Incidental Mutation 'IGL01161:Ceacam3'
ID |
53646 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ceacam3
|
Ensembl Gene |
ENSMUSG00000053228 |
Gene Name |
CEA cell adhesion molecule 3 |
Synonyms |
EG384557, cea12, Psg24 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01161
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
16884207-16898178 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 16885782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 128
(N128K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108491]
|
AlphaFold |
E9Q6J4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108491
AA Change: N128K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000104131 Gene: ENSMUSG00000053228 AA Change: N128K
Domain | Start | End | E-Value | Type |
IG
|
40 |
141 |
2.83e-3 |
SMART |
IG
|
160 |
261 |
6.31e-1 |
SMART |
IG
|
280 |
379 |
8.01e-3 |
SMART |
IG
|
398 |
497 |
2.08e-1 |
SMART |
IG
|
514 |
613 |
1.26e0 |
SMART |
IGc2
|
631 |
695 |
7.64e-9 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
A |
2: 103,535,463 (GRCm39) |
D543E |
probably benign |
Het |
Acad9 |
A |
C |
3: 36,144,274 (GRCm39) |
N583T |
possibly damaging |
Het |
Arhgap5 |
G |
A |
12: 52,563,643 (GRCm39) |
V205M |
probably damaging |
Het |
Arid1b |
G |
A |
17: 5,392,674 (GRCm39) |
R2068Q |
probably damaging |
Het |
Bex3 |
T |
C |
X: 135,172,218 (GRCm39) |
F60S |
probably damaging |
Het |
Casd1 |
C |
T |
6: 4,619,833 (GRCm39) |
P193S |
possibly damaging |
Het |
Ceacam11 |
A |
T |
7: 17,712,435 (GRCm39) |
I295F |
possibly damaging |
Het |
Cyp1a2 |
C |
T |
9: 57,587,176 (GRCm39) |
E372K |
probably damaging |
Het |
Ddb1 |
T |
G |
19: 10,583,071 (GRCm39) |
M1R |
probably null |
Het |
Ecel1 |
T |
C |
1: 87,080,915 (GRCm39) |
D329G |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,175,017 (GRCm39) |
N1899D |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,722,983 (GRCm39) |
|
probably null |
Het |
Gm20507 |
A |
T |
17: 33,863,727 (GRCm39) |
|
probably benign |
Het |
Gml |
T |
G |
15: 74,685,688 (GRCm39) |
Y99S |
probably damaging |
Het |
Gpr119 |
G |
T |
X: 47,762,125 (GRCm39) |
|
probably benign |
Het |
Hcn1 |
T |
C |
13: 117,793,458 (GRCm39) |
Y237H |
unknown |
Het |
Hook2 |
G |
A |
8: 85,721,560 (GRCm39) |
V273I |
probably benign |
Het |
Il12rb2 |
T |
C |
6: 67,338,849 (GRCm39) |
|
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,369,279 (GRCm39) |
F1112S |
probably benign |
Het |
Lpl |
A |
T |
8: 69,345,277 (GRCm39) |
K94* |
probably null |
Het |
Lrrc8a |
T |
A |
2: 30,145,822 (GRCm39) |
L212Q |
probably damaging |
Het |
Me2 |
A |
T |
18: 73,903,887 (GRCm39) |
|
probably benign |
Het |
Mmp11 |
A |
T |
10: 75,762,655 (GRCm39) |
M266K |
probably benign |
Het |
Mprip |
T |
A |
11: 59,622,399 (GRCm39) |
V162E |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,752,711 (GRCm39) |
|
probably benign |
Het |
Or56b2 |
T |
C |
7: 104,337,588 (GRCm39) |
V122A |
probably benign |
Het |
Pcif1 |
T |
A |
2: 164,727,708 (GRCm39) |
L167H |
probably damaging |
Het |
Reps1 |
T |
C |
10: 17,969,643 (GRCm39) |
S249P |
probably damaging |
Het |
Sdf4 |
T |
A |
4: 156,093,763 (GRCm39) |
M299K |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,747,759 (GRCm39) |
V344A |
possibly damaging |
Het |
Svep1 |
G |
A |
4: 58,146,569 (GRCm39) |
P358S |
probably damaging |
Het |
Syt9 |
G |
T |
7: 107,024,356 (GRCm39) |
R83L |
probably damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,038,435 (GRCm39) |
I593V |
probably benign |
Het |
Trio |
T |
A |
15: 27,749,867 (GRCm39) |
N1134I |
probably damaging |
Het |
Trpv3 |
A |
G |
11: 73,187,544 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
T |
A |
11: 21,273,273 (GRCm39) |
I449L |
possibly damaging |
Het |
Usp24 |
C |
A |
4: 106,294,041 (GRCm39) |
H2595N |
probably benign |
Het |
Vat1l |
A |
G |
8: 115,096,629 (GRCm39) |
N370S |
possibly damaging |
Het |
Wwc1 |
C |
A |
11: 35,758,103 (GRCm39) |
D748Y |
probably damaging |
Het |
Zfyve9 |
G |
A |
4: 108,538,261 (GRCm39) |
H1002Y |
probably damaging |
Het |
|
Other mutations in Ceacam3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01510:Ceacam3
|
APN |
7 |
16,893,767 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01830:Ceacam3
|
APN |
7 |
16,888,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02155:Ceacam3
|
APN |
7 |
16,896,906 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02281:Ceacam3
|
APN |
7 |
16,895,656 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02301:Ceacam3
|
APN |
7 |
16,897,026 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02320:Ceacam3
|
APN |
7 |
16,895,865 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02514:Ceacam3
|
APN |
7 |
16,896,906 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02929:Ceacam3
|
APN |
7 |
16,892,115 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03143:Ceacam3
|
APN |
7 |
16,892,045 (GRCm39) |
nonsense |
probably null |
|
IGL03269:Ceacam3
|
APN |
7 |
16,895,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R0408:Ceacam3
|
UTSW |
7 |
16,885,808 (GRCm39) |
critical splice donor site |
probably benign |
|
R0591:Ceacam3
|
UTSW |
7 |
16,885,808 (GRCm39) |
critical splice donor site |
probably null |
|
R1274:Ceacam3
|
UTSW |
7 |
16,897,064 (GRCm39) |
missense |
probably damaging |
0.98 |
R1376:Ceacam3
|
UTSW |
7 |
16,897,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R1376:Ceacam3
|
UTSW |
7 |
16,897,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Ceacam3
|
UTSW |
7 |
16,897,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:Ceacam3
|
UTSW |
7 |
16,893,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R1769:Ceacam3
|
UTSW |
7 |
16,892,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R2345:Ceacam3
|
UTSW |
7 |
16,888,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2367:Ceacam3
|
UTSW |
7 |
16,885,813 (GRCm39) |
splice site |
probably null |
|
R2403:Ceacam3
|
UTSW |
7 |
16,895,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R4030:Ceacam3
|
UTSW |
7 |
16,892,267 (GRCm39) |
missense |
probably benign |
0.43 |
R4240:Ceacam3
|
UTSW |
7 |
16,893,949 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5305:Ceacam3
|
UTSW |
7 |
16,885,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R5314:Ceacam3
|
UTSW |
7 |
16,892,296 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5433:Ceacam3
|
UTSW |
7 |
16,893,808 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5538:Ceacam3
|
UTSW |
7 |
16,892,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R5638:Ceacam3
|
UTSW |
7 |
16,893,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R5787:Ceacam3
|
UTSW |
7 |
16,888,971 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5891:Ceacam3
|
UTSW |
7 |
16,885,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R5918:Ceacam3
|
UTSW |
7 |
16,893,670 (GRCm39) |
missense |
probably damaging |
0.99 |
R6074:Ceacam3
|
UTSW |
7 |
16,885,484 (GRCm39) |
missense |
probably benign |
0.05 |
R6386:Ceacam3
|
UTSW |
7 |
16,892,144 (GRCm39) |
missense |
probably benign |
0.22 |
R6439:Ceacam3
|
UTSW |
7 |
16,892,253 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6455:Ceacam3
|
UTSW |
7 |
16,895,863 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7150:Ceacam3
|
UTSW |
7 |
16,885,487 (GRCm39) |
missense |
|
|
R7196:Ceacam3
|
UTSW |
7 |
16,888,881 (GRCm39) |
missense |
|
|
R7201:Ceacam3
|
UTSW |
7 |
16,892,163 (GRCm39) |
nonsense |
probably null |
|
R7731:Ceacam3
|
UTSW |
7 |
16,892,275 (GRCm39) |
missense |
|
|
R7833:Ceacam3
|
UTSW |
7 |
16,893,778 (GRCm39) |
missense |
|
|
R8202:Ceacam3
|
UTSW |
7 |
16,896,953 (GRCm39) |
missense |
|
|
R8237:Ceacam3
|
UTSW |
7 |
16,897,082 (GRCm39) |
missense |
|
|
R8420:Ceacam3
|
UTSW |
7 |
16,895,608 (GRCm39) |
missense |
|
|
R8696:Ceacam3
|
UTSW |
7 |
16,893,937 (GRCm39) |
missense |
|
|
R9381:Ceacam3
|
UTSW |
7 |
16,893,715 (GRCm39) |
missense |
|
|
R9616:Ceacam3
|
UTSW |
7 |
16,892,078 (GRCm39) |
missense |
|
|
R9633:Ceacam3
|
UTSW |
7 |
16,895,688 (GRCm39) |
missense |
|
|
R9686:Ceacam3
|
UTSW |
7 |
16,892,123 (GRCm39) |
missense |
|
|
R9727:Ceacam3
|
UTSW |
7 |
16,892,262 (GRCm39) |
missense |
|
|
|
Posted On |
2013-06-28 |