Incidental Mutation 'IGL02294:Speer4a1'
| ID |
290136 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Speer4a1
|
| Ensembl Gene |
ENSMUSG00000073119 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 4A1 |
| Synonyms |
Speer4a, 1700027N01Rik, SPEER-4A |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL02294
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
26239268-26244503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26243240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 82
(T82S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079447]
|
| AlphaFold |
F8VPX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079447
AA Change: T82S
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000078415
Gene: ENSMUSG00000073119
AA Change: T82S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
50 |
134 |
1.7e-26 |
PFAM |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
183 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
261 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
G |
18: 65,439,146 (GRCm39) |
V749A |
possibly damaging |
Het |
| Col6a4 |
T |
C |
9: 105,943,931 (GRCm39) |
D1181G |
probably benign |
Het |
| Crb1 |
A |
G |
1: 139,162,520 (GRCm39) |
S1213P |
possibly damaging |
Het |
| D430041D05Rik |
A |
T |
2: 104,085,351 (GRCm39) |
M1066K |
probably benign |
Het |
| Fasn |
G |
T |
11: 120,701,102 (GRCm39) |
T1999N |
probably damaging |
Het |
| Flg2 |
C |
T |
3: 93,111,053 (GRCm39) |
A1027V |
unknown |
Het |
| Gbp5 |
T |
A |
3: 142,209,588 (GRCm39) |
V178E |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,909,929 (GRCm39) |
D445G |
probably benign |
Het |
| Hps3 |
T |
C |
3: 20,068,212 (GRCm39) |
E482G |
probably damaging |
Het |
| Impdh1 |
G |
A |
6: 29,205,201 (GRCm39) |
A200V |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,099,537 (GRCm39) |
Y134C |
probably damaging |
Het |
| Ly6g |
T |
A |
15: 75,030,413 (GRCm39) |
I77N |
possibly damaging |
Het |
| Oprk1 |
T |
G |
1: 5,672,610 (GRCm39) |
M249R |
probably damaging |
Het |
| Or5ac21 |
T |
C |
16: 59,123,975 (GRCm39) |
L153P |
probably damaging |
Het |
| Or5h17 |
T |
C |
16: 58,820,428 (GRCm39) |
C127R |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,391,606 (GRCm39) |
|
probably benign |
Het |
| Slc16a4 |
T |
C |
3: 107,208,384 (GRCm39) |
I298T |
probably benign |
Het |
| Sox21 |
A |
G |
14: 118,472,950 (GRCm39) |
M33T |
probably benign |
Het |
| Stard13 |
T |
C |
5: 150,986,580 (GRCm39) |
D310G |
probably benign |
Het |
| Trpm6 |
C |
A |
19: 18,831,427 (GRCm39) |
Q1431K |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,259,281 (GRCm39) |
K446* |
probably null |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
|
| Other mutations in Speer4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Speer4a1
|
APN |
5 |
26,240,045 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01959:Speer4a1
|
APN |
5 |
26,240,902 (GRCm39) |
nonsense |
probably null |
|
|
FR4340:Speer4a1
|
UTSW |
5 |
26,241,746 (GRCm39) |
nonsense |
probably null |
|
|
FR4342:Speer4a1
|
UTSW |
5 |
26,241,746 (GRCm39) |
nonsense |
probably null |
|
|
FR4589:Speer4a1
|
UTSW |
5 |
26,241,746 (GRCm39) |
nonsense |
probably null |
|
|
R0137:Speer4a1
|
UTSW |
5 |
26,240,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1068:Speer4a1
|
UTSW |
5 |
26,241,024 (GRCm39) |
missense |
probably null |
0.84 |
|
R1209:Speer4a1
|
UTSW |
5 |
26,240,123 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3805:Speer4a1
|
UTSW |
5 |
26,240,082 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4525:Speer4a1
|
UTSW |
5 |
26,244,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4851:Speer4a1
|
UTSW |
5 |
26,243,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Speer4a1
|
UTSW |
5 |
26,241,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5542:Speer4a1
|
UTSW |
5 |
26,241,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6081:Speer4a1
|
UTSW |
5 |
26,239,960 (GRCm39) |
nonsense |
probably null |
|
|
R6742:Speer4a1
|
UTSW |
5 |
26,241,054 (GRCm39) |
splice site |
probably null |
|
|
R7521:Speer4a1
|
UTSW |
5 |
26,241,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Speer4a1
|
UTSW |
5 |
26,243,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Speer4a1
|
UTSW |
5 |
26,241,754 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8830:Speer4a1
|
UTSW |
5 |
26,241,793 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1177:Speer4a1
|
UTSW |
5 |
26,240,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation