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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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