Incidental Mutation 'IGL02603:Psg19'
ID |
300142 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psg19
|
Ensembl Gene |
ENSMUSG00000004542 |
Gene Name |
pregnancy specific beta-1-glycoprotein 19 |
Synonyms |
Cea-4, Cea4, CGM7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
IGL02603
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
18523492-18532445 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18526693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 146
(S146P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004657]
[ENSMUST00000182853]
|
AlphaFold |
Q4KL31 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004657
AA Change: S266P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000004657 Gene: ENSMUSG00000004542 AA Change: S266P
Domain | Start | End | E-Value | Type |
IG
|
40 |
141 |
9.2e-3 |
SMART |
IG
|
160 |
261 |
4.5e0 |
SMART |
IG
|
280 |
381 |
4.67e-4 |
SMART |
IGc2
|
397 |
461 |
1.58e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182681
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182853
AA Change: S146P
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138621 Gene: ENSMUSG00000004542 AA Change: S146P
Domain | Start | End | E-Value | Type |
IG
|
40 |
141 |
9.2e-3 |
SMART |
IG
|
160 |
261 |
4.67e-4 |
SMART |
IGc2
|
277 |
341 |
1.58e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207882
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,637,071 (GRCm39) |
S3457P |
possibly damaging |
Het |
Aipl1 |
A |
G |
11: 71,927,526 (GRCm39) |
I63T |
possibly damaging |
Het |
Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
Cdc20b |
T |
C |
13: 113,215,289 (GRCm39) |
S286P |
possibly damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,280,807 (GRCm39) |
R946H |
probably damaging |
Het |
Fam98c |
A |
G |
7: 28,853,873 (GRCm39) |
S232P |
probably damaging |
Het |
Glt1d1 |
G |
T |
5: 127,709,409 (GRCm39) |
R21L |
probably damaging |
Het |
Gm5422 |
A |
G |
10: 31,125,436 (GRCm39) |
|
noncoding transcript |
Het |
Haao |
T |
A |
17: 84,142,970 (GRCm39) |
D125V |
probably benign |
Het |
Hipk1 |
A |
G |
3: 103,657,588 (GRCm39) |
V832A |
probably damaging |
Het |
Lrrtm4 |
C |
A |
6: 79,999,967 (GRCm39) |
Q460K |
possibly damaging |
Het |
Lyar |
A |
G |
5: 38,391,405 (GRCm39) |
N368S |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Lztr1 |
C |
A |
16: 17,327,550 (GRCm39) |
N84K |
possibly damaging |
Het |
Ndufa8 |
C |
A |
2: 35,934,470 (GRCm39) |
C36F |
probably damaging |
Het |
Or11g24 |
T |
A |
14: 50,662,657 (GRCm39) |
V227E |
probably damaging |
Het |
Or2n1d |
T |
A |
17: 38,646,404 (GRCm39) |
S119T |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Spopfm3 |
A |
T |
3: 94,105,744 (GRCm39) |
T21S |
possibly damaging |
Het |
|
Other mutations in Psg19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01019:Psg19
|
APN |
7 |
18,527,971 (GRCm39) |
nonsense |
probably null |
|
IGL01864:Psg19
|
APN |
7 |
18,528,077 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01996:Psg19
|
APN |
7 |
18,523,986 (GRCm39) |
missense |
possibly damaging |
0.45 |
PIT4280001:Psg19
|
UTSW |
7 |
18,530,831 (GRCm39) |
missense |
probably damaging |
0.98 |
R0139:Psg19
|
UTSW |
7 |
18,530,942 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0894:Psg19
|
UTSW |
7 |
18,527,987 (GRCm39) |
missense |
probably benign |
0.14 |
R1394:Psg19
|
UTSW |
7 |
18,530,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R1911:Psg19
|
UTSW |
7 |
18,528,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R2116:Psg19
|
UTSW |
7 |
18,528,180 (GRCm39) |
missense |
probably damaging |
0.99 |
R2165:Psg19
|
UTSW |
7 |
18,530,911 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4791:Psg19
|
UTSW |
7 |
18,528,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R5093:Psg19
|
UTSW |
7 |
18,530,894 (GRCm39) |
missense |
probably benign |
0.00 |
R6290:Psg19
|
UTSW |
7 |
18,528,014 (GRCm39) |
missense |
probably benign |
0.00 |
R7255:Psg19
|
UTSW |
7 |
18,527,973 (GRCm39) |
missense |
probably benign |
0.17 |
R7718:Psg19
|
UTSW |
7 |
18,526,368 (GRCm39) |
missense |
probably benign |
0.05 |
R8676:Psg19
|
UTSW |
7 |
18,527,990 (GRCm39) |
missense |
probably benign |
|
R8751:Psg19
|
UTSW |
7 |
18,530,888 (GRCm39) |
missense |
probably benign |
0.27 |
R9022:Psg19
|
UTSW |
7 |
18,531,044 (GRCm39) |
missense |
probably benign |
0.44 |
R9022:Psg19
|
UTSW |
7 |
18,530,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |