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 |