Incidental Mutation 'R3147:Dbx1'
ID 264285
Institutional Source Beutler Lab
Gene Symbol Dbx1
Ensembl Gene ENSMUSG00000030507
Gene Name developing brain homeobox 1
Synonyms Mmox C, Dbx
MMRRC Submission 040599-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3147 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 49281247-49286583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 49286297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 56 (R56L)
Ref Sequence ENSEMBL: ENSMUSP00000032717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032717]
AlphaFold P52950
Predicted Effect probably damaging
Transcript: ENSMUST00000032717
AA Change: R56L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032717
Gene: ENSMUSG00000030507
AA Change: R56L

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
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T C X: 66,964,984 (GRCm39) D12G probably benign Het
Alg2 A T 4: 47,472,259 (GRCm39) V183D probably damaging Het
Amy1 T C 3: 113,363,697 (GRCm39) probably benign Het
Asb15 G T 6: 24,566,258 (GRCm39) A404S probably damaging Het
Atf2 T C 2: 73,681,283 (GRCm39) probably null Het
Atosa A G 9: 74,916,120 (GRCm39) I240V probably benign Het
Baalc A T 15: 38,812,568 (GRCm39) E106V possibly damaging Het
Catsperd G T 17: 56,971,039 (GRCm39) C701F possibly damaging Het
Cc2d2a T A 5: 43,866,497 (GRCm39) I769N probably damaging Het
Ccdc158 T C 5: 92,805,822 (GRCm39) N311S probably damaging Het
Eif4enif1 T A 11: 3,194,003 (GRCm39) probably null Het
Elmod3 T G 6: 72,563,485 (GRCm39) T48P probably benign Het
Erbb2 T C 11: 98,324,865 (GRCm39) S820P probably damaging Het
Gimap8 T C 6: 48,627,440 (GRCm39) V138A probably damaging Het
H1f5 T C 13: 21,964,285 (GRCm39) probably benign Het
Il6ra G T 3: 89,793,235 (GRCm39) P305Q probably benign Het
Kcng3 A G 17: 83,895,749 (GRCm39) V239A possibly damaging Het
Kcnrg T C 14: 61,845,140 (GRCm39) F60S probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama1 A G 17: 68,044,653 (GRCm39) D184G probably damaging Het
Lhcgr A T 17: 89,065,771 (GRCm39) L206Q probably damaging Het
Lhx3 T C 2: 26,091,277 (GRCm39) D344G probably benign Het
Marf1 A G 16: 13,943,843 (GRCm39) V1380A possibly damaging Het
Mtcl2 T G 2: 156,862,284 (GRCm39) K1548N possibly damaging Het
Mtfr1 T C 3: 19,271,374 (GRCm39) V182A probably benign Het
Or14a259 A G 7: 86,013,092 (GRCm39) L151S probably benign Het
Or5p64 C T 7: 107,854,883 (GRCm39) G154D possibly damaging Het
Rsf1 CG CGACGGAGGAG 7: 97,229,115 (GRCm39) probably benign Het
Snx4 A C 16: 33,108,094 (GRCm39) D296A probably benign Het
Sox7 A T 14: 64,186,083 (GRCm39) Y373F probably damaging Het
Tuba1b T C 15: 98,830,386 (GRCm39) T145A probably benign Het
Usp32 T A 11: 84,919,913 (GRCm39) N718I probably damaging Het
Wapl G A 14: 34,447,106 (GRCm39) V648M probably damaging Het
Zfp85 C T 13: 67,900,612 (GRCm39) V10M probably damaging Het
Zgrf1 A G 3: 127,377,797 (GRCm39) N1014S possibly damaging Het
Other mutations in Dbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Dbx1 APN 7 49,286,222 (GRCm39) missense probably benign 0.22
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
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
Predicted Primers PCR Primer
(F):5'- GCACGGCTGTATCTTACCTC -3'
(R):5'- AAAGGGAGCTACTGCCAGAC -3'

Sequencing Primer
(F):5'- GGAAAGGATGGCATTCACCCC -3'
(R):5'- AGACCCGCTCTAACCATGATGTTC -3'
Posted On 2015-02-05