Incidental Mutation 'IGL01572:Ceacam20'
| ID |
91144 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ceacam20
|
| Ensembl Gene |
ENSMUSG00000070777 |
| Gene Name |
CEA cell adhesion molecule 20 |
| Synonyms |
9130012D09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
IGL01572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19699337-19725029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19708199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 268
(V268A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094753]
|
| AlphaFold |
Q9D2Z1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094753
AA Change: V268A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: V268A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
IG
|
57 |
139 |
1.4e-7 |
SMART |
|
IGc2
|
162 |
220 |
1.68e-5 |
SMART |
|
IG
|
244 |
326 |
1.85e-7 |
SMART |
|
IGc2
|
349 |
406 |
4.67e-4 |
SMART |
|
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
473 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207248
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
A |
G |
5: 67,824,994 (GRCm39) |
V779A |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,715 (GRCm39) |
S1199P |
probably damaging |
Het |
| BC051076 |
C |
A |
5: 88,112,549 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,784,621 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
T |
G |
1: 132,455,909 (GRCm39) |
D203A |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,051,300 (GRCm39) |
N148D |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,861,010 (GRCm39) |
V2131E |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,841,054 (GRCm39) |
|
probably null |
Het |
| Eif5b |
A |
T |
1: 38,061,335 (GRCm39) |
K409* |
probably null |
Het |
| Fam237b |
T |
A |
5: 5,625,475 (GRCm39) |
I57K |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,175,003 (GRCm39) |
V868A |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,843,189 (GRCm39) |
T767A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,347,905 (GRCm39) |
V759E |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,038,311 (GRCm39) |
T171A |
probably damaging |
Het |
| Krt33b |
T |
C |
11: 99,917,378 (GRCm39) |
D158G |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,334,414 (GRCm39) |
R198G |
probably benign |
Het |
| Mst1r |
C |
A |
9: 107,788,791 (GRCm39) |
R437S |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,920,585 (GRCm39) |
I458K |
possibly damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,283 (GRCm39) |
I256M |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,324,230 (GRCm39) |
N1418K |
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,762,232 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
G |
T |
1: 165,927,941 (GRCm39) |
A557E |
probably benign |
Het |
| Zfp595 |
A |
T |
13: 67,465,465 (GRCm39) |
I266K |
possibly damaging |
Het |
|
| Other mutations in Ceacam20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01574:Ceacam20
|
APN |
7 |
19,708,247 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02407:Ceacam20
|
APN |
7 |
19,704,332 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03035:Ceacam20
|
APN |
7 |
19,711,833 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03144:Ceacam20
|
APN |
7 |
19,705,444 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0129:Ceacam20
|
UTSW |
7 |
19,710,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Ceacam20
|
UTSW |
7 |
19,720,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0616:Ceacam20
|
UTSW |
7 |
19,704,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1016:Ceacam20
|
UTSW |
7 |
19,710,227 (GRCm39) |
missense |
probably null |
|
|
R1218:Ceacam20
|
UTSW |
7 |
19,710,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1257:Ceacam20
|
UTSW |
7 |
19,708,117 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2334:Ceacam20
|
UTSW |
7 |
19,705,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3051:Ceacam20
|
UTSW |
7 |
19,710,110 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4184:Ceacam20
|
UTSW |
7 |
19,710,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Ceacam20
|
UTSW |
7 |
19,719,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Ceacam20
|
UTSW |
7 |
19,719,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Ceacam20
|
UTSW |
7 |
19,719,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Ceacam20
|
UTSW |
7 |
19,705,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Ceacam20
|
UTSW |
7 |
19,699,453 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5450:Ceacam20
|
UTSW |
7 |
19,712,133 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5561:Ceacam20
|
UTSW |
7 |
19,704,318 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6118:Ceacam20
|
UTSW |
7 |
19,705,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6414:Ceacam20
|
UTSW |
7 |
19,710,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Ceacam20
|
UTSW |
7 |
19,723,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Ceacam20
|
UTSW |
7 |
19,701,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Ceacam20
|
UTSW |
7 |
19,704,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Ceacam20
|
UTSW |
7 |
19,710,109 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8222:Ceacam20
|
UTSW |
7 |
19,705,618 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8265:Ceacam20
|
UTSW |
7 |
19,708,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Ceacam20
|
UTSW |
7 |
19,705,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8823:Ceacam20
|
UTSW |
7 |
19,705,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9325:Ceacam20
|
UTSW |
7 |
19,720,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9367:Ceacam20
|
UTSW |
7 |
19,705,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9553:Ceacam20
|
UTSW |
7 |
19,723,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ceacam20
|
UTSW |
7 |
19,704,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation