Incidental Mutation 'R3872:Dlx5'
ID 276605
Institutional Source Beutler Lab
Gene Symbol Dlx5
Ensembl Gene ENSMUSG00000029755
Gene Name distal-less homeobox 5
Synonyms
MMRRC Submission 040790-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3872 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 6877801-6882068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6878209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 274 (P274T)
Ref Sequence ENSEMBL: ENSMUSP00000052559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052609] [ENSMUST00000142635]
AlphaFold P70396
Predicted Effect probably benign
Transcript: ENSMUST00000052609
AA Change: P274T

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052559
Gene: ENSMUSG00000029755
AA Change: P274T

DomainStartEndE-ValueType
Pfam:DLL_N 32 118 1.1e-26 PFAM
HOX 137 199 4.16e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142635
SMART Domains Protein: ENSMUSP00000138264
Gene: ENSMUSG00000029755

DomainStartEndE-ValueType
Pfam:DLL_N 32 118 1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204014
Meta Mutation Damage Score 0.0782 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants display multiple defects in craniofacial structures, including ears, nose, mandible and calvaria, and die shortly after birth, with some exhibiting exencephaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,045 (GRCm39) E1117G possibly damaging Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Bhmt-ps1 T C 4: 26,369,201 (GRCm39) noncoding transcript Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cic T C 7: 24,971,124 (GRCm39) V285A possibly damaging Het
Col19a1 A G 1: 24,614,408 (GRCm39) probably benign Het
Col6a4 T C 9: 105,890,858 (GRCm39) N1812S possibly damaging Het
Cry1 T C 10: 84,969,024 (GRCm39) probably null Het
Dlgap4 T C 2: 156,591,267 (GRCm39) S818P probably benign Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Dnah5 A G 15: 28,411,656 (GRCm39) K3675R possibly damaging Het
Dpp6 A G 5: 27,926,056 (GRCm39) Y710C probably damaging Het
Dsc3 C A 18: 20,104,565 (GRCm39) K587N probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Epcam C A 17: 87,947,354 (GRCm39) T36K possibly damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
Eya4 A T 10: 23,031,870 (GRCm39) I251N probably damaging Het
Fbxo21 G A 5: 118,138,394 (GRCm39) V447I possibly damaging Het
Firrm A T 1: 163,814,533 (GRCm39) S137T probably damaging Het
Frg2f1 T A 4: 119,388,155 (GRCm39) T115S possibly damaging Het
Hecw2 A T 1: 53,871,916 (GRCm39) probably benign Het
Igfals G A 17: 25,100,579 (GRCm39) V557I possibly damaging Het
Iqca1 A T 1: 90,017,203 (GRCm39) Y411N probably damaging Het
Itpa T G 2: 130,522,930 (GRCm39) S176A probably damaging Het
Klhl1 A G 14: 96,755,615 (GRCm39) F47L probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Krt34 T C 11: 99,932,243 (GRCm39) H27R probably benign Het
Mia3 T C 1: 183,138,342 (GRCm39) E791G probably benign Het
Mroh2b A T 15: 4,954,543 (GRCm39) K669* probably null Het
Msmo1 C T 8: 65,175,497 (GRCm39) probably null Het
Muc6 T C 7: 141,226,867 (GRCm39) T1387A probably benign Het
Myo1g C T 11: 6,464,886 (GRCm39) V463I possibly damaging Het
Or12d12 T A 17: 37,610,870 (GRCm39) T148S probably benign Het
Or4f6 T C 2: 111,838,668 (GRCm39) T288A possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or5l13 T A 2: 87,779,874 (GRCm39) R234S probably damaging Het
Pde10a C A 17: 8,975,923 (GRCm39) T16K possibly damaging Het
Pfas T C 11: 68,891,089 (GRCm39) T310A probably damaging Het
Phb2 G A 6: 124,693,394 (GRCm39) probably null Het
Plin3 A G 17: 56,591,181 (GRCm39) S200P probably damaging Het
Plxna1 C A 6: 89,309,674 (GRCm39) E1087* probably null Het
Rnf17 G T 14: 56,712,870 (GRCm39) R779L possibly damaging Het
Sacs C T 14: 61,385,517 (GRCm39) T6M probably benign Het
Scfd1 A G 12: 51,438,979 (GRCm39) Y147C probably damaging Het
Septin1 T C 7: 126,814,447 (GRCm39) probably benign Het
Septin5 A G 16: 18,441,723 (GRCm39) L344P probably damaging Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Slc35f1 A G 10: 52,898,006 (GRCm39) D139G possibly damaging Het
Sod3 A G 5: 52,525,631 (GRCm39) Y110C probably damaging Het
Stk35 T C 2: 129,652,495 (GRCm39) V332A possibly damaging Het
Tacc2 C T 7: 130,224,152 (GRCm39) T279M probably benign Het
Tdo2 T C 3: 81,875,393 (GRCm39) E187G probably benign Het
Tmem150b A T 7: 4,727,360 (GRCm39) Y48* probably null Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vmn2r60 C T 7: 41,785,878 (GRCm39) S227L probably benign Het
Vps33a C T 5: 123,669,255 (GRCm39) V549I probably benign Het
Zfp788 T A 7: 41,298,868 (GRCm39) Y449* probably null Het
Other mutations in Dlx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Dlx5 APN 6 6,881,762 (GRCm39) missense probably damaging 1.00
IGL02937:Dlx5 APN 6 6,881,755 (GRCm39) missense probably damaging 1.00
R0197:Dlx5 UTSW 6 6,881,619 (GRCm39) missense possibly damaging 0.89
R1997:Dlx5 UTSW 6 6,879,680 (GRCm39) missense possibly damaging 0.69
R4475:Dlx5 UTSW 6 6,881,663 (GRCm39) missense probably damaging 1.00
R6936:Dlx5 UTSW 6 6,879,585 (GRCm39) missense probably damaging 1.00
R7463:Dlx5 UTSW 6 6,878,316 (GRCm39) missense probably damaging 1.00
R7499:Dlx5 UTSW 6 6,878,341 (GRCm39) missense probably benign
R7499:Dlx5 UTSW 6 6,878,340 (GRCm39) missense possibly damaging 0.68
R8861:Dlx5 UTSW 6 6,878,233 (GRCm39) missense probably benign
Z1088:Dlx5 UTSW 6 6,879,607 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATAGTGTCCACAGTTGCGC -3'
(R):5'- GTGTAACTCGCCACAGTCAC -3'

Sequencing Primer
(F):5'- CGGGGCTCTCTGAAATGCAATAAC -3'
(R):5'- TCGCCACAGTCACCAGCG -3'
Posted On 2015-04-06