Incidental Mutation 'R8105:Stpg2'
| ID |
630680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stpg2
|
| Ensembl Gene |
ENSMUSG00000047940 |
| Gene Name |
sperm tail PG rich repeat containing 2 |
| Synonyms |
LOC381476, B930007M17Rik |
| MMRRC Submission |
067536-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8105 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
138910953-139415185 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138948925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 240
(I240M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062306]
[ENSMUST00000106239]
|
| AlphaFold |
Q8C8J0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062306
AA Change: I240M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: I240M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
20 |
50 |
1.1e1 |
PFAM |
|
Pfam:SHIPPO-rpt
|
62 |
92 |
1.3e1 |
PFAM |
|
Pfam:SHIPPO-rpt
|
97 |
127 |
9.1e1 |
PFAM |
|
Pfam:SHIPPO-rpt
|
162 |
193 |
1.3e2 |
PFAM |
|
Pfam:SHIPPO-rpt
|
200 |
235 |
1.7e0 |
PFAM |
|
Pfam:SHIPPO-rpt
|
249 |
285 |
1.2e-2 |
PFAM |
|
Pfam:SHIPPO-rpt
|
292 |
315 |
3.2e1 |
PFAM |
|
Pfam:SHIPPO-rpt
|
334 |
371 |
2.1e0 |
PFAM |
|
Pfam:SHIPPO-rpt
|
421 |
462 |
3.8e0 |
PFAM |
|
Pfam:SHIPPO-rpt
|
471 |
497 |
2.9e1 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106239
AA Change: I240M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: I240M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
200 |
220 |
6.9e-1 |
PFAM |
|
Pfam:SHIPPO-rpt
|
249 |
285 |
8.8e-2 |
PFAM |
|
Pfam:SHIPPO-rpt
|
334 |
371 |
5.4e-2 |
PFAM |
|
| Meta Mutation Damage Score |
0.1373 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid1b |
G |
A |
17: 5,341,518 (GRCm39) |
A941T |
possibly damaging |
Het |
| Calb1 |
A |
T |
4: 15,900,767 (GRCm39) |
|
probably null |
Het |
| Cc2d1b |
T |
C |
4: 108,485,130 (GRCm39) |
S518P |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cltc |
C |
T |
11: 86,598,438 (GRCm39) |
V975I |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,567 (GRCm39) |
W62R |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,027,505 (GRCm39) |
Y276H |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,372,548 (GRCm39) |
V2933A |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fhod1 |
T |
C |
8: 106,063,847 (GRCm39) |
T253A |
unknown |
Het |
| Fndc3b |
G |
A |
3: 27,524,374 (GRCm39) |
T462I |
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,395,354 (GRCm39) |
N359K |
probably damaging |
Het |
| Gmppa |
T |
C |
1: 75,413,641 (GRCm39) |
V34A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,255,949 (GRCm39) |
T484A |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,510 (GRCm39) |
E264G |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,569,588 (GRCm39) |
F182S |
probably benign |
Het |
| Ly9 |
G |
C |
1: 171,432,890 (GRCm39) |
|
probably null |
Het |
| Meox2 |
C |
T |
12: 37,159,061 (GRCm39) |
H78Y |
possibly damaging |
Het |
| Mynn |
G |
A |
3: 30,665,628 (GRCm39) |
C420Y |
possibly damaging |
Het |
| Or52e18 |
C |
G |
7: 104,609,629 (GRCm39) |
M103I |
probably benign |
Het |
| Rfx1 |
C |
G |
8: 84,814,505 (GRCm39) |
A358G |
possibly damaging |
Het |
| Rnf151 |
G |
A |
17: 24,935,400 (GRCm39) |
T177I |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,682,748 (GRCm39) |
N578H |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,538,231 (GRCm39) |
V1824I |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,306,476 (GRCm39) |
F208L |
probably benign |
Het |
| Vldlr |
C |
T |
19: 27,216,204 (GRCm39) |
Q342* |
probably null |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,245 (GRCm39) |
F274L |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,915,352 (GRCm39) |
L435P |
probably damaging |
Het |
|
| Other mutations in Stpg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01346:Stpg2
|
APN |
3 |
139,125,635 (GRCm39) |
splice site |
probably benign |
|
|
IGL01505:Stpg2
|
APN |
3 |
139,023,214 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01649:Stpg2
|
APN |
3 |
139,125,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Stpg2
|
APN |
3 |
139,014,970 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
PIT4687001:Stpg2
|
UTSW |
3 |
138,921,026 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0053:Stpg2
|
UTSW |
3 |
138,918,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0099:Stpg2
|
UTSW |
3 |
138,948,954 (GRCm39) |
splice site |
probably benign |
|
|
R0417:Stpg2
|
UTSW |
3 |
138,924,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Stpg2
|
UTSW |
3 |
139,125,463 (GRCm39) |
splice site |
probably benign |
|
|
R1719:Stpg2
|
UTSW |
3 |
138,937,960 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1791:Stpg2
|
UTSW |
3 |
139,023,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1799:Stpg2
|
UTSW |
3 |
139,125,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Stpg2
|
UTSW |
3 |
139,228,742 (GRCm39) |
splice site |
probably null |
|
|
R1974:Stpg2
|
UTSW |
3 |
139,014,944 (GRCm39) |
nonsense |
probably null |
|
|
R3725:Stpg2
|
UTSW |
3 |
139,023,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3727:Stpg2
|
UTSW |
3 |
139,004,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4225:Stpg2
|
UTSW |
3 |
138,921,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4694:Stpg2
|
UTSW |
3 |
139,023,177 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4698:Stpg2
|
UTSW |
3 |
139,014,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Stpg2
|
UTSW |
3 |
138,921,134 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5236:Stpg2
|
UTSW |
3 |
138,937,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Stpg2
|
UTSW |
3 |
138,948,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5567:Stpg2
|
UTSW |
3 |
139,125,547 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6297:Stpg2
|
UTSW |
3 |
139,407,432 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6692:Stpg2
|
UTSW |
3 |
139,228,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7113:Stpg2
|
UTSW |
3 |
139,407,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7154:Stpg2
|
UTSW |
3 |
138,921,056 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7553:Stpg2
|
UTSW |
3 |
138,924,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Stpg2
|
UTSW |
3 |
139,407,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8154:Stpg2
|
UTSW |
3 |
139,014,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Stpg2
|
UTSW |
3 |
139,004,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Stpg2
|
UTSW |
3 |
139,014,993 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
RF021:Stpg2
|
UTSW |
3 |
138,918,011 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0009:Stpg2
|
UTSW |
3 |
139,004,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Stpg2
|
UTSW |
3 |
138,948,851 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1176:Stpg2
|
UTSW |
3 |
139,407,401 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCCACTTGAAGCTGAAGC -3'
(R):5'- CTGACATTGCAGGACTTTTAAAGG -3'
Sequencing Primer
(F):5'- CTATCTGGATTTTTGAAAGGAAAAG -3'
(R):5'- GAATGGGCTTCCTGCTTATTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation