Incidental Mutation 'R4520:Psg28'
| ID |
334175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg28
|
| Ensembl Gene |
ENSMUSG00000030373 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 28 |
| Synonyms |
|
| MMRRC Submission |
041763-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R4520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18156461-18165966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18156826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 470
(M470L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019291]
|
| AlphaFold |
Q4KL66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019291
AA Change: M470L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000019291
Gene: ENSMUSG00000030373
AA Change: M470L
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
138 |
1.84e-2 |
SMART |
|
IG
|
157 |
258 |
1.67e0 |
SMART |
|
IG
|
277 |
376 |
1.65e-4 |
SMART |
|
IGc2
|
394 |
458 |
8.31e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102377
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,776,027 (GRCm39) |
T1739A |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cel |
C |
T |
2: 28,447,980 (GRCm39) |
V349M |
probably benign |
Het |
| Cspp1 |
A |
G |
1: 10,204,452 (GRCm39) |
T1127A |
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,610,982 (GRCm39) |
V113A |
probably benign |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,133 (GRCm39) |
T159A |
probably benign |
Het |
| Degs1 |
T |
C |
1: 182,104,373 (GRCm39) |
D304G |
possibly damaging |
Het |
| Esr2 |
G |
A |
12: 76,214,323 (GRCm39) |
P43S |
possibly damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Gm5444 |
A |
G |
13: 4,884,225 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
T |
A |
5: 110,351,617 (GRCm39) |
L790* |
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,255,725 (GRCm39) |
T105A |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,066,194 (GRCm39) |
E24G |
probably damaging |
Het |
| Ihh |
T |
A |
1: 74,990,109 (GRCm39) |
I89F |
probably damaging |
Het |
| Krt13 |
A |
G |
11: 100,010,174 (GRCm39) |
M269T |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,950,530 (GRCm39) |
H952R |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,778,579 (GRCm39) |
F2041L |
possibly damaging |
Het |
| Msmo1 |
A |
C |
8: 65,173,557 (GRCm39) |
|
probably benign |
Het |
| Mterf1a |
A |
G |
5: 3,940,992 (GRCm39) |
V292A |
probably damaging |
Het |
| Naxe |
A |
G |
3: 87,965,289 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
| Or51h5 |
A |
T |
7: 102,577,764 (GRCm39) |
I310F |
probably benign |
Het |
| Or56b1 |
T |
A |
7: 104,285,376 (GRCm39) |
V165E |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,363 (GRCm39) |
D52G |
probably benign |
Het |
| Otog |
T |
A |
7: 45,890,477 (GRCm39) |
|
probably benign |
Het |
| Pigo |
A |
T |
4: 43,020,301 (GRCm39) |
H880Q |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Pole |
T |
A |
5: 110,445,790 (GRCm39) |
D555E |
probably damaging |
Het |
| Prkag2 |
A |
G |
5: 25,071,169 (GRCm39) |
V403A |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,389,746 (GRCm39) |
T1138A |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpinb9c |
T |
C |
13: 33,335,840 (GRCm39) |
|
probably null |
Het |
| Sh2d6 |
T |
C |
6: 72,495,936 (GRCm39) |
N101D |
possibly damaging |
Het |
| Shisa8 |
C |
G |
15: 82,096,163 (GRCm39) |
V151L |
possibly damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,134,512 (GRCm39) |
T124A |
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,688,975 (GRCm39) |
V100M |
possibly damaging |
Het |
| Sspn |
A |
G |
6: 145,907,033 (GRCm39) |
T79A |
probably benign |
Het |
| Tlr8 |
C |
T |
X: 166,026,171 (GRCm39) |
R893H |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,717,905 (GRCm39) |
K2183R |
unknown |
Het |
| Trim15 |
T |
C |
17: 37,177,242 (GRCm39) |
I139M |
probably benign |
Het |
| Trmt13 |
A |
T |
3: 116,375,262 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,222,391 (GRCm39) |
T610S |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,834 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Psg28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Psg28
|
APN |
7 |
18,161,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01118:Psg28
|
APN |
7 |
18,162,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01606:Psg28
|
APN |
7 |
18,164,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0276:Psg28
|
UTSW |
7 |
18,164,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0391:Psg28
|
UTSW |
7 |
18,160,098 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0713:Psg28
|
UTSW |
7 |
18,156,999 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1454:Psg28
|
UTSW |
7 |
18,161,889 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1725:Psg28
|
UTSW |
7 |
18,161,936 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2176:Psg28
|
UTSW |
7 |
18,161,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Psg28
|
UTSW |
7 |
18,160,348 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5010:Psg28
|
UTSW |
7 |
18,161,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5529:Psg28
|
UTSW |
7 |
18,164,373 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5772:Psg28
|
UTSW |
7 |
18,164,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Psg28
|
UTSW |
7 |
18,160,107 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6039:Psg28
|
UTSW |
7 |
18,160,107 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6046:Psg28
|
UTSW |
7 |
18,160,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6275:Psg28
|
UTSW |
7 |
18,164,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6586:Psg28
|
UTSW |
7 |
18,164,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6928:Psg28
|
UTSW |
7 |
18,157,003 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7197:Psg28
|
UTSW |
7 |
18,164,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Psg28
|
UTSW |
7 |
18,161,769 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7859:Psg28
|
UTSW |
7 |
18,160,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7863:Psg28
|
UTSW |
7 |
18,162,042 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7993:Psg28
|
UTSW |
7 |
18,160,401 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8009:Psg28
|
UTSW |
7 |
18,156,922 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8115:Psg28
|
UTSW |
7 |
18,164,311 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8247:Psg28
|
UTSW |
7 |
18,156,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8984:Psg28
|
UTSW |
7 |
18,156,981 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9160:Psg28
|
UTSW |
7 |
18,164,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Psg28
|
UTSW |
7 |
18,161,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9336:Psg28
|
UTSW |
7 |
18,156,905 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9758:Psg28
|
UTSW |
7 |
18,164,602 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9758:Psg28
|
UTSW |
7 |
18,156,887 (GRCm39) |
nonsense |
probably null |
|
|
R9782:Psg28
|
UTSW |
7 |
18,164,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF016:Psg28
|
UTSW |
7 |
18,156,847 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0020:Psg28
|
UTSW |
7 |
18,161,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGTACATATACTAGTAGCTGGAC -3'
(R):5'- CGTTGGCTCTTCAACAATCAG -3'
Sequencing Primer
(F):5'- TGGACAGCACACCTAAAAGCTCTAG -3'
(R):5'- TGGCTCTTCAACAATCAGAATCTGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation