Incidental Mutation 'IGL03113:Barhl1'
ID419294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Barhl1
Ensembl Gene ENSMUSG00000026805
Gene NameBarH like homeobox 1
SynonymsDres115, MBH2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.258) question?
Stock #IGL03113
Quality Score
Status
Chromosome2
Chromosomal Location28907679-28916668 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28915456 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 75 (D75G)
Ref Sequence ENSEMBL: ENSMUSP00000109480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050776] [ENSMUST00000113847] [ENSMUST00000113849]
Predicted Effect probably benign
Transcript: ENSMUST00000050776
AA Change: D75G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000053147
Gene: ENSMUSG00000026805
AA Change: D75G

DomainStartEndE-ValueType
low complexity region 33 54 N/A INTRINSIC
low complexity region 144 152 N/A INTRINSIC
HOX 178 240 4.35e-27 SMART
low complexity region 309 321 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113847
AA Change: D75G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109478
Gene: ENSMUSG00000026805
AA Change: D75G

DomainStartEndE-ValueType
low complexity region 33 54 N/A INTRINSIC
low complexity region 144 152 N/A INTRINSIC
HOX 178 240 4.35e-27 SMART
low complexity region 309 321 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113849
AA Change: D75G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109480
Gene: ENSMUSG00000026805
AA Change: D75G

DomainStartEndE-ValueType
low complexity region 33 54 N/A INTRINSIC
low complexity region 144 152 N/A INTRINSIC
HOX 178 240 4.35e-27 SMART
low complexity region 309 321 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124059
SMART Domains Protein: ENSMUSP00000134363
Gene: ENSMUSG00000026805

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
low complexity region 76 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174027
SMART Domains Protein: ENSMUSP00000134118
Gene: ENSMUSG00000026805

DomainStartEndE-ValueType
HOX 1 32 2.5e-3 SMART
low complexity region 101 113 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in progressive hearing loss starting at 2 weeks of age. Animals are completely deaf by 10 months of age and show degeneration of the inner and outer cochlear hair cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof G A 10: 128,269,699 V241M probably benign Het
Arhgef10 T A 8: 14,954,505 I91N probably damaging Het
Arhgef17 G A 7: 100,929,731 T670I probably benign Het
Capn13 T C 17: 73,331,113 T432A probably benign Het
Casd1 T A 6: 4,640,951 Y691N probably damaging Het
Ccdc175 C A 12: 72,144,783 V340L probably benign Het
Cdc5l A T 17: 45,433,422 M5K possibly damaging Het
Cgn A G 3: 94,779,234 F253L probably benign Het
Csmd1 T C 8: 16,028,698 K2003R probably benign Het
Disp2 T A 2: 118,790,778 probably null Het
Dnah7a T C 1: 53,433,004 N3535D possibly damaging Het
Exoc3 G A 13: 74,193,113 Q191* probably null Het
Fstl5 T A 3: 76,429,792 Y219* probably null Het
Gad2 T A 2: 22,681,355 L435Q probably benign Het
Gcnt3 A G 9: 70,034,701 V195A probably damaging Het
Haus6 G A 4: 86,583,106 Q843* probably null Het
Hivep2 T A 10: 14,130,651 F998I probably damaging Het
Hsf5 A T 11: 87,657,364 E624D probably benign Het
Klb A G 5: 65,383,470 N969D probably benign Het
Klhl6 T A 16: 19,957,251 S186C possibly damaging Het
Klk15 T C 7: 43,938,381 F78L probably benign Het
Ldlr A G 9: 21,739,828 E514G possibly damaging Het
Map9 T A 3: 82,359,978 probably benign Het
Miga2 A T 2: 30,384,010 I99F possibly damaging Het
Morc4 T C X: 139,857,856 E189G probably benign Het
Nhlrc3 A T 3: 53,458,563 Y170N possibly damaging Het
Olfr1138 T C 2: 87,738,162 Q54R probably benign Het
Olfr1216 A G 2: 89,014,035 F10L probably damaging Het
Olfr1321 T A X: 49,727,062 N291Y probably damaging Het
Olfr401 G A 11: 74,121,703 R138Q probably benign Het
Olfr623 A T 7: 103,660,644 V202D possibly damaging Het
Olfr654 A T 7: 104,588,733 R310W probably benign Het
Olfr951 A C 9: 39,394,685 K295T probably damaging Het
Pkd1l1 G A 11: 8,834,793 T1997I probably benign Het
Poln A G 5: 34,116,862 S377P probably benign Het
Rab22a T A 2: 173,661,472 V26E probably damaging Het
Rhbdl3 T C 11: 80,353,613 V382A possibly damaging Het
Slitrk3 G T 3: 73,050,390 Q350K probably benign Het
Sult1d1 A T 5: 87,559,879 Y127* probably null Het
Vmn1r73 A T 7: 11,756,600 Y115F probably benign Het
Zfp128 T A 7: 12,890,387 D227E probably benign Het
Other mutations in Barhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Barhl1 APN 2 28915546 missense probably benign 0.03
IGL02337:Barhl1 APN 2 28911419 missense probably damaging 1.00
R0449:Barhl1 UTSW 2 28915292 missense probably benign 0.06
R1675:Barhl1 UTSW 2 28915411 missense possibly damaging 0.86
R1829:Barhl1 UTSW 2 28909845 missense probably damaging 1.00
R3615:Barhl1 UTSW 2 28911550 missense possibly damaging 0.75
R3616:Barhl1 UTSW 2 28911550 missense possibly damaging 0.75
R4937:Barhl1 UTSW 2 28909773 missense probably damaging 1.00
R5481:Barhl1 UTSW 2 28915340 missense probably damaging 0.98
R6075:Barhl1 UTSW 2 28915219 missense probably damaging 0.99
R6727:Barhl1 UTSW 2 28915483 missense probably benign 0.01
R6728:Barhl1 UTSW 2 28915483 missense probably benign 0.01
R7096:Barhl1 UTSW 2 28909714 missense probably benign
R7123:Barhl1 UTSW 2 28909931 splice site probably null
R7336:Barhl1 UTSW 2 28909843 missense probably benign 0.40
R7339:Barhl1 UTSW 2 28909887 missense probably damaging 1.00
R7584:Barhl1 UTSW 2 28909791 missense probably damaging 0.99
X0065:Barhl1 UTSW 2 28915339 missense probably damaging 0.99
Posted On2016-08-02