Incidental Mutation 'IGL02514:Ceacam3'
| ID |
296667 |
| 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 # |
IGL02514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16884207-16898178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16896906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 624
(D624G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108491]
|
| AlphaFold |
E9Q6J4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065540
AA Change: D624G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000069892
Gene: ENSMUSG00000053228
AA Change: D624G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
IG
|
35 |
136 |
2.83e-3 |
SMART |
|
IG
|
155 |
256 |
6.31e-1 |
SMART |
|
IG
|
275 |
376 |
1.42e-3 |
SMART |
|
IG
|
395 |
494 |
2.08e-1 |
SMART |
|
IG
|
511 |
610 |
1.26e0 |
SMART |
|
IGc2
|
628 |
692 |
7.64e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108491
AA Change: D624G
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: D624G
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
T |
1: 138,779,909 (GRCm39) |
C114* |
probably null |
Het |
| 4933421I07Rik |
A |
G |
7: 42,096,981 (GRCm39) |
M110T |
probably damaging |
Het |
| Amer1 |
A |
G |
X: 94,470,117 (GRCm39) |
V667A |
possibly damaging |
Het |
| Casr |
C |
T |
16: 36,320,687 (GRCm39) |
G487E |
probably damaging |
Het |
| Catsperd |
G |
A |
17: 56,968,271 (GRCm39) |
G552D |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,826 (GRCm39) |
V2208A |
probably benign |
Het |
| Cibar1 |
T |
G |
4: 12,164,080 (GRCm39) |
|
probably benign |
Het |
| Clca4a |
G |
A |
3: 144,660,832 (GRCm39) |
S664F |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,556,199 (GRCm39) |
S40T |
unknown |
Het |
| Dhodh |
G |
A |
8: 110,332,896 (GRCm39) |
R58* |
probably null |
Het |
| Dhx36 |
A |
G |
3: 62,408,319 (GRCm39) |
L173S |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,159,872 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,565,470 (GRCm39) |
D2546G |
probably damaging |
Het |
| Eef2 |
T |
G |
10: 81,015,427 (GRCm39) |
I316S |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,917,143 (GRCm39) |
D139G |
possibly damaging |
Het |
| Efcab6 |
A |
T |
15: 83,755,512 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,505 (GRCm39) |
I357N |
possibly damaging |
Het |
| Elovl2 |
G |
A |
13: 41,348,247 (GRCm39) |
T44M |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,128,463 (GRCm39) |
C553* |
probably null |
Het |
| Fip1l1 |
T |
C |
5: 74,731,813 (GRCm39) |
V310A |
probably damaging |
Het |
| Gast |
A |
G |
11: 100,227,718 (GRCm39) |
D100G |
probably benign |
Het |
| Gk |
G |
A |
X: 84,756,970 (GRCm39) |
|
probably benign |
Het |
| Gm1330 |
G |
A |
2: 148,841,305 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,296,887 (GRCm39) |
T4355K |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,035 (GRCm39) |
V639A |
possibly damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,865,929 (GRCm39) |
M1271V |
probably damaging |
Het |
| Msantd1 |
T |
A |
5: 35,078,887 (GRCm39) |
S141T |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,743,650 (GRCm39) |
I237T |
probably damaging |
Het |
| Or10ag59 |
G |
A |
2: 87,405,537 (GRCm39) |
M36I |
probably benign |
Het |
| Or13a21 |
A |
T |
7: 139,999,507 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,469 (GRCm39) |
F28S |
probably damaging |
Het |
| Or4k40 |
A |
C |
2: 111,251,117 (GRCm39) |
Y60D |
probably damaging |
Het |
| Pan2 |
A |
T |
10: 128,146,610 (GRCm39) |
M416L |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,054,922 (GRCm39) |
F209L |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,044 (GRCm39) |
I141L |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,223,236 (GRCm39) |
Y422H |
probably benign |
Het |
| Pramel14 |
T |
C |
4: 143,719,772 (GRCm39) |
K198E |
probably benign |
Het |
| Prdm4 |
A |
T |
10: 85,743,781 (GRCm39) |
I158N |
probably damaging |
Het |
| Prl |
T |
G |
13: 27,243,377 (GRCm39) |
L14R |
probably damaging |
Het |
| Rabl6 |
C |
A |
2: 25,498,188 (GRCm39) |
A23S |
probably damaging |
Het |
| Rbm15b |
T |
A |
9: 106,762,176 (GRCm39) |
H664L |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,125,471 (GRCm39) |
H618Q |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,724,452 (GRCm39) |
K140R |
probably damaging |
Het |
| Slc6a17 |
A |
G |
3: 107,402,993 (GRCm39) |
S145P |
possibly damaging |
Het |
| Snx31 |
T |
C |
15: 36,525,728 (GRCm39) |
T324A |
probably damaging |
Het |
| Spatc1l |
T |
C |
10: 76,405,490 (GRCm39) |
|
probably benign |
Het |
| Taar7b |
A |
G |
10: 23,876,882 (GRCm39) |
N349S |
probably benign |
Het |
| Tbx19 |
T |
C |
1: 164,981,273 (GRCm39) |
I74V |
probably benign |
Het |
| Tmtc2 |
G |
A |
10: 105,025,960 (GRCm39) |
T836I |
possibly damaging |
Het |
| Vmn2r72 |
C |
A |
7: 85,387,907 (GRCm39) |
M552I |
possibly damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,338 (GRCm39) |
T199A |
probably benign |
Het |
| Washc4 |
A |
T |
10: 83,405,947 (GRCm39) |
E481V |
probably damaging |
Het |
| Zc3h15 |
T |
A |
2: 83,483,725 (GRCm39) |
N33K |
probably damaging |
Het |
|
| Other mutations in Ceacam3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01161:Ceacam3
|
APN |
7 |
16,885,782 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation