Incidental Mutation 'R4464:Psg29'
| ID |
330271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg29
|
| Ensembl Gene |
ENSMUSG00000023159 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 29 |
| Synonyms |
cea17 |
| MMRRC Submission |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16937402-16949681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16944575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 362
(N362Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075934]
|
| AlphaFold |
Q3URN6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075934
AA Change: N362Y
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075320
Gene: ENSMUSG00000023159
AA Change: N362Y
| 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: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
| Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
| Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
| Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
| Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
| Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
| Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
| Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
probably benign |
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 |
|
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 |
|
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'- CTCAATGTATAGGGTCCCTGCC -3'
(R):5'- CACACATTCTTCTCTGTGGAGG -3'
Sequencing Primer
(F):5'- AGGGTCCCTGCCTTTAAAATTG -3'
(R):5'- GACTGCTGCTTGTCTACGAAGTAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation