Incidental Mutation 'IGL02675:Hoxd8'
ID 303077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoxd8
Ensembl Gene ENSMUSG00000027102
Gene Name homeobox D8
Synonyms Hox-4.3, Hox-5.4, 4921540P06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02675
Quality Score
Status
Chromosome 2
Chromosomal Location 74534973-74538277 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74536930 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P23463
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: 71,936,184 (GRCm39) I204T probably damaging Het
Anxa8 A G 14: 33,815,371 (GRCm39) D150G probably damaging Het
Arel1 T C 12: 84,977,002 (GRCm39) T438A probably damaging Het
Asphd1 T C 7: 126,546,006 (GRCm39) probably benign Het
Bcl2l12 A T 7: 44,640,824 (GRCm39) probably benign Het
Cand1 A G 10: 119,055,602 (GRCm39) I87T probably damaging Het
Ccdc80 A C 16: 44,936,695 (GRCm39) T707P probably damaging Het
Ccn6 A G 10: 39,027,236 (GRCm39) V332A possibly damaging Het
Cdh9 T A 15: 16,849,162 (GRCm39) probably null Het
Chrd T C 16: 20,558,699 (GRCm39) probably benign Het
Cpn1 T C 19: 43,969,369 (GRCm39) Q98R probably benign Het
D630045J12Rik A G 6: 38,172,420 (GRCm39) S583P possibly damaging Het
Dnah7a A G 1: 53,543,183 (GRCm39) I2329T possibly damaging Het
Egln3 A G 12: 54,249,996 (GRCm39) S118P probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Hapln3 C T 7: 78,767,596 (GRCm39) probably null Het
Heatr3 T C 8: 88,871,185 (GRCm39) F180L possibly damaging Het
Herc2 T A 7: 55,813,849 (GRCm39) S2661T probably damaging Het
Hook3 A T 8: 26,551,462 (GRCm39) L126Q possibly damaging Het
Ifna1 T G 4: 88,768,670 (GRCm39) L116R probably damaging Het
Il31ra T A 13: 112,660,886 (GRCm39) T487S probably benign Het
Kifc2 C T 15: 76,547,179 (GRCm39) R252W probably damaging Het
Meox2 A G 12: 37,228,333 (GRCm39) D290G probably damaging Het
Micu2 A G 14: 58,182,834 (GRCm39) probably benign Het
Myh9 T C 15: 77,673,130 (GRCm39) T406A possibly damaging Het
Naip1 T A 13: 100,545,626 (GRCm39) M1301L probably benign Het
Pbrm1 T C 14: 30,828,244 (GRCm39) L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,261,323 (GRCm39) A194E probably benign Het
Pdcd10 G A 3: 75,434,901 (GRCm39) T130I probably damaging Het
Pprc1 G A 19: 46,051,946 (GRCm39) G491D probably damaging Het
Prss57 A G 10: 79,623,309 (GRCm39) V46A probably benign Het
Ptcd3 A G 6: 71,860,426 (GRCm39) probably null Het
Riok1 C T 13: 38,234,219 (GRCm39) P262S probably damaging Het
Rnf13 A G 3: 57,686,817 (GRCm39) N70S probably benign Het
Skint7 T A 4: 111,839,178 (GRCm39) D157E probably benign Het
Sri T C 5: 8,117,534 (GRCm39) F191S probably damaging Het
Stat5b T C 11: 100,678,200 (GRCm39) R638G probably benign Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Tmem19 A G 10: 115,178,478 (GRCm39) L281P probably damaging Het
Tmf1 A G 6: 97,141,003 (GRCm39) probably benign Het
Trio A G 15: 27,768,125 (GRCm39) probably benign Het
Usp28 T C 9: 48,950,391 (GRCm39) I940T possibly damaging Het
Zfp280d T A 9: 72,219,504 (GRCm39) I227K probably benign Het
Zfp335 A G 2: 164,752,609 (GRCm39) V45A probably benign Het
Other mutations in Hoxd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Hoxd8 APN 2 74,537,110 (GRCm39) missense probably benign
IGL02801:Hoxd8 APN 2 74,536,912 (GRCm39) missense probably damaging 1.00
R0086:Hoxd8 UTSW 2 74,536,276 (GRCm39) missense probably damaging 1.00
R1944:Hoxd8 UTSW 2 74,537,056 (GRCm39) missense probably damaging 1.00
R3848:Hoxd8 UTSW 2 74,535,929 (GRCm39) missense possibly damaging 0.96
R3958:Hoxd8 UTSW 2 74,536,884 (GRCm39) nonsense probably null
R6160:Hoxd8 UTSW 2 74,536,343 (GRCm39) missense probably damaging 1.00
R7527:Hoxd8 UTSW 2 74,536,001 (GRCm39) missense probably damaging 1.00
R7967:Hoxd8 UTSW 2 74,536,378 (GRCm39) missense probably damaging 1.00
R8057:Hoxd8 UTSW 2 74,535,070 (GRCm39) critical splice donor site probably null
R8807:Hoxd8 UTSW 2 74,536,313 (GRCm39) missense probably damaging 0.98
R9265:Hoxd8 UTSW 2 74,536,115 (GRCm39) missense probably benign
R9331:Hoxd8 UTSW 2 74,535,942 (GRCm39) intron probably benign
Posted On 2015-04-16