Incidental Mutation 'R8775:Psg25'
| ID |
664659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg25
|
| Ensembl Gene |
ENSMUSG00000070798 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 25 |
| Synonyms |
cea13 |
| MMRRC Submission |
068719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R8775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18253627-18266191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 18255153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 454
(C454W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094795]
|
| AlphaFold |
Q497W1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094795
AA Change: C454W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092389
Gene: ENSMUSG00000070798
AA Change: C454W
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.15e-3 |
SMART |
|
IG
|
160 |
261 |
1.55e0 |
SMART |
|
IG
|
280 |
381 |
3.59e-5 |
SMART |
|
IGc2
|
397 |
461 |
1.02e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
C |
6: 39,552,142 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
C |
7: 80,727,598 (GRCm39) |
M243L |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,499,093 (GRCm39) |
Y860N |
possibly damaging |
Het |
| Asprv1 |
T |
C |
6: 86,605,321 (GRCm39) |
S56P |
probably damaging |
Het |
| D130043K22Rik |
G |
T |
13: 25,040,982 (GRCm39) |
E135* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,511,711 (GRCm39) |
H293R |
possibly damaging |
Het |
| Dsg1a |
C |
T |
18: 20,473,564 (GRCm39) |
S879L |
probably damaging |
Het |
| Fbxo24 |
C |
T |
5: 137,611,213 (GRCm39) |
A526T |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,810,891 (GRCm39) |
D126E |
probably benign |
Het |
| Gpr137 |
A |
G |
19: 6,915,800 (GRCm39) |
F377L |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,009 (GRCm39) |
K44E |
probably damaging |
Het |
| Iigp1 |
A |
C |
18: 60,523,596 (GRCm39) |
Y238S |
probably damaging |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,782,149 (GRCm39) |
N258S |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,669,023 (GRCm39) |
I84T |
possibly damaging |
Het |
| Mansc1 |
C |
T |
6: 134,587,631 (GRCm39) |
R182H |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,148,006 (GRCm39) |
M1685T |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,800,145 (GRCm39) |
V1407E |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,375,410 (GRCm39) |
S297P |
probably benign |
Het |
| Nefm |
T |
C |
14: 68,362,108 (GRCm39) |
Y52C |
probably damaging |
Het |
| Ntng2 |
A |
T |
2: 29,117,976 (GRCm39) |
N157K |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,970,619 (GRCm39) |
V136A |
probably benign |
Het |
| Oser1 |
G |
A |
2: 163,249,004 (GRCm39) |
T66I |
probably benign |
Het |
| Palld |
A |
G |
8: 62,138,006 (GRCm39) |
L583P |
possibly damaging |
Het |
| Pex7 |
A |
G |
10: 19,760,522 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 101,004,204 (GRCm39) |
Y378H |
probably benign |
Het |
| Prss33 |
T |
A |
17: 24,052,885 (GRCm39) |
N263I |
possibly damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,649,001 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
A |
T |
5: 34,719,751 (GRCm39) |
S587C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,664,006 (GRCm39) |
F493L |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,519,472 (GRCm39) |
T339S |
possibly damaging |
Het |
| Taok1 |
T |
C |
11: 77,470,632 (GRCm39) |
K58E |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,749,643 (GRCm39) |
D838G |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,164,914 (GRCm39) |
T65A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,638,466 (GRCm39) |
S205T |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r37 |
A |
T |
7: 9,218,991 (GRCm39) |
Y464* |
probably null |
Het |
| Wdsub1 |
A |
G |
2: 59,693,014 (GRCm39) |
M300T |
probably damaging |
Het |
| Xrcc5 |
C |
T |
1: 72,433,089 (GRCm39) |
T716I |
probably benign |
Het |
| Zfp619 |
G |
T |
7: 39,184,639 (GRCm39) |
C223F |
possibly damaging |
Het |
|
| Other mutations in Psg25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Psg25
|
APN |
7 |
18,260,106 (GRCm39) |
splice site |
probably benign |
|
|
IGL00508:Psg25
|
APN |
7 |
18,263,656 (GRCm39) |
missense |
probably benign |
|
|
IGL01154:Psg25
|
APN |
7 |
18,258,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01388:Psg25
|
APN |
7 |
18,263,590 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02222:Psg25
|
APN |
7 |
18,263,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02261:Psg25
|
APN |
7 |
18,255,268 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02309:Psg25
|
APN |
7 |
18,260,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02803:Psg25
|
APN |
7 |
18,260,212 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03334:Psg25
|
APN |
7 |
18,263,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0711:Psg25
|
UTSW |
7 |
18,263,485 (GRCm39) |
nonsense |
probably null |
|
|
R1458:Psg25
|
UTSW |
7 |
18,263,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Psg25
|
UTSW |
7 |
18,265,928 (GRCm39) |
nonsense |
probably null |
|
|
R2064:Psg25
|
UTSW |
7 |
18,255,178 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2066:Psg25
|
UTSW |
7 |
18,263,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4485:Psg25
|
UTSW |
7 |
18,260,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Psg25
|
UTSW |
7 |
18,258,816 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4514:Psg25
|
UTSW |
7 |
18,263,533 (GRCm39) |
nonsense |
probably null |
|
|
R4547:Psg25
|
UTSW |
7 |
18,258,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Psg25
|
UTSW |
7 |
18,263,728 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4886:Psg25
|
UTSW |
7 |
18,258,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5121:Psg25
|
UTSW |
7 |
18,260,461 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5208:Psg25
|
UTSW |
7 |
18,260,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5267:Psg25
|
UTSW |
7 |
18,258,711 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5376:Psg25
|
UTSW |
7 |
18,260,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5425:Psg25
|
UTSW |
7 |
18,258,709 (GRCm39) |
nonsense |
probably null |
|
|
R5749:Psg25
|
UTSW |
7 |
18,258,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6050:Psg25
|
UTSW |
7 |
18,260,403 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6862:Psg25
|
UTSW |
7 |
18,255,323 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6962:Psg25
|
UTSW |
7 |
18,263,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Psg25
|
UTSW |
7 |
18,266,127 (GRCm39) |
start gained |
probably benign |
|
|
R7782:Psg25
|
UTSW |
7 |
18,255,227 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7812:Psg25
|
UTSW |
7 |
18,255,093 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8155:Psg25
|
UTSW |
7 |
18,260,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775-TAIL:Psg25
|
UTSW |
7 |
18,255,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Psg25
|
UTSW |
7 |
18,263,519 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9013:Psg25
|
UTSW |
7 |
18,258,690 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9755:Psg25
|
UTSW |
7 |
18,260,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Psg25
|
UTSW |
7 |
18,263,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTGTGTGGAGGGTAC -3'
(R):5'- AGTTCGAGTACAGAGCTCAGT -3'
Sequencing Primer
(F):5'- CCAAGGGAGTATGCTTGAATCTCAC -3'
(R):5'- GAGTACAGAGCTCAGTTGTCTTCAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation