Incidental Mutation 'R7479:Sfxn4'
ID 579707
Institutional Source Beutler Lab
Gene Symbol Sfxn4
Ensembl Gene ENSMUSG00000063698
Gene Name sideroflexin 4
Synonyms
MMRRC Submission 045553-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7479 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 60825715-60849917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60847112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 57 (D57V)
Ref Sequence ENSEMBL: ENSMUSP00000118743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080806] [ENSMUST00000124921] [ENSMUST00000135808]
AlphaFold Q925N1
Predicted Effect possibly damaging
Transcript: ENSMUST00000080806
AA Change: D57V

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000124921
AA Change: D57V

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000135808
AA Change: D57V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118743
Gene: ENSMUSG00000063698
AA Change: D57V

DomainStartEndE-ValueType
Pfam:Mtc 11 313 2.1e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,142 (GRCm39) M81L probably benign Het
Ano9 T C 7: 140,682,348 (GRCm39) T667A probably damaging Het
Anpep T A 7: 79,485,118 (GRCm39) I623F probably benign Het
Apba2 T C 7: 64,389,607 (GRCm39) I501T possibly damaging Het
Ascc3 T A 10: 50,525,895 (GRCm39) Y536N probably damaging Het
B4galt1 T C 4: 40,823,587 (GRCm39) Y168C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C2 A G 17: 35,082,441 (GRCm39) C647R probably damaging Het
Cnot4 G A 6: 35,001,083 (GRCm39) T604I probably benign Het
Col11a1 C T 3: 113,896,218 (GRCm39) T506I unknown Het
Cr2 A C 1: 194,840,718 (GRCm39) probably null Het
Ctsm A T 13: 61,685,569 (GRCm39) V281D probably damaging Het
Cyp2c69 T C 19: 39,870,001 (GRCm39) I74V probably benign Het
Dennd4c T A 4: 86,717,590 (GRCm39) V529D probably damaging Het
Dlgap3 C A 4: 127,088,418 (GRCm39) H5N possibly damaging Het
Dusp10 C A 1: 183,769,617 (GRCm39) H194Q probably damaging Het
Eln C G 5: 134,736,429 (GRCm39) G753A unknown Het
Emb T A 13: 117,385,962 (GRCm39) N118K possibly damaging Het
Fam184a C T 10: 53,531,110 (GRCm39) V755I probably benign Het
Fryl A G 5: 73,254,904 (GRCm39) I846T possibly damaging Het
Gabbr2 T A 4: 46,681,166 (GRCm39) I722F probably damaging Het
Gabrb3 T A 7: 57,474,171 (GRCm39) D362E possibly damaging Het
Galnt2 G A 8: 125,061,077 (GRCm39) G357D probably damaging Het
Gbx2 A T 1: 89,858,373 (GRCm39) S35R probably benign Het
Glg1 A G 8: 111,924,367 (GRCm39) I207T possibly damaging Het
Gm10192 A T 4: 97,071,272 (GRCm39) N44K unknown Het
Gpd1 A G 15: 99,617,984 (GRCm39) D123G probably benign Het
Grm2 A T 9: 106,531,050 (GRCm39) D146E possibly damaging Het
Gsg1l2 A G 11: 67,676,032 (GRCm39) D132G probably benign Het
Hecw1 C T 13: 14,515,425 (GRCm39) G236R probably damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Hspg2 C T 4: 137,266,714 (GRCm39) A1934V probably benign Het
Il7r C T 15: 9,513,117 (GRCm39) A131T probably damaging Het
Itga6 C T 2: 71,668,680 (GRCm39) R540* probably null Het
Kcnh2 A G 5: 24,530,490 (GRCm39) probably null Het
Kcnq4 C T 4: 120,573,022 (GRCm39) A260T probably damaging Het
Lrp1b T C 2: 40,691,517 (GRCm39) N3434S Het
Lrrc41 C T 4: 115,946,238 (GRCm39) P318S probably damaging Het
Map4 G A 9: 109,897,892 (GRCm39) G873R possibly damaging Het
Med24 A G 11: 98,595,787 (GRCm39) I968T possibly damaging Het
Mfap5 T C 6: 122,503,821 (GRCm39) probably null Het
Mtcl1 A G 17: 66,686,485 (GRCm39) V807A probably benign Het
Mug1 T A 6: 121,855,467 (GRCm39) S934T possibly damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Nkx2-4 T C 2: 146,926,088 (GRCm39) E258G probably benign Het
Polr1a T A 6: 71,913,281 (GRCm39) V545E probably damaging Het
Ppp1r9b A G 11: 94,882,858 (GRCm39) D162G possibly damaging Het
Rhot2 A G 17: 26,059,723 (GRCm39) L367P probably damaging Het
Ripk2 A G 4: 16,155,154 (GRCm39) F122L probably benign Het
Scn11a T C 9: 119,588,941 (GRCm39) T1322A probably benign Het
Scn8a T A 15: 100,853,358 (GRCm39) L115Q probably damaging Het
Sel1l3 G T 5: 53,274,462 (GRCm39) P1006Q probably damaging Het
Septin11 A T 5: 93,304,804 (GRCm39) N207I probably damaging Het
Sez6l2 C T 7: 126,562,831 (GRCm39) T669I probably damaging Het
Smarca2 T A 19: 26,617,887 (GRCm39) V306D probably benign Het
Srgap3 C T 6: 112,712,794 (GRCm39) probably null Het
Tas2r134 T C 2: 51,517,541 (GRCm39) F7L not run Het
Tbcd T C 11: 121,383,431 (GRCm39) probably null Het
Tcn2 G A 11: 3,867,703 (GRCm39) A413V probably damaging Het
Tdp1 T C 12: 99,857,654 (GRCm39) V71A probably benign Het
Tjp1 T C 7: 64,950,928 (GRCm39) T1649A probably damaging Het
Tnc T C 4: 63,935,865 (GRCm39) E357G possibly damaging Het
Tnrc6b A G 15: 80,773,327 (GRCm39) T1158A probably benign Het
Ttn C A 2: 76,568,952 (GRCm39) E27314* probably null Het
Vps35 G T 8: 85,997,434 (GRCm39) T512K probably benign Het
Zfp40 A T 17: 23,396,292 (GRCm39) S98R probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp945 A T 17: 23,070,340 (GRCm39) C541S possibly damaging Het
Zfp976 T A 7: 42,262,603 (GRCm39) E412D 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
R3949:Sfxn4 UTSW 19 60,840,501 (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
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'- TGCTCTAGCTGCATTATGAGATAG -3'
(R):5'- GGAACTGAAGTGCTGTGTGC -3'

Sequencing Primer
(F):5'- TGATTCCCCTGGGCAATA -3'
(R):5'- CTGGGATTTGAACTCAGGACC -3'
Posted On 2019-10-07