Incidental Mutation 'IGL03192:Speer3'
| ID |
412667 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Speer3
|
| Ensembl Gene |
ENSMUSG00000067855 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 3 |
| Synonyms |
4933405P08Rik, SPEER-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL03192
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
13841633-13846833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13841702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 11
(R11G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124677]
|
| AlphaFold |
W4VSP1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124677
AA Change: R11G
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115668
Gene: ENSMUSG00000067855
AA Change: R11G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
48 |
134 |
2.3e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199961
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
G |
A |
3: 137,933,721 (GRCm39) |
G293S |
probably damaging |
Het |
| Ahi1 |
G |
A |
10: 20,841,534 (GRCm39) |
V274I |
probably benign |
Het |
| Arfip2 |
C |
T |
7: 105,287,150 (GRCm39) |
R138H |
probably damaging |
Het |
| Asb8 |
G |
A |
15: 98,033,776 (GRCm39) |
R260C |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,026,759 (GRCm39) |
H531Q |
possibly damaging |
Het |
| Clcn7 |
C |
A |
17: 25,352,575 (GRCm39) |
P42Q |
probably benign |
Het |
| Cxcr6 |
G |
T |
9: 123,639,111 (GRCm39) |
K37N |
possibly damaging |
Het |
| Fndc3c1 |
C |
T |
X: 105,479,922 (GRCm39) |
|
probably null |
Het |
| Gramd1b |
A |
T |
9: 40,218,097 (GRCm39) |
L429H |
probably damaging |
Het |
| Grm1 |
T |
C |
10: 10,955,660 (GRCm39) |
D208G |
possibly damaging |
Het |
| H2-T24 |
C |
T |
17: 36,326,368 (GRCm39) |
W177* |
probably null |
Het |
| Il17rc |
G |
A |
6: 113,449,846 (GRCm39) |
V151M |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,950,562 (GRCm39) |
F741S |
probably damaging |
Het |
| Neil1 |
A |
G |
9: 57,050,819 (GRCm39) |
S339P |
probably benign |
Het |
| Nptx1 |
T |
A |
11: 119,437,585 (GRCm39) |
N182I |
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,046,076 (GRCm39) |
I32K |
probably benign |
Het |
| Phtf2 |
A |
G |
5: 20,966,717 (GRCm39) |
V723A |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,680,540 (GRCm39) |
M1047I |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,653 (GRCm39) |
I15V |
probably damaging |
Het |
| Rtbdn |
T |
A |
8: 85,679,284 (GRCm39) |
S30T |
probably benign |
Het |
| Serinc4 |
G |
T |
2: 121,282,872 (GRCm39) |
S430* |
probably null |
Het |
| Slc25a33 |
A |
G |
4: 149,829,223 (GRCm39) |
I312T |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,291,709 (GRCm39) |
|
probably benign |
Het |
| Unc93a |
A |
T |
17: 13,335,073 (GRCm39) |
Y324* |
probably null |
Het |
| Wdr31 |
A |
T |
4: 62,372,149 (GRCm39) |
D322E |
possibly damaging |
Het |
| Zbtb9 |
A |
G |
17: 27,193,272 (GRCm39) |
T226A |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,657,748 (GRCm39) |
E721G |
possibly damaging |
Het |
|
| Other mutations in Speer3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01663:Speer3
|
APN |
5 |
13,843,236 (GRCm39) |
nonsense |
probably null |
|
|
IGL02730:Speer3
|
APN |
5 |
13,843,285 (GRCm39) |
missense |
probably benign |
|
|
IGL03301:Speer3
|
APN |
5 |
13,845,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Speer3
|
UTSW |
5 |
13,846,335 (GRCm39) |
missense |
probably benign |
|
|
R3028:Speer3
|
UTSW |
5 |
13,845,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4091:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4092:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4368:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4369:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4405:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4450:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4509:Speer3
|
UTSW |
5 |
13,846,368 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4594:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4702:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5096:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5508:Speer3
|
UTSW |
5 |
13,844,678 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5583:Speer3
|
UTSW |
5 |
13,844,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6061:Speer3
|
UTSW |
5 |
13,844,705 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6337:Speer3
|
UTSW |
5 |
13,843,369 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6518:Speer3
|
UTSW |
5 |
13,845,462 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7503:Speer3
|
UTSW |
5 |
13,843,348 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9456:Speer3
|
UTSW |
5 |
13,846,368 (GRCm39) |
missense |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation