Incidental Mutation 'IGL02747:Dbx2'
ID 306088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbx2
Ensembl Gene ENSMUSG00000045608
Gene Name developing brain homeobox 2
Synonyms LOC383001, 9430056A22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02747
Quality Score
Status
Chromosome 15
Chromosomal Location 95623563-95655960 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95632439 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 216 (T216A)
Ref Sequence ENSEMBL: ENSMUSP00000060424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054244]
AlphaFold F8VQH7
Predicted Effect probably benign
Transcript: ENSMUST00000054244
AA Change: T216A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000060424
Gene: ENSMUSG00000045608
AA Change: T216A

DomainStartEndE-ValueType
low complexity region 43 56 N/A INTRINSIC
low complexity region 108 125 N/A INTRINSIC
HOX 226 288 3.11e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229611
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,373,282 L3373* probably null Het
Ap1s3 T C 1: 79,623,692 Y94C probably damaging Het
BC048403 A C 10: 121,745,550 Q152P possibly damaging Het
Dsg4 A G 18: 20,446,938 R67G probably damaging Het
Eng G A 2: 32,672,958 probably null Het
Gm28042 T A 2: 120,031,394 I206N probably damaging Het
Gsdmc4 C T 15: 63,893,871 M276I probably benign Het
Itih2 A G 2: 10,097,945 S793P probably benign Het
Kcnj13 T C 1: 87,389,365 N9D probably benign Het
Krt78 T A 15: 101,950,384 probably benign Het
Megf10 A G 18: 57,290,493 K985E probably benign Het
Naa25 A G 5: 121,414,605 probably benign Het
Olfr918 T C 9: 38,673,084 Y133C probably benign Het
Plekhm2 T C 4: 141,634,272 T307A possibly damaging Het
Ppp1cc A G 5: 122,174,073 K301E probably benign Het
Ralgds T C 2: 28,548,110 probably benign Het
Rccd1 A T 7: 80,320,490 D126E probably benign Het
Reps1 T C 10: 18,123,600 S712P probably damaging Het
Rnf103 T A 6: 71,509,177 I264N probably damaging Het
Rpap1 A G 2: 119,774,128 I433T probably damaging Het
Ryr2 T G 13: 11,655,677 N3478H probably damaging Het
Sox30 A G 11: 45,980,945 D209G probably benign Het
Sox6 A G 7: 115,489,746 F628S probably damaging Het
Tas1r3 C T 4: 155,860,460 G768D possibly damaging Het
Tesk2 T C 4: 116,802,879 V398A probably benign Het
Tmem135 A T 7: 89,144,670 I388N probably damaging Het
Tpgs2 A G 18: 25,139,145 probably benign Het
Vmn2r120 G A 17: 57,524,719 H357Y probably benign Het
Other mutations in Dbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02245:Dbx2 APN 15 95624747 missense probably damaging 1.00
R0610:Dbx2 UTSW 15 95624897 missense probably benign 0.01
R0646:Dbx2 UTSW 15 95654612 missense possibly damaging 0.53
R1411:Dbx2 UTSW 15 95632381 missense probably damaging 0.98
R1770:Dbx2 UTSW 15 95624734 missense probably benign 0.11
R1978:Dbx2 UTSW 15 95632353 missense probably damaging 0.99
R2118:Dbx2 UTSW 15 95624800 missense probably damaging 1.00
R2349:Dbx2 UTSW 15 95624959 missense probably benign 0.06
R3899:Dbx2 UTSW 15 95632432 missense possibly damaging 0.81
R5368:Dbx2 UTSW 15 95640641 missense probably benign 0.09
R5734:Dbx2 UTSW 15 95654723 missense possibly damaging 0.53
R6726:Dbx2 UTSW 15 95624860 missense possibly damaging 0.64
R6843:Dbx2 UTSW 15 95654459 missense possibly damaging 0.91
R7962:Dbx2 UTSW 15 95654318 missense probably benign 0.36
R8490:Dbx2 UTSW 15 95654573 missense possibly damaging 0.59
R8845:Dbx2 UTSW 15 95654636 missense probably benign 0.01
R8865:Dbx2 UTSW 15 95632400 nonsense probably null
R9069:Dbx2 UTSW 15 95632358 missense probably damaging 1.00
R9525:Dbx2 UTSW 15 95654423 missense probably benign 0.43
Posted On 2015-04-16