Incidental Mutation 'IGL00480:Ceacam23'
| ID |
332442 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ceacam23
|
| Ensembl Gene |
ENSMUSG00000078793 |
| Gene Name |
CEA cell adhesion moleculen23 |
| Synonyms |
Gm5155 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
17605692-17652935 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17644622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 580
(S580T)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
A0A3Q4EGJ1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000072381
|
| SMART Domains |
Protein: ENSMUSP00000072218
Gene: ENSMUSG00000078793
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.27e-2 |
SMART |
|
IG_like
|
160 |
261 |
2.73e1 |
SMART |
|
IG_like
|
277 |
378 |
6.69e0 |
SMART |
|
IG_like
|
397 |
498 |
4.07e1 |
SMART |
|
IG_like
|
514 |
615 |
6.52e0 |
SMART |
|
IG_like
|
634 |
735 |
1.05e1 |
SMART |
|
IG
|
753 |
853 |
1.28e-1 |
SMART |
|
IGc2
|
869 |
933 |
3.82e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165490
AA Change: S580T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130117
Gene: ENSMUSG00000078793
AA Change: S580T
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.94e-1 |
SMART |
|
IG_like
|
160 |
261 |
2.73e1 |
SMART |
|
IG_like
|
277 |
378 |
6.69e0 |
SMART |
|
IG_like
|
397 |
498 |
4.07e1 |
SMART |
|
IG_like
|
514 |
615 |
6.52e0 |
SMART |
|
IG_like
|
634 |
735 |
1.05e1 |
SMART |
|
IG
|
753 |
853 |
1.28e-1 |
SMART |
|
IGc2
|
869 |
933 |
3.82e-9 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
T |
2: 58,205,867 (GRCm39) |
V31E |
probably damaging |
Het |
| Cdc6 |
T |
C |
11: 98,799,597 (GRCm39) |
V68A |
probably benign |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Gtf3c1 |
C |
T |
7: 125,243,430 (GRCm39) |
V1821I |
probably benign |
Het |
| Haus3 |
T |
C |
5: 34,325,272 (GRCm39) |
E129G |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,235,355 (GRCm39) |
|
probably benign |
Het |
| Pabpc1l |
G |
A |
2: 163,884,237 (GRCm39) |
V325M |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,477,928 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,158,195 (GRCm39) |
D1201V |
possibly damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,149,452 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
G |
T |
9: 119,346,604 (GRCm39) |
P1016Q |
possibly damaging |
Het |
| Selenot |
T |
A |
3: 58,493,503 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
C |
T |
1: 189,632,043 (GRCm39) |
R107Q |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,593,073 (GRCm39) |
K136E |
probably benign |
Het |
| Trio |
T |
C |
15: 27,912,829 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,225,303 (GRCm39) |
I645T |
probably damaging |
Het |
| Uts2r |
T |
A |
11: 121,051,172 (GRCm39) |
M12K |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,207,115 (GRCm39) |
N192S |
probably benign |
Het |
|
| Other mutations in Ceacam23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Ceacam23
|
APN |
7 |
17,649,616 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01135:Ceacam23
|
APN |
7 |
17,636,396 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01291:Ceacam23
|
APN |
7 |
17,639,041 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02252:Ceacam23
|
APN |
7 |
17,644,457 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03243:Ceacam23
|
APN |
7 |
17,652,574 (GRCm39) |
exon |
noncoding transcript |
|
|
R0113:Ceacam23
|
UTSW |
7 |
17,642,873 (GRCm39) |
exon |
noncoding transcript |
|
|
R0833:Ceacam23
|
UTSW |
7 |
17,638,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0836:Ceacam23
|
UTSW |
7 |
17,638,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1462:Ceacam23
|
UTSW |
7 |
17,649,516 (GRCm39) |
exon |
noncoding transcript |
|
|
R1473:Ceacam23
|
UTSW |
7 |
17,639,016 (GRCm39) |
exon |
noncoding transcript |
|
|
R1817:Ceacam23
|
UTSW |
7 |
17,607,255 (GRCm39) |
exon |
noncoding transcript |
|
|
R1905:Ceacam23
|
UTSW |
7 |
17,607,477 (GRCm39) |
exon |
noncoding transcript |
|
|
R2362:Ceacam23
|
UTSW |
7 |
17,636,398 (GRCm39) |
exon |
noncoding transcript |
|
|
R3721:Ceacam23
|
UTSW |
7 |
17,636,663 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4305:Ceacam23
|
UTSW |
7 |
17,639,118 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4567:Ceacam23
|
UTSW |
7 |
17,642,891 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4587:Ceacam23
|
UTSW |
7 |
17,620,149 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4691:Ceacam23
|
UTSW |
7 |
17,642,891 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4989:Ceacam23
|
UTSW |
7 |
17,639,143 (GRCm39) |
splice site |
probably null |
|
|
R5023:Ceacam23
|
UTSW |
7 |
17,636,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Ceacam23
|
UTSW |
7 |
17,644,607 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5274:Ceacam23
|
UTSW |
7 |
17,649,642 (GRCm39) |
splice site |
probably null |
|
|
R5279:Ceacam23
|
UTSW |
7 |
17,607,214 (GRCm39) |
splice site |
noncoding transcript |
|
|
R5304:Ceacam23
|
UTSW |
7 |
17,636,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5312:Ceacam23
|
UTSW |
7 |
17,643,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5899:Ceacam23
|
UTSW |
7 |
17,651,369 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-08-05 |
Incidental Mutation