Incidental Mutation 'R4547:Psg25'
| ID |
333822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg25
|
| Ensembl Gene |
ENSMUSG00000070798 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 25 |
| Synonyms |
cea13 |
| MMRRC Submission |
041781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18253627-18266191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18258629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 349
(L349P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094795]
|
| AlphaFold |
Q497W1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094795
AA Change: L349P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092389
Gene: ENSMUSG00000070798
AA Change: L349P
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
T |
14: 54,883,124 (GRCm39) |
A909E |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,913,357 (GRCm39) |
E23G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,817,032 (GRCm39) |
R148G |
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,925 (GRCm39) |
V1604A |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,390,535 (GRCm39) |
T625K |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cfhr3 |
T |
G |
1: 139,512,651 (GRCm39) |
|
noncoding transcript |
Het |
| Csmd1 |
T |
C |
8: 16,441,811 (GRCm39) |
D351G |
possibly damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,169,388 (GRCm39) |
D404E |
probably benign |
Het |
| Dpm1 |
A |
G |
2: 168,065,073 (GRCm39) |
L88P |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 39,005,432 (GRCm39) |
F1944L |
probably damaging |
Het |
| Frmd4a |
C |
A |
2: 4,477,956 (GRCm39) |
L46I |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,548,651 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,537,271 (GRCm39) |
V867E |
probably benign |
Het |
| Lnpk |
C |
G |
2: 74,352,630 (GRCm39) |
E351Q |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,661,878 (GRCm39) |
D364G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,227,467 (GRCm39) |
V567I |
probably benign |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Naaa |
C |
T |
5: 92,411,445 (GRCm39) |
|
probably null |
Het |
| Ncdn |
A |
G |
4: 126,640,467 (GRCm39) |
F542S |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,036,291 (GRCm39) |
N715D |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,382,968 (GRCm39) |
|
probably benign |
Het |
| Or10ag57 |
G |
A |
2: 87,218,504 (GRCm39) |
V152I |
probably benign |
Het |
| Or2t6 |
A |
T |
14: 14,175,854 (GRCm38) |
I76N |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,370,496 (GRCm39) |
|
probably null |
Het |
| Scara5 |
A |
C |
14: 65,908,023 (GRCm39) |
K4N |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,500,119 (GRCm39) |
L211S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,146,731 (GRCm39) |
F285I |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,625 (GRCm39) |
V398A |
possibly damaging |
Het |
| Smc2 |
T |
C |
4: 52,467,866 (GRCm39) |
S737P |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,785,170 (GRCm39) |
I229V |
possibly damaging |
Het |
| Tac1 |
A |
G |
6: 7,557,216 (GRCm39) |
D74G |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,490,771 (GRCm39) |
V607A |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,837,564 (GRCm39) |
V582A |
possibly damaging |
Het |
| Traf4 |
A |
G |
11: 78,051,863 (GRCm39) |
I207T |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,819,068 (GRCm39) |
R449G |
possibly damaging |
Het |
| Ubn1 |
G |
A |
16: 4,889,956 (GRCm39) |
R407H |
probably damaging |
Het |
| Vmn1r19 |
C |
T |
6: 57,381,774 (GRCm39) |
T109I |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vsig8 |
A |
T |
1: 172,388,163 (GRCm39) |
M44L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
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 |
|
|
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'- AAGGACAACCCACTCTTTAGAG -3'
(R):5'- ACTCAGCATCGATCCAGTGC -3'
Sequencing Primer
(F):5'- GACGTGTGCTCTTACAAC -3'
(R):5'- ATCGATCCAGTGCCACGGTATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation