Incidental Mutation 'R5749:Psg25'
ID |
445914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psg25
|
Ensembl Gene |
ENSMUSG00000070798 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 25 |
Synonyms |
cea13 |
MMRRC Submission |
043200-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R5749 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
18253627-18266191 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18258776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 300
(E300G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094795]
|
AlphaFold |
Q497W1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094795
AA Change: E300G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092389 Gene: ENSMUSG00000070798 AA Change: E300G
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
G |
A |
11: 54,214,881 (GRCm39) |
|
probably null |
Het |
Ankrd12 |
T |
C |
17: 66,293,091 (GRCm39) |
S781G |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,782,799 (GRCm39) |
S523P |
probably benign |
Het |
Ccdc163 |
T |
A |
4: 116,571,309 (GRCm39) |
C44* |
probably null |
Het |
Ccdc83 |
T |
C |
7: 89,873,156 (GRCm39) |
T400A |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,216,965 (GRCm39) |
S426P |
possibly damaging |
Het |
Cyp2b19 |
T |
C |
7: 26,462,844 (GRCm39) |
I242T |
possibly damaging |
Het |
Efnb2 |
A |
C |
8: 8,689,347 (GRCm39) |
C92G |
probably damaging |
Het |
Fam90a1a |
T |
A |
8: 22,453,057 (GRCm39) |
S137R |
possibly damaging |
Het |
Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
Fem1b |
A |
G |
9: 62,704,288 (GRCm39) |
L324P |
probably damaging |
Het |
Fsd1 |
T |
A |
17: 56,302,849 (GRCm39) |
|
probably null |
Het |
Gtpbp4 |
A |
G |
13: 9,045,983 (GRCm39) |
|
probably null |
Het |
Ifi209 |
A |
C |
1: 173,464,893 (GRCm39) |
I8L |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,266,889 (GRCm39) |
E182G |
probably damaging |
Het |
Itsn1 |
T |
A |
16: 91,703,743 (GRCm39) |
L87H |
probably damaging |
Het |
Klk1b16 |
T |
C |
7: 43,790,210 (GRCm39) |
I160T |
probably benign |
Het |
Lbp |
T |
A |
2: 158,161,673 (GRCm39) |
V52D |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,764,347 (GRCm39) |
V318A |
possibly damaging |
Het |
Myo16 |
C |
T |
8: 10,463,245 (GRCm39) |
S604L |
probably benign |
Het |
Or10ag52 |
C |
T |
2: 87,043,287 (GRCm39) |
T17I |
probably benign |
Het |
Or10g1 |
T |
A |
14: 52,647,961 (GRCm39) |
M123L |
probably damaging |
Het |
Or5b12 |
A |
G |
19: 12,897,589 (GRCm39) |
V28A |
probably benign |
Het |
Or6c38 |
A |
T |
10: 128,928,966 (GRCm39) |
N292K |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,007,525 (GRCm39) |
D346G |
probably damaging |
Het |
Ppara |
A |
T |
15: 85,673,229 (GRCm39) |
D140V |
probably benign |
Het |
Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
Prss36 |
T |
A |
7: 127,532,814 (GRCm39) |
I192F |
probably damaging |
Het |
Pxylp1 |
A |
G |
9: 96,738,424 (GRCm39) |
F26L |
possibly damaging |
Het |
Rapgef4 |
A |
T |
2: 72,073,101 (GRCm39) |
T796S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,534,267 (GRCm39) |
H3508R |
probably damaging |
Het |
Tep1 |
T |
A |
14: 51,081,529 (GRCm39) |
D1282V |
possibly damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,299,310 (GRCm39) |
E59G |
probably damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Tns3 |
A |
T |
11: 8,401,177 (GRCm39) |
H1040Q |
probably benign |
Het |
Usp10 |
G |
A |
8: 120,667,872 (GRCm39) |
E58K |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
Vmn2r52 |
C |
T |
7: 9,892,959 (GRCm39) |
D727N |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,655,979 (GRCm39) |
K346* |
probably null |
Het |
Vmn2r93 |
T |
A |
17: 18,518,546 (GRCm39) |
F2I |
probably benign |
Het |
Zfp697 |
T |
C |
3: 98,332,780 (GRCm39) |
S69P |
probably benign |
Het |
Zftraf1 |
A |
C |
15: 76,542,844 (GRCm39) |
|
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 |
|
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 |
|
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'- GTCTTTCTCAGTGACATCCTGG -3'
(R):5'- GACACACCCTTACATGCCTG -3'
Sequencing Primer
(F):5'- TTCTCAGTGACATCCTGGAGCAG -3'
(R):5'- TGCTTAGAATGCAGGTCACC -3'
|
Posted On |
2016-11-21 |