Incidental Mutation 'IGL01789:Speer4c2'
ID |
278921 |
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 # |
IGL01789
|
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 |
Afm |
C |
T |
5: 90,673,443 (GRCm39) |
P232S |
probably benign |
Het |
Atp11b |
A |
T |
3: 35,843,741 (GRCm39) |
Q81L |
possibly damaging |
Het |
Cgn |
G |
A |
3: 94,683,528 (GRCm39) |
P413S |
possibly damaging |
Het |
Eps8 |
C |
T |
6: 137,516,364 (GRCm39) |
M5I |
probably benign |
Het |
Fam83h |
A |
T |
15: 75,877,969 (GRCm39) |
M143K |
probably damaging |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,566,352 (GRCm39) |
C2217Y |
probably damaging |
Het |
Leo1 |
T |
C |
9: 75,361,896 (GRCm39) |
|
probably benign |
Het |
Lipm |
A |
G |
19: 34,096,147 (GRCm39) |
D321G |
probably damaging |
Het |
Nos2 |
C |
T |
11: 78,835,483 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,999,372 (GRCm39) |
Y257C |
probably benign |
Het |
Rnpep |
T |
C |
1: 135,195,833 (GRCm39) |
K359E |
possibly damaging |
Het |
Tas2r130 |
T |
A |
6: 131,607,118 (GRCm39) |
S226C |
probably damaging |
Het |
Tpbg |
A |
T |
9: 85,726,954 (GRCm39) |
M308L |
probably benign |
Het |
Trip11 |
G |
A |
12: 101,838,090 (GRCm39) |
S1715L |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,239,462 (GRCm39) |
N3508K |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,634,141 (GRCm39) |
|
probably null |
Het |
Wdhd1 |
A |
T |
14: 47,512,274 (GRCm39) |
M39K |
probably benign |
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 |
|
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 |
|
IGL02344: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 |