Incidental Mutation 'IGL01649:Psg17'
| ID |
102756 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psg17
|
| Ensembl Gene |
ENSMUSG00000004540 |
| Gene Name |
pregnancy specific beta-1-glycoprotein 17 |
| Synonyms |
mmCGM5, Cea2, Cea-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01649
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18547862-18555516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18550727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 376
(V376A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004655]
|
| AlphaFold |
Q62056 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004655
AA Change: V376A
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000004655
Gene: ENSMUSG00000004540
AA Change: V376A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
IG
|
40 |
141 |
1.84e-2 |
SMART |
|
IG
|
160 |
261 |
3.63e0 |
SMART |
|
IG
|
280 |
381 |
2.03e-4 |
SMART |
|
IGc2
|
397 |
461 |
2.35e-9 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
G |
9: 46,217,116 (GRCm39) |
S220P |
probably benign |
Het |
| Adam18 |
T |
C |
8: 25,104,912 (GRCm39) |
N634S |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,491,211 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,911,541 (GRCm39) |
S1518G |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,617,226 (GRCm39) |
V341A |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,188,759 (GRCm39) |
V1721A |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,809,553 (GRCm39) |
I274F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,379,139 (GRCm39) |
L622Q |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,176,821 (GRCm39) |
D1960G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,015 (GRCm39) |
T503A |
possibly damaging |
Het |
| Glb1 |
A |
G |
9: 114,253,016 (GRCm39) |
Y73C |
probably damaging |
Het |
| Gm9396 |
G |
T |
3: 129,862,268 (GRCm39) |
|
noncoding transcript |
Het |
| Gml2 |
G |
T |
15: 74,696,070 (GRCm39) |
E155* |
probably null |
Het |
| Ikzf4 |
G |
A |
10: 128,471,689 (GRCm39) |
R323C |
probably damaging |
Het |
| Kiz |
A |
G |
2: 146,731,229 (GRCm39) |
T240A |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,477,351 (GRCm39) |
K480E |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,167,698 (GRCm39) |
H105R |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,221,870 (GRCm39) |
L1464P |
probably damaging |
Het |
| Mrgpra9 |
A |
C |
7: 46,884,900 (GRCm39) |
L256V |
probably benign |
Het |
| Mrpl40 |
T |
C |
16: 18,691,329 (GRCm39) |
Q127R |
probably benign |
Het |
| Myom2 |
G |
T |
8: 15,163,755 (GRCm39) |
R1003L |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,225,477 (GRCm39) |
T1806A |
probably damaging |
Het |
| Or10x4 |
T |
C |
1: 174,218,974 (GRCm39) |
L113P |
probably damaging |
Het |
| Pibf1 |
A |
T |
14: 99,425,199 (GRCm39) |
Y562F |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,044,921 (GRCm39) |
|
probably benign |
Het |
| Ppm1n |
A |
T |
7: 19,012,122 (GRCm39) |
|
probably benign |
Het |
| Septin8 |
T |
A |
11: 53,425,855 (GRCm39) |
F143I |
possibly damaging |
Het |
| Sestd1 |
A |
G |
2: 77,029,389 (GRCm39) |
Y330H |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,752,193 (GRCm39) |
|
probably benign |
Het |
| Stpg2 |
C |
A |
3: 139,125,623 (GRCm39) |
P472Q |
probably damaging |
Het |
| Thbs1 |
A |
G |
2: 117,945,463 (GRCm39) |
K314R |
probably benign |
Het |
| Vav3 |
T |
C |
3: 109,470,078 (GRCm39) |
Y508H |
probably benign |
Het |
|
| Other mutations in Psg17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Psg17
|
APN |
7 |
18,554,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02171:Psg17
|
APN |
7 |
18,552,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4151001:Psg17
|
UTSW |
7 |
18,548,530 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1178:Psg17
|
UTSW |
7 |
18,548,380 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1767:Psg17
|
UTSW |
7 |
18,550,727 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1991:Psg17
|
UTSW |
7 |
18,548,577 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4428:Psg17
|
UTSW |
7 |
18,550,717 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5285:Psg17
|
UTSW |
7 |
18,554,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5507:Psg17
|
UTSW |
7 |
18,553,851 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5516:Psg17
|
UTSW |
7 |
18,548,458 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5837:Psg17
|
UTSW |
7 |
18,554,140 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6481:Psg17
|
UTSW |
7 |
18,548,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Psg17
|
UTSW |
7 |
18,548,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Psg17
|
UTSW |
7 |
18,548,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Psg17
|
UTSW |
7 |
18,548,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Psg17
|
UTSW |
7 |
18,552,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Psg17
|
UTSW |
7 |
18,548,586 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7384:Psg17
|
UTSW |
7 |
18,552,585 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7544:Psg17
|
UTSW |
7 |
18,553,897 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7555:Psg17
|
UTSW |
7 |
18,551,019 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7634:Psg17
|
UTSW |
7 |
18,548,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Psg17
|
UTSW |
7 |
18,555,310 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8755:Psg17
|
UTSW |
7 |
18,550,836 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9105:Psg17
|
UTSW |
7 |
18,555,333 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9145:Psg17
|
UTSW |
7 |
18,553,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9296:Psg17
|
UTSW |
7 |
18,553,991 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1088:Psg17
|
UTSW |
7 |
18,550,835 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-01-21 |
Incidental Mutation