Incidental Mutation 'R6346:Ceacam12'
ID |
513950 |
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 |
044500-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6346 (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 17803326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 244
(I244K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032520]
[ENSMUST00000108483]
[ENSMUST00000108487]
|
AlphaFold |
Q3UKP4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032520
AA Change: I244K
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000032520 Gene: ENSMUSG00000030366 AA Change: I244K
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: I244K
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104123 Gene: ENSMUSG00000030366 AA Change: I244K
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: I244K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104127 Gene: ENSMUSG00000030366 AA Change: I244K
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
|
Meta Mutation Damage Score |
0.3360 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
C |
T |
7: 75,335,002 (GRCm39) |
S455L |
probably damaging |
Het |
Apbb1ip |
T |
G |
2: 22,757,005 (GRCm39) |
|
probably null |
Het |
Arhgap18 |
A |
T |
10: 26,722,061 (GRCm39) |
I11F |
probably damaging |
Het |
Arl14epl |
A |
T |
18: 47,059,409 (GRCm39) |
N8I |
possibly damaging |
Het |
Atp4a |
T |
A |
7: 30,414,781 (GRCm39) |
I190N |
possibly damaging |
Het |
Bfar |
T |
C |
16: 13,519,997 (GRCm39) |
F285S |
probably damaging |
Het |
Carf |
C |
T |
1: 60,180,699 (GRCm39) |
Q409* |
probably null |
Het |
Cd244a |
T |
C |
1: 171,404,889 (GRCm39) |
V247A |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,228,698 (GRCm39) |
E2130G |
probably damaging |
Het |
Cyp2b23 |
T |
G |
7: 26,381,150 (GRCm39) |
H69P |
probably damaging |
Het |
Dixdc1 |
T |
C |
9: 50,595,253 (GRCm39) |
Q183R |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,553,573 (GRCm39) |
|
probably null |
Het |
Fam20c |
T |
C |
5: 138,752,450 (GRCm39) |
F279S |
probably damaging |
Het |
Hcn4 |
C |
T |
9: 58,766,327 (GRCm39) |
T665I |
unknown |
Het |
Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
Kdm7a |
A |
T |
6: 39,128,145 (GRCm39) |
|
probably null |
Het |
Ksr1 |
A |
C |
11: 78,910,490 (GRCm39) |
L814R |
possibly damaging |
Het |
Lmnb1 |
A |
G |
18: 56,876,310 (GRCm39) |
I473V |
probably benign |
Het |
Mllt3 |
T |
C |
4: 87,759,445 (GRCm39) |
K201R |
probably damaging |
Het |
Myo1b |
C |
T |
1: 51,823,666 (GRCm39) |
C413Y |
probably damaging |
Het |
Myom3 |
A |
T |
4: 135,533,362 (GRCm39) |
N1185I |
probably benign |
Het |
Nrde2 |
A |
G |
12: 100,098,565 (GRCm39) |
S701P |
probably benign |
Het |
Ntn4 |
A |
T |
10: 93,480,723 (GRCm39) |
D112V |
probably damaging |
Het |
Nup43 |
T |
A |
10: 7,550,826 (GRCm39) |
V232D |
probably damaging |
Het |
Pcdha6 |
G |
A |
18: 37,101,113 (GRCm39) |
C102Y |
probably damaging |
Het |
Pcdhgb8 |
T |
C |
18: 37,895,131 (GRCm39) |
L67P |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,358,016 (GRCm39) |
H836R |
probably damaging |
Het |
Plekha1 |
T |
A |
7: 130,479,512 (GRCm39) |
I10N |
probably benign |
Het |
Prss29 |
A |
G |
17: 25,540,084 (GRCm39) |
T161A |
possibly damaging |
Het |
Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Secisbp2 |
C |
T |
13: 51,833,923 (GRCm39) |
H688Y |
probably damaging |
Het |
Senp5 |
A |
G |
16: 31,802,665 (GRCm39) |
Y508H |
probably damaging |
Het |
Shc3 |
T |
A |
13: 51,605,651 (GRCm39) |
T210S |
possibly damaging |
Het |
Slc27a2 |
G |
A |
2: 126,429,800 (GRCm39) |
V467M |
probably damaging |
Het |
Slc27a5 |
T |
A |
7: 12,724,899 (GRCm39) |
E487V |
possibly damaging |
Het |
Snx1 |
T |
C |
9: 66,001,930 (GRCm39) |
T298A |
possibly damaging |
Het |
Trir |
A |
G |
8: 85,753,643 (GRCm39) |
D39G |
possibly damaging |
Het |
Ubd |
C |
T |
17: 37,506,242 (GRCm39) |
Q43* |
probably null |
Het |
Ube2o |
T |
C |
11: 116,432,194 (GRCm39) |
E924G |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,659,578 (GRCm39) |
I1650V |
possibly damaging |
Het |
Xirp2 |
C |
A |
2: 67,346,425 (GRCm39) |
R2889S |
probably benign |
Het |
Zfp804b |
T |
C |
5: 6,820,534 (GRCm39) |
E843G |
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 |
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'- CTGGCACAAAGGGGTATTTCC -3'
(R):5'- TCCAGTCAGATCAAGGCTTCTG -3'
Sequencing Primer
(F):5'- CACAAAGGGGTATTTCCAGTTGACC -3'
(R):5'- AGATCAAGGCTTCTGATCTATTTCCG -3'
|
Posted On |
2018-04-27 |