Incidental Mutation 'R0467:Iba57'
ID41703
Institutional Source Beutler Lab
Gene Symbol Iba57
Ensembl Gene ENSMUSG00000049287
Gene NameIBA57 homolog, iron-sulfur cluster assembly
Synonyms
MMRRC Submission 038667-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.577) question?
Stock #R0467 (G1)
Quality Score128
Status Validated
Chromosome11
Chromosomal Location59155369-59163739 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59163439 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 85 (T85A)
Ref Sequence ENSEMBL: ENSMUSP00000114501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054523] [ENSMUST00000069631] [ENSMUST00000137433]
Predicted Effect probably benign
Transcript: ENSMUST00000054523
AA Change: T85A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049823
Gene: ENSMUSG00000049287
AA Change: T85A

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:GCV_T_C 259 352 1.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069631
SMART Domains Protein: ENSMUSP00000065882
Gene: ENSMUSG00000049287

DomainStartEndE-ValueType
low complexity region 81 97 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137433
AA Change: T85A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114501
Gene: ENSMUSG00000049287
AA Change: T85A

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:GCV_T 50 148 7.7e-9 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,972,715 S683P probably benign Het
2310007B03Rik A T 1: 93,153,044 I380N probably damaging Het
4931423N10Rik A G 2: 23,212,820 E190G possibly damaging Het
4933416C03Rik G A 10: 116,113,153 A156V probably benign Het
Abca17 A G 17: 24,313,177 probably benign Het
Anapc1 A G 2: 128,669,043 I511T probably damaging Het
Atf6 A T 1: 170,794,020 H477Q probably damaging Het
C4b A G 17: 34,736,127 V795A probably benign Het
Cdh26 C T 2: 178,481,632 R675C possibly damaging Het
Cdk12 T C 11: 98,203,579 V71A probably damaging Het
Cul3 A T 1: 80,280,863 D419E probably benign Het
Ddi2 A G 4: 141,685,184 I139T probably benign Het
Dnaaf1 T A 8: 119,590,732 D333E probably benign Het
Dnase1 A G 16: 4,039,149 D7G probably damaging Het
Fam71f1 G A 6: 29,326,607 S241N probably damaging Het
G3bp1 T C 11: 55,498,626 F383L probably damaging Het
Galc A C 12: 98,242,645 I250R probably damaging Het
Gcfc2 T C 6: 81,923,882 V59A possibly damaging Het
Gm6133 A C 18: 78,350,090 S100R probably benign Het
Ipo4 A T 14: 55,635,526 M1K probably null Het
Ippk A G 13: 49,430,865 probably null Het
Kcnk10 A T 12: 98,489,945 I209N probably benign Het
Klk14 T C 7: 43,694,110 L122P probably benign Het
Ltbp1 T A 17: 75,282,429 probably null Het
Mcm3 T C 1: 20,804,847 D737G probably benign Het
Naip2 A C 13: 100,161,782 I582S probably benign Het
Nalcn T A 14: 123,291,047 T1456S probably benign Het
Nckap1l C T 15: 103,497,427 P1097S probably benign Het
Ncoa1 A G 12: 4,267,687 M1215T possibly damaging Het
Nomo1 T A 7: 46,072,487 probably null Het
Obox5 T A 7: 15,758,007 C116S possibly damaging Het
Olfr644 C T 7: 104,068,125 R302H probably benign Het
Olfr701 T A 7: 106,818,361 S93T possibly damaging Het
Olfr76 C A 19: 12,120,536 A59S probably benign Het
Pcdhb14 G T 18: 37,449,224 R461L probably damaging Het
Pdgfra A G 5: 75,195,036 D1069G probably damaging Het
Pgr C T 9: 8,900,778 A104V possibly damaging Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Rassf3 A G 10: 121,417,204 probably benign Het
Rgs22 G T 15: 36,099,795 S258* probably null Het
Rsph6a C A 7: 19,057,669 D254E possibly damaging Het
Sgk1 A G 10: 21,996,358 probably benign Het
Shcbp1l G A 1: 153,433,182 C174Y probably damaging Het
Sulf1 T A 1: 12,796,920 N109K probably damaging Het
Tas2r115 T A 6: 132,737,719 I90L probably benign Het
Tmem200a T C 10: 25,994,104 H89R probably benign Het
Ubxn4 G A 1: 128,262,904 E256K probably benign Het
Xrn1 T C 9: 96,024,191 S1212P probably damaging Het
Zfp408 T C 2: 91,645,537 Y424C possibly damaging Het
Other mutations in Iba57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Iba57 APN 11 59158949 missense probably damaging 1.00
IGL02496:Iba57 APN 11 59158946 missense probably benign 0.26
FR4737:Iba57 UTSW 11 59161505 frame shift probably null
R0052:Iba57 UTSW 11 59158901 missense probably benign 0.06
R0103:Iba57 UTSW 11 59163613 missense probably benign 0.01
R4540:Iba57 UTSW 11 59163078 intron probably benign
R4626:Iba57 UTSW 11 59158461 missense probably benign 0.01
R6344:Iba57 UTSW 11 59158293 missense probably damaging 1.00
R6541:Iba57 UTSW 11 59158863 missense possibly damaging 0.83
R6711:Iba57 UTSW 11 59158543 missense probably damaging 1.00
R6807:Iba57 UTSW 11 59158614 missense probably damaging 1.00
RF011:Iba57 UTSW 11 59163612 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TAACTAGCGCAACCTGGATGCCTTC -3'
(R):5'- CTTTGGCCTTCTTGGCAGCAAC -3'

Sequencing Primer
(F):5'- CAAGGGTGTCTAGCCAGTATTCC -3'
(R):5'- CCTTCCTGTTGGGACTATCG -3'
Posted On2013-05-23