Incidental Mutation 'IGL02749:Psg22'
ID |
306177 |
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: 0.055)
|
Stock # |
IGL02749
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
18452015-18461173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 18456944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 237
(T237S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051973]
[ENSMUST00000108481]
[ENSMUST00000208221]
|
AlphaFold |
Q810J1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051973
AA Change: T237S
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000050633 Gene: ENSMUSG00000044903 AA Change: T237S
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: T276S
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000104121 Gene: ENSMUSG00000044903 AA Change: T276S
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 |
possibly damaging
Transcript: ENSMUST00000208221
AA Change: T237S
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230104M06Rik |
T |
C |
12: 112,963,795 (GRCm39) |
D61G |
probably benign |
Het |
Albfm1 |
T |
C |
5: 90,719,624 (GRCm39) |
V240A |
possibly damaging |
Het |
Ascc2 |
G |
A |
11: 4,590,481 (GRCm39) |
|
probably null |
Het |
Atrn |
C |
T |
2: 130,812,064 (GRCm39) |
Q670* |
probably null |
Het |
Atrn |
G |
T |
2: 130,789,654 (GRCm39) |
|
probably benign |
Het |
Calr |
A |
C |
8: 85,571,117 (GRCm39) |
W236G |
probably damaging |
Het |
Camk2g |
T |
A |
14: 20,816,084 (GRCm39) |
|
probably null |
Het |
Cd101 |
G |
T |
3: 100,927,715 (GRCm39) |
T122K |
probably damaging |
Het |
Cert1 |
T |
A |
13: 96,765,643 (GRCm39) |
N469K |
possibly damaging |
Het |
Cryl1 |
T |
C |
14: 57,541,181 (GRCm39) |
T168A |
probably benign |
Het |
Diaph3 |
A |
G |
14: 87,156,261 (GRCm39) |
I684T |
probably damaging |
Het |
Ednrb |
A |
T |
14: 104,060,495 (GRCm39) |
M266K |
possibly damaging |
Het |
Eif4h |
T |
C |
5: 134,668,146 (GRCm39) |
D3G |
probably damaging |
Het |
Eny2 |
C |
T |
15: 44,293,031 (GRCm39) |
R28C |
possibly damaging |
Het |
Epsti1 |
A |
G |
14: 78,177,363 (GRCm39) |
E181G |
probably damaging |
Het |
Ezh2 |
A |
G |
6: 47,510,698 (GRCm39) |
F598S |
probably damaging |
Het |
Fat3 |
G |
T |
9: 15,918,007 (GRCm39) |
T1472K |
possibly damaging |
Het |
Gabra4 |
T |
A |
5: 71,795,490 (GRCm39) |
I262F |
probably benign |
Het |
Gpat4 |
A |
T |
8: 23,670,886 (GRCm39) |
Y109N |
probably damaging |
Het |
Gpsm1 |
C |
T |
2: 26,229,687 (GRCm39) |
T36I |
probably damaging |
Het |
Hikeshi |
C |
T |
7: 89,585,097 (GRCm39) |
V36I |
possibly damaging |
Het |
Hip1 |
T |
C |
5: 135,473,605 (GRCm39) |
M238V |
probably benign |
Het |
Hnrnpll |
A |
T |
17: 80,369,420 (GRCm39) |
M1K |
probably null |
Het |
Irx2 |
G |
A |
13: 72,779,429 (GRCm39) |
D238N |
probably damaging |
Het |
Kcnip4 |
T |
A |
5: 48,567,127 (GRCm39) |
|
probably benign |
Het |
Lair1 |
G |
A |
7: 4,031,900 (GRCm39) |
T69I |
possibly damaging |
Het |
Lamc1 |
A |
G |
1: 153,125,599 (GRCm39) |
I558T |
possibly damaging |
Het |
Map4k5 |
C |
T |
12: 69,862,580 (GRCm39) |
E639K |
probably benign |
Het |
Mc4r |
A |
G |
18: 66,992,733 (GRCm39) |
S127P |
probably damaging |
Het |
Mmp23 |
A |
G |
4: 155,735,989 (GRCm39) |
M221T |
possibly damaging |
Het |
Mre11a |
T |
C |
9: 14,737,887 (GRCm39) |
S587P |
possibly damaging |
Het |
Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
Nek9 |
C |
A |
12: 85,352,281 (GRCm39) |
A861S |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,163,560 (GRCm39) |
Y576N |
probably damaging |
Het |
Or5w10 |
C |
T |
2: 87,375,001 (GRCm39) |
V296M |
probably damaging |
Het |
Pcca |
A |
T |
14: 122,771,800 (GRCm39) |
T8S |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,466,900 (GRCm39) |
D1573G |
probably benign |
Het |
Pdpr |
T |
A |
8: 111,844,722 (GRCm39) |
V373E |
probably benign |
Het |
Pdzph1 |
A |
T |
17: 59,239,478 (GRCm39) |
L950Q |
possibly damaging |
Het |
Pira13 |
A |
G |
7: 3,825,624 (GRCm39) |
I415T |
probably damaging |
Het |
Prss35 |
A |
C |
9: 86,638,297 (GRCm39) |
K356Q |
probably damaging |
Het |
Rdh13 |
A |
G |
7: 4,430,703 (GRCm39) |
Y252H |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,613,112 (GRCm39) |
|
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,493 (GRCm39) |
V207I |
probably benign |
Het |
Sparcl1 |
T |
G |
5: 104,240,746 (GRCm39) |
E226A |
possibly damaging |
Het |
Srms |
C |
A |
2: 180,851,302 (GRCm39) |
A155S |
possibly damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,917 (GRCm39) |
I44N |
probably damaging |
Het |
Tmem236 |
C |
T |
2: 14,224,132 (GRCm39) |
T307M |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,679,155 (GRCm39) |
P4788S |
probably damaging |
Het |
Vmn1r170 |
A |
T |
7: 23,305,716 (GRCm39) |
L39F |
probably benign |
Het |
Vmn2r90 |
T |
A |
17: 17,947,122 (GRCm39) |
*121R |
probably null |
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 |
IGL02928:Psg22
|
APN |
7 |
18,453,458 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02977:Psg22
|
APN |
7 |
18,453,524 (GRCm39) |
missense |
probably benign |
0.20 |
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 |
2015-04-16 |