Incidental Mutation 'R3727:Stpg2'
| ID |
270819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stpg2
|
| Ensembl Gene |
ENSMUSG00000047940 |
| Gene Name |
sperm tail PG rich repeat containing 2 |
| Synonyms |
LOC381476, B930007M17Rik |
| MMRRC Submission |
040718-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3727 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
138910953-139415185 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139004257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 278
(F278S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062306]
[ENSMUST00000106239]
|
| AlphaFold |
Q8C8J0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062306
AA Change: F278S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: F278S
| 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: F278S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: F278S
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
T |
15: 72,985,706 (GRCm39) |
V630M |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,208,395 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a1 |
T |
A |
11: 100,921,246 (GRCm39) |
S243T |
probably benign |
Het |
| BC035044 |
C |
A |
6: 128,867,822 (GRCm39) |
G37* |
probably null |
Het |
| C3 |
G |
T |
17: 57,514,379 (GRCm39) |
N1435K |
possibly damaging |
Het |
| Caly |
T |
C |
7: 139,650,417 (GRCm39) |
E175G |
probably damaging |
Het |
| Ccng2 |
T |
C |
5: 93,422,810 (GRCm39) |
F330S |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,822,075 (GRCm39) |
A1157T |
probably benign |
Het |
| Cyp2c38 |
A |
G |
19: 39,380,739 (GRCm39) |
|
probably benign |
Het |
| Cypt1 |
T |
A |
X: 16,389,674 (GRCm39) |
L128* |
probably null |
Het |
| Dmgdh |
A |
G |
13: 93,828,575 (GRCm39) |
N239D |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,958,622 (GRCm39) |
Q2155* |
probably null |
Het |
| Dpp3 |
A |
G |
19: 4,973,213 (GRCm39) |
I127T |
probably benign |
Het |
| Eps15 |
G |
T |
4: 109,227,882 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,649,734 (GRCm39) |
D388G |
probably damaging |
Het |
| Flt3 |
C |
A |
5: 147,291,733 (GRCm39) |
R572S |
probably damaging |
Het |
| Gm44501 |
T |
C |
17: 40,887,506 (GRCm39) |
F8S |
unknown |
Het |
| Hormad2 |
C |
A |
11: 4,358,598 (GRCm39) |
G270C |
probably benign |
Het |
| Ifrd2 |
C |
T |
9: 107,468,881 (GRCm39) |
R40* |
probably null |
Het |
| Ina |
G |
A |
19: 47,004,158 (GRCm39) |
R322H |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 65,003,197 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,340,773 (GRCm39) |
N1034S |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,353,104 (GRCm39) |
E1770V |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,452,132 (GRCm39) |
I381M |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nt5c |
C |
T |
11: 115,381,474 (GRCm39) |
W185* |
probably null |
Het |
| Or2j3 |
A |
T |
17: 38,616,310 (GRCm39) |
I14N |
possibly damaging |
Het |
| Or2y1e |
G |
A |
11: 49,218,622 (GRCm39) |
R128H |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pdzrn3 |
T |
A |
6: 101,133,906 (GRCm39) |
D441V |
probably damaging |
Het |
| Rab42 |
A |
G |
4: 132,029,964 (GRCm39) |
M86T |
probably benign |
Het |
| Slc52a3 |
C |
T |
2: 151,847,701 (GRCm39) |
P270S |
probably benign |
Het |
| Styxl2 |
G |
A |
1: 165,927,075 (GRCm39) |
R846C |
probably damaging |
Het |
| Tmem240 |
T |
C |
4: 155,824,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r22 |
A |
G |
6: 123,627,584 (GRCm39) |
L4P |
possibly damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,661,744 (GRCm39) |
Q497* |
probably null |
Het |
| Wnk1 |
T |
C |
6: 119,969,414 (GRCm39) |
H347R |
probably damaging |
Het |
| Zmym2 |
A |
T |
14: 57,156,806 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R8105:Stpg2
|
UTSW |
3 |
138,948,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGGTCCAAATGATACTTTGACCAGG -3'
(R):5'- ACAATTCTGCAGGGTTTTGC -3'
Sequencing Primer
(F):5'- CCAAATGATACTTTGACCAGGATCTC -3'
(R):5'- GGTTTTGCCCCTAATATACCCAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation