Incidental Mutation 'IGL02486: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 #IGL02486
Quality Score
Chromosomal Location115581716-115778768 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115777006 bp
Amino Acid Change Valine to Alanine at position 280 (V280A)
Ref Sequence ENSEMBL: ENSMUSP00000126772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110918] [ENSMUST00000166472]
Predicted Effect possibly damaging
Transcript: ENSMUST00000110918
AA Change: V274A

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106543
Gene: ENSMUSG00000040282
AA Change: V274A

Pfam:TPD 131 270 1.3e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166472
AA Change: V280A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126772
Gene: ENSMUSG00000040282
AA Change: V280A

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 112,515,258 N147K probably benign Het
9330182L06Rik T A 5: 9,422,323 V340E probably benign Het
Bcas1 T C 2: 170,406,398 D201G probably damaging Het
Bmp1 T A 14: 70,504,776 D333V possibly damaging Het
Btbd11 C A 10: 85,640,555 P900H probably damaging Het
Capn6 T C X: 143,804,677 E535G probably benign Het
Chac2 T C 11: 30,977,625 D86G probably damaging Het
Col14a1 T A 15: 55,388,696 probably benign Het
Daam1 T C 12: 71,947,145 probably benign Het
Eno4 A G 19: 58,945,665 probably null Het
Fat1 T C 8: 45,025,072 V2385A probably benign Het
Ffar4 T C 19: 38,113,760 I281T possibly damaging Het
Flcn C T 11: 59,801,043 W260* probably null Het
Fry T G 5: 150,491,177 S496A probably damaging Het
Gk T A X: 85,715,668 I373F possibly damaging Het
Gpr108 T C 17: 57,235,977 N528S probably damaging Het
Hey1 T A 3: 8,666,519 R50W probably damaging Het
Hgf A G 5: 16,602,289 Y393C probably damaging Het
Hmcn2 A T 2: 31,420,095 E3260D probably damaging Het
Ift172 A G 5: 31,257,583 I1365T probably damaging Het
Letmd1 A G 15: 100,475,111 R31G probably damaging Het
Mak16 T C 8: 31,160,586 probably benign Het
Mapkapk3 C T 9: 107,289,268 G26D probably damaging Het
Mphosph8 T C 14: 56,688,387 V603A possibly damaging Het
Myom1 G T 17: 71,099,944 probably benign Het
Neb T A 2: 52,282,603 N1564I possibly damaging Het
Nox1 C T X: 134,092,811 G433D probably damaging Het
Olfr133 T A 17: 38,149,221 L211Q probably damaging Het
Olfr554 A T 7: 102,640,420 H58L probably damaging Het
Olfr641 T C 7: 104,040,410 S205P probably damaging Het
Olfr745 T C 14: 50,642,632 F111S probably damaging Het
Rcc2 T C 4: 140,710,362 W135R probably damaging Het
Rgl2 A G 17: 33,935,980 I205V probably damaging Het
Robo4 G A 9: 37,408,374 G640E probably damaging Het
Slc26a5 A G 5: 21,846,325 F64L probably damaging Het
Slc27a2 A G 2: 126,553,350 T66A probably benign Het
St18 T C 1: 6,820,083 S580P probably damaging Het
Syt15 G A 14: 34,222,976 R160K probably damaging Het
Tmem63b A G 17: 45,673,983 S200P probably damaging Het
Tnks T A 8: 34,851,198 N841I probably damaging Het
Tnr G A 1: 159,852,094 probably null Het
Unc13d A G 11: 116,069,806 probably benign Het
Usp4 T C 9: 108,351,029 L74P probably damaging 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
IGL03273:BC052040 APN 2 115631991 missense probably damaging 1.00
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 On2015-04-16