Incidental Mutation 'IGL02057:Spopfm2'
ID |
185253 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spopfm2
|
Ensembl Gene |
ENSMUSG00000074424 |
Gene Name |
speckle-type BTB/POZ protein family member 2 |
Synonyms |
Gm10696 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
IGL02057
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
94081719-94085500 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 94083662 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 50
(S50C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132199
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161475]
[ENSMUST00000167916]
|
AlphaFold |
Q3UTC4 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159115
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161475
AA Change: S50C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124942 Gene: ENSMUSG00000074424 AA Change: S50C
Domain | Start | End | E-Value | Type |
MATH
|
24 |
130 |
4.7e-10 |
SMART |
BTB
|
188 |
287 |
1.53e-25 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167916
AA Change: S50C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132199 Gene: ENSMUSG00000074424 AA Change: S50C
Domain | Start | End | E-Value | Type |
MATH
|
24 |
130 |
4.7e-10 |
SMART |
BTB
|
188 |
287 |
1.53e-25 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
Het |
|
Other mutations in Spopfm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01744:Spopfm2
|
APN |
3 |
94,083,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R1983:Spopfm2
|
UTSW |
3 |
94,083,601 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2102:Spopfm2
|
UTSW |
3 |
94,082,973 (GRCm39) |
nonsense |
probably null |
|
R2110:Spopfm2
|
UTSW |
3 |
94,082,834 (GRCm39) |
missense |
probably damaging |
0.99 |
R2172:Spopfm2
|
UTSW |
3 |
94,083,605 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2358:Spopfm2
|
UTSW |
3 |
94,082,855 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2358:Spopfm2
|
UTSW |
3 |
94,082,854 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4534:Spopfm2
|
UTSW |
3 |
94,083,757 (GRCm39) |
missense |
probably benign |
0.39 |
R4939:Spopfm2
|
UTSW |
3 |
94,083,540 (GRCm39) |
nonsense |
probably null |
|
R4961:Spopfm2
|
UTSW |
3 |
94,082,841 (GRCm39) |
nonsense |
probably null |
|
R4993:Spopfm2
|
UTSW |
3 |
94,083,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R7154:Spopfm2
|
UTSW |
3 |
94,083,526 (GRCm39) |
missense |
probably benign |
0.17 |
R7218:Spopfm2
|
UTSW |
3 |
94,082,856 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7256:Spopfm2
|
UTSW |
3 |
94,083,667 (GRCm39) |
missense |
probably benign |
0.01 |
R7464:Spopfm2
|
UTSW |
3 |
94,083,411 (GRCm39) |
missense |
probably benign |
0.08 |
R7473:Spopfm2
|
UTSW |
3 |
94,083,509 (GRCm39) |
nonsense |
probably null |
|
R7596:Spopfm2
|
UTSW |
3 |
94,083,737 (GRCm39) |
missense |
probably benign |
0.12 |
R7974:Spopfm2
|
UTSW |
3 |
94,082,848 (GRCm39) |
missense |
probably benign |
0.18 |
R8419:Spopfm2
|
UTSW |
3 |
94,082,921 (GRCm39) |
missense |
probably benign |
0.06 |
R8497:Spopfm2
|
UTSW |
3 |
94,083,119 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8519:Spopfm2
|
UTSW |
3 |
94,083,497 (GRCm39) |
missense |
probably benign |
0.05 |
R8686:Spopfm2
|
UTSW |
3 |
94,083,427 (GRCm39) |
missense |
probably benign |
0.01 |
R9223:Spopfm2
|
UTSW |
3 |
94,082,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R9748:Spopfm2
|
UTSW |
3 |
94,083,155 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Spopfm2
|
UTSW |
3 |
94,083,409 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2014-05-07 |