Incidental Mutation 'IGL02801:Hoxd8'
ID360194
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 #IGL02801
Quality Score
Status
Chromosome2
Chromosomal Location74704615-74707933 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74706568 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 27 (E27G)
Ref Sequence ENSEMBL: ENSMUSP00000118904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019749] [ENSMUST00000074721] [ENSMUST00000151380]
Predicted Effect probably damaging
Transcript: ENSMUST00000019749
AA Change: E209G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019749
Gene: ENSMUSG00000027102
AA Change: E209G

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: E208G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088094
Gene: ENSMUSG00000027102
AA Change: E208G

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: E27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118904
Gene: ENSMUSG00000027102
AA Change: E27G

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Bmi1 T C 2: 18,681,881 Y24H probably damaging Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Isl2 A G 9: 55,545,532 probably null Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Melk T C 4: 44,360,930 I570T probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Ranbp3 T C 17: 56,710,766 V474A probably benign Het
Rnf220 C T 4: 117,273,251 C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 I99V probably benign Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Syncrip A T 9: 88,479,809 D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Tmem229a T A 6: 24,955,122 Q211L probably benign Het
Txlna T C 4: 129,640,408 D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null Het
Other mutations in Hoxd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Hoxd8 APN 2 74706766 missense probably benign
IGL02675:Hoxd8 APN 2 74706586 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
Posted On2015-12-18