Incidental Mutation 'R6016:Psg23'
| ID |
478597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg23
|
| Ensembl Gene |
ENSMUSG00000074359 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 23 |
| Synonyms |
1620401C02Rik |
| MMRRC Submission |
043255-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18340268-18350426 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18346112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 194
(H194Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057810]
|
| AlphaFold |
Q9D2U0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057810
AA Change: H194Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000056586
Gene: ENSMUSG00000074359
AA Change: H194Q
| 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: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
| Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
| Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
| Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
| Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
| Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
| Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
| Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
| Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
| Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
| Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
| Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
| Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
| Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
| Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
| Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
| Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
| Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
| Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
| Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
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 |
|
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'- CACTTACTGTCCACCTGAAGG -3'
(R):5'- CACAGCTGATGAGGACACAG -3'
Sequencing Primer
(F):5'- CCTGAAGGTAAATGTGTGCTAGTTCC -3'
(R):5'- CAGGGTGCCATCTCAGTCAAATATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation