Incidental Mutation 'RF011:Iba57'
ID603220
Institutional Source Beutler Lab
Gene Symbol Iba57
Ensembl Gene ENSMUSG00000049287
Gene NameIBA57 homolog, iron-sulfur cluster assembly
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.678) question?
Stock #RF011 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location59155369-59163739 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 59163612 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 27 (A27E)
Ref Sequence ENSEMBL: ENSMUSP00000049823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054523] [ENSMUST00000069631] [ENSMUST00000137433]
Predicted Effect probably benign
Transcript: ENSMUST00000054523
AA Change: A27E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000049823
Gene: ENSMUSG00000049287
AA Change: A27E

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: A27E

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114501
Gene: ENSMUSG00000049287
AA Change: A27E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:GCV_T 50 148 7.7e-9 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik T C 19: 29,743,609 K672R possibly damaging Het
A030005L19Rik GTGGTGGCTG GTGGTGGCTGTGGTGGCTG 1: 82,913,569 probably benign Het
A030005L19Rik TGGCTGCTG TGGCTGCTGGGGCTGCTG 1: 82,913,573 probably benign Het
A030005L19Rik TGCTG TGCTGTGGCGGCTG 1: 82,913,586 probably benign Het
AI837181 GCG GCGTCG 19: 5,425,236 probably benign Het
Ankrd24 C CGGAGGCAGAGGA 10: 81,643,571 probably benign Het
Aqp2 T C 15: 99,583,872 S216P probably damaging Het
Cacna1f GGA GGAAGA X: 7,620,056 probably benign Het
Ccdc170 CCA CCAGCA 10: 4,561,018 probably benign Het
Cd109 TATTTAT TATTTATTTATTCATTTAT 9: 78,712,528 probably benign Het
Cela2a T C 4: 141,821,715 N117D probably benign Het
Cul9 CTTC CTTCTTC 17: 46,500,848 probably benign Het
Cyb5r2 A T 7: 107,751,168 S235R probably benign Het
Dnmt1 CACAGTTCCTACCTCGTT CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT 9: 20,910,128 probably null Het
Dnmt1 TT TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT 9: 20,910,144 probably null Het
E4f1 CCG CCGTCG 17: 24,455,186 probably benign Het
Fam171b TCCAGCA TCCAGCACCAGCA 2: 83,812,873 probably benign Het
Fam171b GC GCAGCATC 2: 83,812,895 probably benign Het
Fam81b CTGTT CTGTTGTT 13: 76,271,316 probably benign Het
Fkbp1a GCCGCCGCCA G 2: 151,542,699 probably null Het
Flii G A 11: 60,716,243 A969V probably benign Het
Fscb AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG 12: 64,472,994 probably benign Het
Gas1 G GAAA 13: 60,176,531 probably benign Het
Grip1 A G 10: 119,931,315 D115G probably null Het
Guca2b G T 4: 119,656,847 T89N possibly damaging Het
Hcn4 T A 9: 58,859,915 S920T unknown Het
Heatr1 A G 13: 12,407,544 M484V probably benign Het
Ifi207 G C 1: 173,729,121 L684V not run Het
Ints13 T C 6: 146,556,240 H380R probably damaging Het
Jmjd1c C T 10: 67,220,199 T466I possibly damaging Het
Kcnh8 G A 17: 52,978,239 R1079H probably benign Het
Kif12 C CCTCCACCCGGCGGGG 4: 63,171,427 probably benign Het
Kmt2c A T 5: 25,338,459 D1399E probably damaging Het
Macf1 A T 4: 123,473,855 L2371Q probably damaging Het
Mbd1 GTCTTCGTCTGCATCTGCATCTGCATCT GTCT 18: 74,273,610 probably benign Het
Med12l GCA GCATCA 3: 59,275,980 probably benign Het
Mgam C A 6: 40,757,436 Q1472K probably damaging Het
Mup21 TATACTT TATACTTTTTAGATACTT 4: 62,149,345 probably benign Het
Nipal1 A G 5: 72,666,813 N167D probably damaging Het
Olfr1105 T A 2: 87,034,041 Y60F probably damaging Het
Olfr1426 C T 19: 12,088,247 V182I probably benign Het
Osbpl3 CCTGCA C 6: 50,348,138 probably benign Het
Phf20 CCCCCCCCC CCCCCCCCCCCCCCCC 2: 156,304,620 probably benign Het
Phf20 CCCCCCCC CCCCCCCCCCCCCCC 2: 156,304,621 probably benign Het
Pramef25 C G 4: 143,948,908 Q449H probably damaging Het
Rassf6 TCCTGTAGAGCAATGGGGATTC TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC 5: 90,608,921 probably benign Het
Rbm33 CCAGCCGCAGC CCAGC 5: 28,394,181 probably benign Het
Rubcnl T C 14: 75,044,438 F445S probably damaging Het
S100a10 TTTTTTTA T 3: 93,564,234 probably benign Het
Sbp AA AAAATGCTGACAACGGA 17: 23,945,354 probably benign Het
Sec14l3 A C 11: 4,067,963 Q81P possibly damaging Het
Setd1a TGGTGGTGG TGGTGGTGGGGGTGGTGG 7: 127,785,343 probably benign Het
Six3 CGG CGGGGG 17: 85,621,368 probably benign Het
Snapc5 ATGGAAGAAGAGG A 9: 64,182,211 probably benign Het
Tbc1d12 CGGAGGAGG CGG 19: 38,836,957 probably benign Het
Tcof1 AGC AGCCGC 18: 60,835,739 probably benign Het
Tmem28 CGCCGC CGCCGCAGCCGC X: 99,821,361 probably benign Het
Tox2 A G 2: 163,225,564 I68V probably benign Het
Triml2 G T 8: 43,183,164 probably benign Het
Tspan33 A G 6: 29,716,730 Y162C probably damaging Het
Zfp384 GGCCCAGGCCCA GGCCCAGGCCCAAGCCCAGGCCCA 6: 125,036,476 probably benign Het
Zfp948 T C 17: 21,588,312 Y589H probably damaging Het
Zic1 T C 9: 91,364,330 I230V probably benign 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
R0467:Iba57 UTSW 11 59163439 missense probably benign 0.03
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
R7992:Iba57 UTSW 11 59161462 missense unknown
R8065:Iba57 UTSW 11 59163260 intron probably benign
R8067:Iba57 UTSW 11 59163260 intron probably benign
Predicted Primers PCR Primer
(F):5'- TCAGGAAATGGGCATACGC -3'
(R):5'- TTTATCTGGGCTTGCGCAC -3'

Sequencing Primer
(F):5'- ACGCGCAGAGGGCTGAG -3'
(R):5'- ACCCATCCACTGGCTGAG -3'
Posted On2019-12-04