Incidental Mutation 'R4212:Sfxn5'
ID319241
Institutional Source Beutler Lab
Gene Symbol Sfxn5
Ensembl Gene ENSMUSG00000033720
Gene Namesideroflexin 5
Synonyms
MMRRC Submission 041641-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R4212 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location85213049-85333422 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 85332306 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 139 (L139*)
Ref Sequence ENSEMBL: ENSMUSP00000109417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045846] [ENSMUST00000059034] [ENSMUST00000060837] [ENSMUST00000113787] [ENSMUST00000113788] [ENSMUST00000204087]
Predicted Effect probably benign
Transcript: ENSMUST00000045846
SMART Domains Protein: ENSMUSP00000041872
Gene: ENSMUSG00000033720

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Mtc 34 342 2.5e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059034
SMART Domains Protein: ENSMUSP00000054648
Gene: ENSMUSG00000033720

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Mtc 34 292 2.1e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060837
SMART Domains Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343

DomainStartEndE-ValueType
C2 20 143 8.7e-7 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
Pfam:RBD-FIP 593 640 5.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102058
Predicted Effect probably null
Transcript: ENSMUST00000113787
AA Change: L139*
Predicted Effect probably benign
Transcript: ENSMUST00000113788
SMART Domains Protein: ENSMUSP00000109418
Gene: ENSMUSG00000033720

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Mtc 34 89 6.7e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203035
Predicted Effect probably benign
Transcript: ENSMUST00000204087
SMART Domains Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343

DomainStartEndE-ValueType
C2 20 143 5.8e-9 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
low complexity region 529 547 N/A INTRINSIC
low complexity region 560 568 N/A INTRINSIC
low complexity region 603 627 N/A INTRINSIC
low complexity region 687 692 N/A INTRINSIC
low complexity region 713 732 N/A INTRINSIC
low complexity region 852 887 N/A INTRINSIC
low complexity region 893 901 N/A INTRINSIC
low complexity region 1037 1052 N/A INTRINSIC
low complexity region 1068 1106 N/A INTRINSIC
low complexity region 1115 1149 N/A INTRINSIC
Pfam:RBD-FIP 1266 1313 8.5e-20 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik C T 13: 58,381,991 G269E probably damaging Het
A1bg G T 15: 60,919,736 L284M possibly damaging Het
Adamts15 A G 9: 30,906,174 V536A probably damaging Het
AI464131 T C 4: 41,498,307 E441G probably benign Het
Arsi A T 18: 60,916,701 I219F probably damaging Het
Atg7 G A 6: 114,703,425 G447E probably benign Het
Bdp1 T A 13: 100,059,585 H1223L probably benign Het
Cep152 A G 2: 125,620,001 M87T probably benign Het
Chrm3 T C 13: 9,877,755 D415G probably benign Het
Chrnb2 A T 3: 89,761,544 C155S probably damaging Het
Col6a4 T A 9: 106,075,370 Q443L probably benign Het
D5Ertd579e A T 5: 36,614,479 D857E probably damaging Het
Efcab6 T C 15: 83,892,863 D1124G probably damaging Het
F830045P16Rik C T 2: 129,460,353 A440T probably benign Het
Gc T C 5: 89,435,575 K370E probably benign Het
Gm11559 A G 11: 99,864,900 Q125R unknown Het
Gm3985 A T 8: 32,942,456 noncoding transcript Het
Gm648 C T X: 56,545,208 V78I probably benign Het
Gm8765 C T 13: 50,700,352 T82I possibly damaging Het
Gucy2e A G 11: 69,228,123 F681S probably damaging Het
Hip1r A G 5: 123,999,890 I760V probably benign Het
Islr2 C T 9: 58,199,320 G219D probably damaging Het
Itgae A G 11: 73,119,352 H556R probably benign Het
Jag1 T C 2: 137,085,070 D923G probably benign Het
Kmt2c A G 5: 25,347,359 probably null Het
Kmt2d A G 15: 98,845,003 probably benign Het
Krtap17-1 A G 11: 99,993,914 L9P unknown Het
Lats2 C T 14: 57,696,255 D802N possibly damaging Het
Lrfn5 A T 12: 61,843,820 T632S probably benign Het
Myo9a C T 9: 59,906,066 R2183* probably null Het
Naip1 T C 13: 100,426,875 probably null Het
Nf1 T A 11: 79,469,798 V1434E probably damaging Het
Nlrc4 T C 17: 74,447,115 Y91C possibly damaging Het
Olfr1454 T G 19: 13,063,759 M116R probably damaging Het
Olfr173 T A 16: 58,797,369 H159L possibly damaging Het
Olfr723 A T 14: 49,928,889 Y218* probably null Het
Pard3 T A 8: 127,610,458 I1143K probably benign Het
Pcdha7 A G 18: 36,974,974 T351A probably benign Het
Phf2 C A 13: 48,820,613 G318V unknown Het
Plch1 T A 3: 63,870,759 probably benign Het
Polr1c A G 17: 46,246,120 I79T probably damaging Het
Ppp2r5e A G 12: 75,469,551 I244T probably damaging Het
Psmd12 T C 11: 107,485,759 C74R probably damaging Het
Ralgapa1 A G 12: 55,739,330 probably null Het
Robo3 C T 9: 37,421,898 G781D probably damaging Het
Scn8a T C 15: 100,957,073 V147A possibly damaging Het
Sema3b C T 9: 107,603,398 V117M probably damaging Het
Slc2a12 A T 10: 22,702,094 K596N probably benign Het
Sorcs1 G A 19: 50,225,175 R705C probably damaging Het
Tlr4 T A 4: 66,840,326 I452N probably damaging Het
Tshz3 A G 7: 36,770,119 D511G probably damaging Het
Usp44 A G 10: 93,846,770 K314E possibly damaging 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
R1510:Sfxn5 UTSW 6 85236925 missense probably damaging 1.00
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
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
Z1177:Sfxn5 UTSW 6 85229250 missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- GGCATTTTACACTAGCTGGGAC -3'
(R):5'- TTAACCTTACTTGGGGACACGC -3'

Sequencing Primer
(F):5'- GATTCCTCCATGCAGAGACATGTC -3'
(R):5'- TGGGGACACGCCAACCC -3'
Posted On2015-06-10