Incidental Mutation 'IGL00498:Dbx1'
ID 10076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbx1
Ensembl Gene ENSMUSG00000030507
Gene Name developing brain homeobox 1
Synonyms Mmox C, Dbx
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00498
Quality Score
Status
Chromosome 7
Chromosomal Location 49281247-49286583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49286222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 81 (D81G)
Ref Sequence ENSEMBL: ENSMUSP00000032717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032717]
AlphaFold P52950
Predicted Effect probably benign
Transcript: ENSMUST00000032717
AA Change: D81G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032717
Gene: ENSMUSG00000030507
AA Change: D81G

DomainStartEndE-ValueType
low complexity region 14 31 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
HOX 181 243 1.45e-23 SMART
low complexity region 299 331 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions of this gene die at birth. V0 interneurons develop as V1 or dl6 interneurons. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, other(6)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,432,242 (GRCm39) G128R unknown Het
Acsm5 T C 7: 119,141,661 (GRCm39) probably null Het
Atad2 A C 15: 57,980,216 (GRCm39) F423V probably damaging Het
Carmil3 T A 14: 55,739,352 (GRCm39) probably null Het
Cdc42bpa A C 1: 179,933,686 (GRCm39) E775A probably damaging Het
Cfdp1 T C 8: 112,567,110 (GRCm39) E133G probably benign Het
Chst3 A G 10: 60,021,441 (GRCm39) F469L possibly damaging Het
Dmp1 A G 5: 104,358,021 (GRCm39) probably benign Het
Dnah8 A G 17: 30,896,150 (GRCm39) T855A probably benign Het
Fbxw2 C T 2: 34,695,953 (GRCm39) A250T probably damaging Het
Fcgbp T C 7: 27,791,222 (GRCm39) C828R probably damaging Het
Gmfg G T 7: 28,145,810 (GRCm39) R83L possibly damaging Het
Gpr37l1 A G 1: 135,089,440 (GRCm39) probably benign Het
Hcfc1r1 G A 17: 23,892,982 (GRCm39) R9Q probably damaging Het
Hsd17b1 A T 11: 100,970,884 (GRCm39) H280L possibly damaging Het
Hsd17b12 A C 2: 93,913,510 (GRCm39) probably null Het
Itga1 A G 13: 115,167,729 (GRCm39) V99A probably benign Het
Kcnn1 A G 8: 71,305,524 (GRCm39) S229P probably damaging Het
Klhdc8a A G 1: 132,230,756 (GRCm39) N207S probably benign Het
Lrrtm4 T C 6: 79,999,529 (GRCm39) W314R probably damaging Het
Malrd1 T C 2: 16,146,997 (GRCm39) probably benign Het
Marcks T C 10: 37,014,513 (GRCm39) K7E probably damaging Het
Mov10 A G 3: 104,708,263 (GRCm39) probably benign Het
Pclo A T 5: 14,590,753 (GRCm39) T1018S unknown Het
Sdk1 T C 5: 142,071,361 (GRCm39) Y1184H probably damaging Het
Slc6a18 A T 13: 73,819,838 (GRCm39) M244K possibly damaging Het
Snx19 C T 9: 30,340,233 (GRCm39) T457I possibly damaging Het
Stard3 T A 11: 98,267,356 (GRCm39) V158D possibly damaging Het
Tnks G T 8: 35,328,843 (GRCm39) probably benign Het
Ugt2b34 A G 5: 87,049,084 (GRCm39) S314P probably damaging Het
Usp15 G A 10: 122,949,501 (GRCm39) S952L probably benign Het
Utp11 A G 4: 124,573,532 (GRCm39) V214A possibly damaging Het
Other mutations in Dbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02795:Dbx1 APN 7 49,286,325 (GRCm39) missense probably benign 0.03
R0630:Dbx1 UTSW 7 49,282,444 (GRCm39) missense probably damaging 1.00
R3104:Dbx1 UTSW 7 49,286,417 (GRCm39) missense probably damaging 1.00
R3147:Dbx1 UTSW 7 49,286,297 (GRCm39) missense probably damaging 1.00
R4002:Dbx1 UTSW 7 49,286,265 (GRCm39) missense probably benign 0.01
R5035:Dbx1 UTSW 7 49,282,284 (GRCm39) missense unknown
R5077:Dbx1 UTSW 7 49,283,242 (GRCm39) missense probably damaging 1.00
R5689:Dbx1 UTSW 7 49,282,519 (GRCm39) missense probably damaging 1.00
R8054:Dbx1 UTSW 7 49,282,498 (GRCm39) missense probably damaging 1.00
R9601:Dbx1 UTSW 7 49,282,403 (GRCm39) missense probably damaging 1.00
X0066:Dbx1 UTSW 7 49,282,239 (GRCm39) missense unknown
Posted On 2012-12-06