Incidental Mutation 'R4225:Stpg2'
ID |
319995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stpg2
|
Ensembl Gene |
ENSMUSG00000047940 |
Gene Name |
sperm tail PG rich repeat containing 2 |
Synonyms |
LOC381476, B930007M17Rik |
MMRRC Submission |
041045-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R4225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
138910953-139415185 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 138921053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 86
(R86Q)
|
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: R86Q
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000051539 Gene: ENSMUSG00000047940 AA Change: R86Q
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: R86Q
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101846 Gene: ENSMUSG00000047940 AA Change: R86Q
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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,085,106 (GRCm39) |
I569V |
possibly damaging |
Het |
Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
Arhgef26 |
A |
G |
3: 62,288,343 (GRCm39) |
D471G |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,607,789 (GRCm39) |
V240A |
probably benign |
Het |
Bsn |
A |
G |
9: 107,983,932 (GRCm39) |
M3374T |
unknown |
Het |
Ccdc66 |
A |
G |
14: 27,212,736 (GRCm39) |
L529P |
probably damaging |
Het |
Ctif |
A |
G |
18: 75,568,308 (GRCm39) |
I610T |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,847,027 (GRCm39) |
Y512N |
probably damaging |
Het |
Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
Gba2 |
A |
T |
4: 43,569,464 (GRCm39) |
|
probably benign |
Het |
Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,814,735 (GRCm39) |
E2696G |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,904,484 (GRCm39) |
K319M |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
Lrig1 |
T |
A |
6: 94,599,639 (GRCm39) |
I348F |
probably damaging |
Het |
Mc3r |
G |
A |
2: 172,090,954 (GRCm39) |
V59M |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,422,431 (GRCm39) |
K575R |
probably benign |
Het |
Musk |
A |
T |
4: 58,373,240 (GRCm39) |
M714L |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,181,732 (GRCm39) |
|
probably null |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,812,497 (GRCm39) |
I3810T |
possibly damaging |
Het |
Pou2f1 |
T |
C |
1: 165,738,889 (GRCm39) |
I177V |
possibly damaging |
Het |
Rb1 |
T |
C |
14: 73,506,631 (GRCm39) |
M373V |
possibly damaging |
Het |
Ric1 |
A |
G |
19: 29,580,131 (GRCm39) |
N1311D |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,366,771 (GRCm39) |
Y84H |
probably damaging |
Het |
Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
Tdrd6 |
C |
T |
17: 43,936,864 (GRCm39) |
D1395N |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,831,951 (GRCm39) |
I649N |
probably damaging |
Het |
Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
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 |
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'- TGGTATGAGCTTAGAGTCAAAACTG -3'
(R):5'- CATCAAACACACTGCTTAGGATTTC -3'
Sequencing Primer
(F):5'- AACTTGGGGTCTCAGCT -3'
(R):5'- GTGACACACTGCAGATGT -3'
|
Posted On |
2015-06-12 |