Incidental Mutation 'IGL01916:Card14'
| ID |
179962 |
| 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 # |
IGL01916
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119198594-119236201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119233971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 854
(Y854H)
|
| 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 benign
Transcript: ENSMUST00000053245
AA Change: Y854H
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000053665
Gene: ENSMUSG00000013483
AA Change: Y854H
| 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 benign
Transcript: ENSMUST00000106250
AA Change: Y854H
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000101857
Gene: ENSMUSG00000013483
AA Change: Y854H
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141540
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,684,937 (GRCm39) |
T187A |
probably damaging |
Het |
| A430005L14Rik |
C |
A |
4: 154,045,997 (GRCm39) |
F214L |
possibly damaging |
Het |
| A830018L16Rik |
C |
A |
1: 11,818,331 (GRCm39) |
|
probably benign |
Het |
| Adgrd1 |
T |
C |
5: 129,209,902 (GRCm39) |
S342P |
probably benign |
Het |
| Aldh4a1 |
A |
G |
4: 139,371,457 (GRCm39) |
Y457C |
probably damaging |
Het |
| Ankrd7 |
A |
T |
6: 18,868,250 (GRCm39) |
E124V |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,003,665 (GRCm39) |
|
probably null |
Het |
| Ccdc85c |
T |
C |
12: 108,174,103 (GRCm39) |
H355R |
probably damaging |
Het |
| Ccr3 |
T |
A |
9: 123,829,589 (GRCm39) |
V308D |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,567,476 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
C |
A |
8: 110,948,580 (GRCm39) |
Q297K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,573,322 (GRCm39) |
L150R |
unknown |
Het |
| Cwf19l2 |
T |
C |
9: 3,477,869 (GRCm39) |
I858T |
possibly damaging |
Het |
| Cyp39a1 |
C |
T |
17: 44,041,941 (GRCm39) |
P383S |
probably damaging |
Het |
| Ddi2 |
C |
T |
4: 141,422,709 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
G |
11: 118,016,114 (GRCm39) |
I342L |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,048,973 (GRCm39) |
I462T |
probably damaging |
Het |
| Ephx4 |
A |
T |
5: 107,553,896 (GRCm39) |
|
probably null |
Het |
| Fam193b |
A |
G |
13: 55,698,031 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,157,366 (GRCm39) |
N2306D |
possibly damaging |
Het |
| Folr1 |
A |
T |
7: 101,507,947 (GRCm39) |
H164Q |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,734 (GRCm39) |
V163A |
probably benign |
Het |
| Gal3st4 |
G |
A |
5: 138,269,197 (GRCm39) |
R83C |
probably damaging |
Het |
| Galnt16 |
T |
C |
12: 80,639,264 (GRCm39) |
|
probably null |
Het |
| Gata5 |
G |
A |
2: 179,968,734 (GRCm39) |
S380F |
possibly damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm4787 |
A |
T |
12: 81,424,218 (GRCm39) |
L647M |
probably benign |
Het |
| Gvin3 |
T |
G |
7: 106,201,033 (GRCm39) |
H737P |
probably benign |
Het |
| Hcfc2 |
A |
G |
10: 82,570,217 (GRCm39) |
K523E |
possibly damaging |
Het |
| Ift70a1 |
C |
A |
2: 75,811,223 (GRCm39) |
V287L |
probably damaging |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,458 (GRCm39) |
Y114* |
probably null |
Het |
| Il10ra |
A |
T |
9: 45,167,444 (GRCm39) |
L369Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,616,606 (GRCm39) |
K51R |
possibly damaging |
Het |
| Kif26a |
C |
T |
12: 112,143,328 (GRCm39) |
P1194L |
possibly damaging |
Het |
| Kntc1 |
T |
G |
5: 123,939,976 (GRCm39) |
L1590R |
probably damaging |
Het |
| Lipo3 |
G |
T |
19: 33,762,182 (GRCm39) |
A105E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,335,423 (GRCm39) |
S4382C |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,369,830 (GRCm39) |
E79K |
probably damaging |
Het |
| Nmnat2 |
T |
C |
1: 152,969,792 (GRCm39) |
I195T |
probably damaging |
Het |
| Or11g25 |
A |
G |
14: 50,722,950 (GRCm39) |
T12A |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,576,914 (GRCm39) |
T431A |
possibly damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,634,045 (GRCm39) |
G101D |
probably benign |
Het |
| Phip |
T |
C |
9: 82,772,522 (GRCm39) |
D1070G |
possibly damaging |
Het |
| Ren1 |
A |
G |
1: 133,286,150 (GRCm39) |
H231R |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,675,500 (GRCm39) |
Q230K |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,498,497 (GRCm39) |
Y154N |
probably damaging |
Het |
| Thnsl1 |
A |
T |
2: 21,217,476 (GRCm39) |
N410I |
possibly damaging |
Het |
| Tnfrsf21 |
A |
T |
17: 43,350,694 (GRCm39) |
E286V |
probably benign |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,246 (GRCm39) |
R60G |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wrn |
T |
A |
8: 33,747,252 (GRCm39) |
I1110F |
possibly damaging |
Het |
| Zfp777 |
G |
T |
6: 48,002,276 (GRCm39) |
R649S |
probably damaging |
Het |
| Zmym6 |
T |
A |
4: 127,017,549 (GRCm39) |
I1110N |
probably damaging |
Het |
|
| Other mutations in Card14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02070:Card14
|
APN |
11 |
119,235,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation