Incidental Mutation 'R8358:Psg23'
| ID |
645865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg23
|
| Ensembl Gene |
ENSMUSG00000074359 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 23 |
| Synonyms |
1620401C02Rik |
| MMRRC Submission |
067871-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8358 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18340268-18350426 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18348522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 95
(D95G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057810]
|
| AlphaFold |
Q9D2U0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057810
AA Change: D95G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000056586
Gene: ENSMUSG00000074359
AA Change: D95G
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (49/49) |
| 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 |
|---|
| Abcf3 |
T |
C |
16: 20,367,796 (GRCm39) |
S52P |
possibly damaging |
Het |
| Adamts19 |
G |
T |
18: 59,181,881 (GRCm39) |
G1107C |
probably damaging |
Het |
| Afap1 |
A |
T |
5: 36,131,830 (GRCm39) |
T386S |
probably benign |
Het |
| Alg12 |
T |
C |
15: 88,695,503 (GRCm39) |
Y331C |
probably null |
Het |
| Aste1 |
T |
A |
9: 105,274,255 (GRCm39) |
I165N |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,167,805 (GRCm39) |
I118T |
probably damaging |
Het |
| AW551984 |
A |
G |
9: 39,510,651 (GRCm39) |
V228A |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,816,668 (GRCm39) |
Y357C |
possibly damaging |
Het |
| Cacul1 |
T |
A |
19: 60,551,673 (GRCm39) |
H183L |
possibly damaging |
Het |
| Casp16 |
T |
A |
17: 23,772,348 (GRCm39) |
I39F |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,839,529 (GRCm39) |
C1355F |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,713,610 (GRCm39) |
|
probably null |
Het |
| Ctif |
G |
A |
18: 75,698,115 (GRCm39) |
H182Y |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,329,971 (GRCm39) |
V2637I |
probably benign |
Het |
| Dlx1 |
T |
A |
2: 71,360,652 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,376,457 (GRCm39) |
N1414S |
possibly damaging |
Het |
| Erich6 |
A |
T |
3: 58,544,449 (GRCm39) |
L46* |
probably null |
Het |
| Fcho2 |
G |
A |
13: 98,862,282 (GRCm39) |
R804* |
probably null |
Het |
| Gas7 |
T |
A |
11: 67,543,734 (GRCm39) |
I114N |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,929 (GRCm39) |
T376A |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,229 (GRCm39) |
M85V |
probably benign |
Het |
| Klk1b16 |
T |
A |
7: 43,790,185 (GRCm39) |
C152S |
probably damaging |
Het |
| Lrrc31 |
G |
A |
3: 30,753,932 (GRCm39) |
|
probably benign |
Het |
| Magt1 |
C |
T |
X: 105,040,501 (GRCm39) |
A100T |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,301,855 (GRCm39) |
K1060E |
possibly damaging |
Het |
| Nif3l1 |
A |
T |
1: 58,491,288 (GRCm39) |
T213S |
probably benign |
Het |
| Oasl1 |
T |
A |
5: 115,075,465 (GRCm39) |
F508L |
probably benign |
Het |
| Or10ak8 |
A |
T |
4: 118,773,723 (GRCm39) |
*314R |
probably null |
Het |
| Or2a25 |
T |
C |
6: 42,888,976 (GRCm39) |
V173A |
possibly damaging |
Het |
| Or4a80 |
C |
T |
2: 89,582,423 (GRCm39) |
V250I |
probably benign |
Het |
| Or5b122 |
T |
C |
19: 13,562,764 (GRCm39) |
L32P |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 115,884,180 (GRCm39) |
I79T |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
| Rhbg |
T |
A |
3: 88,152,525 (GRCm39) |
N340Y |
probably damaging |
Het |
| Sash1 |
C |
A |
10: 8,605,745 (GRCm39) |
V882L |
probably benign |
Het |
| Sharpin |
C |
T |
15: 76,232,197 (GRCm39) |
V220I |
probably damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,108,243 (GRCm39) |
D524V |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,780,860 (GRCm39) |
Y362H |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,530,359 (GRCm39) |
D687E |
probably damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,208,411 (GRCm39) |
S127P |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,910,739 (GRCm39) |
I1213V |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,074,080 (GRCm39) |
Y813* |
probably null |
Het |
| Tbc1d10a |
T |
C |
11: 4,155,837 (GRCm39) |
M131T |
probably damaging |
Het |
| Tnfrsf19 |
C |
A |
14: 61,208,634 (GRCm39) |
V296F |
probably benign |
Het |
| Trim45 |
T |
C |
3: 100,834,634 (GRCm39) |
V439A |
probably damaging |
Het |
| Trim54 |
A |
G |
5: 31,294,338 (GRCm39) |
T325A |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,908,770 (GRCm39) |
E577G |
possibly damaging |
Het |
| Uts2r |
T |
A |
11: 121,051,345 (GRCm39) |
Y70N |
probably damaging |
Het |
| Vmn1r72 |
T |
G |
7: 11,404,310 (GRCm39) |
D46A |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,240,198 (GRCm39) |
V577A |
probably benign |
Het |
| Zfp987 |
T |
G |
4: 146,061,343 (GRCm39) |
H258Q |
probably damaging |
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 |
|
R2096:Psg23
|
UTSW |
7 |
18,348,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACAGACCAGGCCTGATACTTC -3'
(R):5'- GCTAGTGTCACCATCCAGTCAC -3'
Sequencing Primer
(F):5'- AGACCAGGCCTGATACTTCTATGTG -3'
(R):5'- TCCAGTCACCACAACACGTAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation