Incidental Mutation 'IGL02449:Psg20'
| ID |
294097 |
| 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 # |
IGL02449
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18408032-18420110 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 18418333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076677]
[ENSMUST00000108482]
|
| AlphaFold |
E9Q9B4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076677
|
| SMART Domains |
Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,440,908 (GRCm39) |
|
probably null |
Het |
| Akap6 |
A |
G |
12: 53,186,971 (GRCm39) |
T1462A |
probably damaging |
Het |
| Arl6ip6 |
T |
C |
2: 53,082,538 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
A |
T |
10: 50,576,695 (GRCm39) |
Q883H |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,807,358 (GRCm39) |
|
probably null |
Het |
| Cds1 |
G |
A |
5: 101,963,794 (GRCm39) |
G371D |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,548,751 (GRCm39) |
L2198P |
probably damaging |
Het |
| Cyp2d22 |
C |
T |
15: 82,257,442 (GRCm39) |
G241D |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,867,584 (GRCm39) |
|
probably benign |
Het |
| Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,894,234 (GRCm39) |
V186A |
probably benign |
Het |
| Gm9637 |
T |
A |
14: 19,402,436 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr180 |
T |
C |
14: 118,397,532 (GRCm39) |
L342P |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,559,095 (GRCm39) |
|
probably null |
Het |
| Kcnab2 |
C |
A |
4: 152,496,441 (GRCm39) |
|
probably null |
Het |
| Lax1 |
A |
G |
1: 133,607,874 (GRCm39) |
V289A |
probably damaging |
Het |
| Ly6k |
T |
G |
15: 74,668,934 (GRCm39) |
D115A |
probably benign |
Het |
| Mcc |
A |
C |
18: 44,593,025 (GRCm39) |
I670S |
probably benign |
Het |
| Mpdz |
C |
A |
4: 81,247,659 (GRCm39) |
|
probably null |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,431 (GRCm39) |
L34* |
probably null |
Het |
| Mtor |
T |
A |
4: 148,618,378 (GRCm39) |
H1730Q |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,503 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,185,440 (GRCm39) |
|
probably null |
Het |
| Naip5 |
A |
T |
13: 100,358,683 (GRCm39) |
V851E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,091,918 (GRCm39) |
I1277V |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,264,396 (GRCm39) |
M683T |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,646,641 (GRCm39) |
Y663C |
probably damaging |
Het |
| Padi3 |
C |
T |
4: 140,517,023 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
G |
5: 14,565,357 (GRCm39) |
D41G |
probably damaging |
Het |
| Pds5a |
A |
T |
5: 65,776,353 (GRCm39) |
N80K |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,070,963 (GRCm39) |
D812N |
possibly damaging |
Het |
| Ptch2 |
C |
A |
4: 116,965,380 (GRCm39) |
L322I |
possibly damaging |
Het |
| Ptprv |
T |
C |
1: 135,039,074 (GRCm39) |
|
noncoding transcript |
Het |
| Scn2b |
A |
G |
9: 45,036,812 (GRCm39) |
K107E |
probably damaging |
Het |
| Slc24a4 |
A |
C |
12: 102,193,341 (GRCm39) |
I226L |
probably benign |
Het |
| Spink4 |
A |
G |
4: 40,929,190 (GRCm39) |
M72V |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,411,263 (GRCm39) |
M676K |
possibly damaging |
Het |
| Svep1 |
A |
C |
4: 58,070,296 (GRCm39) |
C2497G |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,914,449 (GRCm39) |
T2362S |
probably damaging |
Het |
| Tgm3 |
G |
T |
2: 129,880,529 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
A |
1: 14,968,381 (GRCm39) |
T462S |
probably damaging |
Het |
| Ucp2 |
G |
A |
7: 100,148,017 (GRCm39) |
V237M |
probably damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,316,288 (GRCm39) |
L510F |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,387,589 (GRCm39) |
T4874M |
unknown |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp974 |
T |
A |
7: 27,611,152 (GRCm39) |
Y191F |
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 |
|
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 |
2015-04-16 |
Incidental Mutation