Incidental Mutation 'IGL01483:Ceacam12'
| ID |
88680 |
| 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 # |
IGL01483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
17799854-17811911 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17801446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 142
(R142G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032520]
[ENSMUST00000108483]
[ENSMUST00000108487]
|
| AlphaFold |
Q3UKP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032520
AA Change: R142G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000032520
Gene: ENSMUSG00000030366
AA Change: R142G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
7.77e-1 |
SMART |
|
IG_like
|
159 |
260 |
4.78e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108483
AA Change: R142G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000104123
Gene: ENSMUSG00000030366
AA Change: R142G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
7.77e-1 |
SMART |
|
IG_like
|
159 |
260 |
4.78e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108487
AA Change: R142G
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104127
Gene: ENSMUSG00000030366
AA Change: R142G
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
G |
T |
16: 90,351,201 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
C |
5: 8,977,871 (GRCm39) |
I483T |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,710,639 (GRCm39) |
H388L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,008,243 (GRCm39) |
Y52H |
possibly damaging |
Het |
| Atf7ip |
A |
G |
6: 136,564,457 (GRCm39) |
N900S |
probably damaging |
Het |
| Bmp10 |
A |
T |
6: 87,410,933 (GRCm39) |
D242V |
probably damaging |
Het |
| Cilp2 |
T |
A |
8: 70,335,496 (GRCm39) |
I501F |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,216,591 (GRCm39) |
I603S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,819,476 (GRCm39) |
V426A |
probably damaging |
Het |
| Dyrk1b |
A |
G |
7: 27,882,101 (GRCm39) |
D94G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,173 (GRCm39) |
V968A |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Fbxo7 |
T |
C |
10: 85,880,445 (GRCm39) |
Y298H |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,310,827 (GRCm39) |
D25G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,947,043 (GRCm39) |
V90A |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,553 (GRCm39) |
E144D |
probably damaging |
Het |
| Lpo |
G |
A |
11: 87,711,964 (GRCm39) |
T31I |
probably benign |
Het |
| Mc5r |
A |
G |
18: 68,472,315 (GRCm39) |
I225V |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,044,009 (GRCm39) |
F245L |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,670 (GRCm39) |
D121G |
probably damaging |
Het |
| Nap1l4 |
A |
T |
7: 143,081,053 (GRCm39) |
|
probably null |
Het |
| Noc4l |
T |
A |
5: 110,796,824 (GRCm39) |
K486M |
probably damaging |
Het |
| Notum |
T |
C |
11: 120,547,482 (GRCm39) |
D271G |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,783 (GRCm39) |
L550Q |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,661,465 (GRCm39) |
S594P |
probably damaging |
Het |
| Pramel12 |
A |
T |
4: 143,144,047 (GRCm39) |
E131V |
probably damaging |
Het |
| Prr23a1 |
T |
G |
9: 98,725,369 (GRCm39) |
S244A |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,432,273 (GRCm38) |
|
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,055,832 (GRCm39) |
N23S |
probably benign |
Het |
| Smarcc1 |
G |
T |
9: 110,051,128 (GRCm39) |
G983* |
probably null |
Het |
| Tbc1d22a |
A |
T |
15: 86,275,404 (GRCm39) |
Q442L |
probably benign |
Het |
| Tuba1b |
A |
G |
15: 98,830,338 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,762,733 (GRCm39) |
M212I |
probably benign |
Het |
|
| Other mutations in Ceacam12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Ceacam12
|
APN |
7 |
17,801,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-18 |
Incidental Mutation