Incidental Mutation 'R3790:Psg29'
| ID |
272491 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16937402-16949681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16938950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 75
(K75E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075934]
|
| AlphaFold |
Q3URN6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075934
AA Change: K75E
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000075320
Gene: ENSMUSG00000023159
AA Change: K75E
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
G |
A |
17: 13,147,460 (GRCm39) |
Q186* |
probably null |
Het |
| Alk |
A |
G |
17: 72,910,427 (GRCm39) |
L93P |
possibly damaging |
Het |
| Ankrd24 |
C |
T |
10: 81,478,513 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
A |
T |
4: 47,049,212 (GRCm39) |
V231E |
probably damaging |
Het |
| Ap5z1 |
C |
T |
5: 142,456,168 (GRCm39) |
S329L |
probably benign |
Het |
| Asic4 |
C |
A |
1: 75,446,485 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
T |
G |
19: 21,784,816 (GRCm39) |
I433S |
probably damaging |
Het |
| Cers4 |
C |
A |
8: 4,568,285 (GRCm39) |
Q113K |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,813,520 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,718,797 (GRCm39) |
M166V |
probably benign |
Het |
| Corin |
T |
C |
5: 72,592,641 (GRCm39) |
Q184R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Gm53 |
T |
C |
11: 96,142,477 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,498,745 (GRCm39) |
S4045P |
probably benign |
Het |
| Kif22 |
A |
G |
7: 126,628,668 (GRCm39) |
L480P |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,648,111 (GRCm39) |
|
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Lnx1 |
A |
G |
5: 74,789,027 (GRCm39) |
|
probably benign |
Het |
| Lrsam1 |
T |
C |
2: 32,848,171 (GRCm39) |
E43G |
probably null |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,912,450 (GRCm39) |
E1112D |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,276,626 (GRCm39) |
L60I |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
| Or4c122 |
A |
G |
2: 89,079,337 (GRCm39) |
F234L |
probably benign |
Het |
| Or4k5 |
A |
C |
14: 50,386,026 (GRCm39) |
F102V |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Psg23 |
C |
A |
7: 18,346,126 (GRCm39) |
V190L |
probably benign |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Rgs4 |
A |
G |
1: 169,571,991 (GRCm39) |
S103P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,747 (GRCm39) |
Y1144C |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,907,001 (GRCm39) |
|
probably benign |
Het |
| Snrnp35 |
T |
A |
5: 124,628,248 (GRCm39) |
D20E |
probably damaging |
Het |
| Syce1l |
C |
A |
8: 114,369,897 (GRCm39) |
A10E |
possibly damaging |
Het |
| Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
| Tmem212 |
T |
C |
3: 27,940,594 (GRCm39) |
|
probably null |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,568,471 (GRCm39) |
C27474F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,218,310 (GRCm39) |
V48A |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,185 (GRCm39) |
|
probably null |
Het |
| Washc2 |
A |
G |
6: 116,224,933 (GRCm39) |
|
probably benign |
Het |
| Zfp943 |
A |
G |
17: 22,211,403 (GRCm39) |
D163G |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,031,230 (GRCm39) |
Y626C |
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 |
|
IGL02546:Psg29
|
APN |
7 |
16,942,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAAGACGTAAGCTGAGTG -3'
(R):5'- AAAGAATCACTTACGGTTCACG -3'
Sequencing Primer
(F):5'- CTGATCACACCTGCTTAATACTGAGG -3'
(R):5'- CGGTTCACGTGGAGGAATG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation