Incidental Mutation 'IGL00492:Psg20'
| ID |
332219 |
| 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: 0.052)
|
| Stock # |
IGL00492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18408032-18420110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18408536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 395
(T395A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076677]
[ENSMUST00000108482]
|
| AlphaFold |
E9Q9B4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076677
AA Change: T395A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305
AA Change: T395A
| 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 |
possibly damaging
Transcript: ENSMUST00000108482
AA Change: T392A
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305
AA Change: T392A
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap29 |
G |
T |
3: 121,796,961 (GRCm39) |
E108* |
probably null |
Het |
| Braf |
A |
T |
6: 39,637,933 (GRCm39) |
|
probably null |
Het |
| Calr3 |
G |
A |
8: 73,185,240 (GRCm39) |
Q112* |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,320,110 (GRCm39) |
I649T |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,577,670 (GRCm39) |
V65A |
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,209,646 (GRCm39) |
Y126H |
probably damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,856,776 (GRCm39) |
Y170* |
probably null |
Het |
| Efcab7 |
A |
G |
4: 99,719,700 (GRCm39) |
T61A |
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,332,730 (GRCm39) |
L83M |
probably damaging |
Het |
| Fbxo17 |
A |
C |
7: 28,434,766 (GRCm39) |
S184R |
probably damaging |
Het |
| Fcf1 |
T |
C |
12: 85,029,106 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,153,723 (GRCm39) |
Y223C |
probably damaging |
Het |
| Kcnn1 |
A |
G |
8: 71,300,706 (GRCm39) |
F432S |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,719,231 (GRCm39) |
|
probably benign |
Het |
| Lce1j |
T |
C |
3: 92,696,713 (GRCm39) |
T22A |
unknown |
Het |
| Lrfn5 |
T |
A |
12: 61,890,912 (GRCm39) |
S734T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,852,760 (GRCm39) |
S2253R |
possibly damaging |
Het |
| Msantd5f1 |
C |
T |
4: 73,605,570 (GRCm39) |
T327I |
probably damaging |
Het |
| Myrfl |
G |
A |
10: 116,632,011 (GRCm39) |
L645F |
possibly damaging |
Het |
| Nudt9 |
A |
G |
5: 104,209,628 (GRCm39) |
|
probably benign |
Het |
| Ostn |
T |
A |
16: 27,140,132 (GRCm39) |
M15K |
possibly damaging |
Het |
| Rpf1 |
G |
A |
3: 146,218,002 (GRCm39) |
H171Y |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,063,902 (GRCm39) |
E1325G |
probably damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,571,499 (GRCm39) |
V77L |
probably benign |
Het |
| Tbck |
A |
C |
3: 132,428,501 (GRCm39) |
K285N |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,468 (GRCm39) |
C86Y |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,381 (GRCm39) |
I73T |
probably damaging |
Het |
| Zfp512b |
T |
C |
2: 181,228,862 (GRCm39) |
D701G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,192 (GRCm39) |
Y379N |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 166,878,843 (GRCm39) |
H980Q |
probably damaging |
Het |
|
| Other mutations in Psg20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL02522:Psg20
|
APN |
7 |
18,416,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
2015-08-05 |
Incidental Mutation