Incidental Mutation 'R1411:Dbx2'
ID200828
Institutional Source Beutler Lab
Gene Symbol Dbx2
Ensembl Gene ENSMUSG00000045608
Gene Namedeveloping brain homeobox 2
SynonymsLOC383001, 9430056A22Rik
MMRRC Submission 039467-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #R1411 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location95623563-95655960 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95632381 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 235 (E235G)
Ref Sequence ENSEMBL: ENSMUSP00000060424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054244]
Predicted Effect probably damaging
Transcript: ENSMUST00000054244
AA Change: E235G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060424
Gene: ENSMUSG00000045608
AA Change: E235G

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
Meta Mutation Damage Score 0.074 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,461,730 I85F probably damaging Het
Acp4 A G 7: 44,256,843 probably benign Het
Baz1b T C 5: 135,230,323 F1080L possibly damaging Het
Cbx5 A T 15: 103,213,120 M30K probably benign Het
Cdc73 A G 1: 143,609,514 probably benign Het
Cdcp1 A T 9: 123,190,112 L34Q probably damaging Het
Chd8 C T 14: 52,224,646 V738I probably benign Het
Cpeb2 T G 5: 43,233,770 probably benign Het
Cyp2c67 T A 19: 39,638,591 D265V probably damaging Het
Cyp2j11 A G 4: 96,345,216 I81T probably benign Het
Dgkq C A 5: 108,650,362 V677F probably damaging Het
Ercc5 A G 1: 44,178,281 N928S probably damaging Het
Flt1 C T 5: 147,580,316 V1054M probably damaging Het
Flywch1 T C 17: 23,755,824 D614G probably damaging Het
Frmd3 T C 4: 74,153,621 F247L probably damaging Het
Gm1527 A G 3: 28,914,483 N228S probably benign Het
Gm8979 C T 7: 106,083,479 A190T probably benign Het
Gpld1 T A 13: 24,962,808 L251Q probably damaging Het
Gzma C T 13: 113,096,208 V117I probably benign Het
Hydin C A 8: 110,575,031 T3798K probably benign Het
Il1rapl1 T A X: 86,747,298 S679C possibly damaging Het
Lrrc8c G A 5: 105,608,179 A607T probably damaging Het
Ltbp1 A G 17: 75,225,285 Q118R possibly damaging Het
Mfsd4b4 A T 10: 39,892,140 M319K probably damaging Het
Mroh2b A C 15: 4,918,317 H538P probably damaging Het
Nrbp1 T A 5: 31,245,813 I210N probably damaging Het
Nup188 A G 2: 30,343,795 T1733A probably benign Het
Nupl1 A T 14: 60,244,670 probably benign Het
Ofcc1 A G 13: 40,142,787 S524P probably benign Het
Olfr986 C T 9: 40,187,139 T8I possibly damaging Het
Padi4 C T 4: 140,752,603 S413N probably damaging Het
Pdzrn4 A G 15: 92,771,013 *1015W probably null Het
Pkhd1 G A 1: 20,373,896 P2314L probably damaging Het
Serpinb9c C G 13: 33,151,834 V212L probably benign Het
Slc25a23 A G 17: 57,059,622 F18L probably damaging Het
Smarca4 C A 9: 21,658,955 N751K probably damaging Het
Tfip11 G T 5: 112,333,033 V292L probably benign Het
Tnrc18 T C 5: 142,765,947 K1201R unknown Het
Vmn1r199 T C 13: 22,383,501 F322L probably benign Het
Vmn1r201 T C 13: 22,474,679 V21A probably benign Het
Vmn2r108 A T 17: 20,462,845 I699K probably damaging Het
Vmn2r117 T C 17: 23,460,553 N566D probably damaging Het
Wdr12 A T 1: 60,088,072 D141E probably benign Het
Zfp974 A G 7: 27,911,209 S364P probably benign Het
Other mutations in Dbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02245:Dbx2 APN 15 95624747 missense probably damaging 1.00
IGL02747:Dbx2 APN 15 95632439 missense probably benign 0.06
R0610:Dbx2 UTSW 15 95624897 missense probably benign 0.01
R0646:Dbx2 UTSW 15 95654612 missense possibly damaging 0.53
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
Predicted Primers PCR Primer
(F):5'- TGGGGTACAAACCTGGCACAAG -3'
(R):5'- CAAGGAAGTCCAGCACTCAGATAGC -3'

Sequencing Primer
(F):5'- AGGATGCACCTTTCTCCTCA -3'
(R):5'- TTAAGCAACAGAGAACAGCCTG -3'
Posted On2014-05-23