Incidental Mutation 'IGL02344:Speer4c2'
| ID |
289226 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Speer4c2
|
| Ensembl Gene |
ENSMUSG00000069720 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 4C2 |
| Synonyms |
4930572O03Rik |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL02344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
15857286-15862057 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
C to A
at 15861884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092696]
|
| AlphaFold |
Q8C5Y0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092696
|
| SMART Domains |
Protein: ENSMUSP00000090370
Gene: ENSMUSG00000069720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
6 |
90 |
5.2e-29 |
PFAM |
|
low complexity region
|
203 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178227
|
| SMART Domains |
Protein: ENSMUSP00000136079
Gene: ENSMUSG00000094230
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI182371 |
T |
C |
2: 34,979,198 (GRCm39) |
N167D |
probably benign |
Het |
| AI467606 |
G |
T |
7: 126,691,691 (GRCm39) |
A89S |
probably damaging |
Het |
| Atrip |
T |
A |
9: 108,901,692 (GRCm39) |
K122* |
probably null |
Het |
| B3glct |
C |
T |
5: 149,650,313 (GRCm39) |
R139* |
probably null |
Het |
| Cep135 |
A |
G |
5: 76,764,668 (GRCm39) |
T549A |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,439,107 (GRCm39) |
N64S |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,622,337 (GRCm39) |
I101V |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,180,191 (GRCm39) |
|
probably benign |
Het |
| Ly6g5c |
A |
G |
17: 35,329,723 (GRCm39) |
T68A |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,998,272 (GRCm39) |
|
probably null |
Het |
| Nme8 |
T |
A |
13: 19,858,574 (GRCm39) |
E88V |
possibly damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,700,990 (GRCm39) |
D86E |
probably damaging |
Het |
| Rnf169 |
A |
G |
7: 99,575,642 (GRCm39) |
S318P |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,856,590 (GRCm39) |
Y493C |
probably null |
Het |
| Tet3 |
A |
G |
6: 83,380,815 (GRCm39) |
V451A |
probably benign |
Het |
| Tmc3 |
A |
T |
7: 83,258,302 (GRCm39) |
I431L |
probably benign |
Het |
| Trp73 |
C |
T |
4: 154,146,500 (GRCm39) |
G420S |
possibly damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,689,405 (GRCm39) |
S517G |
probably damaging |
Het |
|
| Other mutations in Speer4c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Speer4c2
|
APN |
5 |
15,861,884 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL00088:Speer4c2
|
APN |
5 |
15,861,884 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01443:Speer4c2
|
APN |
5 |
15,857,642 (GRCm39) |
makesense |
probably null |
|
|
IGL01789:Speer4c2
|
APN |
5 |
15,861,884 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01790:Speer4c2
|
APN |
5 |
15,861,884 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01791:Speer4c2
|
APN |
5 |
15,861,884 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01792:Speer4c2
|
APN |
5 |
15,861,884 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01795:Speer4c2
|
APN |
5 |
15,861,884 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R8385:Speer4c2
|
UTSW |
5 |
15,857,669 (GRCm39) |
missense |
unknown |
|
|
R8990:Speer4c2
|
UTSW |
5 |
15,858,598 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation