Incidental Mutation 'R6626:Sfxn2'
ID524841
Institutional Source Beutler Lab
Gene Symbol Sfxn2
Ensembl Gene ENSMUSG00000025036
Gene Namesideroflexin 2
SynonymsF630107H02Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.311) question?
Stock #R6626 (G1)
Quality Score225.009
Status Validated
Chromosome19
Chromosomal Location46573365-46596898 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 46582528 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 9 (N9I)
Ref Sequence ENSEMBL: ENSMUSP00000026011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026011]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026011
AA Change: N9I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026011
Gene: ENSMUSG00000025036
AA Change: N9I

DomainStartEndE-ValueType
Pfam:Mtc 15 322 9.9e-139 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T C 11: 3,938,056 H110R unknown Het
4932415D10Rik A G 10: 82,292,833 F1448L probably benign Het
Adgrv1 T A 13: 81,518,126 D1937V probably damaging Het
Ank1 T A 8: 22,975,191 L19H probably damaging Het
Bcl9 C T 3: 97,215,396 R29H probably benign Het
Boc A T 16: 44,520,440 I49N possibly damaging Het
C8a T C 4: 104,845,967 I298V probably benign Het
Cacna1s T C 1: 136,094,965 S879P probably damaging Het
Cacna2d3 T C 14: 29,064,186 probably benign Het
Dnm1 A G 2: 32,340,880 I63T probably damaging Het
Flnb C T 14: 7,929,012 R1914C probably damaging Het
Gm9493 A T 19: 23,619,845 K35M possibly damaging Het
Gpld1 T C 13: 24,979,970 S552P probably damaging Het
Hacd1 T A 2: 14,026,944 I243F probably benign Het
Klhdc4 A G 8: 121,820,162 V110A probably benign Het
Krt26 C T 11: 99,329,702 V441M probably benign Het
Muc6 G A 7: 141,639,559 probably benign Het
Nav2 A G 7: 49,594,352 Y2109C probably damaging Het
Ncbp3 T A 11: 73,073,384 S387T possibly damaging Het
Notch2 T G 3: 98,101,605 V513G probably damaging Het
Nt5c1b A T 12: 10,374,837 R128* probably null Het
Olfr1055 C T 2: 86,347,020 V249I possibly damaging Het
Olfr146 A G 9: 39,019,106 V145A possibly damaging Het
Olfr449 A G 6: 42,838,648 M256V probably benign Het
Olig2 T C 16: 91,227,156 S253P unknown Het
Phkb T A 8: 85,922,151 F199I probably damaging Het
Rnf17 A G 14: 56,427,924 T178A possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,579,908 probably benign Homo
Slc16a4 G A 3: 107,301,196 A341T possibly damaging Het
Tank T A 2: 61,650,296 probably benign Het
Tnr A T 1: 159,850,252 Y69F probably damaging Het
Trp53bp1 T C 2: 121,207,803 D1518G probably damaging Het
Txndc16 T C 14: 45,161,335 probably null Het
Ugp2 A G 11: 21,331,028 Y227H probably damaging Het
Vps50 G A 6: 3,551,101 W388* probably null Het
Zfp516 T A 18: 82,988,107 D1045E probably damaging Het
Zscan10 C T 17: 23,605,857 P96S probably damaging Het
Other mutations in Sfxn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Sfxn2 APN 19 46590157 missense probably damaging 0.98
IGL01357:Sfxn2 APN 19 46585773 missense probably damaging 1.00
IGL02306:Sfxn2 APN 19 46590548 missense probably damaging 1.00
IGL02314:Sfxn2 APN 19 46582587 missense possibly damaging 0.54
IGL02510:Sfxn2 APN 19 46588272 missense probably benign 0.39
R1572:Sfxn2 UTSW 19 46582476 splice site probably benign
R2155:Sfxn2 UTSW 19 46591546 splice site probably null
R3547:Sfxn2 UTSW 19 46590196 missense probably damaging 1.00
R3684:Sfxn2 UTSW 19 46591153 missense probably benign 0.05
R4669:Sfxn2 UTSW 19 46585774 missense probably damaging 1.00
R6027:Sfxn2 UTSW 19 46582852 nonsense probably null
R6677:Sfxn2 UTSW 19 46582528 missense possibly damaging 0.82
R7764:Sfxn2 UTSW 19 46585740 missense probably damaging 1.00
X0027:Sfxn2 UTSW 19 46582953 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTCCATCACCATTCATAGGGG -3'
(R):5'- TATGGCACTGGTTCCTCCA -3'

Sequencing Primer
(F):5'- GGAGACCAGTCAGTGTTCTTAACC -3'
(R):5'- TCCAGTCCCTCCCACGAC -3'
Posted On2018-06-22