Incidental Mutation 'IGL01141:Sdhaf3'
ID51383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdhaf3
Ensembl Gene ENSMUSG00000042505
Gene Namesuccinate dehydrogenase complex assembly factor 3
Synonyms0610005M07Rik, 4933430A16Rik, Acn9
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01141
Quality Score
Status
Chromosome6
Chromosomal Location6956004-7042979 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 6956141 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 39 (F39I)
Ref Sequence ENSEMBL: ENSMUSP00000040935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040826]
Predicted Effect probably damaging
Transcript: ENSMUST00000040826
AA Change: F39I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040935
Gene: ENSMUSG00000042505
AA Change: F39I

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 6e-8 PFAM
Pfam:Complex1_LYR_2 9 105 3.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181534
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,937,730 D1447E probably damaging Het
Atp2a3 T C 11: 72,982,665 I788T probably damaging Het
Axin1 G A 17: 26,190,041 E672K probably damaging Het
Ccno A G 13: 112,989,027 D175G probably damaging Het
Cep83 C A 10: 94,788,757 T632K probably benign Het
Ckmt1 A T 2: 121,362,993 I345F probably benign Het
Cntnap1 G A 11: 101,178,807 probably benign Het
Edem2 A G 2: 155,709,028 Y340H probably benign Het
Erich3 A G 3: 154,714,016 K249R probably benign Het
Fndc9 T C 11: 46,237,699 I15T probably benign Het
Gm4758 A G 16: 36,308,064 E7G probably benign Het
Grip2 G T 6: 91,782,897 Q300K probably benign Het
Herc2 T C 7: 56,212,841 V4050A possibly damaging Het
Jup A T 11: 100,386,249 D44E probably benign Het
Lingo3 G T 10: 80,835,313 P261Q probably damaging Het
Lrrfip2 C T 9: 111,219,715 R311W probably damaging Het
Mansc1 C A 6: 134,621,785 L56F probably benign Het
Map1b A G 13: 99,434,761 I484T probably damaging Het
Mpeg1 T A 19: 12,462,785 F536I probably damaging Het
Mrgprb1 T G 7: 48,448,027 T46P probably benign Het
Mug1 A G 6: 121,870,499 N612S probably benign Het
Olfr477 T C 7: 107,990,551 F62S probably damaging Het
Olfr805 T A 10: 129,722,945 I200L probably benign Het
Pax8 A G 2: 24,441,150 S178P probably damaging Het
Peak1 A G 9: 56,258,527 F706L probably benign Het
Prkdc A G 16: 15,726,704 T1853A probably damaging Het
Reln A C 5: 21,969,033 F2024C probably damaging Het
Reln G T 5: 21,919,069 P2813Q probably damaging Het
Riox1 A G 12: 83,951,794 Q368R probably damaging Het
Rspry1 T C 8: 94,649,855 V335A probably benign Het
Scn3a T C 2: 65,495,113 N1020S possibly damaging Het
Scyl2 A G 10: 89,640,635 V876A probably benign Het
Sfxn4 T C 19: 60,851,014 E202G possibly damaging Het
Slc1a4 A T 11: 20,308,644 probably benign Het
Sln A G 9: 53,853,500 I10V probably benign Het
Ssh2 A G 11: 77,449,726 E568G probably damaging Het
Supt7l G A 5: 31,518,435 P270S probably benign Het
Tanc2 A G 11: 105,886,474 probably benign Het
Tatdn1 A T 15: 58,909,567 probably benign Het
Tfip11 C T 5: 112,329,503 P117L possibly damaging Het
Vpreb1 T C 16: 16,869,087 M9V probably benign Het
Other mutations in Sdhaf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02401:Sdhaf3 APN 6 7038855 missense probably benign 0.00
IGL02658:Sdhaf3 APN 6 7038992 missense probably damaging 0.99
PIT4354001:Sdhaf3 UTSW 6 6956072 missense possibly damaging 0.94
R1647:Sdhaf3 UTSW 6 6956126 missense probably damaging 1.00
R1693:Sdhaf3 UTSW 6 7038964 missense probably benign 0.04
R2085:Sdhaf3 UTSW 6 6956048 missense probably benign 0.00
R5436:Sdhaf3 UTSW 6 7038855 missense probably benign 0.02
R7170:Sdhaf3 UTSW 6 6956043 missense probably benign 0.07
R7561:Sdhaf3 UTSW 6 6956079 missense not run
R7877:Sdhaf3 UTSW 6 7038855 missense probably benign 0.00
R7960:Sdhaf3 UTSW 6 7038855 missense probably benign 0.00
Posted On2013-06-21