Incidental Mutation 'IGL03404:Sfxn5'
ID421550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfxn5
Ensembl Gene ENSMUSG00000033720
Gene Namesideroflexin 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL03404
Quality Score
Status
Chromosome6
Chromosomal Location85213049-85333422 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 85299536 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045846] [ENSMUST00000059034] [ENSMUST00000113788]
Predicted Effect probably benign
Transcript: ENSMUST00000045846
SMART Domains Protein: ENSMUSP00000041872
Gene: ENSMUSG00000033720

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Mtc 34 342 2.5e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059034
SMART Domains Protein: ENSMUSP00000054648
Gene: ENSMUSG00000033720

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Mtc 34 292 2.1e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113788
SMART Domains Protein: ENSMUSP00000109418
Gene: ENSMUSG00000033720

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Mtc 34 89 6.7e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149362
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8 T G 17: 32,312,276 probably benign Het
Ap3d1 A G 10: 80,730,037 S99P probably damaging Het
Arhgef1 T A 7: 24,916,843 M304K probably benign Het
Arpc5l T C 2: 39,013,883 L128P probably damaging Het
Chl1 A T 6: 103,693,091 I497F probably damaging Het
Dnah3 C T 7: 119,938,977 G616E probably damaging Het
Filip1 T C 9: 79,818,559 E926G probably damaging Het
Fras1 A T 5: 96,728,581 H2391L probably damaging Het
Fry A T 5: 150,326,168 D148V probably damaging Het
Glg1 A T 8: 111,159,902 M1086K probably damaging Het
Gm12185 T A 11: 48,908,037 Y543F probably damaging Het
Gtf3a T C 5: 146,950,639 probably null Het
Hydin A T 8: 110,569,777 Y3646F probably benign Het
Itpr3 A G 17: 27,091,518 D425G probably damaging Het
Lipo3 A C 19: 33,583,040 probably benign Het
Ltbp1 A C 17: 75,225,306 K443T probably damaging Het
Mylk3 A G 8: 85,342,681 I497T probably damaging Het
Nlrp5 A G 7: 23,430,034 D842G probably benign Het
Olfr1087 A G 2: 86,690,028 probably benign Het
Olfr218 T C 1: 173,204,199 V281A probably benign Het
Olfr429 A G 1: 174,089,898 N286S probably damaging Het
Olfr605 A T 7: 103,442,988 V45E possibly damaging Het
Pkd1 A T 17: 24,564,406 I120L probably damaging Het
Ptprc T C 1: 138,093,001 N401S probably damaging Het
Rptn A G 3: 93,398,129 H923R possibly damaging Het
Rrp8 T C 7: 105,734,938 K119R probably benign Het
Setd7 A T 3: 51,532,986 Y211* probably null Het
Sun5 T C 2: 153,871,004 probably benign Het
Tnks A T 8: 34,940,704 V290D probably damaging Het
Trrap C T 5: 144,833,186 P2740L probably benign Het
Ttc23 G T 7: 67,678,897 L195F probably damaging Het
Tubb1 G T 2: 174,457,448 G308C probably damaging Het
Vmn1r217 A T 13: 23,114,640 F31I probably benign Het
Zp1 A T 19: 10,914,461 probably benign Het
Other mutations in Sfxn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02991:Sfxn5 UTSW 6 85289208 missense possibly damaging 0.61
R0513:Sfxn5 UTSW 6 85269973 splice site probably benign
R0734:Sfxn5 UTSW 6 85267865 splice site probably benign
R1510:Sfxn5 UTSW 6 85236925 missense probably damaging 1.00
R1776:Sfxn5 UTSW 6 85267945 splice site probably benign
R2483:Sfxn5 UTSW 6 85332278 critical splice donor site probably null
R3732:Sfxn5 UTSW 6 85299276 intron probably benign
R3732:Sfxn5 UTSW 6 85299276 intron probably benign
R3733:Sfxn5 UTSW 6 85299276 intron probably benign
R4199:Sfxn5 UTSW 6 85215742 missense probably benign 0.44
R4212:Sfxn5 UTSW 6 85332306 nonsense probably null
R4850:Sfxn5 UTSW 6 85332376 unclassified probably benign
R5485:Sfxn5 UTSW 6 85332600 unclassified probably benign
R6193:Sfxn5 UTSW 6 85269936 missense probably damaging 0.98
R6613:Sfxn5 UTSW 6 85269908 critical splice donor site probably null
R6997:Sfxn5 UTSW 6 85256432 missense probably benign 0.25
R7078:Sfxn5 UTSW 6 85332384 missense unknown
R7154:Sfxn5 UTSW 6 85332423 missense unknown
R7406:Sfxn5 UTSW 6 85267907 missense probably damaging 1.00
R8071:Sfxn5 UTSW 6 85267939 critical splice acceptor site probably null
Z1177:Sfxn5 UTSW 6 85229250 missense probably benign 0.37
Posted On2016-08-02