Incidental Mutation 'R6586:Psg28'
| ID |
524403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg28
|
| Ensembl Gene |
ENSMUSG00000030373 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 28 |
| Synonyms |
|
| MMRRC Submission |
044710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R6586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18156461-18165966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18164469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 81
(Y81C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019291]
|
| AlphaFold |
Q4KL66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019291
AA Change: Y81C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000019291
Gene: ENSMUSG00000030373
AA Change: Y81C
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
| 9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
| Acaa1a |
A |
G |
9: 119,178,604 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
| Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,716,560 (GRCm39) |
C343* |
probably null |
Het |
| Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
| Mterf2 |
A |
G |
10: 84,955,970 (GRCm39) |
F218S |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
| Nrip2 |
T |
A |
6: 128,381,911 (GRCm39) |
C85* |
probably null |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
| Palm |
A |
C |
10: 79,645,365 (GRCm39) |
N111H |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,454 (GRCm39) |
E386G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
| Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
| Trim60 |
G |
T |
8: 65,453,248 (GRCm39) |
L334I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
| Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,911 (GRCm39) |
M83K |
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 |
|
R4520:Psg28
|
UTSW |
7 |
18,156,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CAGTACACGTGCAAGTACAGG -3'
(R):5'- ATGCTGACACCTGCTCATTATTG -3'
Sequencing Primer
(F):5'- GCAAGTACAGGGATGTATTTGATACC -3'
(R):5'- GACACCTGCTCATTATTGGTTGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation