Incidental Mutation 'R6653:Sfxn3'
ID526540
Institutional Source Beutler Lab
Gene Symbol Sfxn3
Ensembl Gene ENSMUSG00000025212
Gene Namesideroflexin 3
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6653 (G1)
Quality Score225.009
Status Not validated
Chromosome19
Chromosomal Location45047576-45056383 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 45049915 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062213] [ENSMUST00000062213] [ENSMUST00000084493] [ENSMUST00000084493] [ENSMUST00000111954] [ENSMUST00000111954] [ENSMUST00000145391] [ENSMUST00000169459]
Predicted Effect probably null
Transcript: ENSMUST00000062213
SMART Domains Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212

DomainStartEndE-ValueType
Pfam:Mtc 15 321 1.8e-154 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000062213
SMART Domains Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212

DomainStartEndE-ValueType
Pfam:Mtc 15 321 1.8e-154 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000084493
SMART Domains Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212

DomainStartEndE-ValueType
Pfam:Mtc 15 230 2.5e-106 PFAM
Pfam:Mtc 225 280 2.6e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000084493
SMART Domains Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212

DomainStartEndE-ValueType
Pfam:Mtc 15 230 2.5e-106 PFAM
Pfam:Mtc 225 280 2.6e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111954
SMART Domains Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212

DomainStartEndE-ValueType
Pfam:Mtc 15 114 1.4e-48 PFAM
Pfam:Mtc 110 288 2.3e-78 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111954
SMART Domains Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212

DomainStartEndE-ValueType
Pfam:Mtc 15 114 1.4e-48 PFAM
Pfam:Mtc 110 288 2.3e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145391
SMART Domains Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818

DomainStartEndE-ValueType
low complexity region 12 35 N/A INTRINSIC
PDZ 95 167 3.51e-19 SMART
PDZ 220 292 2.47e-14 SMART
low complexity region 319 344 N/A INTRINSIC
low complexity region 442 459 N/A INTRINSIC
low complexity region 521 533 N/A INTRINSIC
low complexity region 724 744 N/A INTRINSIC
low complexity region 768 809 N/A INTRINSIC
low complexity region 812 824 N/A INTRINSIC
PDZ 866 947 1.96e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169459
SMART Domains Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818

DomainStartEndE-ValueType
low complexity region 12 35 N/A INTRINSIC
PDZ 95 167 3.51e-19 SMART
PDZ 220 292 2.47e-14 SMART
low complexity region 319 344 N/A INTRINSIC
low complexity region 442 459 N/A INTRINSIC
low complexity region 521 533 N/A INTRINSIC
low complexity region 724 744 N/A INTRINSIC
low complexity region 768 809 N/A INTRINSIC
low complexity region 812 824 N/A INTRINSIC
PDZ 866 947 1.96e-8 SMART
Meta Mutation Damage Score 0.9508 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal mitochondrial bioenergetics in isolated synaptosomes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 120,346,006 L435R probably benign Het
Abcc2 T A 19: 43,812,502 H627Q probably benign Het
Ankhd1 A T 18: 36,600,783 probably null Het
Ankrd50 T A 3: 38,457,361 I286F probably damaging Het
Asb15 A G 6: 24,562,633 N198S probably benign Het
B4galnt2 T A 11: 95,891,921 M22L probably benign Het
Bcdin3d T C 15: 99,470,815 T168A probably damaging Het
Bmp1 A T 14: 70,490,618 W624R probably damaging Het
Cdh4 C T 2: 179,780,428 A115V probably benign Het
Cfap53 A G 18: 74,300,209 T122A probably damaging Het
Chsy1 A G 7: 66,110,193 K95E probably benign Het
Csde1 C A 3: 103,052,868 P604T probably damaging Het
Cts7 A T 13: 61,355,003 L237Q probably damaging Het
Cutal C T 2: 34,885,921 T88I probably benign Het
Dlg4 G T 11: 70,023,953 probably benign Het
Dnah7c C A 1: 46,649,340 T1890K probably benign Het
Dnah7c A G 1: 46,649,351 S1894G probably benign Het
Eif2b4 C T 5: 31,192,207 E53K possibly damaging Het
Erp44 T C 4: 48,205,130 I288V probably null Het
Fcamr A G 1: 130,813,202 T453A possibly damaging Het
Glb1l3 T C 9: 26,859,588 T61A probably benign Het
Gpr26 T C 7: 131,984,101 S267P probably benign Het
Heatr6 A T 11: 83,759,365 T216S probably benign Het
Hephl1 C T 9: 15,081,964 V525I probably damaging Het
Jak2 T A 19: 29,288,710 I517N probably benign Het
Kbtbd4 T A 2: 90,909,769 Y499* probably null Het
Kif1a A T 1: 93,077,698 I118N probably damaging Het
Klhdc7b A G 15: 89,387,089 S725G probably benign Het
Mfsd13a T C 19: 46,367,866 F137L probably damaging Het
Myo7a T A 7: 98,054,503 Y1977F probably damaging Het
Naip2 C T 13: 100,152,136 V1194I probably benign Het
Naip2 T G 13: 100,161,844 K561N probably benign Het
Nkx2-4 G T 2: 147,083,940 A334E possibly damaging Het
Nlrp9c T A 7: 26,371,322 N945Y probably damaging Het
Olfr1507 C T 14: 52,490,793 R57Q probably benign Het
Olfr30 A T 11: 58,455,568 I127N probably damaging Het
Olfr44 A G 9: 39,484,752 V164A probably benign Het
Pcdha7 A G 18: 36,974,486 Q188R probably benign Het
Phf3 A T 1: 30,805,023 S1618R possibly damaging Het
Phip C A 9: 82,900,741 E884* probably null Het
Plxnc1 C A 10: 94,943,876 V235L probably damaging Het
Qser1 A G 2: 104,780,260 V1226A possibly damaging Het
Ros1 G T 10: 52,142,203 S786R probably damaging Het
Rps6ka5 A G 12: 100,551,536 S769P probably damaging Het
Specc1 T G 11: 62,146,418 S813A probably damaging Het
Spry1 T C 3: 37,642,722 I38T probably damaging Het
Tagap T C 17: 7,933,714 V577A probably benign Het
Tmem44 T C 16: 30,537,551 D110G probably damaging Het
Ubn2 A G 6: 38,434,462 E97G possibly damaging Het
Ubr4 C A 4: 139,473,624 H4706Q possibly damaging Het
Usp25 T A 16: 77,059,288 N256K probably benign Het
Vmn2r112 T A 17: 22,601,179 L11Q probably null Het
Wnt2b C A 3: 104,953,186 R135L probably damaging Het
Zfp60 T C 7: 27,748,726 F273S probably benign Het
Other mutations in Sfxn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
basilica UTSW 19 45049915 critical splice donor site probably null
pew UTSW 19 45049815 missense probably damaging 1.00
R4652:Sfxn3 UTSW 19 45050874 critical splice acceptor site probably null
R4889:Sfxn3 UTSW 19 45049815 missense probably damaging 1.00
R6649:Sfxn3 UTSW 19 45049915 critical splice donor site probably null
R6650:Sfxn3 UTSW 19 45049915 critical splice donor site probably null
R6651:Sfxn3 UTSW 19 45049915 critical splice donor site probably null
R6652:Sfxn3 UTSW 19 45049915 critical splice donor site probably null
R7341:Sfxn3 UTSW 19 45049262 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCTTGCCAATTTCTACAGGGC -3'
(R):5'- AGACTTAGCTCATGGTCCCC -3'

Sequencing Primer
(F):5'- CCAATTTCTACAGGGCTGGTG -3'
(R):5'- TAGCTCATGGTCCCCAAACTGG -3'
Posted On2018-07-23