Incidental Mutation 'IGL02522:Psg20'
| ID |
296905 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psg20
|
| Ensembl Gene |
ENSMUSG00000063305 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 20 |
| Synonyms |
cea7, EG434540 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
IGL02522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18408032-18420110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18416356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 253
(L253F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076677]
[ENSMUST00000108482]
|
| AlphaFold |
E9Q9B4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076677
AA Change: L253F
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305
AA Change: L253F
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.34e-4 |
SMART |
|
IG
|
160 |
261 |
2.14e0 |
SMART |
|
IG
|
280 |
381 |
8.01e-3 |
SMART |
|
IGc2
|
397 |
461 |
1.47e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108482
AA Change: L253F
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305
AA Change: L253F
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.34e-4 |
SMART |
|
IG
|
160 |
261 |
2.14e0 |
SMART |
|
IG
|
277 |
378 |
8.01e-3 |
SMART |
|
IGc2
|
394 |
458 |
1.47e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
G |
10: 78,903,633 (GRCm39) |
S228P |
probably benign |
Het |
| Apba1 |
T |
C |
19: 23,889,809 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
T |
C |
12: 84,974,684 (GRCm39) |
D486G |
probably damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,646 (GRCm39) |
V357A |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,716 (GRCm39) |
S1833G |
probably benign |
Het |
| Ctsa |
T |
C |
2: 164,681,061 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
G |
A |
3: 86,827,423 (GRCm39) |
P19S |
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,351,381 (GRCm39) |
H308R |
probably benign |
Het |
| Dst |
A |
T |
1: 34,289,781 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,762,336 (GRCm39) |
M201K |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,767,154 (GRCm39) |
D93G |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,676 (GRCm39) |
K172R |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,148,746 (GRCm39) |
S386P |
possibly damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,015,705 (GRCm39) |
N29S |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,655,617 (GRCm39) |
D1127G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,419,298 (GRCm39) |
D2921V |
possibly damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,259,013 (GRCm39) |
Y1125F |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,979,504 (GRCm39) |
K209R |
possibly damaging |
Het |
| Rpsa |
A |
T |
9: 119,960,121 (GRCm39) |
Q228L |
possibly damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,181 (GRCm39) |
I160V |
probably benign |
Het |
| Tec |
C |
T |
5: 72,946,515 (GRCm39) |
V71I |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,540,612 (GRCm39) |
E1463G |
probably benign |
Het |
| Trim12a |
C |
T |
7: 103,950,038 (GRCm39) |
|
probably null |
Het |
| Vcan |
G |
T |
13: 89,852,968 (GRCm39) |
T664K |
probably benign |
Het |
|
| Other mutations in Psg20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Psg20
|
APN |
7 |
18,408,536 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01459:Psg20
|
APN |
7 |
18,416,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:Psg20
|
APN |
7 |
18,414,963 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01678:Psg20
|
APN |
7 |
18,414,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01991:Psg20
|
APN |
7 |
18,418,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02449:Psg20
|
APN |
7 |
18,418,333 (GRCm39) |
splice site |
probably benign |
|
|
IGL03358:Psg20
|
APN |
7 |
18,414,891 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4431001:Psg20
|
UTSW |
7 |
18,408,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Psg20
|
UTSW |
7 |
18,416,432 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0184:Psg20
|
UTSW |
7 |
18,419,901 (GRCm39) |
missense |
probably null |
0.95 |
|
R0894:Psg20
|
UTSW |
7 |
18,414,969 (GRCm39) |
nonsense |
probably null |
|
|
R1291:Psg20
|
UTSW |
7 |
18,418,599 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1997:Psg20
|
UTSW |
7 |
18,416,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2118:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2119:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2120:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2121:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2124:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2127:Psg20
|
UTSW |
7 |
18,416,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3795:Psg20
|
UTSW |
7 |
18,418,374 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4115:Psg20
|
UTSW |
7 |
18,419,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4238:Psg20
|
UTSW |
7 |
18,418,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Psg20
|
UTSW |
7 |
18,414,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5025:Psg20
|
UTSW |
7 |
18,408,291 (GRCm39) |
makesense |
probably null |
|
|
R6294:Psg20
|
UTSW |
7 |
18,416,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6733:Psg20
|
UTSW |
7 |
18,408,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6744:Psg20
|
UTSW |
7 |
18,408,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6799:Psg20
|
UTSW |
7 |
18,418,345 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7466:Psg20
|
UTSW |
7 |
18,418,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7524:Psg20
|
UTSW |
7 |
18,418,584 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7583:Psg20
|
UTSW |
7 |
18,416,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Psg20
|
UTSW |
7 |
18,415,102 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8010:Psg20
|
UTSW |
7 |
18,414,992 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8247:Psg20
|
UTSW |
7 |
18,416,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8762:Psg20
|
UTSW |
7 |
18,408,557 (GRCm39) |
missense |
probably benign |
|
|
R8804:Psg20
|
UTSW |
7 |
18,416,584 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9138:Psg20
|
UTSW |
7 |
18,418,595 (GRCm39) |
missense |
|
|
|
R9279:Psg20
|
UTSW |
7 |
18,416,670 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9683:Psg20
|
UTSW |
7 |
18,416,508 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation