Incidental Mutation 'P4748:Spopl'
| ID |
26531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spopl
|
| Ensembl Gene |
ENSMUSG00000026771 |
| Gene Name |
speckle-type BTB/POZ protein-like |
| Synonyms |
E430033K04Rik, 4921517N04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P4748 ()
of strain
712
|
| Quality Score |
222 |
|
Status
|
Validated
(trace)
|
| Chromosome |
2 |
| Chromosomal Location |
23396232-23462118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23401455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 351
(M351K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028110]
[ENSMUST00000132484]
[ENSMUST00000132827]
|
| AlphaFold |
Q2M2N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028110
|
| SMART Domains |
Protein: ENSMUSP00000141519
Gene: ENSMUSG00000026771
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
2 |
108 |
5.9e-17 |
SMART |
|
low complexity region
|
141 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132484
AA Change: M351K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000114974
Gene: ENSMUSG00000026771
AA Change: M351K
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
36 |
142 |
9.46e-15 |
SMART |
|
BTB
|
200 |
297 |
5.99e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132827
|
| SMART Domains |
Protein: ENSMUSP00000142047
Gene: ENSMUSG00000026771
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
36 |
142 |
5.9e-17 |
SMART |
|
low complexity region
|
175 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195415
|
| Meta Mutation Damage Score |
0.2394 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 94.5%
|
| Validation Efficiency |
87% (26/30) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no gross morphological and skeletal defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acoxl |
T |
C |
2: 127,928,264 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Akap10 |
A |
G |
11: 61,763,846 (GRCm39) |
L662P |
possibly damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,978,925 (GRCm39) |
T64M |
possibly damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,906 (GRCm39) |
G53D |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,176 (GRCm39) |
|
probably benign |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,210,983 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,219 (GRCm39) |
P583L |
probably damaging |
Het |
| Klra8 |
A |
T |
6: 130,099,007 (GRCm39) |
D185E |
possibly damaging |
Het |
| Meis2 |
T |
A |
2: 115,694,961 (GRCm39) |
Q394L |
probably benign |
Het |
| Or2t47 |
G |
A |
11: 58,442,348 (GRCm39) |
T239I |
probably damaging |
Het |
| Pzp |
C |
T |
6: 128,467,052 (GRCm39) |
G1107D |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,188,731 (GRCm39) |
W1350* |
probably null |
Het |
| Scand1 |
C |
A |
2: 156,153,865 (GRCm39) |
R135L |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Usp51 |
GATGCAT |
GAT |
X: 151,791,227 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
T |
11: 69,453,031 (GRCm39) |
D425E |
probably damaging |
Het |
|
| Other mutations in Spopl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Spopl
|
APN |
2 |
23,427,643 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
PIT4453001:Spopl
|
UTSW |
2 |
23,435,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0738:Spopl
|
UTSW |
2 |
23,427,533 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2358:Spopl
|
UTSW |
2 |
23,427,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3711:Spopl
|
UTSW |
2 |
23,427,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Spopl
|
UTSW |
2 |
23,427,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4097:Spopl
|
UTSW |
2 |
23,401,413 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4400:Spopl
|
UTSW |
2 |
23,407,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4421:Spopl
|
UTSW |
2 |
23,407,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4497:Spopl
|
UTSW |
2 |
23,407,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4498:Spopl
|
UTSW |
2 |
23,407,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4570:Spopl
|
UTSW |
2 |
23,427,497 (GRCm39) |
nonsense |
probably null |
|
|
R4702:Spopl
|
UTSW |
2 |
23,405,309 (GRCm39) |
splice site |
probably null |
|
|
R6919:Spopl
|
UTSW |
2 |
23,407,873 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7387:Spopl
|
UTSW |
2 |
23,427,521 (GRCm39) |
missense |
probably benign |
|
|
R7921:Spopl
|
UTSW |
2 |
23,435,490 (GRCm39) |
missense |
probably benign |
|
|
X0067:Spopl
|
UTSW |
2 |
23,434,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCAATGCCTTTCCAGCTTCTG -3'
(R):5'- GTTTGCCCGAAAATGCTATGCTGTC -3'
Sequencing Primer
(F):5'- GTATTGGAATCCTTCGGGACC -3'
(R):5'- CTGCAAAGCATTTGTAAAGTGTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation