Incidental Mutation 'R2224:Sfxn1'
ID 241565
Institutional Source Beutler Lab
Gene Symbol Sfxn1
Ensembl Gene ENSMUSG00000021474
Gene Name sideroflexin 1
Synonyms A930015P12Rik, 2810002O05Rik
MMRRC Submission 040225-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2224 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 54225888-54262361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54239536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 20 (T20A)
Ref Sequence ENSEMBL: ENSMUSP00000021930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021930]
AlphaFold Q99JR1
Predicted Effect possibly damaging
Transcript: ENSMUST00000021930
AA Change: T20A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021930
Gene: ENSMUSG00000021474
AA Change: T20A

DomainStartEndE-ValueType
Pfam:Mtc 16 322 8.3e-154 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223504
Meta Mutation Damage Score 0.7148 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T G 16: 14,289,932 (GRCm39) L1416R probably damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Ahnak G A 19: 8,990,355 (GRCm39) probably benign Het
Ar T A X: 97,194,937 (GRCm39) M517K probably benign Het
Arsb T A 13: 93,930,679 (GRCm39) F216I probably damaging Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
Brinp3 C T 1: 146,777,658 (GRCm39) Q702* probably null Het
Btbd9 C A 17: 30,746,320 (GRCm39) A169S probably damaging Het
Cacna1h T C 17: 25,604,917 (GRCm39) N1132S probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Cep250 A C 2: 155,833,737 (GRCm39) E1886D possibly damaging Het
Chd9 A C 8: 91,737,913 (GRCm39) H1515P probably benign Het
Cyp2c68 A G 19: 39,724,026 (GRCm39) C213R probably benign Het
Ddx41 G A 13: 55,679,214 (GRCm39) T544I probably damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Eea1 T A 10: 95,855,874 (GRCm39) V637D probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Exo1 A G 1: 175,714,254 (GRCm39) probably null Het
Fbxo21 T G 5: 118,146,188 (GRCm39) Y597D probably damaging Het
Fbxw20 G C 9: 109,062,650 (GRCm39) Q59E possibly damaging Het
Fpr3 T A 17: 18,191,455 (GRCm39) V242D probably damaging Het
Fyb1 A G 15: 6,681,864 (GRCm39) Y737C probably damaging Het
Gm17661 GG GGG 2: 90,748,052 (GRCm39) noncoding transcript Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Il17f A G 1: 20,849,599 (GRCm39) V55A probably damaging Het
Inpp1 T A 1: 52,829,290 (GRCm39) E243V probably benign Het
Leap2 A G 11: 53,313,634 (GRCm39) L46P probably damaging Het
Map4k3 A T 17: 80,937,883 (GRCm39) D339E probably benign Het
Met A G 6: 17,563,721 (GRCm39) probably null Het
Mgam G T 6: 40,741,208 (GRCm39) probably null Het
Mrgpra1 A G 7: 46,984,854 (GRCm39) V275A possibly damaging Het
Mrgprx2 T A 7: 48,132,608 (GRCm39) Q70L probably benign Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Mup18 G T 4: 61,590,128 (GRCm39) F133L possibly damaging Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Nin A T 12: 70,108,004 (GRCm39) I196N probably damaging Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Odc1 A G 12: 17,597,336 (GRCm39) I13V probably benign Het
Or1ad1 T C 11: 50,876,059 (GRCm39) F177S probably damaging Het
Or4a67 A T 2: 88,597,930 (GRCm39) M243K possibly damaging Het
Or5m12 T A 2: 85,735,099 (GRCm39) I100F probably benign Het
Pard3 A G 8: 128,086,257 (GRCm39) I286V probably damaging Het
Pcx T C 19: 4,668,026 (GRCm39) I516T possibly damaging Het
Ppp1r9a G T 6: 5,154,074 (GRCm39) R1081L probably benign Het
Prpf40b C T 15: 99,201,172 (GRCm39) probably benign Het
Rnmt C T 18: 68,438,854 (GRCm39) probably benign Het
Saxo5 A G 8: 3,529,249 (GRCm39) T245A probably benign Het
Sirt2 A G 7: 28,471,637 (GRCm39) probably null Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Spin2g A T X: 33,656,599 (GRCm39) I171N possibly damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tsbp1 C A 17: 34,667,737 (GRCm39) probably null Het
Uqcrc2 T A 7: 120,240,937 (GRCm39) V73E probably damaging Het
Vmn2r100 A G 17: 19,742,634 (GRCm39) K336R probably benign Het
Vmn2r108 A T 17: 20,701,295 (GRCm39) Y68* probably null Het
Zbtb4 C T 11: 69,667,184 (GRCm39) T163I probably benign Het
Other mutations in Sfxn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Sfxn1 APN 13 54,247,935 (GRCm39) missense probably benign
IGL01775:Sfxn1 APN 13 54,259,758 (GRCm39) splice site probably benign
IGL02536:Sfxn1 APN 13 54,239,513 (GRCm39) missense probably benign
R1467:Sfxn1 UTSW 13 54,247,890 (GRCm39) missense possibly damaging 0.75
R1467:Sfxn1 UTSW 13 54,247,890 (GRCm39) missense possibly damaging 0.75
R1468:Sfxn1 UTSW 13 54,239,646 (GRCm39) splice site probably null
R1468:Sfxn1 UTSW 13 54,239,646 (GRCm39) splice site probably null
R1476:Sfxn1 UTSW 13 54,246,469 (GRCm39) critical splice donor site probably null
R1931:Sfxn1 UTSW 13 54,247,952 (GRCm39) missense probably damaging 0.96
R2225:Sfxn1 UTSW 13 54,239,536 (GRCm39) missense possibly damaging 0.96
R2226:Sfxn1 UTSW 13 54,239,536 (GRCm39) missense possibly damaging 0.96
R2288:Sfxn1 UTSW 13 54,247,976 (GRCm39) missense probably benign 0.37
R4655:Sfxn1 UTSW 13 54,246,457 (GRCm39) missense probably benign 0.14
R4989:Sfxn1 UTSW 13 54,242,933 (GRCm39) missense probably benign 0.14
R5064:Sfxn1 UTSW 13 54,239,588 (GRCm39) missense probably benign 0.05
R5950:Sfxn1 UTSW 13 54,245,306 (GRCm39) missense probably benign 0.05
R6046:Sfxn1 UTSW 13 54,242,961 (GRCm39) missense probably benign 0.14
R6170:Sfxn1 UTSW 13 54,260,526 (GRCm39) missense probably benign 0.16
R6267:Sfxn1 UTSW 13 54,247,899 (GRCm39) missense probably benign 0.03
R6296:Sfxn1 UTSW 13 54,247,899 (GRCm39) missense probably benign 0.03
R6322:Sfxn1 UTSW 13 54,258,869 (GRCm39) missense possibly damaging 0.66
R6500:Sfxn1 UTSW 13 54,242,918 (GRCm39) missense probably benign
R6634:Sfxn1 UTSW 13 54,247,048 (GRCm39) missense probably damaging 1.00
R6719:Sfxn1 UTSW 13 54,260,583 (GRCm39) missense probably benign
R7629:Sfxn1 UTSW 13 54,247,041 (GRCm39) missense probably damaging 1.00
R7814:Sfxn1 UTSW 13 54,245,250 (GRCm39) missense possibly damaging 0.93
R8905:Sfxn1 UTSW 13 54,246,433 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACGTAGGTTTGGAATGCAGGC -3'
(R):5'- TAAGCTGGGAAATGTAGCGCC -3'

Sequencing Primer
(F):5'- TTTGGAATGCAGGCCACCAC -3'
(R):5'- TACCTGTAGTCATGCACC -3'
Posted On 2014-10-15