Incidental Mutation 'IGL01864:Psg19'
| ID |
178437 |
| 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 # |
IGL01864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18523492-18532445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18528077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 222
(Y222F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004657]
[ENSMUST00000182853]
|
| AlphaFold |
Q4KL31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004657
AA Change: Y222F
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000004657
Gene: ENSMUSG00000004542
AA Change: Y222F
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138621
Gene: ENSMUSG00000004542
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc40 |
A |
G |
11: 119,133,911 (GRCm39) |
N630S |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,842,541 (GRCm39) |
H529L |
possibly damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,717,237 (GRCm39) |
M1273T |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Helz |
C |
T |
11: 107,493,180 (GRCm39) |
S201L |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,564,007 (GRCm39) |
E4G |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,322,486 (GRCm39) |
T165A |
probably benign |
Het |
| Itgax |
T |
A |
7: 127,732,935 (GRCm39) |
D271E |
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,997,218 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,400 (GRCm39) |
N283K |
probably damaging |
Het |
| Or52ab2 |
T |
A |
7: 102,970,541 (GRCm39) |
F308I |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,729,100 (GRCm39) |
D762G |
probably benign |
Het |
| Rflna |
A |
G |
5: 125,087,511 (GRCm39) |
I83V |
possibly damaging |
Het |
| Suclg1 |
T |
C |
6: 73,241,280 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
G |
A |
4: 137,366,538 (GRCm39) |
E130K |
possibly damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,761,396 (GRCm39) |
T654S |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
|
IGL01996:Psg19
|
APN |
7 |
18,523,986 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
IGL02603:Psg19
|
APN |
7 |
18,526,693 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
2014-05-07 |
Incidental Mutation