Incidental Mutation 'IGL01344:Psg27'
| ID |
74970 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psg27
|
| Ensembl Gene |
ENSMUSG00000070797 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 27 |
| Synonyms |
cea15, EG545925 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18290439-18301230 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18294342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 355
(D355G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094794]
|
| AlphaFold |
Q497W2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094794
AA Change: D355G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092388
Gene: ENSMUSG00000070797
AA Change: D355G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,923,139 (GRCm39) |
K237R |
possibly damaging |
Het |
| Antxrl |
A |
C |
14: 33,797,554 (GRCm39) |
M510L |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,214,588 (GRCm39) |
D417G |
probably benign |
Het |
| C3 |
T |
G |
17: 57,531,880 (GRCm39) |
N250T |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,575,629 (GRCm39) |
I1073K |
probably benign |
Het |
| Ccin |
A |
T |
4: 43,984,069 (GRCm39) |
N159Y |
probably damaging |
Het |
| Cep76 |
T |
C |
18: 67,756,467 (GRCm39) |
T455A |
possibly damaging |
Het |
| Chaf1a |
T |
A |
17: 56,371,104 (GRCm39) |
V663E |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,079,052 (GRCm39) |
F454S |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,110,345 (GRCm39) |
I86F |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,642,360 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
T |
2: 172,936,527 (GRCm39) |
A615E |
possibly damaging |
Het |
| Edaradd |
T |
C |
13: 12,493,371 (GRCm39) |
D107G |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,330,688 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,136,169 (GRCm39) |
|
probably null |
Het |
| Fahd2a |
T |
C |
2: 127,283,987 (GRCm39) |
K18E |
probably benign |
Het |
| Fbxl20 |
A |
T |
11: 97,990,926 (GRCm39) |
C147* |
probably null |
Het |
| Gsap |
G |
T |
5: 21,447,881 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
A |
T |
15: 85,746,267 (GRCm39) |
|
probably null |
Het |
| Kcp |
A |
T |
6: 29,498,950 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,742,019 (GRCm39) |
D687G |
probably benign |
Het |
| Mcpt8 |
T |
A |
14: 56,321,402 (GRCm39) |
I21F |
probably damaging |
Het |
| Met |
C |
A |
6: 17,547,031 (GRCm39) |
S888Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,503 (GRCm39) |
T663A |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,427,628 (GRCm39) |
T130A |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,058,297 (GRCm39) |
|
probably benign |
Het |
| Preb |
C |
T |
5: 31,113,388 (GRCm39) |
V349M |
probably damaging |
Het |
| Prmt1 |
G |
T |
7: 44,627,059 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,393,737 (GRCm39) |
D1209V |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,208,883 (GRCm39) |
T698I |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,080,958 (GRCm39) |
N925S |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,147,519 (GRCm39) |
M414K |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,049,560 (GRCm39) |
S787R |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,940,856 (GRCm39) |
I288N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,790,059 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
C |
T |
1: 44,022,422 (GRCm39) |
T940I |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,972,739 (GRCm39) |
I278N |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,215,238 (GRCm39) |
V1021I |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,582 (GRCm39) |
S1059P |
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 |
|
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 |
|
|
R0604:Psg27
|
UTSW |
7 |
18,290,997 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation