Incidental Mutation 'IGL02548:Barhl2'
ID 297947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Barhl2
Ensembl Gene ENSMUSG00000034384
Gene Name BarH like homeobox 2
Synonyms MBH1, E130309B19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02548
Quality Score
Status
Chromosome 5
Chromosomal Location 106600389-106606032 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106603391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 256 (V256A)
Ref Sequence ENSEMBL: ENSMUSP00000084005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086795]
AlphaFold Q8VIB5
Predicted Effect probably benign
Transcript: ENSMUST00000086795
AA Change: V256A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000084005
Gene: ENSMUSG00000034384
AA Change: V256A

DomainStartEndE-ValueType
low complexity region 83 138 N/A INTRINSIC
HOX 229 291 4.6e-26 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display postnatal lethality with slow weight gain, impaired coordination, decreased numbers of retinal ganglion cells and retinal amacrine cells, and abnormal eye electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,654,686 (GRCm39) A545V probably damaging Het
Adam29 A T 8: 56,325,902 (GRCm39) L184* probably null Het
Ap1g1 C T 8: 110,576,254 (GRCm39) A432V probably damaging Het
Atrn C T 2: 130,814,202 (GRCm39) T716I probably damaging Het
Bahd1 C A 2: 118,747,526 (GRCm39) Q382K possibly damaging Het
Camta2 A G 11: 70,561,511 (GRCm39) F1113L probably damaging Het
Cdh23 G T 10: 60,485,901 (GRCm39) T38K probably benign Het
Cmtm3 T C 8: 105,071,437 (GRCm39) L111P probably damaging Het
Col27a1 T C 4: 63,236,492 (GRCm39) probably benign Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Flt1 C A 5: 147,576,058 (GRCm39) R650L probably benign Het
Fpr1 T A 17: 18,096,915 (GRCm39) E358V probably benign Het
Ggnbp2 A T 11: 84,753,112 (GRCm39) N42K possibly damaging Het
Gldc T C 19: 30,077,299 (GRCm39) T958A probably benign Het
Gm3573 A G 14: 42,009,452 (GRCm39) probably null Het
Hspbp1 T C 7: 4,684,840 (GRCm39) probably benign Het
Jhy G T 9: 40,828,471 (GRCm39) Y478* probably null Het
Kiz A G 2: 146,712,690 (GRCm39) E118G probably damaging Het
Klhdc1 A G 12: 69,300,492 (GRCm39) Y144C probably benign Het
Lamc3 A T 2: 31,810,674 (GRCm39) Y848F probably benign Het
Mixl1 T C 1: 180,522,269 (GRCm39) E204G probably benign Het
Muc2 T A 7: 141,305,594 (GRCm39) C202S probably damaging Het
Nfatc1 T C 18: 80,741,113 (GRCm39) S282G probably damaging Het
Or2j6 T A 7: 139,980,575 (GRCm39) Y128F probably damaging Het
Or5b111 T C 19: 13,291,302 (GRCm39) M116V probably damaging Het
Or5k8 C A 16: 58,644,691 (GRCm39) C127F probably benign Het
Orc2 A T 1: 58,505,281 (GRCm39) probably benign Het
Pcdhb10 T C 18: 37,545,743 (GRCm39) I273T probably benign Het
Pdzph1 G A 17: 59,280,386 (GRCm39) T632I probably benign Het
Phf1 A G 17: 27,154,600 (GRCm39) Y225C probably damaging Het
Pramel17 T A 4: 101,692,770 (GRCm39) Y410F probably damaging Het
Prcp T C 7: 92,550,382 (GRCm39) F60L probably damaging Het
Psg21 C T 7: 18,388,961 (GRCm39) V44I possibly damaging Het
Ptgdr C T 14: 45,096,071 (GRCm39) V214M probably damaging Het
Pth1r G A 9: 110,556,748 (GRCm39) R181W probably damaging Het
Ralgapb A G 2: 158,286,585 (GRCm39) I343M probably damaging Het
Retreg1 C T 15: 25,895,204 (GRCm39) Q128* probably null Het
Rrbp1 T C 2: 143,791,679 (GRCm39) probably benign Het
Skint5 T A 4: 113,588,273 (GRCm39) M726L unknown Het
Slc6a18 T C 13: 73,818,114 (GRCm39) Y301C probably damaging Het
Slc8a3 G A 12: 81,250,930 (GRCm39) probably benign Het
Tacr3 C A 3: 134,535,232 (GRCm39) Q67K probably damaging Het
Tfrc A T 16: 32,443,640 (GRCm39) K534* probably null Het
Timp3 T A 10: 86,174,315 (GRCm39) M67K probably benign Het
Tmem120a C T 5: 135,765,628 (GRCm39) E179K probably damaging Het
Tomm40l G A 1: 171,049,216 (GRCm39) probably benign Het
Tubal3 A G 13: 3,980,554 (GRCm39) R89G probably benign Het
Wdr35 A T 12: 9,074,297 (GRCm39) N976I probably benign Het
Zfp292 T C 4: 34,805,416 (GRCm39) T2543A probably damaging Het
Zfp976 T A 7: 42,261,953 (GRCm39) H628L unknown Het
Zmynd8 A G 2: 165,675,325 (GRCm39) V301A probably damaging Het
Other mutations in Barhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00332:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00339:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00418:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00421:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00425:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00428:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00432:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00471:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
BB001:Barhl2 UTSW 5 106,605,515 (GRCm39) missense unknown
BB011:Barhl2 UTSW 5 106,605,515 (GRCm39) missense unknown
R0310:Barhl2 UTSW 5 106,605,253 (GRCm39) missense possibly damaging 0.93
R1662:Barhl2 UTSW 5 106,601,365 (GRCm39) missense probably benign 0.02
R1749:Barhl2 UTSW 5 106,605,572 (GRCm39) missense unknown
R1974:Barhl2 UTSW 5 106,605,179 (GRCm39) missense probably benign 0.35
R5184:Barhl2 UTSW 5 106,605,506 (GRCm39) missense unknown
R5195:Barhl2 UTSW 5 106,601,305 (GRCm39) missense possibly damaging 0.96
R5604:Barhl2 UTSW 5 106,603,412 (GRCm39) missense probably benign 0.07
R6026:Barhl2 UTSW 5 106,603,474 (GRCm39) missense probably benign 0.04
R7924:Barhl2 UTSW 5 106,605,515 (GRCm39) missense unknown
R8906:Barhl2 UTSW 5 106,603,352 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16