Incidental Mutation 'IGL02301:Ceacam3'
| ID |
290282 |
| 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 # |
IGL02301
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16884207-16898178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 16897026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 664
(S664F)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108491]
|
| AlphaFold |
E9Q6J4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065540
AA Change: S664F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069892
Gene: ENSMUSG00000053228
AA Change: S664F
| 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 damaging
Transcript: ENSMUST00000108491
AA Change: S664F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: S664F
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
A |
G |
17: 32,551,900 (GRCm39) |
|
probably benign |
Het |
| Alk |
T |
C |
17: 72,181,171 (GRCm39) |
Q1373R |
probably damaging |
Het |
| Atf7ip2 |
T |
G |
16: 10,028,911 (GRCm39) |
S148A |
probably benign |
Het |
| Bpi |
C |
T |
2: 158,116,734 (GRCm39) |
S377F |
probably damaging |
Het |
| Ccni |
A |
T |
5: 93,336,034 (GRCm39) |
C122S |
possibly damaging |
Het |
| Cd5l |
A |
G |
3: 87,273,300 (GRCm39) |
R90G |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,512,133 (GRCm39) |
D534E |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,822,826 (GRCm39) |
S2524R |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gart |
A |
G |
16: 91,418,725 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
A |
G |
15: 63,767,113 (GRCm39) |
V219A |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,946,915 (GRCm39) |
T261A |
probably benign |
Het |
| Lman2l |
A |
G |
1: 36,482,624 (GRCm39) |
I84T |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,037,325 (GRCm39) |
V742M |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,567,679 (GRCm39) |
V267A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,048,870 (GRCm39) |
T1803A |
probably benign |
Het |
| Or1e17 |
T |
A |
11: 73,831,894 (GRCm39) |
M274K |
possibly damaging |
Het |
| Or4f54 |
T |
A |
2: 111,123,042 (GRCm39) |
M143K |
probably benign |
Het |
| Or6c70 |
A |
G |
10: 129,709,948 (GRCm39) |
F226S |
probably damaging |
Het |
| Pate11 |
T |
C |
9: 36,388,483 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,554,534 (GRCm39) |
R208Q |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,282,780 (GRCm39) |
N745S |
probably benign |
Het |
| Ptgdr2 |
T |
A |
19: 10,917,573 (GRCm39) |
I30N |
possibly damaging |
Het |
| Rap1gap2 |
G |
A |
11: 74,298,195 (GRCm39) |
T415I |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,703,037 (GRCm39) |
Y137H |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,092,129 (GRCm39) |
D532E |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,042,306 (GRCm39) |
D543G |
probably damaging |
Het |
| Trpc4 |
G |
A |
3: 54,198,653 (GRCm39) |
V526M |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,714,727 (GRCm39) |
I100V |
probably benign |
Het |
| Vmn1r-ps123 |
A |
C |
13: 23,180,527 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa5b2 |
G |
A |
16: 20,423,540 (GRCm39) |
G1151D |
probably damaging |
Het |
| Zfp358 |
T |
A |
8: 3,546,858 (GRCm39) |
I480N |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,508,202 (GRCm39) |
D714G |
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 |
|
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 |
2015-04-16 |
Incidental Mutation