Incidental Mutation 'IGL01713:Sf1'
ID104871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sf1
Ensembl Gene ENSMUSG00000024949
Gene Namesplicing factor 1
SynonymsMZFM, Zfp162, CW17R, WBP4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01713
Quality Score
Status
Chromosome19
Chromosomal Location6363690-6378030 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 6374289 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113485] [ENSMUST00000113487] [ENSMUST00000113488] [ENSMUST00000113489] [ENSMUST00000124667] [ENSMUST00000131252] [ENSMUST00000144409] [ENSMUST00000155973]
Predicted Effect probably benign
Transcript: ENSMUST00000113485
SMART Domains Protein: ENSMUSP00000109113
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
PDB:2M0G|A 1 86 3e-33 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000113487
SMART Domains Protein: ENSMUSP00000109115
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
KH 134 227 4.38e-13 SMART
ZnF_C2HC 278 294 4.45e-3 SMART
low complexity region 335 358 N/A INTRINSIC
low complexity region 378 402 N/A INTRINSIC
low complexity region 406 446 N/A INTRINSIC
low complexity region 468 524 N/A INTRINSIC
low complexity region 532 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113488
SMART Domains Protein: ENSMUSP00000109116
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
KH 134 227 4.38e-13 SMART
ZnF_C2HC 278 294 4.45e-3 SMART
low complexity region 335 358 N/A INTRINSIC
low complexity region 378 402 N/A INTRINSIC
low complexity region 406 446 N/A INTRINSIC
low complexity region 468 524 N/A INTRINSIC
low complexity region 545 553 N/A INTRINSIC
low complexity region 567 599 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113489
SMART Domains Protein: ENSMUSP00000109117
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
KH 134 227 4.38e-13 SMART
ZnF_C2HC 278 294 4.45e-3 SMART
low complexity region 335 358 N/A INTRINSIC
low complexity region 378 402 N/A INTRINSIC
low complexity region 406 448 N/A INTRINSIC
low complexity region 472 517 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124667
SMART Domains Protein: ENSMUSP00000114788
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
low complexity region 22 46 N/A INTRINSIC
low complexity region 50 90 N/A INTRINSIC
low complexity region 120 176 N/A INTRINSIC
low complexity region 184 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125516
SMART Domains Protein: ENSMUSP00000117172
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
low complexity region 24 47 N/A INTRINSIC
low complexity region 67 91 N/A INTRINSIC
low complexity region 95 135 N/A INTRINSIC
low complexity region 157 171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131252
SMART Domains Protein: ENSMUSP00000121309
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
Pfam:SF1-HH 18 130 1.5e-47 PFAM
KH 134 227 4.38e-13 SMART
ZnF_C2HC 278 294 4.45e-3 SMART
low complexity region 335 358 N/A INTRINSIC
low complexity region 378 402 N/A INTRINSIC
low complexity region 406 446 N/A INTRINSIC
low complexity region 468 524 N/A INTRINSIC
low complexity region 545 553 N/A INTRINSIC
low complexity region 564 609 N/A INTRINSIC
low complexity region 615 637 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144239
Predicted Effect probably benign
Transcript: ENSMUST00000144409
SMART Domains Protein: ENSMUSP00000123175
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
PDB:2M09|A 1 27 4e-12 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154260
Predicted Effect probably benign
Transcript: ENSMUST00000155973
SMART Domains Protein: ENSMUSP00000114438
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
PDB:4FXW|D 1 106 9e-71 PDB
KH 108 201 4.38e-13 SMART
ZnF_C2HC 252 267 1.43e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162237
SMART Domains Protein: ENSMUSP00000124590
Gene: ENSMUSG00000024949

DomainStartEndE-ValueType
low complexity region 11 55 N/A INTRINSIC
low complexity region 74 119 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice heterozygous for a gene trapped allele exhibit embryonic lethalilty prior to E8.5. Mice heterozygous for a gene trapped allele exhibit increased incidence of chemically induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 131,139,043 I148T possibly damaging Het
Aipl1 A G 11: 72,036,623 C89R probably damaging Het
Apaf1 G A 10: 91,061,832 probably benign Het
Atp7b A G 8: 22,028,573 V83A probably damaging Het
Ccdc180 G T 4: 45,921,025 probably null Het
Crebbp T C 16: 4,128,648 I418V possibly damaging Het
Cyp26b1 G A 6: 84,574,301 P427L probably benign Het
Dnal4 A G 15: 79,762,405 Y92H probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Epha3 G A 16: 63,552,562 T926I probably benign Het
Fgg T C 3: 83,008,416 S55P probably benign Het
Gosr1 A T 11: 76,754,756 M66K probably benign Het
Igkv12-89 G T 6: 68,835,312 probably benign Het
Map3k12 T C 15: 102,502,321 E451G probably damaging Het
Phkg1 T C 5: 129,866,873 E179G probably benign Het
Pnpla1 A T 17: 28,881,605 D482V possibly damaging Het
Pramel1 T C 4: 143,397,082 V109A probably benign Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Pus7l T C 15: 94,531,612 T442A probably benign Het
Sall3 A G 18: 80,969,847 S1125P probably damaging Het
Scyl2 A C 10: 89,654,225 I150S probably damaging Het
Slco1a6 A G 6: 142,086,567 S611P possibly damaging Het
Vmn2r103 G T 17: 19,794,068 C374F probably damaging Het
Xntrpc T C 7: 102,083,852 probably benign Het
Other mutations in Sf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Sf1 APN 19 6372022 unclassified probably benign
R0004:Sf1 UTSW 19 6374191 missense probably damaging 0.98
R1638:Sf1 UTSW 19 6372060 missense possibly damaging 0.62
R2999:Sf1 UTSW 19 6374876 unclassified probably benign
R4088:Sf1 UTSW 19 6368440 critical splice donor site probably null
R4254:Sf1 UTSW 19 6371647 missense probably damaging 1.00
R4559:Sf1 UTSW 19 6374815 small deletion probably benign
R4575:Sf1 UTSW 19 6375913 unclassified probably benign
R4736:Sf1 UTSW 19 6365664 missense probably damaging 0.99
R4794:Sf1 UTSW 19 6375664 unclassified probably benign
R5050:Sf1 UTSW 19 6372559 missense probably damaging 1.00
R6678:Sf1 UTSW 19 6374513 splice site probably null
R6834:Sf1 UTSW 19 6374097 missense probably damaging 1.00
Posted On2014-01-21