Incidental Mutation 'IGL02675:Hoxd8'
ID303077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxd8
Ensembl Gene ENSMUSG00000027102
Gene Namehomeobox D8
SynonymsHox-4.3, 4921540P06Rik, Hox-5.4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02675
Quality Score
Status
Chromosome2
Chromosomal Location74704615-74707933 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 74706586 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 214 (L214R)
Ref Sequence ENSEMBL: ENSMUSP00000088094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019749] [ENSMUST00000074721] [ENSMUST00000151380]
Predicted Effect probably damaging
Transcript: ENSMUST00000019749
AA Change: L215R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019749
Gene: ENSMUSG00000027102
AA Change: L215R

DomainStartEndE-ValueType
low complexity region 62 89 N/A INTRINSIC
low complexity region 108 121 N/A INTRINSIC
HOX 195 257 1.69e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074721
AA Change: L214R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088094
Gene: ENSMUSG00000027102
AA Change: L214R

DomainStartEndE-ValueType
low complexity region 62 89 N/A INTRINSIC
low complexity region 108 121 N/A INTRINSIC
HOX 194 256 1.69e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145799
Predicted Effect probably damaging
Transcript: ENSMUST00000151380
AA Change: L33R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118904
Gene: ENSMUSG00000027102
AA Change: L33R

DomainStartEndE-ValueType
HOX 13 75 1.69e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156342
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and healthy but show minor and low penetrance homeotic transformations in both lumbar (L1 to T13) and thoracic (T8 to T7) vertebrae. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,483,540 I204T probably damaging Het
Anxa8 A G 14: 34,093,414 D150G probably damaging Het
Arel1 T C 12: 84,930,228 T438A probably damaging Het
Asphd1 T C 7: 126,946,834 probably benign Het
Bcl2l12 A T 7: 44,991,400 probably benign Het
Cand1 A G 10: 119,219,697 I87T probably damaging Het
Ccdc80 A C 16: 45,116,332 T707P probably damaging Het
Cdh9 T A 15: 16,849,076 probably null Het
Chrd T C 16: 20,739,949 probably benign Het
Cpn1 T C 19: 43,980,930 Q98R probably benign Het
D630045J12Rik A G 6: 38,195,485 S583P possibly damaging Het
Dnah7a A G 1: 53,504,024 I2329T possibly damaging Het
Egln3 A G 12: 54,203,210 S118P probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Hapln3 C T 7: 79,117,848 probably null Het
Heatr3 T C 8: 88,144,557 F180L possibly damaging Het
Herc2 T A 7: 56,164,101 S2661T probably damaging Het
Hook3 A T 8: 26,061,434 L126Q possibly damaging Het
Ifna1 T G 4: 88,850,433 L116R probably damaging Het
Il31ra T A 13: 112,524,352 T487S probably benign Het
Kifc2 C T 15: 76,662,979 R252W probably damaging Het
Meox2 A G 12: 37,178,334 D290G probably damaging Het
Micu2 A G 14: 57,945,377 probably benign Het
Myh9 T C 15: 77,788,930 T406A possibly damaging Het
Naip1 T A 13: 100,409,118 M1301L probably benign Het
Pbrm1 T C 14: 31,106,287 L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,283,959 A194E probably benign Het
Pdcd10 G A 3: 75,527,594 T130I probably damaging Het
Pprc1 G A 19: 46,063,507 G491D probably damaging Het
Prss57 A G 10: 79,787,475 V46A probably benign Het
Ptcd3 A G 6: 71,883,442 probably null Het
Riok1 C T 13: 38,050,243 P262S probably damaging Het
Rnf13 A G 3: 57,779,396 N70S probably benign Het
Skint7 T A 4: 111,981,981 D157E probably benign Het
Sri T C 5: 8,067,534 F191S probably damaging Het
Stat5b T C 11: 100,787,374 R638G probably benign Het
Suds3 C T 5: 117,094,905 probably null Het
Tmem19 A G 10: 115,342,573 L281P probably damaging Het
Tmf1 A G 6: 97,164,042 probably benign Het
Trio A G 15: 27,768,039 probably benign Het
Usp28 T C 9: 49,039,091 I940T possibly damaging Het
Wisp3 A G 10: 39,151,240 V332A possibly damaging Het
Zfp280d T A 9: 72,312,222 I227K probably benign Het
Zfp335 A G 2: 164,910,689 V45A probably benign Het
Other mutations in Hoxd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Hoxd8 APN 2 74706766 missense probably benign
IGL02801:Hoxd8 APN 2 74706568 missense probably damaging 1.00
R0086:Hoxd8 UTSW 2 74705932 missense probably damaging 1.00
R1944:Hoxd8 UTSW 2 74706712 missense probably damaging 1.00
R3848:Hoxd8 UTSW 2 74705585 missense possibly damaging 0.96
R3958:Hoxd8 UTSW 2 74706540 nonsense probably null
R6160:Hoxd8 UTSW 2 74705999 missense probably damaging 1.00
R7527:Hoxd8 UTSW 2 74705657 missense probably damaging 1.00
R8057:Hoxd8 UTSW 2 74704726 critical splice donor site probably null
Posted On2015-04-16