Incidental Mutation 'IGL02320:Ceacam3'
| ID |
288208 |
| 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 # |
IGL02320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16884207-16898178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16895865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 612
(Y612N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108491]
|
| AlphaFold |
E9Q6J4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065540
AA Change: Y612N
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000069892
Gene: ENSMUSG00000053228
AA Change: Y612N
| 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: Y612N
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: Y612N
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,445,961 (GRCm39) |
S146P |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,210,620 (GRCm39) |
Y336* |
probably null |
Het |
| Arap1 |
T |
C |
7: 101,034,236 (GRCm39) |
L226P |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,614,753 (GRCm39) |
N1150Y |
probably damaging |
Het |
| Ccsap |
G |
T |
8: 124,569,177 (GRCm39) |
H221Q |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,523,303 (GRCm39) |
|
probably null |
Het |
| Ddx23 |
T |
C |
15: 98,548,819 (GRCm39) |
T328A |
possibly damaging |
Het |
| Depdc1a |
T |
A |
3: 159,222,570 (GRCm39) |
M252K |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,608 (GRCm39) |
R201S |
probably benign |
Het |
| Ighv1-20 |
A |
G |
12: 114,687,463 (GRCm39) |
S94P |
probably damaging |
Het |
| Itgb7 |
A |
C |
15: 102,132,772 (GRCm39) |
V180G |
probably benign |
Het |
| Mmp13 |
G |
T |
9: 7,278,941 (GRCm39) |
R344L |
probably benign |
Het |
| Mucl3 |
A |
T |
17: 35,948,332 (GRCm39) |
N422K |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,231,725 (GRCm39) |
S63L |
probably damaging |
Het |
| Or5p52 |
C |
T |
7: 107,502,038 (GRCm39) |
T38I |
possibly damaging |
Het |
| Pde9a |
G |
A |
17: 31,678,059 (GRCm39) |
C187Y |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,068,341 (GRCm39) |
L490P |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,974,681 (GRCm39) |
T1193A |
probably damaging |
Het |
| Shisa2 |
T |
A |
14: 59,867,246 (GRCm39) |
M166K |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,744,088 (GRCm39) |
S40T |
possibly damaging |
Het |
| Spef2 |
A |
C |
15: 9,717,662 (GRCm39) |
S285A |
probably damaging |
Het |
| Tlcd3a |
A |
G |
11: 76,096,231 (GRCm39) |
M120V |
probably damaging |
Het |
| Trgv7 |
C |
A |
13: 19,362,249 (GRCm39) |
P13Q |
unknown |
Het |
| Ttn |
A |
G |
2: 76,769,656 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
A |
G |
1: 57,435,884 (GRCm39) |
|
probably null |
Het |
| Vars2 |
A |
G |
17: 35,971,346 (GRCm39) |
V212A |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,180 (GRCm39) |
S40P |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,316,882 (GRCm39) |
|
probably null |
Het |
| Zbed6 |
T |
C |
1: 133,585,411 (GRCm39) |
N642S |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,230 (GRCm39) |
C580S |
probably damaging |
Het |
| Zfp64 |
A |
G |
2: 168,768,118 (GRCm39) |
V498A |
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 |
|
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 |
2015-04-16 |
Incidental Mutation