Incidental Mutation 'R3949:Sfxn4'
ID 307844
Institutional Source Beutler Lab
Gene Symbol Sfxn4
Ensembl Gene ENSMUSG00000063698
Gene Name sideroflexin 4
Synonyms
MMRRC Submission 040929-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3949 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 60825715-60849917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60840501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 165 (Y165H)
Ref Sequence ENSEMBL: ENSMUSP00000118743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080806] [ENSMUST00000124921] [ENSMUST00000135808]
AlphaFold Q925N1
Predicted Effect probably benign
Transcript: ENSMUST00000080806
Predicted Effect probably benign
Transcript: ENSMUST00000124921
Predicted Effect probably damaging
Transcript: ENSMUST00000135808
AA Change: Y165H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118743
Gene: ENSMUSG00000063698
AA Change: Y165H

DomainStartEndE-ValueType
Pfam:Mtc 11 313 2.1e-67 PFAM
Meta Mutation Damage Score 0.2653 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A T 13: 8,620,455 (GRCm39) M314L probably damaging Het
Apcs A G 1: 172,722,259 (GRCm39) F29S probably damaging Het
Arfgef1 CAGAG CAG 1: 10,212,811 (GRCm39) probably null Het
Avl9 T C 6: 56,705,650 (GRCm39) probably null Het
Ccdc38 A G 10: 93,386,081 (GRCm39) M66V probably damaging Het
Cfap46 T C 7: 139,258,467 (GRCm39) K269E probably benign Het
Chrdl2 A C 7: 99,678,412 (GRCm39) E328A possibly damaging Het
D430041D05Rik T C 2: 104,087,713 (GRCm39) N421S probably benign Het
Dbndd1 G T 8: 124,233,473 (GRCm39) Q207K probably benign Het
Disc1 A G 8: 125,814,874 (GRCm39) E246G probably damaging Het
Dyrk4 A G 6: 126,862,268 (GRCm39) I408T probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Fan1 C A 7: 64,021,292 (GRCm39) E591* probably null Het
Fpr1 C A 17: 18,097,191 (GRCm39) C266F probably benign Het
Gata4 C T 14: 63,478,146 (GRCm39) R151H possibly damaging Het
Gipr T C 7: 18,891,354 (GRCm39) N441S probably benign Het
Ino80d G T 1: 63,113,662 (GRCm39) Q263K probably benign Het
Ipo13 A G 4: 117,758,239 (GRCm39) I708T probably benign Het
Iqsec3 A T 6: 121,364,783 (GRCm39) Y835* probably null Het
Kctd8 C T 5: 69,498,617 (GRCm39) G10S probably benign Het
Lamb1 A C 12: 31,332,648 (GRCm39) K257Q probably damaging Het
Lcp1 A G 14: 75,443,569 (GRCm39) N195S possibly damaging Het
Or4k48 A T 2: 111,475,871 (GRCm39) I157K possibly damaging Het
Or5b121 T C 19: 13,507,384 (GRCm39) S160P probably damaging Het
Paxbp1 T C 16: 90,840,905 (GRCm39) D113G probably damaging Het
Pcdhb7 T C 18: 37,476,141 (GRCm39) S426P probably benign Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pkd1 T A 17: 24,797,011 (GRCm39) probably benign Het
Pld2 A G 11: 70,444,180 (GRCm39) D492G probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrf1 A C 9: 89,863,797 (GRCm39) probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Serpinb10 T A 1: 107,468,636 (GRCm39) L170H probably damaging Het
Slc32a1 C T 2: 158,453,152 (GRCm39) probably benign Het
Slco5a1 A T 1: 13,059,833 (GRCm39) V296D probably damaging Het
Syn2 T A 6: 115,204,290 (GRCm39) probably null Het
Tbx2 C T 11: 85,729,101 (GRCm39) Q495* probably null Het
Trav6-1 G A 14: 52,875,993 (GRCm39) V8M probably benign Het
Usp7 A T 16: 8,534,428 (GRCm39) N46K probably damaging Het
Vmn2r58 A T 7: 41,513,348 (GRCm39) F432I probably benign Het
Vmn2r99 T C 17: 19,599,252 (GRCm39) M312T probably benign Het
Washc2 T C 6: 116,185,165 (GRCm39) probably benign Het
Yju2b A G 8: 84,985,453 (GRCm39) V272A probably benign Het
Other mutations in Sfxn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Sfxn4 APN 19 60,839,452 (GRCm39) missense possibly damaging 0.91
IGL01567:Sfxn4 APN 19 60,842,336 (GRCm39) missense probably damaging 1.00
IGL01829:Sfxn4 APN 19 60,847,172 (GRCm39) missense probably damaging 1.00
IGL01903:Sfxn4 APN 19 60,847,118 (GRCm39) missense probably damaging 0.99
IGL01965:Sfxn4 APN 19 60,847,182 (GRCm39) splice site probably benign
IGL03290:Sfxn4 APN 19 60,848,508 (GRCm39) missense probably damaging 1.00
R0346:Sfxn4 UTSW 19 60,847,111 (GRCm39) missense probably benign 0.01
R0550:Sfxn4 UTSW 19 60,839,383 (GRCm39) splice site probably benign
R2228:Sfxn4 UTSW 19 60,839,458 (GRCm39) missense probably damaging 1.00
R2229:Sfxn4 UTSW 19 60,839,458 (GRCm39) missense probably damaging 1.00
R5074:Sfxn4 UTSW 19 60,839,450 (GRCm39) missense probably damaging 1.00
R6534:Sfxn4 UTSW 19 60,827,461 (GRCm39) missense probably damaging 1.00
R7120:Sfxn4 UTSW 19 60,840,477 (GRCm39) nonsense probably null
R7375:Sfxn4 UTSW 19 60,847,112 (GRCm39) missense probably benign 0.38
R7438:Sfxn4 UTSW 19 60,845,799 (GRCm39) missense probably damaging 0.99
R7440:Sfxn4 UTSW 19 60,830,642 (GRCm39) missense possibly damaging 0.92
R7479:Sfxn4 UTSW 19 60,847,112 (GRCm39) missense possibly damaging 0.74
R7577:Sfxn4 UTSW 19 60,842,324 (GRCm39) missense probably benign 0.21
R7883:Sfxn4 UTSW 19 60,847,187 (GRCm39) splice site probably null
R8058:Sfxn4 UTSW 19 60,832,690 (GRCm39) missense probably damaging 0.99
R9335:Sfxn4 UTSW 19 60,839,494 (GRCm39) missense probably damaging 1.00
R9523:Sfxn4 UTSW 19 60,845,807 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGCAGGCTACAATGGTACTG -3'
(R):5'- TCTGGCTTTAACCTAGCTCTGAG -3'

Sequencing Primer
(F):5'- GTACTGTCACAGGTCACTACATGG -3'
(R):5'- GGCTTTAACCTAGCTCTGAGACTATG -3'
Posted On 2015-04-17