Incidental Mutation 'IGL02032:Spopfm1'
| ID |
184385 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spopfm1
|
| Ensembl Gene |
ENSMUSG00000089696 |
| Gene Name |
speckle-type BTB/POZ protein family member 1 |
| Synonyms |
Gm4778 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
IGL02032
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94171343-94174091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94173640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 212
(V212A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098878]
[ENSMUST00000159517]
|
| AlphaFold |
L7N229 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098878
AA Change: V216A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096477
Gene: ENSMUSG00000089696
AA Change: V216A
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
25 |
134 |
6.01e-8 |
SMART |
|
BTB
|
192 |
291 |
7.66e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159517
AA Change: V212A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123868
Gene: ENSMUSG00000089696
AA Change: V212A
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
21 |
130 |
6.01e-8 |
SMART |
|
BTB
|
188 |
287 |
7.66e-26 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
A |
5: 62,828,340 (GRCm39) |
I944F |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,622,796 (GRCm39) |
K614R |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,703,767 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
G |
A |
1: 139,702,284 (GRCm39) |
P67S |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,269,474 (GRCm39) |
Y1491F |
probably benign |
Het |
| Dennd2d |
T |
C |
3: 106,398,543 (GRCm39) |
I176T |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,996,326 (GRCm39) |
Y2670C |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,107,769 (GRCm39) |
H833L |
probably damaging |
Het |
| Ell |
G |
A |
8: 71,038,651 (GRCm39) |
A463T |
probably benign |
Het |
| Emsy |
G |
T |
7: 98,239,987 (GRCm39) |
D1089E |
possibly damaging |
Het |
| Erc1 |
T |
G |
6: 119,607,570 (GRCm39) |
K677N |
probably damaging |
Het |
| Exd1 |
T |
G |
2: 119,363,948 (GRCm39) |
Q140P |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,172,714 (GRCm39) |
V284E |
probably benign |
Het |
| Fbxo36 |
A |
G |
1: 84,874,387 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,179,002 (GRCm39) |
V16E |
probably benign |
Het |
| H2-M1 |
A |
T |
17: 36,982,768 (GRCm39) |
Y31N |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,886 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,826,248 (GRCm39) |
T1023A |
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,994,773 (GRCm39) |
S296R |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,438,117 (GRCm39) |
T141S |
probably benign |
Het |
| Soat1 |
A |
G |
1: 156,268,145 (GRCm39) |
I254T |
probably benign |
Het |
| Stat5a |
A |
T |
11: 100,752,654 (GRCm39) |
D79V |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,774,432 (GRCm39) |
T2158N |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,017 (GRCm39) |
K287E |
probably benign |
Het |
| Vav1 |
A |
T |
17: 57,604,090 (GRCm39) |
E164V |
possibly damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,476 (GRCm39) |
T408S |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,949,466 (GRCm39) |
I629F |
probably damaging |
Het |
|
| Other mutations in Spopfm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01767:Spopfm1
|
APN |
3 |
94,173,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02694:Spopfm1
|
APN |
3 |
94,173,459 (GRCm39) |
missense |
probably benign |
|
|
IGL03171:Spopfm1
|
APN |
3 |
94,173,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0195:Spopfm1
|
UTSW |
3 |
94,173,229 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0739:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1064:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1149:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1149:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1150:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1152:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1284:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1286:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1287:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1349:Spopfm1
|
UTSW |
3 |
94,173,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1358:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1372:Spopfm1
|
UTSW |
3 |
94,173,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1383:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1399:Spopfm1
|
UTSW |
3 |
94,173,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1756:Spopfm1
|
UTSW |
3 |
94,173,525 (GRCm39) |
missense |
probably benign |
|
|
R1996:Spopfm1
|
UTSW |
3 |
94,173,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2679:Spopfm1
|
UTSW |
3 |
94,173,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Spopfm1
|
UTSW |
3 |
94,173,787 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5108:Spopfm1
|
UTSW |
3 |
94,173,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5706:Spopfm1
|
UTSW |
3 |
94,173,959 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6251:Spopfm1
|
UTSW |
3 |
94,173,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Spopfm1
|
UTSW |
3 |
94,173,855 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7091:Spopfm1
|
UTSW |
3 |
94,173,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Spopfm1
|
UTSW |
3 |
94,173,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7503:Spopfm1
|
UTSW |
3 |
94,173,780 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7595:Spopfm1
|
UTSW |
3 |
94,173,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7867:Spopfm1
|
UTSW |
3 |
94,173,154 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8338:Spopfm1
|
UTSW |
3 |
94,173,285 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8525:Spopfm1
|
UTSW |
3 |
94,173,862 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9069:Spopfm1
|
UTSW |
3 |
94,173,153 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9239:Spopfm1
|
UTSW |
3 |
94,173,871 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2014-05-07 |
Incidental Mutation