Incidental Mutation 'R6297:Stpg2'
| ID |
508827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stpg2
|
| Ensembl Gene |
ENSMUSG00000047940 |
| Gene Name |
sperm tail PG rich repeat containing 2 |
| Synonyms |
LOC381476, B930007M17Rik |
| MMRRC Submission |
044464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
138910953-139415185 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139407432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 528
(V528A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062306]
[ENSMUST00000106239]
|
| AlphaFold |
Q8C8J0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062306
AA Change: V528A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: V528A
| 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 |
possibly damaging
Transcript: ENSMUST00000106239
AA Change: V528A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: V528A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,926,179 (GRCm39) |
V1205A |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,105,570 (GRCm39) |
V316A |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,986,180 (GRCm39) |
I102V |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,557,655 (GRCm39) |
|
probably null |
Het |
| Ccdc47 |
T |
C |
11: 106,094,427 (GRCm39) |
Y324C |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,985,564 (GRCm39) |
K341E |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,020,289 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,853,866 (GRCm39) |
I570V |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,344,529 (GRCm39) |
Y27N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,852,144 (GRCm39) |
D1824G |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,022,323 (GRCm39) |
C112S |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,800,980 (GRCm39) |
D590G |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,750,410 (GRCm39) |
I697N |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,469,494 (GRCm39) |
D170N |
probably damaging |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,892,399 (GRCm39) |
|
probably null |
Het |
| Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
| Ints15 |
A |
T |
5: 143,293,787 (GRCm39) |
L230Q |
possibly damaging |
Het |
| Lman2 |
T |
C |
13: 55,496,244 (GRCm39) |
N267S |
probably damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,348 (GRCm39) |
I546F |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,964 (GRCm39) |
S197P |
probably damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,553,027 (GRCm39) |
Y793H |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,730,054 (GRCm39) |
R2799* |
probably null |
Het |
| Mup13 |
T |
A |
4: 61,181,634 (GRCm39) |
I148F |
probably benign |
Het |
| Or2aj5 |
A |
C |
16: 19,424,680 (GRCm39) |
V246G |
possibly damaging |
Het |
| Or5m10 |
A |
G |
2: 85,717,159 (GRCm39) |
N5S |
probably benign |
Het |
| Or8g53 |
A |
T |
9: 39,683,522 (GRCm39) |
D191E |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,334,135 (GRCm39) |
K403E |
possibly damaging |
Het |
| Pigz |
A |
T |
16: 31,763,755 (GRCm39) |
Y271F |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,104,472 (GRCm39) |
L517P |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,642,132 (GRCm39) |
L232P |
probably damaging |
Het |
| Rpa3 |
C |
A |
6: 8,256,767 (GRCm39) |
G71* |
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,287,584 (GRCm39) |
T623A |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,488,641 (GRCm39) |
D597G |
probably damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,389,361 (GRCm39) |
M419K |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,243 (GRCm39) |
T486A |
probably benign |
Het |
| Vamp9 |
A |
G |
5: 100,089,092 (GRCm39) |
Y119C |
probably damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,311,046 (GRCm39) |
V153A |
probably benign |
Het |
| Vmn2r48 |
T |
C |
7: 9,668,807 (GRCm39) |
N548D |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,895 (GRCm39) |
I378T |
possibly damaging |
Het |
| Wdr37 |
A |
G |
13: 8,892,764 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
G |
A |
2: 146,868,490 (GRCm39) |
R181H |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
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 |
|
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'- GGTAAATGTCTCATATTTTCCTAGCTC -3'
(R):5'- ACCAATATTGCAGTGAGAGCG -3'
Sequencing Primer
(F):5'- ATTTTCCTAGCTCATGTTCATAATGC -3'
(R):5'- ATATTGCAGTGAGAGCGCATGTTAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation