Incidental Mutation 'IGL00577:Ceacam12'
| ID |
5321 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ceacam12
|
| Ensembl Gene |
ENSMUSG00000030366 |
| Gene Name |
CEA cell adhesion molecule 12 |
| Synonyms |
Ceacam12-C1, Ceacam12-C3, 1600031J20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00577
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
17799854-17811911 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17801186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 55
(V55E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032520]
[ENSMUST00000108483]
[ENSMUST00000108487]
|
| AlphaFold |
Q3UKP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032520
AA Change: V55E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032520
Gene: ENSMUSG00000030366
AA Change: V55E
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
7.77e-1 |
SMART |
|
IG_like
|
159 |
260 |
4.78e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108483
AA Change: V55E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104123
Gene: ENSMUSG00000030366
AA Change: V55E
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
7.77e-1 |
SMART |
|
IG_like
|
159 |
260 |
4.78e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108487
AA Change: V55E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104127
Gene: ENSMUSG00000030366
AA Change: V55E
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
7.77e-1 |
SMART |
|
IG_like
|
159 |
260 |
4.78e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
T |
A |
14: 44,239,458 (GRCm39) |
Y90F |
probably benign |
Het |
| Arhgef6 |
T |
A |
X: 56,290,992 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
G |
11: 29,374,772 (GRCm39) |
E115G |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,375 (GRCm39) |
R376* |
probably null |
Het |
| Dop1a |
A |
T |
9: 86,402,999 (GRCm39) |
I1398F |
probably damaging |
Het |
| Eif2s1 |
T |
G |
12: 78,913,420 (GRCm39) |
N40K |
possibly damaging |
Het |
| Epb41 |
T |
A |
4: 131,702,042 (GRCm39) |
H531L |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,696,049 (GRCm39) |
W523R |
probably damaging |
Het |
| Gpatch8 |
T |
C |
11: 102,369,704 (GRCm39) |
D1278G |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,372,246 (GRCm39) |
A795T |
probably damaging |
Het |
| Nrdc |
T |
C |
4: 108,903,884 (GRCm39) |
|
probably benign |
Het |
| Os9 |
C |
T |
10: 126,933,845 (GRCm39) |
R524K |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,515,822 (GRCm39) |
|
probably benign |
Het |
| Prnp |
A |
G |
2: 131,779,031 (GRCm39) |
R228G |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
| Prss1 |
T |
C |
6: 41,439,645 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,245,888 (GRCm39) |
D678G |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,486,624 (GRCm39) |
V430L |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,256,565 (GRCm39) |
S395P |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,177,599 (GRCm39) |
I55T |
probably damaging |
Het |
| Tmc3 |
A |
C |
7: 83,252,682 (GRCm39) |
E361A |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,272,312 (GRCm39) |
S922T |
possibly damaging |
Het |
| Znhit1 |
A |
T |
5: 137,011,437 (GRCm39) |
Y125* |
probably null |
Het |
|
| Other mutations in Ceacam12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Ceacam12
|
APN |
7 |
17,801,446 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01505:Ceacam12
|
APN |
7 |
17,801,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01540:Ceacam12
|
APN |
7 |
17,805,727 (GRCm39) |
intron |
probably benign |
|
|
R0033:Ceacam12
|
UTSW |
7 |
17,803,385 (GRCm39) |
splice site |
probably benign |
|
|
R0033:Ceacam12
|
UTSW |
7 |
17,803,385 (GRCm39) |
splice site |
probably benign |
|
|
R1816:Ceacam12
|
UTSW |
7 |
17,805,690 (GRCm39) |
splice site |
probably null |
|
|
R4227:Ceacam12
|
UTSW |
7 |
17,805,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4382:Ceacam12
|
UTSW |
7 |
17,799,959 (GRCm39) |
start gained |
probably benign |
|
|
R4541:Ceacam12
|
UTSW |
7 |
17,805,648 (GRCm39) |
missense |
probably benign |
|
|
R4651:Ceacam12
|
UTSW |
7 |
17,801,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Ceacam12
|
UTSW |
7 |
17,801,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Ceacam12
|
UTSW |
7 |
17,811,305 (GRCm39) |
splice site |
probably null |
|
|
R5351:Ceacam12
|
UTSW |
7 |
17,801,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5357:Ceacam12
|
UTSW |
7 |
17,811,384 (GRCm39) |
nonsense |
probably null |
|
|
R5779:Ceacam12
|
UTSW |
7 |
17,803,079 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5893:Ceacam12
|
UTSW |
7 |
17,803,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Ceacam12
|
UTSW |
7 |
17,803,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Ceacam12
|
UTSW |
7 |
17,803,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6175:Ceacam12
|
UTSW |
7 |
17,801,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6346:Ceacam12
|
UTSW |
7 |
17,803,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6491:Ceacam12
|
UTSW |
7 |
17,803,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6591:Ceacam12
|
UTSW |
7 |
17,803,149 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6691:Ceacam12
|
UTSW |
7 |
17,803,149 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8822:Ceacam12
|
UTSW |
7 |
17,803,378 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9232:Ceacam12
|
UTSW |
7 |
17,803,341 (GRCm39) |
missense |
probably benign |
|
|
R9279:Ceacam12
|
UTSW |
7 |
17,801,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9372:Ceacam12
|
UTSW |
7 |
17,803,229 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1177:Ceacam12
|
UTSW |
7 |
17,801,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation