Incidental Mutation 'IGL03273:BC052040'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC052040
Ensembl Gene ENSMUSG00000040282
Gene NamecDNA sequence BC052040
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03273
Quality Score
Chromosomal Location115581716-115778768 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115631991 bp
Amino Acid Change Tyrosine to Cysteine at position 68 (Y68C)
Ref Sequence ENSEMBL: ENSMUSP00000126772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110918] [ENSMUST00000166472]
Predicted Effect probably damaging
Transcript: ENSMUST00000110918
AA Change: Y68C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106543
Gene: ENSMUSG00000040282
AA Change: Y68C

Pfam:TPD 131 270 1.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147968
Predicted Effect probably damaging
Transcript: ENSMUST00000166472
AA Change: Y68C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126772
Gene: ENSMUSG00000040282
AA Change: Y68C

Pfam:TPD 132 275 2.2e-53 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524N10Rik A T X: 154,339,701 F114L probably benign Het
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam32 T A 8: 24,921,340 I102F probably damaging Het
Aldoart1 T C 4: 72,852,109 K154R probably benign Het
Cep63 T C 9: 102,602,467 K349E probably benign Het
Col28a1 A G 6: 8,103,484 probably benign Het
Dennd4c A G 4: 86,777,796 N130S probably damaging Het
Dnah5 T G 15: 28,458,649 F4477L probably damaging Het
Fbln7 A T 2: 128,895,470 T402S probably benign Het
Frem2 A C 3: 53,537,509 Y2400* probably null Het
Gm11937 C T 11: 99,609,801 probably benign Het
Guca1a T C 17: 47,395,173 D127G probably benign Het
Hrh3 T A 2: 180,100,648 T396S possibly damaging Het
Map1a A G 2: 121,300,238 N512D probably damaging Het
Mysm1 A C 4: 94,965,718 S215A probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nup93 T A 8: 94,306,277 D556E probably benign Het
Ofcc1 T A 13: 40,180,525 K363N probably damaging Het
Psme4 T A 11: 30,848,130 S1374R probably damaging Het
Slitrk2 T C X: 66,653,996 I31T probably benign Het
Stk40 A G 4: 126,123,806 N42S possibly damaging Het
Tarbp1 A G 8: 126,453,835 L600P probably damaging Het
Tjp1 T C 7: 65,299,799 S1692G probably damaging Het
Tmem63c G T 12: 87,081,802 V534L probably damaging Het
Vmn2r77 A G 7: 86,811,286 K607E probably damaging Het
Zfp292 A T 4: 34,806,163 S2299T probably benign Het
Other mutations in BC052040
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:BC052040 APN 2 115776985 missense possibly damaging 0.63
IGL02221:BC052040 APN 2 115639066 critical splice donor site probably null
IGL02486:BC052040 APN 2 115777006 missense possibly damaging 0.90
R0350:BC052040 UTSW 2 115776930 missense possibly damaging 0.79
R0499:BC052040 UTSW 2 115642691 missense probably damaging 1.00
R1479:BC052040 UTSW 2 115639013 missense probably benign 0.15
R1829:BC052040 UTSW 2 115642692 missense possibly damaging 0.69
R4736:BC052040 UTSW 2 115581888 missense probably benign 0.03
R4876:BC052040 UTSW 2 115670058 missense probably damaging 1.00
R4913:BC052040 UTSW 2 115670087 intron probably null
R6786:BC052040 UTSW 2 115631981 missense probably benign 0.00
R6834:BC052040 UTSW 2 115674784 missense probably benign 0.03
R6838:BC052040 UTSW 2 115776990 missense possibly damaging 0.81
X0028:BC052040 UTSW 2 115631030 missense probably damaging 1.00
Posted On2016-08-02