Incidental Mutation 'IGL01606:Psg28'
ID |
93421 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psg28
|
Ensembl Gene |
ENSMUSG00000030373 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 28 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
IGL01606
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
18156461-18165966 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 18164296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 139
(S139A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019291]
|
AlphaFold |
Q4KL66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019291
AA Change: S139A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000019291 Gene: ENSMUSG00000030373 AA Change: S139A
Domain | Start | End | E-Value | Type |
IG
|
40 |
138 |
1.84e-2 |
SMART |
IG
|
157 |
258 |
1.67e0 |
SMART |
IG
|
277 |
376 |
1.65e-4 |
SMART |
IGc2
|
394 |
458 |
8.31e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
A |
G |
17: 15,164,125 (GRCm39) |
D84G |
probably damaging |
Het |
Adat3 |
A |
T |
10: 80,443,172 (GRCm39) |
I337F |
probably damaging |
Het |
Carmil3 |
T |
A |
14: 55,731,306 (GRCm39) |
N128K |
possibly damaging |
Het |
Ceacam2 |
T |
C |
7: 25,230,132 (GRCm39) |
E158G |
possibly damaging |
Het |
Cel |
T |
C |
2: 28,450,576 (GRCm39) |
I150V |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,445,432 (GRCm39) |
H441R |
probably damaging |
Het |
Clic5 |
G |
T |
17: 44,559,633 (GRCm39) |
R109L |
probably benign |
Het |
Cpd |
T |
C |
11: 76,703,466 (GRCm39) |
M466V |
probably benign |
Het |
Cyp39a1 |
T |
A |
17: 44,057,509 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
C |
A |
12: 117,946,767 (GRCm39) |
A3106S |
probably benign |
Het |
Fasn |
A |
C |
11: 120,699,849 (GRCm39) |
|
probably null |
Het |
Fat1 |
G |
A |
8: 45,476,086 (GRCm39) |
V1688I |
probably benign |
Het |
Fibcd1 |
A |
G |
2: 31,723,865 (GRCm39) |
I258T |
probably benign |
Het |
Frem2 |
C |
A |
3: 53,561,012 (GRCm39) |
R1165I |
possibly damaging |
Het |
Gm5627 |
C |
T |
9: 102,626,685 (GRCm39) |
|
noncoding transcript |
Het |
Gm5862 |
T |
A |
5: 26,224,514 (GRCm39) |
T152S |
probably benign |
Het |
Gnb3 |
T |
A |
6: 124,814,218 (GRCm39) |
D154V |
probably damaging |
Het |
Ighv1-14 |
T |
C |
12: 114,610,457 (GRCm39) |
|
noncoding transcript |
Het |
Klrb1 |
C |
A |
6: 128,699,968 (GRCm39) |
E14D |
probably benign |
Het |
Osbpl1a |
A |
T |
18: 12,889,271 (GRCm39) |
D556E |
possibly damaging |
Het |
Pkd1 |
T |
C |
17: 24,795,497 (GRCm39) |
V2330A |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,701,901 (GRCm39) |
K1345R |
possibly damaging |
Het |
Plxna4 |
A |
G |
6: 32,134,936 (GRCm39) |
F1756L |
probably damaging |
Het |
Ptpru |
A |
T |
4: 131,535,792 (GRCm39) |
I395N |
possibly damaging |
Het |
Reps1 |
A |
G |
10: 17,983,435 (GRCm39) |
E426G |
probably damaging |
Het |
Rtp4 |
T |
A |
16: 23,432,004 (GRCm39) |
S179T |
probably benign |
Het |
Sh3pxd2a |
C |
A |
19: 47,257,035 (GRCm39) |
R561L |
probably benign |
Het |
Slc29a2 |
T |
A |
19: 5,077,467 (GRCm39) |
L215Q |
possibly damaging |
Het |
Slc44a4 |
T |
C |
17: 35,147,994 (GRCm39) |
F653L |
probably damaging |
Het |
Sulf1 |
G |
T |
1: 12,906,428 (GRCm39) |
R490L |
possibly damaging |
Het |
Ttll4 |
T |
C |
1: 74,725,052 (GRCm39) |
L602P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,607,134 (GRCm39) |
V17963A |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,557,347 (GRCm39) |
S1760P |
probably damaging |
Het |
Zmynd11 |
G |
A |
13: 9,747,724 (GRCm39) |
R149W |
probably damaging |
Het |
|
Other mutations in Psg28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00673:Psg28
|
APN |
7 |
18,161,816 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01118:Psg28
|
APN |
7 |
18,162,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Psg28
|
UTSW |
7 |
18,164,321 (GRCm39) |
missense |
probably benign |
0.00 |
R0391:Psg28
|
UTSW |
7 |
18,160,098 (GRCm39) |
missense |
probably benign |
0.02 |
R0713:Psg28
|
UTSW |
7 |
18,156,999 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1454:Psg28
|
UTSW |
7 |
18,161,889 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1725:Psg28
|
UTSW |
7 |
18,161,936 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2176:Psg28
|
UTSW |
7 |
18,161,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R3154:Psg28
|
UTSW |
7 |
18,160,348 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4520:Psg28
|
UTSW |
7 |
18,156,826 (GRCm39) |
missense |
probably benign |
0.00 |
R5010:Psg28
|
UTSW |
7 |
18,161,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R5529:Psg28
|
UTSW |
7 |
18,164,373 (GRCm39) |
missense |
probably benign |
0.15 |
R5772:Psg28
|
UTSW |
7 |
18,164,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R6039:Psg28
|
UTSW |
7 |
18,160,107 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6039:Psg28
|
UTSW |
7 |
18,160,107 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6046:Psg28
|
UTSW |
7 |
18,160,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R6275:Psg28
|
UTSW |
7 |
18,164,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R6586:Psg28
|
UTSW |
7 |
18,164,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R6928:Psg28
|
UTSW |
7 |
18,157,003 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7197:Psg28
|
UTSW |
7 |
18,164,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R7237:Psg28
|
UTSW |
7 |
18,161,769 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7859:Psg28
|
UTSW |
7 |
18,160,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R7863:Psg28
|
UTSW |
7 |
18,162,042 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7993:Psg28
|
UTSW |
7 |
18,160,401 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8009:Psg28
|
UTSW |
7 |
18,156,922 (GRCm39) |
missense |
probably damaging |
0.96 |
R8115:Psg28
|
UTSW |
7 |
18,164,311 (GRCm39) |
missense |
probably benign |
0.15 |
R8247:Psg28
|
UTSW |
7 |
18,156,864 (GRCm39) |
missense |
probably benign |
0.01 |
R8984:Psg28
|
UTSW |
7 |
18,156,981 (GRCm39) |
missense |
probably damaging |
0.97 |
R9160:Psg28
|
UTSW |
7 |
18,164,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R9266:Psg28
|
UTSW |
7 |
18,161,752 (GRCm39) |
missense |
probably benign |
0.01 |
R9336:Psg28
|
UTSW |
7 |
18,156,905 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9758:Psg28
|
UTSW |
7 |
18,164,602 (GRCm39) |
missense |
probably benign |
0.18 |
R9758:Psg28
|
UTSW |
7 |
18,156,887 (GRCm39) |
nonsense |
probably null |
|
R9782:Psg28
|
UTSW |
7 |
18,164,331 (GRCm39) |
missense |
probably benign |
0.00 |
RF016:Psg28
|
UTSW |
7 |
18,156,847 (GRCm39) |
missense |
probably damaging |
0.97 |
X0020:Psg28
|
UTSW |
7 |
18,161,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2013-12-09 |