Incidental Mutation 'R4499:Psg25'
| ID |
331751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg25
|
| Ensembl Gene |
ENSMUSG00000070798 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 25 |
| Synonyms |
cea13 |
| MMRRC Submission |
041752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4499 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18253627-18266191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18258816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 287
(E287K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094795]
|
| AlphaFold |
Q497W1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094795
AA Change: E287K
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092389
Gene: ENSMUSG00000070798
AA Change: E287K
| 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 |
|
| Meta Mutation Damage Score |
0.4532 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
92% (47/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,646 (GRCm39) |
W948R |
possibly damaging |
Het |
| Ache |
A |
C |
5: 137,290,194 (GRCm39) |
M508L |
probably damaging |
Het |
| Adgrb2 |
A |
T |
4: 129,886,454 (GRCm39) |
E198V |
probably damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,216,422 (GRCm39) |
N535S |
possibly damaging |
Het |
| Agbl3 |
T |
C |
6: 34,834,533 (GRCm39) |
S906P |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,278 (GRCm39) |
T282A |
probably benign |
Het |
| Arfgef2 |
G |
A |
2: 166,727,734 (GRCm39) |
V1561M |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,484,091 (GRCm39) |
D1388G |
possibly damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,387,129 (GRCm39) |
V166A |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,990,004 (GRCm39) |
I29V |
probably benign |
Het |
| Bpifb5 |
A |
T |
2: 154,082,678 (GRCm39) |
I484F |
possibly damaging |
Het |
| Camta2 |
T |
C |
11: 70,565,512 (GRCm39) |
E788G |
probably damaging |
Het |
| Ccdc18 |
T |
G |
5: 108,376,826 (GRCm39) |
S1422R |
possibly damaging |
Het |
| Cdc42bpg |
C |
T |
19: 6,370,585 (GRCm39) |
P1226L |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,101,589 (GRCm39) |
N315S |
possibly damaging |
Het |
| Dcaf4 |
T |
A |
12: 83,586,134 (GRCm39) |
L367Q |
probably damaging |
Het |
| Dcc |
A |
T |
18: 71,680,388 (GRCm39) |
V616D |
probably benign |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dgkq |
C |
G |
5: 108,797,527 (GRCm39) |
E788D |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
| Gm8221 |
T |
A |
15: 77,510,245 (GRCm39) |
|
noncoding transcript |
Het |
| Ice1 |
T |
C |
13: 70,757,146 (GRCm39) |
S280G |
possibly damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,713 (GRCm39) |
Q155L |
probably benign |
Het |
| Mesd |
G |
A |
7: 83,547,185 (GRCm39) |
R216Q |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,287,697 (GRCm39) |
N112K |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,781,778 (GRCm39) |
E307G |
probably benign |
Het |
| Nod1 |
T |
A |
6: 54,920,981 (GRCm39) |
N446Y |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,339,913 (GRCm39) |
T787I |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,615 (GRCm39) |
S56G |
probably benign |
Het |
| Slc16a7 |
T |
C |
10: 125,064,056 (GRCm39) |
N427S |
probably damaging |
Het |
| Slc47a1 |
T |
A |
11: 61,250,355 (GRCm39) |
I341L |
probably benign |
Het |
| Slc9a8 |
T |
A |
2: 167,266,113 (GRCm39) |
L30Q |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,283,893 (GRCm39) |
L49* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,530,722 (GRCm39) |
D2326E |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,950,431 (GRCm39) |
I688T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,746,822 (GRCm39) |
E4742D |
probably benign |
Het |
| Vps37b |
T |
C |
5: 124,145,689 (GRCm39) |
I117V |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,782 (GRCm39) |
M2008L |
probably benign |
Het |
| Zfp1005 |
T |
G |
2: 150,111,362 (GRCm39) |
V684G |
possibly damaging |
Het |
| Zfp53 |
A |
G |
17: 21,729,497 (GRCm39) |
E510G |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,764,365 (GRCm39) |
S578R |
probably benign |
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 |
|
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: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'- TTTCTCAGTGACATCCTGGAGC -3'
(R):5'- GACACACCCTTACATGCCTG -3'
Sequencing Primer
(F):5'- AGGGATCCATCGGTGTACCCTATC -3'
(R):5'- CATGCCTGTCTATGCTGAATGAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation