Incidental Mutation 'IGL01649:Stpg2'
| ID |
102770 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stpg2
|
| Ensembl Gene |
ENSMUSG00000047940 |
| Gene Name |
sperm tail PG rich repeat containing 2 |
| Synonyms |
LOC381476, B930007M17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01649
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
138910953-139415185 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 139125623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 472
(P472Q)
|
| 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: P472Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: P472Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000083741
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106239
AA Change: P472Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: P472Q
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
G |
9: 46,217,116 (GRCm39) |
S220P |
probably benign |
Het |
| Adam18 |
T |
C |
8: 25,104,912 (GRCm39) |
N634S |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,491,211 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,911,541 (GRCm39) |
S1518G |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,617,226 (GRCm39) |
V341A |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,188,759 (GRCm39) |
V1721A |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,809,553 (GRCm39) |
I274F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,379,139 (GRCm39) |
L622Q |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,176,821 (GRCm39) |
D1960G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,015 (GRCm39) |
T503A |
possibly damaging |
Het |
| Glb1 |
A |
G |
9: 114,253,016 (GRCm39) |
Y73C |
probably damaging |
Het |
| Gm9396 |
G |
T |
3: 129,862,268 (GRCm39) |
|
noncoding transcript |
Het |
| Gml2 |
G |
T |
15: 74,696,070 (GRCm39) |
E155* |
probably null |
Het |
| Ikzf4 |
G |
A |
10: 128,471,689 (GRCm39) |
R323C |
probably damaging |
Het |
| Kiz |
A |
G |
2: 146,731,229 (GRCm39) |
T240A |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,477,351 (GRCm39) |
K480E |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,167,698 (GRCm39) |
H105R |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,221,870 (GRCm39) |
L1464P |
probably damaging |
Het |
| Mrgpra9 |
A |
C |
7: 46,884,900 (GRCm39) |
L256V |
probably benign |
Het |
| Mrpl40 |
T |
C |
16: 18,691,329 (GRCm39) |
Q127R |
probably benign |
Het |
| Myom2 |
G |
T |
8: 15,163,755 (GRCm39) |
R1003L |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,225,477 (GRCm39) |
T1806A |
probably damaging |
Het |
| Or10x4 |
T |
C |
1: 174,218,974 (GRCm39) |
L113P |
probably damaging |
Het |
| Pibf1 |
A |
T |
14: 99,425,199 (GRCm39) |
Y562F |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,044,921 (GRCm39) |
|
probably benign |
Het |
| Ppm1n |
A |
T |
7: 19,012,122 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
A |
G |
7: 18,550,727 (GRCm39) |
V376A |
possibly damaging |
Het |
| Septin8 |
T |
A |
11: 53,425,855 (GRCm39) |
F143I |
possibly damaging |
Het |
| Sestd1 |
A |
G |
2: 77,029,389 (GRCm39) |
Y330H |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,752,193 (GRCm39) |
|
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,945,463 (GRCm39) |
K314R |
probably benign |
Het |
| Vav3 |
T |
C |
3: 109,470,078 (GRCm39) |
Y508H |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation