C |
5: 144,980,914 (GRCm39) |
S108P |
probably damaging |
Het |
Abhd16b |
A |
T |
2: 181,135,752 (GRCm39) |
Q218L |
probably benign |
Het |
Abhd3 |
T |
A |
18: 10,645,233 (GRCm39) |
I354F |
probably benign |
Het |
Abt1 |
T |
C |
13: 23,607,851 (GRCm39) |
Y51C |
possibly damaging |
Het |
Actl9 |
T |
A |
17: 33,653,172 (GRCm39) |
Y411N |
possibly damaging |
Het |
Ano4 |
A |
G |
10: 88,828,891 (GRCm39) |
V516A |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,945,614 (GRCm39) |
S2542T |
probably damaging |
Het |
Ccdc121 |
T |
A |
5: 31,645,087 (GRCm39) |
I280K |
probably damaging |
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Cdh3 |
A |
G |
8: 107,268,122 (GRCm39) |
K386E |
possibly damaging |
Het |
Cks1b |
C |
A |
3: 89,323,621 (GRCm39) |
Q49H |
probably damaging |
Het |
Clpb |
A |
T |
7: 101,313,139 (GRCm39) |
D41V |
probably benign |
Het |
Cyp3a11 |
A |
T |
5: 145,797,302 (GRCm39) |
M359K |
probably damaging |
Het |
Cyp3a13 |
A |
T |
5: 137,908,228 (GRCm39) |
I207N |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,717,701 (GRCm39) |
L566* |
probably null |
Het |
Dhtkd1 |
A |
T |
2: 5,904,806 (GRCm39) |
D859E |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,857,514 (GRCm39) |
D295G |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,774,698 (GRCm39) |
T91A |
possibly damaging |
Het |
Gm11569 |
GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA |
GCA |
11: 99,689,491 (GRCm39) |
|
probably benign |
Het |
Gsdma3 |
A |
G |
11: 98,528,880 (GRCm39) |
K454E |
unknown |
Het |
Herc1 |
T |
A |
9: 66,279,671 (GRCm39) |
I193N |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,556,423 (GRCm39) |
L1370Q |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,509,027 (GRCm39) |
H980Q |
unknown |
Het |
Map4 |
T |
G |
9: 109,901,682 (GRCm39) |
V965G |
probably damaging |
Het |
Mkrn2os |
T |
C |
6: 115,562,444 (GRCm39) |
D173G |
probably benign |
Het |
Ndfip2 |
A |
G |
14: 105,532,300 (GRCm39) |
D232G |
probably damaging |
Het |
Nipal2 |
C |
T |
15: 34,584,875 (GRCm39) |
G231D |
probably damaging |
Het |
Notch3 |
A |
T |
17: 32,373,737 (GRCm39) |
N490K |
probably damaging |
Het |
Or5p68 |
A |
G |
7: 107,945,529 (GRCm39) |
S220P |
possibly damaging |
Het |
Or8g50 |
T |
A |
9: 39,648,535 (GRCm39) |
C141* |
probably null |
Het |
Prkar2a |
T |
C |
9: 108,610,326 (GRCm39) |
L185S |
probably damaging |
Het |
Ptpn9 |
T |
G |
9: 56,968,287 (GRCm39) |
N542K |
probably damaging |
Het |
Pus10 |
G |
A |
11: 23,662,326 (GRCm39) |
|
probably null |
Het |
Pyroxd2 |
A |
G |
19: 42,728,828 (GRCm39) |
S191P |
probably benign |
Het |
Rab15 |
T |
A |
12: 76,848,716 (GRCm39) |
K122* |
probably null |
Het |
Rara |
A |
G |
11: 98,864,321 (GRCm39) |
N416S |
possibly damaging |
Het |
Rims2 |
T |
C |
15: 39,339,916 (GRCm39) |
V870A |
possibly damaging |
Het |
Sec16a |
T |
C |
2: 26,315,785 (GRCm39) |
T293A |
|
Het |
Slc26a3 |
G |
A |
12: 31,520,949 (GRCm39) |
D718N |
probably benign |
Het |
Slc44a5 |
G |
A |
3: 153,964,659 (GRCm39) |
V520I |
possibly damaging |
Het |
Spata31e2 |
G |
A |
1: 26,724,410 (GRCm39) |
P257S |
probably damaging |
Het |
Tgfb2 |
A |
T |
1: 186,422,924 (GRCm39) |
Y142N |
probably benign |
Het |
Tgfbi |
A |
T |
13: 56,777,607 (GRCm39) |
I364F |
probably damaging |
Het |
Tmem144 |
A |
C |
3: 79,734,174 (GRCm39) |
D176E |
probably benign |
Het |
Tns4 |
A |
T |
11: 98,962,161 (GRCm39) |
L612Q |
probably damaging |
Het |
Toe1 |
A |
G |
4: 116,663,692 (GRCm39) |
L76S |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,219,175 (GRCm39) |
F1971L |
probably damaging |
Het |
Tsen54 |
G |
T |
11: 115,713,422 (GRCm39) |
V481F |
probably damaging |
Het |
Uimc1 |
A |
G |
13: 55,223,381 (GRCm39) |
L297P |
probably damaging |
Het |
Wnt8a |
T |
C |
18: 34,680,636 (GRCm39) |
Y334H |
probably damaging |
Het |
Zfp281 |
A |
G |
1: 136,554,741 (GRCm39) |
D573G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCTGACATGAACCAACACCAG -3'
(R):5'- GGCCTGGAAGAGACAACCC -3'
Sequencing Primer
(F):5'- CAGGACACTGGCAGAAACAG -3'
(R):5'- TGGAAGAGACAACCCACCAC -3'
|
Posted On |
2019-06-07 |