Incidental Mutation 'IGL02070:Card14'
ID |
185796 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Card14
|
Ensembl Gene |
ENSMUSG00000013483 |
Gene Name |
caspase recruitment domain family, member 14 |
Synonyms |
Bimp2, CARMA2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL02070
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
119198594-119236201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 119235530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 988
(E988A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005173]
[ENSMUST00000053245]
[ENSMUST00000100172]
[ENSMUST00000106250]
[ENSMUST00000136523]
|
AlphaFold |
Q99KF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005173
|
SMART Domains |
Protein: ENSMUSP00000005173 Gene: ENSMUSG00000005043
Domain | Start | End | E-Value | Type |
Pfam:Sulfatase
|
23 |
328 |
2.6e-60 |
PFAM |
Pfam:Phosphodiest
|
25 |
287 |
5.2e-8 |
PFAM |
low complexity region
|
348 |
357 |
N/A |
INTRINSIC |
Pfam:DUF4976
|
400 |
477 |
1.5e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053245
AA Change: E988A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053665 Gene: ENSMUSG00000013483 AA Change: E988A
Domain | Start | End | E-Value | Type |
Pfam:CARD
|
20 |
106 |
4.1e-25 |
PFAM |
coiled coil region
|
126 |
173 |
N/A |
INTRINSIC |
low complexity region
|
240 |
250 |
N/A |
INTRINSIC |
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
coiled coil region
|
280 |
377 |
N/A |
INTRINSIC |
low complexity region
|
438 |
450 |
N/A |
INTRINSIC |
low complexity region
|
473 |
483 |
N/A |
INTRINSIC |
low complexity region
|
541 |
551 |
N/A |
INTRINSIC |
PDZ
|
578 |
657 |
5.51e-3 |
SMART |
Blast:SH3
|
676 |
735 |
4e-25 |
BLAST |
low complexity region
|
736 |
746 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
Blast:GuKc
|
826 |
989 |
4e-63 |
BLAST |
SCOP:d1kjwa2
|
855 |
994 |
2e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100172
|
SMART Domains |
Protein: ENSMUSP00000097748 Gene: ENSMUSG00000005043
Domain | Start | End | E-Value | Type |
Pfam:Sulfatase
|
23 |
250 |
1.7e-35 |
PFAM |
Pfam:Phosphodiest
|
25 |
237 |
2.7e-8 |
PFAM |
low complexity region
|
311 |
329 |
N/A |
INTRINSIC |
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106250
AA Change: E988A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101857 Gene: ENSMUSG00000013483 AA Change: E988A
Domain | Start | End | E-Value | Type |
Pfam:CARD
|
20 |
106 |
2.8e-25 |
PFAM |
coiled coil region
|
126 |
173 |
N/A |
INTRINSIC |
low complexity region
|
240 |
250 |
N/A |
INTRINSIC |
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
coiled coil region
|
280 |
377 |
N/A |
INTRINSIC |
low complexity region
|
438 |
450 |
N/A |
INTRINSIC |
low complexity region
|
473 |
483 |
N/A |
INTRINSIC |
low complexity region
|
541 |
551 |
N/A |
INTRINSIC |
PDZ
|
578 |
657 |
5.51e-3 |
SMART |
Blast:SH3
|
676 |
735 |
4e-25 |
BLAST |
low complexity region
|
736 |
746 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
Blast:GuKc
|
826 |
989 |
4e-63 |
BLAST |
SCOP:d1kjwa2
|
855 |
994 |
2e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126132
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147167
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151052
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141540
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136523
|
SMART Domains |
Protein: ENSMUSP00000115587 Gene: ENSMUSG00000005043
Domain | Start | End | E-Value | Type |
PDB:4MIV|H
|
1 |
30 |
1e-5 |
PDB |
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
A |
G |
10: 14,343,336 (GRCm39) |
Y204H |
probably damaging |
Het |
Akap13 |
C |
A |
7: 75,316,293 (GRCm39) |
T583K |
probably benign |
Het |
Alms1 |
C |
A |
6: 85,628,385 (GRCm39) |
Q2948K |
possibly damaging |
Het |
Auts2 |
C |
T |
5: 131,499,259 (GRCm39) |
R327Q |
probably damaging |
Het |
Ccl25 |
T |
C |
8: 4,398,700 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
A |
C |
3: 104,918,582 (GRCm39) |
V86G |
probably damaging |
Het |
Cyb5r2 |
G |
A |
7: 107,350,394 (GRCm39) |
T213I |
probably damaging |
Het |
Ear6 |
A |
G |
14: 52,091,903 (GRCm39) |
H150R |
probably damaging |
Het |
Ecm2 |
T |
C |
13: 49,671,846 (GRCm39) |
C116R |
probably damaging |
Het |
Gabrr2 |
G |
T |
4: 33,095,340 (GRCm39) |
E385* |
probably null |
Het |
Hyal5 |
T |
A |
6: 24,876,961 (GRCm39) |
V278D |
probably damaging |
Het |
Mboat1 |
T |
C |
13: 30,408,380 (GRCm39) |
L181P |
probably benign |
Het |
Mdm1 |
A |
G |
10: 117,982,523 (GRCm39) |
I53V |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,015,986 (GRCm39) |
Y368H |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,833,496 (GRCm39) |
V365A |
probably damaging |
Het |
Nexmif |
G |
T |
X: 103,126,817 (GRCm39) |
H1509Q |
probably benign |
Het |
Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
Obox6 |
G |
A |
7: 15,568,804 (GRCm39) |
S24L |
probably damaging |
Het |
Optc |
T |
A |
1: 133,828,914 (GRCm39) |
I178F |
probably damaging |
Het |
Or4p22 |
T |
A |
2: 88,317,346 (GRCm39) |
I90N |
probably damaging |
Het |
Or56a42-ps1 |
G |
T |
7: 104,776,254 (GRCm39) |
L85I |
probably benign |
Het |
Pcdh15 |
T |
A |
10: 74,466,700 (GRCm39) |
N1535K |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,631,597 (GRCm39) |
N464I |
probably damaging |
Het |
Pcsk5 |
C |
T |
19: 17,416,406 (GRCm39) |
V1681I |
probably benign |
Het |
Phf8-ps |
T |
C |
17: 33,285,104 (GRCm39) |
E566G |
probably damaging |
Het |
Pknox1 |
T |
A |
17: 31,822,339 (GRCm39) |
|
probably benign |
Het |
Ppa2 |
T |
C |
3: 133,083,623 (GRCm39) |
F327S |
probably damaging |
Het |
Rab39b |
G |
T |
X: 74,618,309 (GRCm39) |
L174M |
probably damaging |
Het |
Reep5 |
A |
T |
18: 34,505,526 (GRCm39) |
Y48* |
probably null |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sar1a |
T |
A |
10: 61,520,673 (GRCm39) |
|
probably benign |
Het |
Satb1 |
T |
A |
17: 52,047,095 (GRCm39) |
D740V |
probably damaging |
Het |
Sema3f |
G |
A |
9: 107,569,440 (GRCm39) |
T128I |
probably damaging |
Het |
Snx1 |
A |
T |
9: 66,005,731 (GRCm39) |
S129R |
probably damaging |
Het |
Sptb |
T |
A |
12: 76,652,313 (GRCm39) |
K1641N |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,095,979 (GRCm39) |
E305G |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Taar7d |
A |
T |
10: 23,904,152 (GRCm39) |
I345F |
probably benign |
Het |
Tes |
T |
C |
6: 17,099,779 (GRCm39) |
L258P |
probably damaging |
Het |
Trav9-4 |
A |
T |
14: 53,913,817 (GRCm39) |
T24S |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,657,739 (GRCm39) |
|
probably benign |
Het |
Vcam1 |
T |
A |
3: 115,919,646 (GRCm39) |
T207S |
probably benign |
Het |
Xkrx |
T |
C |
X: 133,051,311 (GRCm39) |
S447G |
probably benign |
Het |
Zfp318 |
T |
C |
17: 46,707,644 (GRCm39) |
L234P |
probably damaging |
Het |
|
Other mutations in Card14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01916:Card14
|
APN |
11 |
119,233,971 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02632:Card14
|
APN |
11 |
119,229,730 (GRCm39) |
missense |
probably benign |
0.02 |
R0183:Card14
|
UTSW |
11 |
119,217,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R0614:Card14
|
UTSW |
11 |
119,213,653 (GRCm39) |
missense |
probably benign |
|
R0766:Card14
|
UTSW |
11 |
119,215,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R1033:Card14
|
UTSW |
11 |
119,229,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R1705:Card14
|
UTSW |
11 |
119,229,232 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1907:Card14
|
UTSW |
11 |
119,222,085 (GRCm39) |
missense |
probably benign |
0.00 |
R1992:Card14
|
UTSW |
11 |
119,212,647 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3729:Card14
|
UTSW |
11 |
119,224,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R4472:Card14
|
UTSW |
11 |
119,224,784 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4578:Card14
|
UTSW |
11 |
119,217,567 (GRCm39) |
missense |
probably benign |
0.20 |
R4763:Card14
|
UTSW |
11 |
119,234,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R5117:Card14
|
UTSW |
11 |
119,229,076 (GRCm39) |
missense |
probably damaging |
0.99 |
R5386:Card14
|
UTSW |
11 |
119,208,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Card14
|
UTSW |
11 |
119,230,428 (GRCm39) |
nonsense |
probably null |
|
R6622:Card14
|
UTSW |
11 |
119,224,814 (GRCm39) |
missense |
probably benign |
0.06 |
R6998:Card14
|
UTSW |
11 |
119,213,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R7269:Card14
|
UTSW |
11 |
119,228,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R7304:Card14
|
UTSW |
11 |
119,228,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R7310:Card14
|
UTSW |
11 |
119,217,005 (GRCm39) |
missense |
probably null |
1.00 |
R7612:Card14
|
UTSW |
11 |
119,224,405 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7689:Card14
|
UTSW |
11 |
119,216,328 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8181:Card14
|
UTSW |
11 |
119,212,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R8188:Card14
|
UTSW |
11 |
119,228,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R8493:Card14
|
UTSW |
11 |
119,224,435 (GRCm39) |
critical splice donor site |
probably null |
|
R8499:Card14
|
UTSW |
11 |
119,222,070 (GRCm39) |
missense |
probably benign |
0.10 |
R8924:Card14
|
UTSW |
11 |
119,216,930 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9133:Card14
|
UTSW |
11 |
119,231,835 (GRCm39) |
missense |
probably damaging |
0.98 |
R9253:Card14
|
UTSW |
11 |
119,212,759 (GRCm39) |
missense |
probably benign |
|
R9464:Card14
|
UTSW |
11 |
119,208,031 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Card14
|
UTSW |
11 |
119,231,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2014-05-07 |