Incidental Mutation 'IGL01744:Spopfm2'
| ID |
152971 |
| 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 # |
IGL01744
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94081719-94085500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94083544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 89
(K89M)
|
| 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: K89M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124942
Gene: ENSMUSG00000074424
AA Change: K89M
| 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: K89M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132199
Gene: ENSMUSG00000074424
AA Change: K89M
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
C |
7: 12,284,459 (GRCm39) |
I102T |
possibly damaging |
Het |
| 4933412E24Rik |
C |
A |
15: 59,887,424 (GRCm39) |
A339S |
possibly damaging |
Het |
| Ackr2 |
A |
G |
9: 121,738,185 (GRCm39) |
T187A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,844,956 (GRCm39) |
V777A |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,227,861 (GRCm39) |
D515E |
probably damaging |
Het |
| Aire |
C |
A |
10: 77,872,557 (GRCm39) |
E354* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,502,568 (GRCm39) |
K670R |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,162,563 (GRCm39) |
V287A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,467,230 (GRCm39) |
I851N |
probably damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,707,323 (GRCm39) |
I36F |
possibly damaging |
Het |
| Copa |
A |
G |
1: 171,940,756 (GRCm39) |
E714G |
probably benign |
Het |
| Cth |
A |
T |
3: 157,630,572 (GRCm39) |
N32K |
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,540,434 (GRCm39) |
M349K |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,966 (GRCm39) |
S188G |
unknown |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flt1 |
T |
C |
5: 147,508,271 (GRCm39) |
N1161S |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,573,917 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
A |
G |
15: 89,031,046 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,417 (GRCm39) |
|
probably benign |
Het |
| Myo1f |
C |
A |
17: 33,802,654 (GRCm39) |
|
probably benign |
Het |
| Nipsnap1 |
G |
A |
11: 4,839,912 (GRCm39) |
R211H |
probably damaging |
Het |
| Or52ab4 |
A |
G |
7: 102,987,435 (GRCm39) |
H58R |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,336,302 (GRCm39) |
I111N |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,175,859 (GRCm39) |
I1841F |
probably damaging |
Het |
| Pirb |
G |
T |
7: 3,720,175 (GRCm39) |
Y399* |
probably null |
Het |
| Ppp1r36 |
A |
T |
12: 76,486,006 (GRCm39) |
N388I |
possibly damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,061 (GRCm39) |
D180G |
possibly damaging |
Het |
| Prss39 |
A |
G |
1: 34,541,280 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,178,431 (GRCm39) |
V373D |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,889,923 (GRCm39) |
E186G |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,184,029 (GRCm39) |
V997A |
probably benign |
Het |
|
| Other mutations in Spopfm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02057:Spopfm2
|
APN |
3 |
94,083,662 (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 |
2014-02-04 |
Incidental Mutation