Incidental Mutation 'IGL02546:Psg29'
ID |
297847 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psg29
|
Ensembl Gene |
ENSMUSG00000023159 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 29 |
Synonyms |
cea17 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL02546
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
16937402-16949681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16942707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 236
(Y236C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075934]
|
AlphaFold |
Q3URN6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075934
AA Change: Y236C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075320 Gene: ENSMUSG00000023159 AA Change: Y236C
Domain | Start | End | E-Value | Type |
IG
|
40 |
137 |
7.77e-1 |
SMART |
IG
|
156 |
257 |
8.72e-4 |
SMART |
IG
|
276 |
377 |
2.44e0 |
SMART |
IGc2
|
393 |
457 |
3.06e-8 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
G |
T |
12: 52,927,521 (GRCm39) |
V144L |
probably damaging |
Het |
Carmil1 |
A |
T |
13: 24,299,482 (GRCm39) |
N347K |
probably damaging |
Het |
Cyp4a32 |
A |
G |
4: 115,468,520 (GRCm39) |
Y334C |
probably damaging |
Het |
Dmxl2 |
C |
A |
9: 54,273,698 (GRCm39) |
|
probably benign |
Het |
Eps8 |
C |
T |
6: 137,456,064 (GRCm39) |
A806T |
probably benign |
Het |
Evl |
A |
G |
12: 108,614,678 (GRCm39) |
N24S |
possibly damaging |
Het |
Fbxo15 |
T |
C |
18: 84,980,847 (GRCm39) |
|
probably null |
Het |
Gm14179 |
A |
T |
11: 99,634,019 (GRCm39) |
|
|
Het |
Hepacam2 |
A |
G |
6: 3,483,568 (GRCm39) |
V147A |
possibly damaging |
Het |
Jmjd1c |
C |
A |
10: 67,061,115 (GRCm39) |
P1156Q |
possibly damaging |
Het |
Mab21l3 |
A |
T |
3: 101,730,624 (GRCm39) |
V205E |
probably damaging |
Het |
Mad2l1 |
T |
C |
6: 66,512,951 (GRCm39) |
I28T |
probably damaging |
Het |
Minar2 |
T |
A |
18: 59,205,347 (GRCm39) |
M45K |
probably damaging |
Het |
Mroh9 |
T |
A |
1: 162,908,145 (GRCm39) |
I2F |
probably benign |
Het |
Msr1 |
A |
T |
8: 40,068,788 (GRCm39) |
I302K |
probably benign |
Het |
Msrb3 |
C |
T |
10: 120,685,906 (GRCm39) |
V80I |
possibly damaging |
Het |
Ncf4 |
A |
G |
15: 78,145,219 (GRCm39) |
D269G |
probably damaging |
Het |
Nsl1 |
T |
A |
1: 190,803,398 (GRCm39) |
H156Q |
probably benign |
Het |
Nutm1 |
T |
C |
2: 112,078,669 (GRCm39) |
D1082G |
probably benign |
Het |
Or6c216 |
T |
A |
10: 129,678,416 (GRCm39) |
D165V |
probably damaging |
Het |
Or7g20 |
T |
A |
9: 18,946,650 (GRCm39) |
V77D |
possibly damaging |
Het |
Orc4 |
T |
C |
2: 48,807,296 (GRCm39) |
I212V |
probably null |
Het |
Pde6c |
A |
G |
19: 38,128,488 (GRCm39) |
I184V |
probably benign |
Het |
Pfkfb3 |
A |
T |
2: 11,493,589 (GRCm39) |
F129Y |
probably damaging |
Het |
Ppp3cb |
T |
C |
14: 20,551,622 (GRCm39) |
D493G |
probably benign |
Het |
Pzp |
C |
T |
6: 128,471,662 (GRCm39) |
|
probably benign |
Het |
Semp2l2b |
A |
T |
10: 21,942,826 (GRCm39) |
W385R |
probably damaging |
Het |
Sgf29 |
T |
A |
7: 126,271,025 (GRCm39) |
V180E |
probably damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,071,266 (GRCm39) |
|
probably benign |
Het |
Slc39a2 |
A |
T |
14: 52,132,620 (GRCm39) |
T188S |
probably benign |
Het |
Slc6a13 |
G |
T |
6: 121,310,323 (GRCm39) |
M327I |
probably benign |
Het |
Slitrk6 |
T |
A |
14: 110,987,226 (GRCm39) |
H827L |
probably benign |
Het |
Thumpd2 |
T |
G |
17: 81,361,884 (GRCm39) |
K114T |
probably benign |
Het |
Tnfrsf19 |
A |
T |
14: 61,210,987 (GRCm39) |
C234S |
possibly damaging |
Het |
Tns2 |
A |
G |
15: 102,019,375 (GRCm39) |
D446G |
probably damaging |
Het |
Tpm4 |
A |
G |
8: 72,898,547 (GRCm39) |
E137G |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,625,901 (GRCm39) |
R13307C |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,791,725 (GRCm39) |
S122P |
probably benign |
Het |
Ubr5 |
T |
C |
15: 38,008,991 (GRCm39) |
D1080G |
probably benign |
Het |
Ulk4 |
A |
T |
9: 120,981,373 (GRCm39) |
L886* |
probably null |
Het |
Unc80 |
T |
C |
1: 66,594,112 (GRCm39) |
S1164P |
possibly damaging |
Het |
Uspl1 |
T |
C |
5: 149,141,114 (GRCm39) |
V371A |
possibly damaging |
Het |
Virma |
T |
C |
4: 11,494,804 (GRCm39) |
V35A |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp787 |
A |
T |
7: 6,135,297 (GRCm39) |
I318N |
probably damaging |
Het |
|
Other mutations in Psg29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Psg29
|
APN |
7 |
16,942,657 (GRCm39) |
missense |
probably benign |
0.42 |
IGL01107:Psg29
|
APN |
7 |
16,938,850 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01348:Psg29
|
APN |
7 |
16,944,598 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01353:Psg29
|
APN |
7 |
16,938,938 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02611:Psg29
|
APN |
7 |
16,942,716 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02982:Psg29
|
APN |
7 |
16,945,632 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03072:Psg29
|
APN |
7 |
16,942,719 (GRCm39) |
missense |
probably benign |
0.06 |
macular
|
UTSW |
7 |
16,944,460 (GRCm39) |
missense |
probably benign |
0.23 |
papular
|
UTSW |
7 |
16,945,837 (GRCm39) |
makesense |
probably null |
|
R1744:Psg29
|
UTSW |
7 |
16,944,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R2272:Psg29
|
UTSW |
7 |
16,944,621 (GRCm39) |
missense |
probably benign |
0.19 |
R3054:Psg29
|
UTSW |
7 |
16,942,727 (GRCm39) |
missense |
probably benign |
0.29 |
R3790:Psg29
|
UTSW |
7 |
16,938,950 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3963:Psg29
|
UTSW |
7 |
16,942,510 (GRCm39) |
missense |
probably benign |
0.01 |
R4464:Psg29
|
UTSW |
7 |
16,944,575 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4740:Psg29
|
UTSW |
7 |
16,942,458 (GRCm39) |
missense |
probably benign |
0.00 |
R4774:Psg29
|
UTSW |
7 |
16,944,460 (GRCm39) |
missense |
probably benign |
0.23 |
R4902:Psg29
|
UTSW |
7 |
16,945,837 (GRCm39) |
makesense |
probably null |
|
R4977:Psg29
|
UTSW |
7 |
16,942,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R5071:Psg29
|
UTSW |
7 |
16,945,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R5072:Psg29
|
UTSW |
7 |
16,945,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R5074:Psg29
|
UTSW |
7 |
16,945,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R5169:Psg29
|
UTSW |
7 |
16,945,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R5415:Psg29
|
UTSW |
7 |
16,945,561 (GRCm39) |
splice site |
probably null |
|
R5729:Psg29
|
UTSW |
7 |
16,944,459 (GRCm39) |
missense |
probably damaging |
0.98 |
R6023:Psg29
|
UTSW |
7 |
16,944,437 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6127:Psg29
|
UTSW |
7 |
16,945,671 (GRCm39) |
missense |
probably benign |
0.00 |
R6900:Psg29
|
UTSW |
7 |
16,938,857 (GRCm39) |
nonsense |
probably null |
|
R7142:Psg29
|
UTSW |
7 |
16,944,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R7297:Psg29
|
UTSW |
7 |
16,944,616 (GRCm39) |
nonsense |
probably null |
|
R7448:Psg29
|
UTSW |
7 |
16,945,648 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7973:Psg29
|
UTSW |
7 |
16,944,462 (GRCm39) |
missense |
probably benign |
0.03 |
R8027:Psg29
|
UTSW |
7 |
16,942,565 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8979:Psg29
|
UTSW |
7 |
16,937,544 (GRCm39) |
start gained |
probably benign |
|
R9744:Psg29
|
UTSW |
7 |
16,944,495 (GRCm39) |
missense |
probably benign |
0.01 |
X0017:Psg29
|
UTSW |
7 |
16,944,586 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |