Incidental Mutation 'R0604:Psg27'
| ID |
55587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg27
|
| Ensembl Gene |
ENSMUSG00000070797 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 27 |
| Synonyms |
cea15, EG545925 |
| MMRRC Submission |
038793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0604 (G1)
|
| Quality Score |
212 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18290439-18301230 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18290997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 402
(V402D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094794]
|
| AlphaFold |
Q497W2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094794
AA Change: V402D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092388
Gene: ENSMUSG00000070797
AA Change: V402D
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
39 |
140 |
4.13e-5 |
SMART |
|
IG
|
159 |
260 |
5.89e-1 |
SMART |
|
IG
|
279 |
380 |
1.39e-2 |
SMART |
|
IGc2
|
396 |
460 |
3.62e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
T |
C |
11: 69,775,451 (GRCm39) |
E302G |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Adrb2 |
G |
A |
18: 62,311,586 (GRCm39) |
T413I |
possibly damaging |
Het |
| Aqr |
T |
C |
2: 113,961,085 (GRCm39) |
K725R |
probably benign |
Het |
| Braf |
A |
G |
6: 39,600,631 (GRCm39) |
I662T |
probably damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,200,500 (GRCm39) |
S435P |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,763,170 (GRCm39) |
M2332V |
possibly damaging |
Het |
| Clgn |
T |
C |
8: 84,150,823 (GRCm39) |
V496A |
probably benign |
Het |
| Dnah17 |
A |
C |
11: 118,012,297 (GRCm39) |
S193R |
probably benign |
Het |
| Dntt |
A |
G |
19: 41,041,588 (GRCm39) |
E424G |
probably benign |
Het |
| Fam149a |
A |
G |
8: 45,798,045 (GRCm39) |
L492P |
probably damaging |
Het |
| Fetub |
T |
C |
16: 22,754,410 (GRCm39) |
Y126H |
possibly damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,890,126 (GRCm39) |
Y96F |
probably damaging |
Het |
| Gm4952 |
A |
G |
19: 12,602,036 (GRCm39) |
E148G |
probably benign |
Het |
| Gucy2g |
T |
A |
19: 55,191,519 (GRCm39) |
L977F |
probably benign |
Het |
| Il1r1 |
T |
C |
1: 40,321,406 (GRCm39) |
V6A |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,708,189 (GRCm39) |
Q832K |
probably benign |
Het |
| Lats1 |
T |
A |
10: 7,588,425 (GRCm39) |
F1014Y |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,606,823 (GRCm39) |
A536V |
probably damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,653,327 (GRCm39) |
V334A |
possibly damaging |
Het |
| Or1j21 |
T |
A |
2: 36,684,119 (GRCm39) |
Y290* |
probably null |
Het |
| Or2t46 |
T |
A |
11: 58,472,174 (GRCm39) |
M168K |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or4p18 |
T |
C |
2: 88,232,727 (GRCm39) |
T184A |
probably benign |
Het |
| Pard6g |
A |
G |
18: 80,160,423 (GRCm39) |
S179G |
probably damaging |
Het |
| Pierce1 |
C |
A |
2: 28,356,103 (GRCm39) |
R60L |
possibly damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
| Rttn |
A |
G |
18: 88,995,882 (GRCm39) |
I222V |
probably damaging |
Het |
| Sp9 |
T |
A |
2: 73,103,982 (GRCm39) |
S179T |
probably benign |
Het |
| Tbc1d8 |
T |
A |
1: 39,444,407 (GRCm39) |
H184L |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,581 (GRCm39) |
V50A |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,510,000 (GRCm39) |
F526L |
possibly damaging |
Het |
|
| Other mutations in Psg27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Psg27
|
APN |
7 |
18,295,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00417:Psg27
|
APN |
7 |
18,295,842 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01344:Psg27
|
APN |
7 |
18,294,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01781:Psg27
|
APN |
7 |
18,298,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Psg27
|
APN |
7 |
18,294,553 (GRCm39) |
missense |
probably benign |
|
|
IGL02926:Psg27
|
APN |
7 |
18,291,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03074:Psg27
|
APN |
7 |
18,294,454 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03237:Psg27
|
APN |
7 |
18,294,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02796:Psg27
|
UTSW |
7 |
18,295,875 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0437:Psg27
|
UTSW |
7 |
18,294,636 (GRCm39) |
splice site |
probably benign |
|
|
R1163:Psg27
|
UTSW |
7 |
18,299,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2072:Psg27
|
UTSW |
7 |
18,298,934 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2072:Psg27
|
UTSW |
7 |
18,294,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Psg27
|
UTSW |
7 |
18,294,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Psg27
|
UTSW |
7 |
18,294,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2081:Psg27
|
UTSW |
7 |
18,290,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Psg27
|
UTSW |
7 |
18,301,036 (GRCm39) |
nonsense |
probably null |
|
|
R2866:Psg27
|
UTSW |
7 |
18,295,818 (GRCm39) |
missense |
probably benign |
|
|
R3783:Psg27
|
UTSW |
7 |
18,294,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Psg27
|
UTSW |
7 |
18,294,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4463:Psg27
|
UTSW |
7 |
18,291,010 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5312:Psg27
|
UTSW |
7 |
18,290,958 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5885:Psg27
|
UTSW |
7 |
18,295,711 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6087:Psg27
|
UTSW |
7 |
18,290,869 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7011:Psg27
|
UTSW |
7 |
18,290,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7198:Psg27
|
UTSW |
7 |
18,295,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Psg27
|
UTSW |
7 |
18,301,008 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7964:Psg27
|
UTSW |
7 |
18,299,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8398:Psg27
|
UTSW |
7 |
18,295,837 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8472:Psg27
|
UTSW |
7 |
18,296,015 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8818:Psg27
|
UTSW |
7 |
18,294,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9345:Psg27
|
UTSW |
7 |
18,299,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0064:Psg27
|
UTSW |
7 |
18,295,720 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGGGTCACTCATTCATCACGG -3'
(R):5'- TTTGTAGGTTGCAGATGCAAAGCAC -3'
Sequencing Primer
(F):5'- TCATTCATCACGGCCAGG -3'
(R):5'- ATCTATAGTCACAGCTCCAATTTCTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation