Incidental Mutation 'IGL00898:Psg22'
| ID |
27757 |
| 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 # |
IGL00898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18452015-18461173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18458392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 322
(Y322C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051973]
[ENSMUST00000108481]
[ENSMUST00000208221]
|
| AlphaFold |
Q810J1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051973
AA Change: Y322C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050633
Gene: ENSMUSG00000044903
AA Change: Y322C
| 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 damaging
Transcript: ENSMUST00000108481
AA Change: Y361C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104121
Gene: ENSMUSG00000044903
AA Change: Y361C
| 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 damaging
Transcript: ENSMUST00000208221
AA Change: Y322C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,783,690 (GRCm39) |
G956S |
probably damaging |
Het |
| Alpk2 |
G |
T |
18: 65,483,644 (GRCm39) |
D121E |
probably benign |
Het |
| Apc |
A |
G |
18: 34,450,147 (GRCm39) |
T2314A |
probably damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,636,810 (GRCm39) |
L990P |
probably damaging |
Het |
| Ccar1 |
T |
A |
10: 62,589,013 (GRCm39) |
K823N |
unknown |
Het |
| Celsr2 |
C |
T |
3: 108,321,195 (GRCm39) |
R539H |
possibly damaging |
Het |
| Clca3b |
A |
G |
3: 144,550,389 (GRCm39) |
|
probably benign |
Het |
| Cpxcr1 |
T |
C |
X: 115,387,407 (GRCm39) |
L106S |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,607,755 (GRCm39) |
L16Q |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,098,941 (GRCm39) |
E808G |
probably damaging |
Het |
| Epha6 |
A |
T |
16: 59,595,904 (GRCm39) |
|
probably null |
Het |
| Epha7 |
G |
A |
4: 28,938,693 (GRCm39) |
R516Q |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,152,774 (GRCm39) |
S1077P |
probably benign |
Het |
| Gm4952 |
C |
T |
19: 12,595,772 (GRCm39) |
T54I |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Il1b |
T |
C |
2: 129,209,253 (GRCm39) |
R126G |
possibly damaging |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,021,191 (GRCm39) |
T923S |
possibly damaging |
Het |
| Lrp6 |
C |
T |
6: 134,456,702 (GRCm39) |
S854N |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,058,031 (GRCm39) |
F258L |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,306,159 (GRCm39) |
S91P |
probably benign |
Het |
| Msra |
A |
G |
14: 64,360,774 (GRCm39) |
I125T |
probably damaging |
Het |
| Nr0b1 |
A |
T |
X: 85,236,077 (GRCm39) |
Q224L |
probably benign |
Het |
| Nr2e1 |
T |
A |
10: 42,444,449 (GRCm39) |
D220V |
probably damaging |
Het |
| Nup160 |
C |
A |
2: 90,523,450 (GRCm39) |
H351Q |
probably damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,282 (GRCm39) |
M220L |
probably benign |
Het |
| Pcdh12 |
C |
A |
18: 38,414,510 (GRCm39) |
V872L |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,614,324 (GRCm39) |
S376C |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,631,001 (GRCm39) |
E475G |
probably damaging |
Het |
| Rgl2 |
T |
C |
17: 34,152,392 (GRCm39) |
I363T |
possibly damaging |
Het |
| Rimklb |
G |
T |
6: 122,433,590 (GRCm39) |
Q187K |
possibly damaging |
Het |
| Sectm1b |
A |
T |
11: 120,947,075 (GRCm39) |
W17R |
probably damaging |
Het |
| Snu13 |
C |
A |
15: 81,926,516 (GRCm39) |
A60S |
probably benign |
Het |
| Sox30 |
T |
A |
11: 45,882,727 (GRCm39) |
F586I |
possibly damaging |
Het |
| Tnfsfm13 |
C |
A |
11: 69,575,127 (GRCm39) |
V220L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,593,117 (GRCm39) |
V20711E |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,604,969 (GRCm39) |
N94S |
possibly damaging |
Het |
| Yipf2 |
T |
C |
9: 21,503,820 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,765,999 (GRCm39) |
S1509P |
probably benign |
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 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation