Incidental Mutation 'R7154:Sfxn5'
ID 557141
Institutional Source Beutler Lab
Gene Symbol Sfxn5
Ensembl Gene ENSMUSG00000033720
Gene Name sideroflexin 5
Synonyms C230001H08Rik
MMRRC Submission 045256-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R7154 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 85190031-85310404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85309405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 100 (C100Y)
Ref Sequence ENSEMBL: ENSMUSP00000109417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045846] [ENSMUST00000059034] [ENSMUST00000060837] [ENSMUST00000113787] [ENSMUST00000113788] [ENSMUST00000204087]
AlphaFold Q925N0
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: ENSMUST00000060837
SMART Domains Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343

DomainStartEndE-ValueType
C2 20 143 8.7e-7 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
Pfam:RBD-FIP 593 640 5.1e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000113787
AA Change: C100Y
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 probably benign
Transcript: ENSMUST00000204087
SMART Domains Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343

DomainStartEndE-ValueType
C2 20 143 5.8e-9 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
low complexity region 529 547 N/A INTRINSIC
low complexity region 560 568 N/A INTRINSIC
low complexity region 603 627 N/A INTRINSIC
low complexity region 687 692 N/A INTRINSIC
low complexity region 713 732 N/A INTRINSIC
low complexity region 852 887 N/A INTRINSIC
low complexity region 893 901 N/A INTRINSIC
low complexity region 1037 1052 N/A INTRINSIC
low complexity region 1068 1106 N/A INTRINSIC
low complexity region 1115 1149 N/A INTRINSIC
Pfam:RBD-FIP 1266 1313 8.5e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030423J24Rik T C 13: 71,032,344 (GRCm39) F139L unknown Het
Adgre1 G A 17: 57,751,087 (GRCm39) probably null Het
Agap2 A G 10: 126,927,524 (GRCm39) D1135G probably benign Het
Akp3 T C 1: 87,052,946 (GRCm39) L45P probably damaging Het
Arfgap3 A T 15: 83,220,905 (GRCm39) W71R probably damaging Het
Asic3 G A 5: 24,618,660 (GRCm39) probably benign Het
Asph A T 4: 9,630,930 (GRCm39) N139K possibly damaging Het
Atr T A 9: 95,747,098 (GRCm39) C127S probably benign Het
Auts2 A T 5: 131,480,731 (GRCm39) S255T Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Cacnb1 A G 11: 97,895,959 (GRCm39) L443P probably damaging Het
Cbfa2t3 G A 8: 123,364,883 (GRCm39) Q300* probably null Het
Ccer1 A T 10: 97,530,201 (GRCm39) D288V unknown Het
Col18a1 G A 10: 76,908,799 (GRCm39) P611S probably benign Het
Cpa6 T A 1: 10,407,694 (GRCm39) D281V possibly damaging Het
Cyp2e1 A G 7: 140,350,050 (GRCm39) Y245C probably damaging Het
Cyp4a31 T C 4: 115,431,963 (GRCm39) probably null Het
Efcab3 T A 11: 104,589,966 (GRCm39) probably null Het
Entpd1 T C 19: 40,713,430 (GRCm39) Y188H probably damaging Het
Epb42 T C 2: 120,863,843 (GRCm39) D111G probably benign Het
Espl1 A G 15: 102,232,484 (GRCm39) D2064G probably damaging Het
Fat3 A C 9: 15,908,160 (GRCm39) V2614G probably damaging Het
Fos A T 12: 85,520,931 (GRCm39) M40L probably benign Het
Frmd4b T A 6: 97,283,707 (GRCm39) E434V probably damaging Het
Galnt6 A T 15: 100,591,345 (GRCm39) D586E probably benign Het
Gapvd1 T C 2: 34,615,075 (GRCm39) K474R probably damaging Het
Gimap8 T A 6: 48,633,122 (GRCm39) F314I probably damaging Het
Gm14393 T G 2: 174,903,576 (GRCm39) K110N probably damaging Het
Gm4131 C A 14: 62,718,382 (GRCm39) A75S probably damaging Het
Heatr6 G A 11: 83,668,067 (GRCm39) V854I probably benign Het
Hic2 T A 16: 17,076,806 (GRCm39) M545K possibly damaging Het
Ift70b C T 2: 75,768,405 (GRCm39) R116H possibly damaging Het
Ip6k1 A G 9: 107,922,861 (GRCm39) Y331C probably damaging Het
Kalrn C T 16: 34,032,527 (GRCm39) probably null Het
Kxd1 T C 8: 70,968,084 (GRCm39) K88E probably damaging Het
Lrrc37a A C 11: 103,393,682 (GRCm39) V581G probably benign Het
Mex3d A T 10: 80,222,584 (GRCm39) V224E Het
Mtx2 T A 2: 74,706,762 (GRCm39) C246S probably damaging Het
Mybbp1a A G 11: 72,338,468 (GRCm39) probably null Het
Myh6 A G 14: 55,197,764 (GRCm39) I458T probably benign Het
Ndufs6 A G 13: 73,468,411 (GRCm39) V96A possibly damaging Het
Nemf A T 12: 69,363,515 (GRCm39) probably null Het
Notch1 T C 2: 26,349,950 (GRCm39) S2397G probably benign Het
Or4c15b A G 2: 89,113,204 (GRCm39) I91T probably damaging Het
Or6ae1 T C 7: 139,741,997 (GRCm39) I289V probably benign Het
Osbpl1a T C 18: 12,901,649 (GRCm39) E619G probably benign Het
Pfkl T C 10: 77,837,289 (GRCm39) R95G probably benign Het
Plat T A 8: 23,268,521 (GRCm39) I391K possibly damaging Het
Ppp1r21 A G 17: 88,862,314 (GRCm39) H244R probably damaging Het
Rapgef3 G C 15: 97,651,758 (GRCm39) H578Q probably benign Het
Rnf145 C A 11: 44,415,822 (GRCm39) N12K probably damaging Het
Sh3rf1 T A 8: 61,825,748 (GRCm39) L581Q possibly damaging Het
Sipa1l2 T C 8: 126,195,078 (GRCm39) K887E probably benign Het
Spopfm2 A G 3: 94,083,526 (GRCm39) I95T probably benign Het
Stard9 C A 2: 120,531,795 (GRCm39) T2684N probably benign Het
Stard9 A C 2: 120,535,023 (GRCm39) Q3760P probably benign Het
Stpg2 A G 3: 138,921,056 (GRCm39) E87G probably benign Het
Syne2 A G 12: 76,106,231 (GRCm39) Q792R possibly damaging Het
Taf7 T C 18: 37,775,601 (GRCm39) D322G possibly damaging Het
Tbc1d1 A G 5: 64,331,156 (GRCm39) S112G possibly damaging Het
Tbx3 A G 5: 119,810,093 (GRCm39) M5V possibly damaging Het
Tmem45b A T 9: 31,339,328 (GRCm39) I215N possibly damaging Het
Tpd52 G A 3: 9,028,916 (GRCm39) Q43* probably null Het
Trpa1 T A 1: 14,952,457 (GRCm39) N858I possibly damaging Het
Ttll5 A G 12: 85,972,538 (GRCm39) D767G probably damaging Het
Vmn2r3 G A 3: 64,194,732 (GRCm39) T62I probably benign Het
Wdr59 A T 8: 112,185,367 (GRCm39) N874K Het
Other mutations in Sfxn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03404:Sfxn5 APN 6 85,276,518 (GRCm39) splice site probably benign
IGL02991:Sfxn5 UTSW 6 85,266,190 (GRCm39) missense possibly damaging 0.61
R0513:Sfxn5 UTSW 6 85,246,955 (GRCm39) splice site probably benign
R0734:Sfxn5 UTSW 6 85,244,847 (GRCm39) splice site probably benign
R1510:Sfxn5 UTSW 6 85,213,907 (GRCm39) missense probably damaging 1.00
R1776:Sfxn5 UTSW 6 85,244,927 (GRCm39) splice site probably benign
R2483:Sfxn5 UTSW 6 85,309,260 (GRCm39) critical splice donor site probably null
R3732:Sfxn5 UTSW 6 85,276,258 (GRCm39) intron probably benign
R3732:Sfxn5 UTSW 6 85,276,258 (GRCm39) intron probably benign
R3733:Sfxn5 UTSW 6 85,276,258 (GRCm39) intron probably benign
R4199:Sfxn5 UTSW 6 85,192,724 (GRCm39) missense probably benign 0.44
R4212:Sfxn5 UTSW 6 85,309,288 (GRCm39) nonsense probably null
R4850:Sfxn5 UTSW 6 85,309,358 (GRCm39) unclassified probably benign
R5485:Sfxn5 UTSW 6 85,309,582 (GRCm39) unclassified probably benign
R6193:Sfxn5 UTSW 6 85,246,918 (GRCm39) missense probably damaging 0.98
R6613:Sfxn5 UTSW 6 85,246,890 (GRCm39) critical splice donor site probably null
R6997:Sfxn5 UTSW 6 85,233,414 (GRCm39) missense probably benign 0.25
R7078:Sfxn5 UTSW 6 85,309,366 (GRCm39) missense unknown
R7406:Sfxn5 UTSW 6 85,244,889 (GRCm39) missense probably damaging 1.00
R8071:Sfxn5 UTSW 6 85,244,921 (GRCm39) critical splice acceptor site probably null
R8810:Sfxn5 UTSW 6 85,206,182 (GRCm39) missense probably benign 0.44
R8960:Sfxn5 UTSW 6 85,266,176 (GRCm39) missense probably damaging 0.97
R9646:Sfxn5 UTSW 6 85,266,195 (GRCm39) missense probably damaging 1.00
Z1177:Sfxn5 UTSW 6 85,206,232 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- GAATTCGGAACCATTCTCACTTC -3'
(R):5'- CATTCTCCGAAGCTGAGCTC -3'

Sequencing Primer
(F):5'- ATTCGGAACCATTCTCACTTCTAAAC -3'
(R):5'- GAAGCTGAGCTCTCCTCCCAAG -3'
Posted On 2019-06-26