Incidental Mutation 'R3547:Sfxn2'
ID 268280
Institutional Source Beutler Lab
Gene Symbol Sfxn2
Ensembl Gene ENSMUSG00000025036
Gene Name sideroflexin 2
Synonyms F630107H02Rik
MMRRC Submission 040666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R3547 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 46561798-46585340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46578635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 217 (S217P)
Ref Sequence ENSEMBL: ENSMUSP00000026011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026011]
AlphaFold Q925N2
Predicted Effect probably damaging
Transcript: ENSMUST00000026011
AA Change: S217P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026011
Gene: ENSMUSG00000025036
AA Change: S217P

DomainStartEndE-ValueType
Pfam:Mtc 15 322 9.9e-139 PFAM
Meta Mutation Damage Score 0.9347 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg5 A G 3: 54,656,736 (GRCm39) R316G probably benign Het
Anapc1 T C 2: 128,484,602 (GRCm39) N1121D possibly damaging Het
Antxr2 A T 5: 98,125,516 (GRCm39) I247N probably benign Het
Arid5b C T 10: 67,934,292 (GRCm39) G294S probably benign Het
Arl9 A G 5: 77,158,326 (GRCm39) D136G probably benign Het
Atxn1l A G 8: 110,458,981 (GRCm39) L427P possibly damaging Het
Celf3 T G 3: 94,395,845 (GRCm39) C304G probably damaging Het
Clcc1 T A 3: 108,575,429 (GRCm39) C169S probably benign Het
Clec4a3 A G 6: 122,941,239 (GRCm39) E78G probably damaging Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Col12a1 T G 9: 79,540,698 (GRCm39) K2429T probably damaging Het
Col20a1 G T 2: 180,636,704 (GRCm39) E228D probably damaging Het
Cx3cl1 A C 8: 95,504,752 (GRCm39) E56A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fap A C 2: 62,349,355 (GRCm39) L478R probably damaging Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Golga7b T C 19: 42,255,510 (GRCm39) M129T possibly damaging Het
Gpr149 A T 3: 62,502,549 (GRCm39) C436S probably benign Het
Grid2 T C 6: 64,297,005 (GRCm39) V456A probably damaging Het
Gstcd G T 3: 132,790,599 (GRCm39) T56K possibly damaging Het
Hydin G A 8: 111,308,699 (GRCm39) G3995D possibly damaging Het
Igkv4-50 G A 6: 69,677,765 (GRCm39) T113I probably benign Het
Igkv5-43 A G 6: 69,753,240 (GRCm39) probably benign Het
Igsf10 G A 3: 59,237,962 (GRCm39) H740Y probably benign Het
Igsf10 C A 3: 59,243,935 (GRCm39) R133L probably damaging Het
Lcmt1 A G 7: 122,999,702 (GRCm39) E94G probably benign Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Ly6m C A 15: 74,753,463 (GRCm39) A18S probably null Het
Map3k3 C T 11: 106,033,379 (GRCm39) Q211* probably null Het
Map4 T A 9: 109,881,266 (GRCm39) F43L possibly damaging Het
Mcf2 T C X: 59,180,806 (GRCm39) K74R probably damaging Het
Mylk G A 16: 34,700,538 (GRCm39) V460I possibly damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nlrp6 T G 7: 140,506,682 (GRCm39) V849G probably benign Het
Or52b3 A G 7: 102,203,677 (GRCm39) Y62C probably damaging Het
Pi4k2a C T 19: 42,078,987 (GRCm39) P16L probably benign Het
Pitx3 T A 19: 46,124,548 (GRCm39) Q273L possibly damaging Het
Ppp1r27 T A 11: 120,441,511 (GRCm39) I90F probably damaging Het
Prickle2 T C 6: 92,388,118 (GRCm39) Y428C probably damaging Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Prune2 T A 19: 17,101,712 (GRCm39) S2405R probably damaging Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rnf167 T C 11: 70,540,507 (GRCm39) I129T possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Slc22a17 A G 14: 55,144,694 (GRCm39) L573P probably damaging Het
Slc25a45 T C 19: 5,934,574 (GRCm39) Y181H probably damaging Het
Slc6a20a A G 9: 123,489,567 (GRCm39) S159P probably damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Thnsl1 T G 2: 21,217,438 (GRCm39) D397E probably benign Het
Ttn T A 2: 76,575,450 (GRCm39) I25148F probably damaging Het
Ube4b T C 4: 149,419,573 (GRCm39) D1045G probably damaging Het
Ugt8a A T 3: 125,661,031 (GRCm39) L487* probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P probably benign Het
Utp20 T C 10: 88,618,551 (GRCm39) K1150E probably damaging Het
Uty A C Y: 1,158,512 (GRCm39) D463E possibly damaging Het
Vmn1r7 A G 6: 57,001,834 (GRCm39) I142T possibly damaging Het
Vps13d T G 4: 144,801,545 (GRCm39) T3558P probably damaging Het
Zfp319 A G 8: 96,055,445 (GRCm39) S253P probably damaging Het
Zfp831 A G 2: 174,499,476 (GRCm39) S1265G probably benign Het
Other mutations in Sfxn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Sfxn2 APN 19 46,578,596 (GRCm39) missense probably damaging 0.98
IGL01357:Sfxn2 APN 19 46,574,212 (GRCm39) missense probably damaging 1.00
IGL02306:Sfxn2 APN 19 46,578,987 (GRCm39) missense probably damaging 1.00
IGL02314:Sfxn2 APN 19 46,571,026 (GRCm39) missense possibly damaging 0.54
IGL02510:Sfxn2 APN 19 46,576,711 (GRCm39) missense probably benign 0.39
R1572:Sfxn2 UTSW 19 46,570,915 (GRCm39) splice site probably benign
R2155:Sfxn2 UTSW 19 46,579,985 (GRCm39) splice site probably null
R3684:Sfxn2 UTSW 19 46,579,592 (GRCm39) missense probably benign 0.05
R4669:Sfxn2 UTSW 19 46,574,213 (GRCm39) missense probably damaging 1.00
R6027:Sfxn2 UTSW 19 46,571,291 (GRCm39) nonsense probably null
R6626:Sfxn2 UTSW 19 46,570,967 (GRCm39) missense possibly damaging 0.82
R6677:Sfxn2 UTSW 19 46,570,967 (GRCm39) missense possibly damaging 0.82
R7764:Sfxn2 UTSW 19 46,574,179 (GRCm39) missense probably damaging 1.00
R8804:Sfxn2 UTSW 19 46,574,243 (GRCm39) critical splice donor site probably benign
R9461:Sfxn2 UTSW 19 46,574,192 (GRCm39) missense probably damaging 1.00
X0027:Sfxn2 UTSW 19 46,571,392 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCTTCTGAGATACCATCTACTG -3'
(R):5'- AAAGGCATGGATGGACCCAC -3'

Sequencing Primer
(F):5'- ACCAAAGGGCCAGGCTG -3'
(R):5'- ACCAGGAGCCAAGTGCC -3'
Posted On 2015-02-19