Incidental Mutation 'R3054:Psg29'
| ID |
265070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg29
|
| Ensembl Gene |
ENSMUSG00000023159 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 29 |
| Synonyms |
cea17 |
| MMRRC Submission |
040563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3054 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16937402-16949681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16942727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 243
(T243A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075934]
|
| AlphaFold |
Q3URN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075934
AA Change: T243A
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075320
Gene: ENSMUSG00000023159
AA Change: T243A
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
A |
T |
6: 52,156,108 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,338,336 (GRCm39) |
K528E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,254,653 (GRCm39) |
C235R |
probably damaging |
Het |
| Armc6 |
C |
A |
8: 70,677,799 (GRCm39) |
V177L |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,328,959 (GRCm39) |
V27D |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cst3 |
A |
G |
2: 148,713,951 (GRCm39) |
S118P |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,254 (GRCm39) |
D84G |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,507,738 (GRCm39) |
N45S |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,912,802 (GRCm39) |
I3369F |
probably damaging |
Het |
| Gm5591 |
T |
C |
7: 38,220,058 (GRCm39) |
S272G |
probably benign |
Het |
| Gm8444 |
A |
T |
15: 81,727,845 (GRCm39) |
|
probably benign |
Het |
| Gm9776 |
A |
G |
13: 94,495,158 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Larp1b |
A |
T |
3: 40,918,535 (GRCm39) |
I59F |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,200,961 (GRCm39) |
A1092T |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,569,250 (GRCm39) |
V1157A |
unknown |
Het |
| Mboat1 |
A |
T |
13: 30,379,724 (GRCm39) |
M92L |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,378 (GRCm39) |
L284F |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,599,403 (GRCm39) |
F3317L |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,417,778 (GRCm39) |
V3575F |
probably damaging |
Het |
| Polr1e |
C |
T |
4: 45,018,724 (GRCm39) |
T18I |
possibly damaging |
Het |
| Ppp4r1 |
G |
T |
17: 66,143,074 (GRCm39) |
A764S |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,685,753 (GRCm39) |
Y71H |
probably damaging |
Het |
| Radx |
T |
A |
X: 138,412,306 (GRCm39) |
V439E |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,622 (GRCm39) |
P584S |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,862,163 (GRCm39) |
H35Q |
probably damaging |
Het |
| Strn |
A |
T |
17: 78,990,321 (GRCm39) |
V65D |
probably damaging |
Het |
| Sumf1 |
T |
C |
6: 108,130,165 (GRCm39) |
N185D |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,116,341 (GRCm39) |
K251R |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,806 (GRCm39) |
M72K |
probably damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,646,507 (GRCm39) |
E1537G |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,154,593 (GRCm39) |
N592S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATGGTTCAAAGGGATGACCGTG -3'
(R):5'- AGTCTGAGCTATGGCCATTTG -3'
Sequencing Primer
(F):5'- GCACAGGCACCTTGAGATTG -3'
(R):5'- ACATGTTTGTCTGGCACTAAGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation