Incidental Mutation 'R6050:Psg25'
| ID |
483500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg25
|
| Ensembl Gene |
ENSMUSG00000070798 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 25 |
| Synonyms |
cea13 |
| MMRRC Submission |
044218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6050 (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 G
at 18260403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 165
(V165A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094795]
|
| AlphaFold |
Q497W1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094795
AA Change: V165A
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092389
Gene: ENSMUSG00000070798
AA Change: V165A
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,793,202 (GRCm39) |
D1481G |
possibly damaging |
Het |
| Ak9 |
A |
G |
10: 41,265,108 (GRCm39) |
E955G |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,219,814 (GRCm39) |
F1138S |
possibly damaging |
Het |
| Bbs2 |
T |
A |
8: 94,819,160 (GRCm39) |
N70Y |
probably damaging |
Het |
| BC048679 |
T |
C |
7: 81,145,339 (GRCm39) |
I70V |
possibly damaging |
Het |
| Catspere2 |
G |
A |
1: 177,931,490 (GRCm39) |
A470T |
unknown |
Het |
| Ccdc141 |
G |
T |
2: 76,842,075 (GRCm39) |
A1452E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,812 (GRCm39) |
D1883G |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,397 (GRCm39) |
I280M |
possibly damaging |
Het |
| Cmtr1 |
G |
T |
17: 29,901,108 (GRCm39) |
K678N |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,793,530 (GRCm39) |
D329G |
possibly damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
| Fcf1 |
G |
A |
12: 85,029,017 (GRCm39) |
C154Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,560,433 (GRCm39) |
N1358S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,445,229 (GRCm39) |
I608M |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,526,158 (GRCm39) |
D210N |
possibly damaging |
Het |
| Ift140 |
C |
T |
17: 25,309,979 (GRCm39) |
R1129C |
probably damaging |
Het |
| Lias |
A |
G |
5: 65,551,315 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mlh3 |
T |
C |
12: 85,287,620 (GRCm39) |
T1342A |
possibly damaging |
Het |
| Mn1 |
A |
G |
5: 111,567,263 (GRCm39) |
Y411C |
probably damaging |
Het |
| Mrps21 |
C |
T |
3: 95,770,200 (GRCm39) |
R43H |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,240,054 (GRCm39) |
Q172* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,362,501 (GRCm39) |
T1375A |
probably benign |
Het |
| Oga |
A |
C |
19: 45,753,919 (GRCm39) |
S652A |
possibly damaging |
Het |
| Ovol3 |
T |
A |
7: 29,933,819 (GRCm39) |
Y101F |
probably benign |
Het |
| Pcbp4 |
T |
C |
9: 106,339,422 (GRCm39) |
V45A |
probably benign |
Het |
| Plec |
T |
C |
15: 76,072,458 (GRCm39) |
E709G |
probably damaging |
Het |
| Prcc |
G |
A |
3: 87,777,191 (GRCm39) |
T261I |
probably damaging |
Het |
| Rfk |
C |
T |
19: 17,376,896 (GRCm39) |
P133S |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,218,383 (GRCm39) |
T251M |
unknown |
Het |
| Sec14l2 |
T |
C |
11: 4,061,477 (GRCm39) |
D67G |
probably benign |
Het |
| Smtnl1 |
A |
G |
2: 84,641,797 (GRCm39) |
I441T |
probably damaging |
Het |
| Tbce |
C |
T |
13: 14,173,019 (GRCm39) |
V471I |
possibly damaging |
Het |
| Tnip1 |
G |
A |
11: 54,808,703 (GRCm39) |
R495C |
probably damaging |
Het |
| Trbv19 |
A |
G |
6: 41,155,944 (GRCm39) |
K105R |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,010,744 (GRCm39) |
N229I |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,521 (GRCm39) |
F5028L |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,691 (GRCm39) |
S673P |
probably damaging |
Het |
| Zfp780b |
A |
T |
7: 27,663,727 (GRCm39) |
I276N |
probably 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 |
|
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:Psg25
|
UTSW |
7 |
18,255,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGAAGCAGCAGGGATCCATTG -3'
(R):5'- ACTCCACCAAGTATAGCAGGGAG -3'
Sequencing Primer
(F):5'- AGGGATCCATTGCTGTACAC -3'
(R):5'- GGGAGACCCTCACCCAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation