Incidental Mutation 'IGL02432:Stpg1'
| ID |
293164 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stpg1
|
| Ensembl Gene |
ENSMUSG00000028801 |
| Gene Name |
sperm tail PG rich repeat containing 1 |
| Synonyms |
4930403G18Rik, 4930555I21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135222101-135265114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135235321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 54
(E54G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063707]
|
| AlphaFold |
Q9D2F5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063707
AA Change: E54G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067647
Gene: ENSMUSG00000028801
AA Change: E54G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
194 |
224 |
1.8e-5 |
PFAM |
|
Pfam:SHIPPO-rpt
|
232 |
261 |
7.9e-6 |
PFAM |
|
Pfam:SHIPPO-rpt
|
273 |
312 |
1e-4 |
PFAM |
|
Pfam:SHIPPO-rpt
|
313 |
334 |
8.8e-4 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153891
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
G |
A |
2: 151,314,481 (GRCm39) |
T399M |
probably benign |
Het |
| A830018L16Rik |
A |
T |
1: 11,818,303 (GRCm39) |
N321I |
probably damaging |
Het |
| Aimp1 |
T |
C |
3: 132,379,738 (GRCm39) |
T135A |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,576,589 (GRCm39) |
M848T |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,012 (GRCm39) |
D387G |
probably damaging |
Het |
| Daxx |
G |
A |
17: 34,131,311 (GRCm39) |
D413N |
probably benign |
Het |
| Gbp6 |
A |
T |
5: 105,422,228 (GRCm39) |
V492E |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,226,671 (GRCm39) |
M1358L |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,876,465 (GRCm39) |
D880E |
possibly damaging |
Het |
| Mmd2 |
A |
T |
5: 142,561,094 (GRCm39) |
I47N |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,943,668 (GRCm39) |
M401I |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,668 (GRCm39) |
K963R |
probably benign |
Het |
| Otop2 |
A |
G |
11: 115,219,988 (GRCm39) |
H276R |
probably damaging |
Het |
| Pxn |
T |
A |
5: 115,683,805 (GRCm39) |
D79E |
probably damaging |
Het |
| Rho |
G |
A |
6: 115,909,146 (GRCm39) |
V61I |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,250,154 (GRCm39) |
Y173C |
probably damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,400,493 (GRCm39) |
D212G |
possibly damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,177,853 (GRCm39) |
T140A |
probably benign |
Het |
| Traf3ip3 |
C |
T |
1: 192,866,884 (GRCm39) |
C316Y |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,371,101 (GRCm39) |
A517T |
probably damaging |
Het |
| Vmn1r30 |
T |
C |
6: 58,412,655 (GRCm39) |
N59S |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,313,821 (GRCm39) |
V387M |
probably benign |
Het |
|
| Other mutations in Stpg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Stpg1
|
APN |
4 |
135,256,856 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00793:Stpg1
|
APN |
4 |
135,233,718 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02118:Stpg1
|
APN |
4 |
135,235,375 (GRCm39) |
splice site |
probably benign |
|
|
R0362:Stpg1
|
UTSW |
4 |
135,233,777 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0594:Stpg1
|
UTSW |
4 |
135,246,742 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1233:Stpg1
|
UTSW |
4 |
135,252,740 (GRCm39) |
missense |
probably benign |
|
|
R2509:Stpg1
|
UTSW |
4 |
135,263,960 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3743:Stpg1
|
UTSW |
4 |
135,242,197 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4897:Stpg1
|
UTSW |
4 |
135,246,676 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4933:Stpg1
|
UTSW |
4 |
135,233,727 (GRCm39) |
missense |
probably benign |
|
|
R5412:Stpg1
|
UTSW |
4 |
135,252,786 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7140:Stpg1
|
UTSW |
4 |
135,261,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7313:Stpg1
|
UTSW |
4 |
135,256,827 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8309:Stpg1
|
UTSW |
4 |
135,256,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8787:Stpg1
|
UTSW |
4 |
135,261,108 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9274:Stpg1
|
UTSW |
4 |
135,252,782 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-04-16 |
Incidental Mutation