Incidental Mutation 'IGL02977:Psg22'
ID |
406415 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psg22
|
Ensembl Gene |
ENSMUSG00000044903 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 22 |
Synonyms |
cea9 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL02977
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
18452015-18461173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18453524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 112
(D112G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051973]
[ENSMUST00000108481]
[ENSMUST00000208221]
|
AlphaFold |
Q810J1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051973
AA Change: D73G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000050633 Gene: ENSMUSG00000044903 AA Change: D73G
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
IG
|
40 |
141 |
7.59e-4 |
SMART |
IG
|
160 |
261 |
1.13e-2 |
SMART |
IG
|
280 |
381 |
3.74e-3 |
SMART |
IGc2
|
397 |
461 |
7.35e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108481
AA Change: D112G
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000104121 Gene: ENSMUSG00000044903 AA Change: D112G
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
IG
|
79 |
180 |
7.59e-4 |
SMART |
IG
|
199 |
300 |
1.13e-2 |
SMART |
IG
|
319 |
420 |
3.74e-3 |
SMART |
IGc2
|
436 |
500 |
7.35e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208221
AA Change: D73G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
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 |
2810004N23Rik |
C |
T |
8: 125,587,930 (GRCm39) |
V57M |
probably benign |
Het |
4933440M02Rik |
T |
A |
7: 124,930,874 (GRCm39) |
|
noncoding transcript |
Het |
Bmp5 |
A |
G |
9: 75,801,081 (GRCm39) |
T404A |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,985,976 (GRCm39) |
V1660A |
probably damaging |
Het |
Csmd2 |
C |
A |
4: 128,387,069 (GRCm39) |
Y2121* |
probably null |
Het |
Daam1 |
G |
A |
12: 71,990,946 (GRCm39) |
A187T |
unknown |
Het |
Dnaja4 |
T |
C |
9: 54,621,794 (GRCm39) |
L343P |
possibly damaging |
Het |
Dym |
T |
C |
18: 75,196,246 (GRCm39) |
|
probably null |
Het |
F5 |
A |
T |
1: 164,021,590 (GRCm39) |
D1355V |
probably damaging |
Het |
Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
Gcnt1 |
A |
T |
19: 17,306,738 (GRCm39) |
I329N |
probably damaging |
Het |
Gm10110 |
T |
C |
14: 90,134,768 (GRCm39) |
|
noncoding transcript |
Het |
Hdgfl2 |
A |
G |
17: 56,406,319 (GRCm39) |
N569S |
possibly damaging |
Het |
Hivep1 |
T |
C |
13: 42,309,412 (GRCm39) |
S551P |
possibly damaging |
Het |
Hpse2 |
G |
A |
19: 42,777,561 (GRCm39) |
|
probably benign |
Het |
Hspe1 |
T |
C |
1: 55,130,232 (GRCm39) |
Y88H |
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,445,016 (GRCm39) |
M312K |
probably benign |
Het |
Lrp1b |
T |
G |
2: 40,620,747 (GRCm39) |
D3577A |
probably damaging |
Het |
Mapk13 |
G |
T |
17: 28,995,322 (GRCm39) |
G181V |
probably damaging |
Het |
Oprl1 |
G |
T |
2: 181,360,304 (GRCm39) |
C115F |
probably damaging |
Het |
Or4d1 |
A |
G |
11: 87,804,956 (GRCm39) |
S259P |
possibly damaging |
Het |
Or5d37 |
T |
C |
2: 87,923,915 (GRCm39) |
I122V |
probably benign |
Het |
Rp1l1 |
T |
A |
14: 64,265,599 (GRCm39) |
I395N |
probably benign |
Het |
Simc1 |
T |
C |
13: 54,674,120 (GRCm39) |
S823P |
probably benign |
Het |
Slc9b1 |
T |
C |
3: 135,103,484 (GRCm39) |
L538P |
probably damaging |
Het |
Smad2 |
T |
A |
18: 76,422,235 (GRCm39) |
Y216N |
possibly damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tonsl |
T |
A |
15: 76,517,073 (GRCm39) |
Q882L |
probably benign |
Het |
Trav13-2 |
C |
T |
14: 53,872,764 (GRCm39) |
T80I |
probably damaging |
Het |
Uaca |
C |
T |
9: 60,773,662 (GRCm39) |
P388S |
probably benign |
Het |
Vmn2r116 |
A |
G |
17: 23,607,748 (GRCm39) |
R439G |
possibly damaging |
Het |
Vmn2r18 |
C |
A |
5: 151,510,149 (GRCm39) |
A75S |
probably damaging |
Het |
|
Other mutations in Psg22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00797:Psg22
|
APN |
7 |
18,452,200 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00839:Psg22
|
APN |
7 |
18,456,893 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00898:Psg22
|
APN |
7 |
18,458,392 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02262:Psg22
|
APN |
7 |
18,458,496 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02678:Psg22
|
APN |
7 |
18,453,418 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02749:Psg22
|
APN |
7 |
18,456,944 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02928:Psg22
|
APN |
7 |
18,453,458 (GRCm39) |
missense |
probably damaging |
0.98 |
R0470:Psg22
|
UTSW |
7 |
18,453,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R1902:Psg22
|
UTSW |
7 |
18,458,363 (GRCm39) |
nonsense |
probably null |
|
R1935:Psg22
|
UTSW |
7 |
18,453,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R1936:Psg22
|
UTSW |
7 |
18,453,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R2013:Psg22
|
UTSW |
7 |
18,453,560 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2278:Psg22
|
UTSW |
7 |
18,460,762 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4258:Psg22
|
UTSW |
7 |
18,458,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5029:Psg22
|
UTSW |
7 |
18,453,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R5885:Psg22
|
UTSW |
7 |
18,452,257 (GRCm39) |
missense |
probably damaging |
0.98 |
R6084:Psg22
|
UTSW |
7 |
18,453,705 (GRCm39) |
missense |
probably benign |
0.01 |
R6143:Psg22
|
UTSW |
7 |
18,456,723 (GRCm39) |
missense |
probably benign |
0.03 |
R6209:Psg22
|
UTSW |
7 |
18,453,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R7017:Psg22
|
UTSW |
7 |
18,458,366 (GRCm39) |
missense |
probably benign |
0.01 |
R7337:Psg22
|
UTSW |
7 |
18,453,499 (GRCm39) |
missense |
probably benign |
0.20 |
R7417:Psg22
|
UTSW |
7 |
18,456,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R7460:Psg22
|
UTSW |
7 |
18,458,329 (GRCm39) |
missense |
probably benign |
0.03 |
R7570:Psg22
|
UTSW |
7 |
18,456,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7650:Psg22
|
UTSW |
7 |
18,460,684 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7711:Psg22
|
UTSW |
7 |
18,452,267 (GRCm39) |
critical splice donor site |
probably null |
|
R7991:Psg22
|
UTSW |
7 |
18,460,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R8001:Psg22
|
UTSW |
7 |
18,453,671 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8003:Psg22
|
UTSW |
7 |
18,458,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R8066:Psg22
|
UTSW |
7 |
18,452,218 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8113:Psg22
|
UTSW |
7 |
18,456,987 (GRCm39) |
missense |
probably benign |
0.00 |
R9136:Psg22
|
UTSW |
7 |
18,460,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Psg22
|
UTSW |
7 |
18,460,682 (GRCm39) |
missense |
probably benign |
0.09 |
R9152:Psg22
|
UTSW |
7 |
18,460,646 (GRCm39) |
missense |
probably damaging |
0.97 |
R9344:Psg22
|
UTSW |
7 |
18,460,816 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9666:Psg22
|
UTSW |
7 |
18,458,248 (GRCm39) |
missense |
probably benign |
|
R9801:Psg22
|
UTSW |
7 |
18,456,899 (GRCm39) |
missense |
probably benign |
0.11 |
X0064:Psg22
|
UTSW |
7 |
18,452,106 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Psg22
|
UTSW |
7 |
18,453,602 (GRCm39) |
missense |
probably benign |
0.19 |
|
Posted On |
2016-08-02 |