Incidental Mutation 'R5351:Ceacam12'
| ID |
423800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam12
|
| Ensembl Gene |
ENSMUSG00000030366 |
| Gene Name |
CEA cell adhesion molecule 12 |
| Synonyms |
Ceacam12-C1, Ceacam12-C3, 1600031J20Rik |
| MMRRC Submission |
042930-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5351 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
17799854-17811911 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17801159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 46
(V46D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032520]
[ENSMUST00000108483]
[ENSMUST00000108487]
|
| AlphaFold |
Q3UKP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032520
AA Change: V46D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032520
Gene: ENSMUSG00000030366
AA Change: V46D
| 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: V46D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104123
Gene: ENSMUSG00000030366
AA Change: V46D
| 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: V46D
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104127
Gene: ENSMUSG00000030366
AA Change: V46D
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
7.77e-1 |
SMART |
|
IG_like
|
159 |
260 |
4.78e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
T |
A |
3: 127,522,941 (GRCm39) |
S34C |
probably damaging |
Het |
| Apol7e |
T |
G |
15: 77,602,511 (GRCm39) |
*370G |
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,245,162 (GRCm39) |
I290T |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,904,706 (GRCm39) |
Y345H |
probably damaging |
Het |
| Cirbp |
T |
C |
10: 80,006,136 (GRCm39) |
|
probably benign |
Het |
| Cnot8 |
T |
A |
11: 58,006,147 (GRCm39) |
H225Q |
probably damaging |
Het |
| Fstl1 |
T |
C |
16: 37,649,542 (GRCm39) |
V252A |
probably damaging |
Het |
| H2-T3 |
T |
C |
17: 36,500,965 (GRCm39) |
Q17R |
probably benign |
Het |
| Htt |
A |
G |
5: 34,961,177 (GRCm39) |
Y268C |
probably damaging |
Het |
| Ildr2 |
T |
C |
1: 166,136,478 (GRCm39) |
V439A |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,034,875 (GRCm39) |
M557T |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,837,132 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Mynn |
C |
T |
3: 30,661,691 (GRCm39) |
R258W |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,610,850 (GRCm39) |
N2180K |
probably damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,610 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,330,819 (GRCm39) |
G728D |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,217 (GRCm39) |
D882G |
probably damaging |
Het |
| Prkar2b |
C |
T |
12: 32,022,126 (GRCm39) |
G60R |
probably damaging |
Het |
| Prkdc |
G |
C |
16: 15,649,176 (GRCm39) |
V3717L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,201,697 (GRCm39) |
V250E |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,036 (GRCm39) |
L254P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,296,546 (GRCm39) |
*239W |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,385 (GRCm39) |
V2339A |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,645,672 (GRCm39) |
S1449R |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,223 (GRCm39) |
K850M |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 82,974,876 (GRCm39) |
E358G |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGAGGTAATTTTGCTCACCC -3'
(R):5'- GAGCATCGTCTCTCTACCAC -3'
Sequencing Primer
(F):5'- ACCCCTTTAAAGTACATTGGTGC -3'
(R):5'- ACTGTGTGCAGGTCCCATCAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation