Incidental Mutation 'R1510:Sfxn5'
ID167843
Institutional Source Beutler Lab
Gene Symbol Sfxn5
Ensembl Gene ENSMUSG00000033720
Gene Namesideroflexin 5
Synonyms
MMRRC Submission 039557-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #R1510 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location85213049-85333422 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 85236925 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 221 (M221R)
Ref Sequence ENSEMBL: ENSMUSP00000054648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045846] [ENSMUST00000059034]
Predicted Effect probably damaging
Transcript: ENSMUST00000045846
AA Change: M221R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041872
Gene: ENSMUSG00000033720
AA Change: M221R

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: M221R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054648
Gene: ENSMUSG00000033720
AA Change: M221R

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Mtc 34 292 2.1e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134392
Meta Mutation Damage Score 0.9498 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A T 12: 55,304,212 Q102L probably benign Het
1700001L19Rik T A 13: 68,597,477 M1K probably null Het
Abcd2 A G 15: 91,188,978 L326S probably damaging Het
Adam18 T A 8: 24,625,831 T616S probably benign Het
Adam22 T C 5: 8,152,408 K215E probably benign Het
Ahi1 T G 10: 20,959,800 S11A probably benign Het
Asb18 T C 1: 89,996,254 M96V possibly damaging Het
Baz2b T C 2: 59,922,209 D1149G probably damaging Het
C1qtnf3 A G 15: 10,975,636 E176G probably benign Het
Cd151 T A 7: 141,470,367 S172T probably benign Het
Cdh2 G T 18: 16,648,594 L90I probably benign Het
Cdkl3 T C 11: 52,033,514 V55A possibly damaging Het
Chst8 T A 7: 34,675,268 H382L probably benign Het
Cyb5r4 T C 9: 87,066,643 probably benign Het
Cyp2j13 T C 4: 96,061,972 D264G possibly damaging Het
Daam1 A G 12: 71,977,726 M814V probably damaging Het
Ddx19b A G 8: 111,015,653 I150T probably damaging Het
Dync1li1 T G 9: 114,689,210 S50A possibly damaging Het
Fat3 A T 9: 15,960,055 L3680Q probably damaging Het
Fermt1 C T 2: 132,925,022 E342K probably benign Het
Gm21286 T G 4: 60,838,932 noncoding transcript Het
Il6 T C 5: 30,018,062 Y126H probably damaging Het
Inhba G T 13: 16,027,022 V390L probably damaging Het
Ino80 C T 2: 119,450,049 R278H probably damaging Het
Jade3 T G X: 20,517,818 N799K probably benign Het
Kcnn1 G A 8: 70,864,070 probably benign Het
Klhl6 T C 16: 19,947,098 T585A probably damaging Het
Kmt2d T A 15: 98,856,377 probably benign Het
Krt17 C T 11: 100,257,539 E359K possibly damaging Het
Lce1b T G 3: 92,655,976 R83S unknown Het
Lck T C 4: 129,555,668 S290G possibly damaging Het
Ltbp3 T C 19: 5,748,887 S544P probably benign Het
Lypd6b T A 2: 49,934,819 S4R probably damaging Het
Macf1 T C 4: 123,434,762 D4724G probably null Het
Mcoln2 A G 3: 146,176,610 T255A probably benign Het
Mcph1 T A 8: 18,632,687 probably null Het
Mki67 C A 7: 135,696,171 R2378L probably benign Het
Mxd1 A G 6: 86,653,155 V27A possibly damaging Het
Myo5a T C 9: 75,171,551 Y864H probably benign Het
Ndel1 A T 11: 68,822,656 N318K possibly damaging Het
Oasl1 A G 5: 114,928,108 Q95R probably benign Het
Olfr1052 T C 2: 86,298,371 L185P probably damaging Het
Olfr1415 A T 1: 92,491,617 I46N probably damaging Het
Olfr198 A T 16: 59,202,183 M81K probably damaging Het
Olfr480 T C 7: 108,066,528 Y60C probably damaging Het
Parp10 T A 15: 76,241,417 Q487L probably damaging Het
Pcdh10 C T 3: 45,379,403 R51C probably damaging Het
Pdpr A T 8: 111,124,475 probably benign Het
Pfpl A T 19: 12,429,696 D437V probably benign Het
Pik3c2a G A 7: 116,388,045 T547I probably benign Het
Pkdrej A C 15: 85,816,762 S1658A possibly damaging Het
Pkn3 T C 2: 30,079,764 probably null Het
Plekhh2 A G 17: 84,559,576 probably null Het
Plxdc1 A T 11: 97,932,324 C357S probably damaging Het
Pnp A G 14: 50,950,585 T132A possibly damaging Het
Rcan2 A G 17: 43,836,424 D51G probably damaging Het
Rcn1 T C 2: 105,389,089 N253S probably damaging Het
Rreb1 T A 13: 37,931,884 I1073N probably benign Het
Scaf4 G T 16: 90,245,394 D686E unknown Het
Slc38a1 A G 15: 96,609,860 F104L probably damaging Het
Slc8a1 A T 17: 81,648,118 V497D probably damaging Het
Spryd3 C A 15: 102,118,961 G290C probably damaging Het
Stc2 A T 11: 31,365,418 Y140* probably null Het
Stfa2 A T 16: 36,408,311 I8K possibly damaging Het
Sult3a2 A T 10: 33,782,030 M29K probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Triobp G A 15: 79,003,767 R1908Q probably damaging Het
Trpm2 T A 10: 77,966,994 R7* probably null Het
Ttn T C 2: 76,952,157 I912V probably benign Het
Tusc2 T A 9: 107,564,881 V93E probably damaging Het
Uhrf2 T A 19: 30,039,061 probably benign Het
Umodl1 G A 17: 30,959,229 V60M probably damaging Het
Ush2a A T 1: 188,648,304 D2270V probably damaging Het
Vmn2r80 A G 10: 79,169,719 T397A possibly damaging Het
Wbp2 A G 11: 116,086,882 V15A probably benign Het
Zfp182 T A X: 21,030,207 R617W probably damaging Het
Zfp82 C A 7: 30,056,622 R345L probably damaging Het
Zfp85 T C 13: 67,754,965 probably benign Het
Other mutations in Sfxn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03404:Sfxn5 APN 6 85299536 splice site probably benign
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
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
R8810:Sfxn5 UTSW 6 85229200 missense probably benign 0.44
R8960:Sfxn5 UTSW 6 85289194 missense probably damaging 0.97
Z1177:Sfxn5 UTSW 6 85229250 missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- TCTCACAGATGAGCGATGGCAAC -3'
(R):5'- TGCCCCGGCTGAAAGCAAAATAG -3'

Sequencing Primer
(F):5'- AAGCCAAGGTCCTGTGAC -3'
(R):5'- CAAAATAGAGGACTCTACCTTTCTGG -3'
Posted On2014-04-13