Incidental Mutation 'IGL01817:Speer1c'
| ID |
154415 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Speer1c
|
| Ensembl Gene |
ENSMUSG00000069355 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 1C |
| Synonyms |
Gm5152 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
IGL01817
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
10292008-10296493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 10295297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 48
(A48S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088625]
|
| AlphaFold |
G3XA03 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000081735
AA Change: A36S
|
| SMART Domains |
Protein: ENSMUSP00000080432
Gene: ENSMUSG00000069355
AA Change: A36S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
39 |
125 |
9.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088625
AA Change: A48S
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000085997
Gene: ENSMUSG00000069355
AA Change: A48S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
50 |
136 |
4.2e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198581
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Eif4g3 |
T |
C |
4: 137,847,673 (GRCm39) |
V198A |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 85,046,320 (GRCm39) |
E23G |
probably damaging |
Het |
| Gm4847 |
C |
A |
1: 166,462,471 (GRCm39) |
D340Y |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,459,301 (GRCm39) |
|
probably null |
Het |
| Ighv1-13 |
G |
A |
12: 114,594,600 (GRCm39) |
|
probably benign |
Het |
| Ighv1-43 |
C |
A |
12: 114,909,714 (GRCm39) |
E69D |
probably benign |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,715 (GRCm39) |
E69G |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,356,728 (GRCm39) |
L138F |
probably damaging |
Het |
| Nme1nme2 |
G |
T |
11: 93,846,447 (GRCm39) |
|
probably benign |
Het |
| Nsun5 |
G |
T |
5: 135,398,893 (GRCm39) |
G19V |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,348 (GRCm39) |
I294T |
probably benign |
Het |
| Or4c118 |
A |
G |
2: 88,974,702 (GRCm39) |
F222L |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
| Per1 |
T |
C |
11: 68,995,025 (GRCm39) |
L615P |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,423,908 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
T |
A |
9: 105,528,021 (GRCm39) |
I458N |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,992,622 (GRCm39) |
V108A |
probably benign |
Het |
| Scamp2 |
T |
A |
9: 57,488,903 (GRCm39) |
C201* |
probably null |
Het |
| Stambpl1 |
G |
T |
19: 34,211,393 (GRCm39) |
L151F |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,380,171 (GRCm39) |
Y195C |
probably damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,222 (GRCm39) |
T107I |
probably damaging |
Het |
|
| Other mutations in Speer1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02721:Speer1c
|
APN |
5 |
10,293,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1739:Speer1c
|
UTSW |
5 |
10,295,171 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7113:Speer1c
|
UTSW |
5 |
10,292,977 (GRCm39) |
missense |
|
|
|
R7174:Speer1c
|
UTSW |
5 |
10,295,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Speer1c
|
UTSW |
5 |
10,295,192 (GRCm39) |
missense |
|
|
|
Z1088:Speer1c
|
UTSW |
5 |
10,293,097 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation