Incidental Mutation 'IGL03080:Psg23'
| ID |
417806 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psg23
|
| Ensembl Gene |
ENSMUSG00000074359 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 23 |
| Synonyms |
1620401C02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18340268-18350426 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18340910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 448
(Y448F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057810]
|
| AlphaFold |
Q9D2U0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057810
AA Change: Y448F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056586
Gene: ENSMUSG00000074359
AA Change: Y448F
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
39 |
138 |
2.03e-4 |
SMART |
|
IG
|
159 |
260 |
4.16e-1 |
SMART |
|
IG
|
276 |
375 |
1.25e-4 |
SMART |
|
IGc2
|
393 |
457 |
4.7e-9 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for this spontaneous mutation display no phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
T |
C |
8: 80,429,630 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,401,827 (GRCm39) |
M734V |
probably benign |
Het |
| Aqp8 |
T |
G |
7: 123,065,802 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,632,500 (GRCm39) |
D508G |
probably damaging |
Het |
| Cyp11b1 |
A |
T |
15: 74,711,285 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,937,980 (GRCm39) |
D1619G |
probably benign |
Het |
| Eif1ad17 |
A |
T |
12: 87,978,615 (GRCm39) |
|
probably benign |
Het |
| Ephb4 |
T |
A |
5: 137,352,345 (GRCm39) |
|
probably benign |
Het |
| Ffar3 |
A |
T |
7: 30,554,747 (GRCm39) |
V191E |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,402,574 (GRCm39) |
D310E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,563 (GRCm39) |
Y342C |
probably benign |
Het |
| Jade1 |
T |
A |
3: 41,554,510 (GRCm39) |
C251* |
probably null |
Het |
| Jhy |
T |
C |
9: 40,855,653 (GRCm39) |
E278G |
probably damaging |
Het |
| Kif24 |
A |
C |
4: 41,394,417 (GRCm39) |
S819A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,996 (GRCm39) |
L344P |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,810,153 (GRCm39) |
T375A |
probably benign |
Het |
| Mbd3 |
C |
T |
10: 80,229,085 (GRCm39) |
R204Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,663 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nkiras2 |
T |
C |
11: 100,515,105 (GRCm39) |
|
probably null |
Het |
| Or7e174 |
A |
T |
9: 20,012,705 (GRCm39) |
I217F |
probably damaging |
Het |
| Palm |
C |
A |
10: 79,654,951 (GRCm39) |
H74Q |
probably damaging |
Het |
| Pros1 |
T |
A |
16: 62,738,506 (GRCm39) |
N408K |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,312,613 (GRCm39) |
P1111Q |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,399,299 (GRCm39) |
S1115G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,528,160 (GRCm39) |
T777A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,816 (GRCm39) |
D428G |
probably damaging |
Het |
| Stard3nl |
A |
T |
13: 19,554,648 (GRCm39) |
|
probably null |
Het |
| Sult1d1 |
T |
C |
5: 87,704,847 (GRCm39) |
D214G |
probably benign |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,398,044 (GRCm39) |
Y44C |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,725,136 (GRCm39) |
N154D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,363,021 (GRCm39) |
S444R |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,295,896 (GRCm39) |
Y108H |
probably damaging |
Het |
| Vmn2r44 |
C |
A |
7: 8,386,244 (GRCm39) |
|
probably benign |
Het |
| Zfand1 |
A |
G |
3: 10,405,797 (GRCm39) |
*269Q |
probably null |
Het |
| Zfp142 |
A |
T |
1: 74,610,368 (GRCm39) |
D1039E |
probably benign |
Het |
| Zkscan5 |
G |
T |
5: 145,155,460 (GRCm39) |
S377I |
probably damaging |
Het |
|
| Other mutations in Psg23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00814:Psg23
|
APN |
7 |
18,348,608 (GRCm39) |
nonsense |
probably null |
|
|
IGL01309:Psg23
|
APN |
7 |
18,348,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01736:Psg23
|
APN |
7 |
18,346,122 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02142:Psg23
|
APN |
7 |
18,344,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02728:Psg23
|
APN |
7 |
18,340,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03130:Psg23
|
APN |
7 |
18,344,341 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0113:Psg23
|
UTSW |
7 |
18,345,927 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0137:Psg23
|
UTSW |
7 |
18,348,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0544:Psg23
|
UTSW |
7 |
18,348,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1368:Psg23
|
UTSW |
7 |
18,348,645 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1840:Psg23
|
UTSW |
7 |
18,344,363 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1869:Psg23
|
UTSW |
7 |
18,348,543 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1875:Psg23
|
UTSW |
7 |
18,344,375 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2041:Psg23
|
UTSW |
7 |
18,348,703 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2096:Psg23
|
UTSW |
7 |
18,348,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Psg23
|
UTSW |
7 |
18,344,369 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3112:Psg23
|
UTSW |
7 |
18,344,369 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3790:Psg23
|
UTSW |
7 |
18,346,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3892:Psg23
|
UTSW |
7 |
18,345,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Psg23
|
UTSW |
7 |
18,341,043 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4200:Psg23
|
UTSW |
7 |
18,345,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Psg23
|
UTSW |
7 |
18,346,039 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5337:Psg23
|
UTSW |
7 |
18,345,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6016:Psg23
|
UTSW |
7 |
18,346,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6951:Psg23
|
UTSW |
7 |
18,348,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7033:Psg23
|
UTSW |
7 |
18,348,669 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7212:Psg23
|
UTSW |
7 |
18,341,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7427:Psg23
|
UTSW |
7 |
18,345,908 (GRCm39) |
splice site |
probably null |
|
|
R7527:Psg23
|
UTSW |
7 |
18,348,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Psg23
|
UTSW |
7 |
18,340,839 (GRCm39) |
makesense |
probably null |
|
|
R7864:Psg23
|
UTSW |
7 |
18,344,435 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7897:Psg23
|
UTSW |
7 |
18,341,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8155:Psg23
|
UTSW |
7 |
18,346,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:Psg23
|
UTSW |
7 |
18,348,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9032:Psg23
|
UTSW |
7 |
18,348,660 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9085:Psg23
|
UTSW |
7 |
18,348,660 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9365:Psg23
|
UTSW |
7 |
18,344,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Psg23
|
UTSW |
7 |
18,346,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9688:Psg23
|
UTSW |
7 |
18,344,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation