Incidental Mutation 'IGL01717:Sf3a2'
ID104984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sf3a2
Ensembl Gene ENSMUSG00000020211
Gene Namesplicing factor 3a, subunit 2
SynonymsSFA66, Sap62, PRP11, 66kDa
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #IGL01717
Quality Score
Status
Chromosome10
Chromosomal Location80798198-80804924 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 80804692 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 446 (Q446*)
Ref Sequence ENSEMBL: ENSMUSP00000117160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020435] [ENSMUST00000036016] [ENSMUST00000147440] [ENSMUST00000148665] [ENSMUST00000151928] [ENSMUST00000181039] [ENSMUST00000181945]
Predicted Effect probably benign
Transcript: ENSMUST00000020435
SMART Domains Protein: ENSMUSP00000020435
Gene: ENSMUSG00000020216

DomainStartEndE-ValueType
low complexity region 52 77 N/A INTRINSIC
Pfam:JSRP 79 138 1e-29 PFAM
low complexity region 145 158 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
low complexity region 205 230 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036016
SMART Domains Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 38 52 N/A INTRINSIC
Pfam:AMH_N 75 439 3e-133 PFAM
TGFB 456 554 8.57e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139461
Predicted Effect probably benign
Transcript: ENSMUST00000147440
SMART Domains Protein: ENSMUSP00000116478
Gene: ENSMUSG00000020211

DomainStartEndE-ValueType
low complexity region 18 36 N/A INTRINSIC
Blast:CactinC_cactus 41 67 1e-9 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000148665
AA Change: Q446*
SMART Domains Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211
AA Change: Q446*

DomainStartEndE-ValueType
low complexity region 18 36 N/A INTRINSIC
ZnF_U1 51 85 5.02e-9 SMART
ZnF_C2H2 54 78 1.23e1 SMART
CactinC_cactus 91 219 8.29e-35 SMART
low complexity region 300 318 N/A INTRINSIC
low complexity region 320 420 N/A INTRINSIC
low complexity region 423 452 N/A INTRINSIC
low complexity region 459 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151928
SMART Domains Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211

DomainStartEndE-ValueType
low complexity region 18 36 N/A INTRINSIC
ZnF_U1 51 85 5.02e-9 SMART
ZnF_C2H2 54 78 1.23e1 SMART
CactinC_cactus 91 194 1.26e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181039
SMART Domains Protein: ENSMUSP00000137666
Gene: ENSMUSG00000020216

DomainStartEndE-ValueType
low complexity region 92 117 N/A INTRINSIC
Pfam:JSRP 118 179 1e-31 PFAM
low complexity region 185 198 N/A INTRINSIC
low complexity region 219 232 N/A INTRINSIC
low complexity region 245 270 N/A INTRINSIC
low complexity region 313 324 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181945
SMART Domains Protein: ENSMUSP00000137960
Gene: ENSMUSG00000020216

DomainStartEndE-ValueType
transmembrane domain 53 75 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 S4112G probably benign Het
Aif1 A T 17: 35,171,555 M73K probably damaging Het
Alk T C 17: 72,603,382 I110V probably benign Het
Aoah T C 13: 20,999,977 S404P probably damaging Het
Bhlhe41 A G 6: 145,863,037 S350P possibly damaging Het
Capn12 A G 7: 28,889,105 D540G probably benign Het
Chd6 A G 2: 160,965,259 Y2012H possibly damaging Het
Col1a1 A G 11: 94,950,777 T1284A unknown Het
Col24a1 T C 3: 145,524,263 probably benign Het
Col4a5 T A X: 141,639,238 V1070D unknown Het
Col6a5 T C 9: 105,940,273 T280A unknown Het
Dicer1 A T 12: 104,702,787 L1212* probably null Het
Gigyf1 T A 5: 137,525,691 V1041E probably damaging Het
Gm4978 C T 9: 69,450,873 probably benign Het
Gnai1 A G 5: 18,291,461 probably null Het
Golgb1 C T 16: 36,915,502 R1704* probably null Het
Incenp A G 19: 9,893,265 probably benign Het
Lrrc39 A T 3: 116,579,497 probably benign Het
Man2a2 T C 7: 80,367,365 K319E probably damaging Het
Neb T C 2: 52,189,867 D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 I732T probably damaging Het
Pacs1 T A 19: 5,167,972 K130N probably damaging Het
Pappa2 A G 1: 158,857,132 probably null Het
Pole2 T C 12: 69,213,849 M186V probably damaging Het
Rwdd4a T C 8: 47,544,105 probably benign Het
Sel1l3 A G 5: 53,200,168 Y161H probably damaging Het
Slc26a3 T C 12: 31,463,477 I466T probably benign Het
Slc29a4 A T 5: 142,718,746 I348F probably damaging Het
Tbl1xr1 A G 3: 22,193,171 probably benign Het
Tlr5 A T 1: 182,975,398 I756F probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Other mutations in Sf3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02997:Sf3a2 APN 10 80803620 missense probably damaging 1.00
R0470:Sf3a2 UTSW 10 80804554 unclassified probably benign
R1436:Sf3a2 UTSW 10 80804206 unclassified probably benign
R1437:Sf3a2 UTSW 10 80804206 unclassified probably benign
R2233:Sf3a2 UTSW 10 80802829 missense probably benign 0.05
R2234:Sf3a2 UTSW 10 80802829 missense probably benign 0.05
R3871:Sf3a2 UTSW 10 80804693 unclassified probably benign
R4116:Sf3a2 UTSW 10 80801341 missense probably damaging 0.98
R4659:Sf3a2 UTSW 10 80803584 missense probably damaging 1.00
R4946:Sf3a2 UTSW 10 80804113 unclassified probably benign
R5081:Sf3a2 UTSW 10 80804441 unclassified probably benign
R5618:Sf3a2 UTSW 10 80804576 unclassified probably benign
R6039:Sf3a2 UTSW 10 80801463 missense probably damaging 1.00
R6039:Sf3a2 UTSW 10 80801463 missense probably damaging 1.00
R7925:Sf3a2 UTSW 10 80804437 unclassified probably benign
R7930:Sf3a2 UTSW 10 80804437 unclassified probably benign
R8118:Sf3a2 UTSW 10 80803640 missense probably damaging 1.00
R8170:Sf3a2 UTSW 10 80803297 splice site probably null
Posted On2014-01-21