Incidental Mutation 'R2096:Psg23'
| ID |
232106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg23
|
| Ensembl Gene |
ENSMUSG00000074359 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 23 |
| Synonyms |
1620401C02Rik |
| MMRRC Submission |
040100-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2096 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18340268-18350426 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18348668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 46
(E46D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057810]
|
| AlphaFold |
Q9D2U0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057810
AA Change: E46D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056586
Gene: ENSMUSG00000074359
AA Change: E46D
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
39 |
138 |
2.03e-4 |
SMART |
|
IG
|
159 |
260 |
4.16e-1 |
SMART |
|
IG
|
276 |
375 |
1.25e-4 |
SMART |
|
IGc2
|
393 |
457 |
4.7e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for this spontaneous mutation display no phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,709,195 (GRCm39) |
S120P |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,036,743 (GRCm39) |
Y185* |
probably null |
Het |
| Atg101 |
T |
A |
15: 101,188,382 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Btf3 |
T |
A |
13: 98,449,659 (GRCm39) |
Q109L |
possibly damaging |
Het |
| Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,071,844 (GRCm39) |
|
probably null |
Het |
| Cd209f |
A |
G |
8: 4,155,537 (GRCm39) |
V17A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,656 (GRCm39) |
V2208A |
possibly damaging |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Comp |
T |
C |
8: 70,828,713 (GRCm39) |
C182R |
probably damaging |
Het |
| Ctsl |
A |
G |
13: 64,516,840 (GRCm39) |
|
probably null |
Het |
| Cyp3a44 |
G |
T |
5: 145,725,215 (GRCm39) |
Q329K |
probably damaging |
Het |
| Dcpp1 |
A |
T |
17: 24,099,971 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
G |
8: 110,280,891 (GRCm39) |
V831A |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,791,858 (GRCm39) |
M22T |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,346,742 (GRCm39) |
E2615K |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,426,713 (GRCm39) |
|
probably null |
Het |
| Gm12888 |
T |
G |
4: 121,176,655 (GRCm39) |
I49L |
probably benign |
Het |
| Insyn2b |
C |
A |
11: 34,352,936 (GRCm39) |
S326Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,815,252 (GRCm39) |
M194K |
probably damaging |
Het |
| Mael |
G |
T |
1: 166,053,244 (GRCm39) |
Q254K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,361,322 (GRCm39) |
D461G |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,281,825 (GRCm39) |
N819S |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,739,871 (GRCm39) |
N390Y |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,434 (GRCm39) |
I77T |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,738 (GRCm39) |
V250I |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,485,987 (GRCm39) |
D1870E |
probably benign |
Het |
| Phf2 |
T |
A |
13: 48,985,589 (GRCm39) |
K64* |
probably null |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ppa2 |
A |
G |
3: 133,032,445 (GRCm39) |
T97A |
probably damaging |
Het |
| Psd |
G |
A |
19: 46,313,088 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rab11b |
A |
G |
17: 33,967,976 (GRCm39) |
Y74H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,568,383 (GRCm39) |
S194R |
probably benign |
Het |
| Sema4d |
A |
T |
13: 51,864,037 (GRCm39) |
I414N |
probably damaging |
Het |
| Serpinb1a |
A |
T |
13: 33,031,437 (GRCm39) |
D120E |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,524,861 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Spats2l |
T |
C |
1: 57,985,458 (GRCm39) |
S504P |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
| Sspo |
G |
T |
6: 48,438,608 (GRCm39) |
V1559L |
probably benign |
Het |
| Tas2r118 |
T |
G |
6: 23,969,912 (GRCm39) |
I50L |
possibly damaging |
Het |
| Tdrd3 |
C |
T |
14: 87,743,788 (GRCm39) |
Q573* |
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,667,835 (GRCm39) |
S786P |
possibly damaging |
Het |
| Tlnrd1 |
G |
A |
7: 83,532,062 (GRCm39) |
T123I |
probably benign |
Het |
| Tmem214 |
T |
A |
5: 31,033,714 (GRCm39) |
L555H |
probably damaging |
Het |
| Tmprss12 |
T |
A |
15: 100,183,117 (GRCm39) |
M153K |
probably benign |
Het |
| Tmprss9 |
G |
A |
10: 80,725,268 (GRCm39) |
G410S |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,803,116 (GRCm39) |
M853K |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,655,929 (GRCm39) |
I247T |
possibly damaging |
Het |
| Zcchc7 |
C |
A |
4: 44,931,059 (GRCm39) |
P404T |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
probably benign |
Het |
|
| Other mutations in Psg23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00814:Psg23
|
APN |
7 |
18,348,608 (GRCm39) |
nonsense |
probably null |
|
|
IGL01309:Psg23
|
APN |
7 |
18,348,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01736:Psg23
|
APN |
7 |
18,346,122 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02142:Psg23
|
APN |
7 |
18,344,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02728:Psg23
|
APN |
7 |
18,340,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03080:Psg23
|
APN |
7 |
18,340,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Psg23
|
APN |
7 |
18,344,341 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0113:Psg23
|
UTSW |
7 |
18,345,927 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0137:Psg23
|
UTSW |
7 |
18,348,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0544:Psg23
|
UTSW |
7 |
18,348,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1368:Psg23
|
UTSW |
7 |
18,348,645 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1840:Psg23
|
UTSW |
7 |
18,344,363 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1869:Psg23
|
UTSW |
7 |
18,348,543 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1875:Psg23
|
UTSW |
7 |
18,344,375 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2041:Psg23
|
UTSW |
7 |
18,348,703 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3110:Psg23
|
UTSW |
7 |
18,344,369 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3112:Psg23
|
UTSW |
7 |
18,344,369 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3790:Psg23
|
UTSW |
7 |
18,346,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3892:Psg23
|
UTSW |
7 |
18,345,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Psg23
|
UTSW |
7 |
18,341,043 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4200:Psg23
|
UTSW |
7 |
18,345,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Psg23
|
UTSW |
7 |
18,346,039 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5337:Psg23
|
UTSW |
7 |
18,345,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6016:Psg23
|
UTSW |
7 |
18,346,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6951:Psg23
|
UTSW |
7 |
18,348,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7033:Psg23
|
UTSW |
7 |
18,348,669 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7212:Psg23
|
UTSW |
7 |
18,341,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7427:Psg23
|
UTSW |
7 |
18,345,908 (GRCm39) |
splice site |
probably null |
|
|
R7527:Psg23
|
UTSW |
7 |
18,348,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Psg23
|
UTSW |
7 |
18,340,839 (GRCm39) |
makesense |
probably null |
|
|
R7864:Psg23
|
UTSW |
7 |
18,344,435 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7897:Psg23
|
UTSW |
7 |
18,341,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8155:Psg23
|
UTSW |
7 |
18,346,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:Psg23
|
UTSW |
7 |
18,348,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9032:Psg23
|
UTSW |
7 |
18,348,660 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9085:Psg23
|
UTSW |
7 |
18,348,660 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9365:Psg23
|
UTSW |
7 |
18,344,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Psg23
|
UTSW |
7 |
18,346,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9688:Psg23
|
UTSW |
7 |
18,344,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCCGTTGCTGTACAATATCTC -3'
(R):5'- CTGAGTAGAGGATTCCACAGAGC -3'
Sequencing Primer
(F):5'- AATATCTCTCTATCACTGTGCTCAGG -3'
(R):5'- GAAACGACACCCTCTGAGG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation