Incidental Mutation 'R7629:Sfxn1'
ID589561
Institutional Source Beutler Lab
Gene Symbol Sfxn1
Ensembl Gene ENSMUSG00000021474
Gene Namesideroflexin 1
Synonyms2810002O05Rik, A930015P12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7629 (G1)
Quality Score225.009
Status Not validated
Chromosome13
Chromosomal Location54071869-54108342 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 54093022 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 178 (R178C)
Ref Sequence ENSEMBL: ENSMUSP00000021930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021930]
Predicted Effect probably damaging
Transcript: ENSMUST00000021930
AA Change: R178C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021930
Gene: ENSMUSG00000021474
AA Change: R178C

DomainStartEndE-ValueType
Pfam:Mtc 16 322 8.3e-154 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik G A 16: 88,707,405 T168I probably benign Het
2410089E03Rik C T 15: 8,227,067 Q2004* probably null Het
Abtb2 T A 2: 103,683,493 probably null Het
Ankrd10 A T 8: 11,615,769 V277E probably benign Het
Ankrd28 C T 14: 31,715,264 V615I probably benign Het
Aqr G A 2: 114,114,593 P1079L probably damaging Het
Brox G A 1: 183,292,504 A60V probably damaging Het
Copg1 T C 6: 87,894,169 V289A possibly damaging Het
Cyhr1 C T 15: 76,648,186 D241N probably benign Het
D430042O09Rik T C 7: 125,795,250 L192P probably damaging Het
Dido1 T C 2: 180,661,473 N1546S probably benign Het
Dlg5 G A 14: 24,245,212 P80L probably damaging Het
Dmxl1 T A 18: 49,859,270 I361N probably damaging Het
Fan1 T A 7: 64,372,486 N340Y probably damaging Het
Fhod3 T A 18: 24,754,317 D88E probably benign Het
Flywch1 A G 17: 23,755,770 M632T probably benign Het
Henmt1 A G 3: 108,958,597 T213A probably benign Het
Itga9 T C 9: 118,698,446 V555A probably benign Het
Kif13b C T 14: 64,779,335 R1317* probably null Het
Kndc1 A T 7: 139,895,260 E25V probably damaging Het
Lingo2 T A 4: 35,708,675 D435V possibly damaging Het
Lrrc14b T A 13: 74,361,164 M375L probably benign Het
Lrrtm2 T C 18: 35,214,257 probably null Het
Mgat4c G A 10: 102,389,070 V382I probably benign Het
Mpp6 T C 6: 50,196,623 I489T probably benign Het
Muc16 T C 9: 18,566,785 T7075A possibly damaging Het
Myo5b T A 18: 74,627,254 probably null Het
Neb T C 2: 52,273,961 D1995G possibly damaging Het
Nudt9 T C 5: 104,050,694 V75A possibly damaging Het
Olfr1277 C T 2: 111,269,876 V164I probably benign Het
Paf1 T C 7: 28,395,068 Y35H probably damaging Het
Panx3 T A 9: 37,661,444 Q270L possibly damaging Het
Pde6h G T 6: 136,959,319 R20L possibly damaging Het
Pdxk A G 10: 78,445,006 I200T probably benign Het
Ppara A T 15: 85,798,191 M363L probably damaging Het
Prmt8 A T 6: 127,689,883 L376* probably null Het
Serpina1a G C 12: 103,853,808 T393R probably damaging Het
Sirpb1c A T 3: 15,848,395 W7R possibly damaging Het
Skint5 T C 4: 113,942,660 Y104C probably damaging Het
Slamf6 A T 1: 171,936,624 T195S probably damaging Het
Slc2a6 T C 2: 27,024,202 D301G probably benign Het
Stab2 A T 10: 86,883,782 probably null Het
Tctn3 C G 19: 40,611,336 D141H probably damaging Het
Tnik A G 3: 28,661,728 N1164D probably damaging Het
Tpcn1 C T 5: 120,537,937 V711I probably benign Het
Trim11 G A 11: 58,978,334 G32D probably damaging Het
Usp32 TTTGGTTG TTTG 11: 85,019,855 probably null Het
Vmn1r72 T C 7: 11,669,784 I246V probably benign Het
Zfp362 G T 4: 128,786,055 R273S probably damaging Het
Zfp715 T C 7: 43,301,676 D66G possibly damaging Het
Other mutations in Sfxn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Sfxn1 APN 13 54093916 missense probably benign
IGL01775:Sfxn1 APN 13 54105739 splice site probably benign
IGL02536:Sfxn1 APN 13 54085494 missense probably benign
R1467:Sfxn1 UTSW 13 54093871 missense possibly damaging 0.75
R1467:Sfxn1 UTSW 13 54093871 missense possibly damaging 0.75
R1468:Sfxn1 UTSW 13 54085627 splice site probably null
R1468:Sfxn1 UTSW 13 54085627 splice site probably null
R1476:Sfxn1 UTSW 13 54092450 critical splice donor site probably null
R1931:Sfxn1 UTSW 13 54093933 missense probably damaging 0.96
R2224:Sfxn1 UTSW 13 54085517 missense possibly damaging 0.96
R2225:Sfxn1 UTSW 13 54085517 missense possibly damaging 0.96
R2226:Sfxn1 UTSW 13 54085517 missense possibly damaging 0.96
R2288:Sfxn1 UTSW 13 54093957 missense probably benign 0.37
R4655:Sfxn1 UTSW 13 54092438 missense probably benign 0.14
R4989:Sfxn1 UTSW 13 54088914 missense probably benign 0.14
R5064:Sfxn1 UTSW 13 54085569 missense probably benign 0.05
R5950:Sfxn1 UTSW 13 54091287 missense probably benign 0.05
R6046:Sfxn1 UTSW 13 54088942 missense probably benign 0.14
R6170:Sfxn1 UTSW 13 54106507 missense probably benign 0.16
R6267:Sfxn1 UTSW 13 54093880 missense probably benign 0.03
R6296:Sfxn1 UTSW 13 54093880 missense probably benign 0.03
R6322:Sfxn1 UTSW 13 54104850 missense possibly damaging 0.66
R6500:Sfxn1 UTSW 13 54088899 missense probably benign
R6634:Sfxn1 UTSW 13 54093029 missense probably damaging 1.00
R6719:Sfxn1 UTSW 13 54106564 missense probably benign
R7814:Sfxn1 UTSW 13 54091231 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GATTGTCACTGTATGTCCTTGC -3'
(R):5'- CTAGAGACACACCTCTGCTTCG -3'

Sequencing Primer
(F):5'- CTGTATGTCCTTGCCAGAGATACAG -3'
(R):5'- GCTTCGGCCCACTTCAGTAAG -3'
Posted On2019-10-24