Incidental Mutation 'IGL03130:Psg23'
ID |
410276 |
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 # |
IGL03130
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
18340268-18350426 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 18344341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 371
(H371Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056586
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057810]
|
AlphaFold |
Q9D2U0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057810
AA Change: H371Q
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000056586 Gene: ENSMUSG00000074359 AA Change: H371Q
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
G |
T |
10: 85,224,347 (GRCm39) |
|
probably null |
Het |
Agtpbp1 |
T |
C |
13: 59,622,403 (GRCm39) |
E941G |
possibly damaging |
Het |
Akap11 |
A |
T |
14: 78,747,808 (GRCm39) |
Y1526* |
probably null |
Het |
Brd1 |
T |
C |
15: 88,572,577 (GRCm39) |
I1165V |
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,558,393 (GRCm39) |
D473G |
possibly damaging |
Het |
Clstn3 |
G |
A |
6: 124,436,222 (GRCm39) |
L176F |
probably damaging |
Het |
Ctif |
T |
C |
18: 75,654,689 (GRCm39) |
N279S |
probably benign |
Het |
Dpy19l3 |
A |
G |
7: 35,452,097 (GRCm39) |
S16P |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,800,288 (GRCm39) |
C1806S |
probably benign |
Het |
Fam151b |
T |
C |
13: 92,586,701 (GRCm39) |
Y244C |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,255,787 (GRCm39) |
M750T |
possibly damaging |
Het |
Gm11564 |
T |
A |
11: 99,705,879 (GRCm39) |
T184S |
unknown |
Het |
Gnptab |
A |
G |
10: 88,272,233 (GRCm39) |
K958E |
possibly damaging |
Het |
Hibch |
T |
C |
1: 52,924,310 (GRCm39) |
S162P |
possibly damaging |
Het |
Itpr1 |
T |
C |
6: 108,500,362 (GRCm39) |
S2651P |
probably benign |
Het |
LTO1 |
A |
G |
7: 144,470,197 (GRCm39) |
E42G |
probably damaging |
Het |
Lyrm1 |
A |
G |
7: 119,513,403 (GRCm39) |
D56G |
probably damaging |
Het |
Manba |
T |
C |
3: 135,256,920 (GRCm39) |
Y528H |
probably damaging |
Het |
Npas2 |
A |
C |
1: 39,352,109 (GRCm39) |
E186D |
probably damaging |
Het |
Or4f61 |
A |
T |
2: 111,922,166 (GRCm39) |
D293E |
probably benign |
Het |
Or7c19 |
A |
T |
8: 85,957,258 (GRCm39) |
I45F |
possibly damaging |
Het |
Or7d11 |
C |
A |
9: 19,966,668 (GRCm39) |
L30F |
probably benign |
Het |
Pcdhb6 |
T |
A |
18: 37,468,640 (GRCm39) |
Y520* |
probably null |
Het |
Plekhm1 |
C |
T |
11: 103,268,207 (GRCm39) |
R588H |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,207,610 (GRCm39) |
|
probably benign |
Het |
Rela |
T |
C |
19: 5,689,909 (GRCm39) |
C120R |
probably damaging |
Het |
Rps6kc1 |
T |
A |
1: 190,532,008 (GRCm39) |
I665F |
probably damaging |
Het |
Spg21 |
A |
G |
9: 65,380,990 (GRCm39) |
Q99R |
probably benign |
Het |
St14 |
A |
G |
9: 31,008,367 (GRCm39) |
|
probably null |
Het |
Sult1c2 |
A |
T |
17: 54,137,099 (GRCm39) |
N274K |
probably benign |
Het |
Syk |
T |
C |
13: 52,776,768 (GRCm39) |
V256A |
probably benign |
Het |
Tcte1 |
A |
G |
17: 45,844,222 (GRCm39) |
D66G |
probably damaging |
Het |
Tgm4 |
C |
T |
9: 122,885,580 (GRCm39) |
T374M |
probably damaging |
Het |
Tns4 |
T |
C |
11: 98,959,095 (GRCm39) |
H668R |
probably damaging |
Het |
Tsn |
C |
T |
1: 118,232,999 (GRCm39) |
A102T |
possibly damaging |
Het |
Uvssa |
T |
A |
5: 33,549,189 (GRCm39) |
S350T |
possibly damaging |
Het |
Vmn1r3 |
T |
A |
4: 3,185,214 (GRCm39) |
Y31F |
possibly damaging |
Het |
Vmn2r114 |
A |
T |
17: 23,515,970 (GRCm39) |
|
probably benign |
Het |
Vmn2r27 |
T |
C |
6: 124,169,276 (GRCm39) |
D618G |
possibly damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,330,373 (GRCm39) |
|
probably benign |
Het |
Vti1a |
T |
C |
19: 55,380,279 (GRCm39) |
Y143H |
probably damaging |
Het |
Zfand4 |
T |
A |
6: 116,250,620 (GRCm39) |
Y17N |
probably damaging |
Het |
Zfp729a |
T |
C |
13: 67,767,761 (GRCm39) |
|
probably null |
Het |
Zfp827 |
A |
G |
8: 79,787,586 (GRCm39) |
T251A |
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 |
IGL03080:Psg23
|
APN |
7 |
18,340,910 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |