Incidental Mutation 'R3958:Hoxd8'
ID 310793
Institutional Source Beutler Lab
Gene Symbol Hoxd8
Ensembl Gene ENSMUSG00000027102
Gene Name homeobox D8
Synonyms Hox-4.3, Hox-5.4, 4921540P06Rik
MMRRC Submission 040834-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3958 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 74534973-74538277 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 74536884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 18 (Q18*)
Ref Sequence ENSEMBL: ENSMUSP00000118904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019749] [ENSMUST00000074721] [ENSMUST00000151380]
AlphaFold P23463
Predicted Effect probably null
Transcript: ENSMUST00000019749
AA Change: Q200*
SMART Domains Protein: ENSMUSP00000019749
Gene: ENSMUSG00000027102
AA Change: Q200*

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 null
Transcript: ENSMUST00000074721
AA Change: Q199*
SMART Domains Protein: ENSMUSP00000088094
Gene: ENSMUSG00000027102
AA Change: Q199*

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 null
Transcript: ENSMUST00000151380
AA Change: Q18*
SMART Domains Protein: ENSMUSP00000118904
Gene: ENSMUSG00000027102
AA Change: Q18*

DomainStartEndE-ValueType
HOX 13 75 1.69e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156342
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 100% (37/37)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,652,738 (GRCm39) K266R probably benign Het
Cebpd T C 16: 15,705,327 (GRCm39) S47P possibly damaging Het
Celf4 A G 18: 25,670,811 (GRCm39) M124T probably benign Het
Ckap4 C T 10: 84,364,028 (GRCm39) R345H probably benign Het
Clasp1 T C 1: 118,395,611 (GRCm39) V183A probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etl4 A G 2: 20,344,854 (GRCm39) T53A probably benign Het
Glyat A T 19: 12,617,197 (GRCm39) K16N probably benign Het
Gm6522 T C 3: 106,206,120 (GRCm39) noncoding transcript Het
Grin1 G A 2: 25,203,465 (GRCm39) T182M probably damaging Het
Hcn4 T C 9: 58,751,331 (GRCm39) V319A unknown Het
Hmgcs2 T C 3: 98,204,793 (GRCm39) F317S possibly damaging Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Kmt2d G A 15: 98,753,430 (GRCm39) T141M possibly damaging Het
Lrp1 A G 10: 127,407,827 (GRCm39) S1821P probably benign Het
Neb T C 2: 52,153,641 (GRCm39) E2428G probably damaging Het
Nepn T C 10: 52,276,804 (GRCm39) V119A probably benign Het
Or4k41 G T 2: 111,280,230 (GRCm39) L248F possibly damaging Het
Otogl T C 10: 107,657,786 (GRCm39) D1048G probably damaging Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Ppp6r3 A T 19: 3,546,583 (GRCm39) V305D probably damaging Het
Prkg2 G T 5: 99,145,354 (GRCm39) T160K possibly damaging Het
Prmt8 G A 6: 127,709,707 (GRCm39) T51I probably benign Het
Rgl3 T C 9: 21,886,885 (GRCm39) probably benign Het
Sec23ip C G 7: 128,378,574 (GRCm39) T796S probably benign Het
Selp T C 1: 163,953,855 (GRCm39) S52P probably benign Het
Slc44a2 T C 9: 21,259,837 (GRCm39) I615T probably damaging Het
Snap91 T C 9: 86,720,183 (GRCm39) Y118C probably damaging Het
Tmem106b A T 6: 13,081,587 (GRCm39) N165Y probably damaging Het
Ucp3 A G 7: 100,131,946 (GRCm39) T266A probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Utrn T C 10: 12,625,852 (GRCm39) I110V probably damaging Het
Other mutations in Hoxd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Hoxd8 APN 2 74,537,110 (GRCm39) missense probably benign
IGL02675:Hoxd8 APN 2 74,536,930 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCCTCACACCCTATATCTGTATGAG -3'
(R):5'- ATTTGTGGGGCAGCCTTCAG -3'

Sequencing Primer
(F):5'- CTGTATGAGAATTAAAGACCACTGTG -3'
(R):5'- GACGCAGGAAACTTGTCTTTG -3'
Posted On 2015-04-29