Incidental Mutation 'R4421:Spopl'
| ID |
327081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spopl
|
| Ensembl Gene |
ENSMUSG00000026771 |
| Gene Name |
speckle-type BTB/POZ protein-like |
| Synonyms |
E430033K04Rik, 4921517N04Rik |
| MMRRC Submission |
041142-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4421 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
23396232-23462118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23407957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 241
(V241M)
|
| 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 |
probably damaging
Transcript: ENSMUST00000132484
AA Change: V241M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114974
Gene: ENSMUSG00000026771
AA Change: V241M
| 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: ENSMUST00000136290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195415
|
| Meta Mutation Damage Score |
0.2768 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
C |
9: 106,312,912 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,714,421 (GRCm39) |
E234G |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| C1s2 |
T |
C |
6: 124,602,174 (GRCm39) |
D673G |
probably benign |
Het |
| Capza3 |
G |
A |
6: 139,987,768 (GRCm39) |
M122I |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,242,800 (GRCm39) |
S735P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,441,508 (GRCm39) |
F13L |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,672 (GRCm39) |
M1078K |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,360,763 (GRCm39) |
I267F |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,623,221 (GRCm39) |
*299W |
probably null |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,713 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
T |
A |
11: 106,121,964 (GRCm39) |
Y160N |
probably damaging |
Het |
| Dhx35 |
A |
T |
2: 158,648,321 (GRCm39) |
R60W |
probably damaging |
Het |
| Gbp10 |
T |
C |
5: 105,372,517 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,283,891 (GRCm39) |
T467A |
possibly damaging |
Het |
| Hip1r |
G |
C |
5: 124,135,925 (GRCm39) |
G542A |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,867,360 (GRCm39) |
Y761C |
probably benign |
Het |
| Krt13 |
T |
G |
11: 100,009,761 (GRCm39) |
T340P |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,071,412 (GRCm39) |
C435R |
probably damaging |
Het |
| Ms4a4c |
T |
A |
19: 11,393,739 (GRCm39) |
I53K |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,929,707 (GRCm39) |
F544L |
probably damaging |
Het |
| Neurod2 |
G |
T |
11: 98,219,026 (GRCm39) |
S46* |
probably null |
Het |
| Nsd3 |
T |
A |
8: 26,131,288 (GRCm39) |
S218T |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4p22 |
A |
T |
2: 88,317,585 (GRCm39) |
N170Y |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,425,056 (GRCm39) |
D433E |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,154,836 (GRCm39) |
D278G |
probably damaging |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Tdrd3 |
A |
G |
14: 87,723,719 (GRCm39) |
E311G |
probably damaging |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
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 |
|
P4748:Spopl
|
UTSW |
2 |
23,401,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- GCTTCCAATAAATAGCAAGTTGGAG -3'
(R):5'- AGGTTCTCACTTAGTAGCTTCAC -3'
Sequencing Primer
(F):5'- AGCAAGTTGGAGGATTTTTGTTTTTG -3'
(R):5'- AGTAGCTTCACTATCTCTGTATGTAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation