Incidental Mutation 'R6591:Ceacam12'
| ID |
524572 |
| 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 |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
17799854-17811911 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17803149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 185
(V185D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032520]
[ENSMUST00000108483]
[ENSMUST00000108487]
|
| AlphaFold |
Q3UKP4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032520
AA Change: V185D
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032520
Gene: ENSMUSG00000030366
AA Change: V185D
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
7.77e-1 |
SMART |
|
IG_like
|
159 |
260 |
4.78e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108483
AA Change: V185D
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104123
Gene: ENSMUSG00000030366
AA Change: V185D
| 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: V185D
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104127
Gene: ENSMUSG00000030366
AA Change: V185D
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
7.77e-1 |
SMART |
|
IG_like
|
159 |
260 |
4.78e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205637
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
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 |
|
|
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 |
|
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'- TGATGGACACAGCTGCTAAG -3'
(R):5'- GTAGGCTGTAAAGTCCTGTGTC -3'
Sequencing Primer
(F):5'- TGCTAAGAACACAGAGACCCTTCTTC -3'
(R):5'- CTTCCTGTGAGACCTTCGAGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation