Incidental Mutation 'R9646:Sfxn5'
ID 726725
Institutional Source Beutler Lab
Gene Symbol Sfxn5
Ensembl Gene ENSMUSG00000033720
Gene Name sideroflexin 5
Synonyms C230001H08Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R9646 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 85190031-85310404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85266195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 101 (T101S)
Ref Sequence ENSEMBL: ENSMUSP00000041872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045846] [ENSMUST00000059034]
AlphaFold Q925N0
Predicted Effect probably damaging
Transcript: ENSMUST00000045846
AA Change: T101S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041872
Gene: ENSMUSG00000033720
AA Change: T101S

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Mtc 34 342 2.5e-126 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000059034
AA Change: T101S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054648
Gene: ENSMUSG00000033720
AA Change: T101S

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Mtc 34 292 2.1e-87 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 A T 3: 148,544,926 (GRCm39) I723N probably damaging Het
Agbl1 G A 7: 76,075,648 (GRCm39) R682Q unknown Het
Ankrd42 A T 7: 92,273,257 (GRCm39) D123E possibly damaging Het
Anxa4 A T 6: 86,730,814 (GRCm39) I121N probably damaging Het
Asic1 T C 15: 99,593,414 (GRCm39) F257S probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Cckar T C 5: 53,863,608 (GRCm39) T118A probably benign Het
Cfap61 T A 2: 145,854,152 (GRCm39) I388N probably damaging Het
Chrnd A T 1: 87,120,311 (GRCm39) I156F probably damaging Het
Col15a1 T A 4: 47,257,187 (GRCm39) L326Q possibly damaging Het
Dcpp3 A T 17: 24,138,156 (GRCm39) I105L possibly damaging Het
Dnaaf5 T A 5: 139,151,832 (GRCm39) H494Q probably benign Het
Dph5 T A 3: 115,708,692 (GRCm39) Y125N probably damaging Het
Eif4enif1 T C 11: 3,170,280 (GRCm39) V111A probably damaging Het
Etl4 T A 2: 20,802,724 (GRCm39) I1010K probably benign Het
Faf1 T A 4: 109,652,016 (GRCm39) W236R probably damaging Het
Fat4 A G 3: 39,035,813 (GRCm39) D3155G probably damaging Het
Fhip2b T C 14: 70,827,808 (GRCm39) H125R probably damaging Het
Firrm A G 1: 163,822,195 (GRCm39) V32A probably damaging Het
Galnt12 T C 4: 47,120,390 (GRCm39) I491T probably damaging Het
Gm10553 T A 1: 85,077,901 (GRCm39) L6Q probably damaging Het
H2-T10 A T 17: 36,431,157 (GRCm39) I168N probably damaging Het
Hdac9 T A 12: 34,487,167 (GRCm39) Q78L probably damaging Het
Hmx1 C T 5: 35,549,400 (GRCm39) T231M probably damaging Het
Hrob A T 11: 102,146,586 (GRCm39) Q287H possibly damaging Het
Hsd17b13 T C 5: 104,124,973 (GRCm39) K70R probably null Het
Hykk C T 9: 54,853,521 (GRCm39) T281I probably benign Het
Il1r2 A G 1: 40,162,362 (GRCm39) D335G probably damaging Het
Insig2 A C 1: 121,240,040 (GRCm39) L87V probably damaging Het
Insrr A T 3: 87,721,805 (GRCm39) Y1193F probably damaging Het
Itpr1 A G 6: 108,371,845 (GRCm39) Y1173C probably damaging Het
Kcnh8 A G 17: 53,104,573 (GRCm39) N190S probably benign Het
Kntc1 T C 5: 123,897,119 (GRCm39) F161L probably benign Het
Lilra5 T C 7: 4,244,907 (GRCm39) L226P probably damaging Het
Muc2 C T 7: 141,276,643 (GRCm39) A11V probably benign Het
Nrp2 T C 1: 62,777,566 (GRCm39) F124L probably damaging Het
Or52e4 T C 7: 104,706,374 (GRCm39) I307T probably benign Het
Or5m11b T A 2: 85,806,446 (GRCm39) N286K probably benign Het
Or5w15 T A 2: 87,568,512 (GRCm39) D52V probably damaging Het
Or8c19-ps1 T A 9: 38,220,114 (GRCm39) S8T probably damaging Het
Pcdhb17 A T 18: 37,618,471 (GRCm39) N87I possibly damaging Het
Pdgfrb T A 18: 61,211,721 (GRCm39) probably null Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pepd A T 7: 34,620,882 (GRCm39) Q49L possibly damaging Het
Pigo C A 4: 43,017,967 (GRCm39) R1083L probably damaging Het
Pitpnm1 G A 19: 4,153,269 (GRCm39) D142N probably damaging Het
Plod1 C T 4: 148,016,112 (GRCm39) E93K probably benign Het
Pramel11 A T 4: 143,623,634 (GRCm39) V180E probably damaging Het
Rev3l T C 10: 39,698,440 (GRCm39) I979T probably damaging Het
Scrib C T 15: 75,932,492 (GRCm39) G743D probably damaging Het
Septin3 T C 15: 82,170,088 (GRCm39) S205P probably benign Het
Sez6 A G 11: 77,867,632 (GRCm39) K850E probably damaging Het
Slc6a5 A T 7: 49,567,496 (GRCm39) K317* probably null Het
Sox8 A T 17: 25,786,871 (GRCm39) D277E probably benign Het
Sptbn2 G T 19: 4,795,341 (GRCm39) A1600S probably damaging Het
Syne1 A G 10: 5,179,187 (GRCm39) V4429A possibly damaging Het
Tnrc6b T A 15: 80,773,266 (GRCm39) F1137L possibly damaging Het
Trim43a A G 9: 88,466,392 (GRCm39) R238G probably benign Het
Triobp T C 15: 78,887,934 (GRCm39) L1943P probably damaging Het
Vmn1r125 T C 7: 21,006,261 (GRCm39) V53A possibly damaging Het
Vwa5b1 T A 4: 138,319,420 (GRCm39) N412I probably damaging Het
Yipf7 T A 5: 69,678,424 (GRCm39) T122S probably benign Het
Zfp1005 C T 2: 150,110,104 (GRCm39) H265Y probably benign 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
R7154:Sfxn5 UTSW 6 85,309,405 (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
Z1177:Sfxn5 UTSW 6 85,206,232 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- ACTGGGAGCTTTGAGTGGAC -3'
(R):5'- GAATGAGCACAGTCTTGGGTC -3'

Sequencing Primer
(F):5'- CCTTTGGGATGCCATCAGC -3'
(R):5'- AGCACAGTCTTGGGTCCCATG -3'
Posted On 2022-10-06