Incidental Mutation 'IGL00791:Ceacam13'
| ID |
9580 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ceacam13
|
| Ensembl Gene |
ENSMUSG00000057195 |
| Gene Name |
CEA cell adhesion molecule 13 |
| Synonyms |
Ceacam13-C2, Ceacam13-C1, 1600025J19Rik, 1600012K03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL00791
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
17743814-17753145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17747278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 244
(T244A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081703]
[ENSMUST00000108488]
|
| AlphaFold |
Q9DAT7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081703
AA Change: T244A
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000080404
Gene: ENSMUSG00000057195
AA Change: T244A
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
40 |
143 |
1.37e1 |
SMART |
|
IG_like
|
158 |
261 |
8.97e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108488
AA Change: T244A
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104128
Gene: ENSMUSG00000057195
AA Change: T244A
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
40 |
143 |
1.37e1 |
SMART |
|
IG_like
|
158 |
261 |
8.97e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175466
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
A |
T |
12: 21,289,649 (GRCm39) |
M519L |
possibly damaging |
Het |
| Bbs7 |
T |
C |
3: 36,629,436 (GRCm39) |
*674W |
probably null |
Het |
| Cln8 |
T |
A |
8: 14,944,689 (GRCm39) |
M1K |
probably null |
Het |
| Cnot9 |
T |
C |
1: 74,561,533 (GRCm39) |
V126A |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,125,731 (GRCm39) |
T134A |
possibly damaging |
Het |
| Fastkd5 |
C |
A |
2: 130,458,297 (GRCm39) |
A98S |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,676,284 (GRCm39) |
I53N |
possibly damaging |
Het |
| Hexd |
A |
G |
11: 121,111,986 (GRCm39) |
S427G |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,664,044 (GRCm39) |
L1927R |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,155,085 (GRCm39) |
E267G |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,057,137 (GRCm39) |
S4132P |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,412,434 (GRCm39) |
L780P |
probably damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,335,867 (GRCm39) |
V195E |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,461,374 (GRCm39) |
Y1474H |
possibly damaging |
Het |
| Taf15 |
A |
G |
11: 83,379,749 (GRCm39) |
|
probably null |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,737 (GRCm39) |
S194P |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,109,481 (GRCm39) |
S332G |
probably benign |
Het |
| Tmpo |
A |
T |
10: 90,998,420 (GRCm39) |
S456T |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,581,411 (GRCm39) |
L608P |
probably damaging |
Het |
| Zfp39 |
T |
A |
11: 58,783,885 (GRCm39) |
|
probably benign |
Het |
| Zfp935 |
A |
C |
13: 62,602,278 (GRCm39) |
N307K |
probably benign |
Het |
|
| Other mutations in Ceacam13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01617:Ceacam13
|
APN |
7 |
17,745,308 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02948:Ceacam13
|
APN |
7 |
17,744,988 (GRCm39) |
splice site |
probably benign |
|
|
R1508:Ceacam13
|
UTSW |
7 |
17,744,996 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3794:Ceacam13
|
UTSW |
7 |
17,747,340 (GRCm39) |
makesense |
probably null |
|
|
R4882:Ceacam13
|
UTSW |
7 |
17,746,997 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6859:Ceacam13
|
UTSW |
7 |
17,747,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Ceacam13
|
UTSW |
7 |
17,747,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Ceacam13
|
UTSW |
7 |
17,743,934 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8745:Ceacam13
|
UTSW |
7 |
17,743,934 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9471:Ceacam13
|
UTSW |
7 |
17,753,012 (GRCm39) |
makesense |
probably null |
|
|
R9473:Ceacam13
|
UTSW |
7 |
17,747,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation