Incidental Mutation 'R5535:Hoxd13'
ID 434759
Institutional Source Beutler Lab
Gene Symbol Hoxd13
Ensembl Gene ENSMUSG00000001819
Gene Name homeobox D13
Synonyms spdh, Hox-4.8
MMRRC Submission 043093-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.630) question?
Stock # R5535 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 74498654-74501943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74499141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 163 (Y163F)
Ref Sequence ENSEMBL: ENSMUSP00000001872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001872]
AlphaFold P70217
Predicted Effect probably damaging
Transcript: ENSMUST00000001872
AA Change: Y163F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001872
Gene: ENSMUSG00000001819
AA Change: Y163F

DomainStartEndE-ValueType
low complexity region 14 34 N/A INTRINSIC
Pfam:HoxA13_N 75 177 4e-18 PFAM
HOX 272 334 4.33e-22 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
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. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit abnormalities of the axial skeleton, especially limbs, and of the male accessory organs, and agenesis of the preputial glands. Mutant males are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b C T 9: 118,977,474 (GRCm39) G403S probably damaging Het
Agbl2 G A 2: 90,640,350 (GRCm39) V699I probably benign Het
Amer2 AAGGAGGAGGAGGAG AAGGAGGAGGAG 14: 60,616,302 (GRCm39) probably benign Het
Bace2 A T 16: 97,214,625 (GRCm39) Q271L probably damaging Het
Btn2a2 T C 13: 23,662,445 (GRCm39) K493E probably benign Het
Ces3a T A 8: 105,778,196 (GRCm39) D222E probably benign Het
Ckap2l A G 2: 129,127,762 (GRCm39) C139R probably benign Het
Clip4 A G 17: 72,138,257 (GRCm39) H485R probably benign Het
Cntfr T A 4: 41,663,216 (GRCm39) D197V probably benign Het
Efcab5 A G 11: 77,042,747 (GRCm39) L2P probably damaging Het
Elmo2 A G 2: 165,152,132 (GRCm39) V163A possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Flrt2 A G 12: 95,747,200 (GRCm39) T513A probably benign Het
Gm10801 GT GTTTTT 2: 98,492,844 (GRCm39) probably null Het
Hectd1 A T 12: 51,849,109 (GRCm39) F332I probably damaging Het
Helz A G 11: 107,536,946 (GRCm39) D947G probably damaging Het
Hivep2 T A 10: 14,006,766 (GRCm39) D1121E probably benign Het
Hoxa13 GG GGCG 6: 52,237,520 (GRCm39) probably null Homo
Immt C A 6: 71,829,768 (GRCm39) P158Q probably null Het
Kcnh5 A G 12: 75,177,681 (GRCm39) S142P possibly damaging Het
Lnpep T G 17: 17,758,956 (GRCm39) H796P probably benign Het
Mfhas1 C A 8: 36,057,423 (GRCm39) R633S possibly damaging Het
Mmp25 A G 17: 23,863,734 (GRCm39) L32P probably benign Het
Myo15b A G 11: 115,772,127 (GRCm39) D299G probably damaging Het
Myo18b T C 5: 112,937,908 (GRCm39) E1739G probably damaging Het
Or8b44 T A 9: 38,410,294 (GRCm39) S110T probably benign Het
Parp9 A G 16: 35,777,195 (GRCm39) K147E probably damaging Het
Pcdha3 G T 18: 37,080,989 (GRCm39) R577L probably benign Het
Plod2 T A 9: 92,488,622 (GRCm39) I637N probably damaging Het
Polk T G 13: 96,632,005 (GRCm39) S243R probably damaging Het
Prag1 T C 8: 36,571,168 (GRCm39) S584P probably benign Het
Prex1 A T 2: 166,422,193 (GRCm39) V43E possibly damaging Het
Rdh10 T C 1: 16,201,408 (GRCm39) Y294H probably damaging Het
Rnf126 T A 10: 79,598,533 (GRCm39) I28F probably damaging Het
Sdk2 T A 11: 113,833,984 (GRCm39) H66L possibly damaging Het
Tet1 G T 10: 62,668,686 (GRCm39) P1431Q probably damaging Het
Tmco2 T A 4: 120,963,190 (GRCm39) Q103L possibly damaging Het
Ucp3 A T 7: 100,129,873 (GRCm39) R172W probably benign Het
Unc79 A T 12: 103,135,962 (GRCm39) I2270F possibly damaging Het
Other mutations in Hoxd13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03108:Hoxd13 APN 2 74,500,440 (GRCm39) missense probably damaging 1.00
R1722:Hoxd13 UTSW 2 74,500,389 (GRCm39) missense probably benign 0.34
R2163:Hoxd13 UTSW 2 74,499,413 (GRCm39) missense possibly damaging 0.82
R4116:Hoxd13 UTSW 2 74,498,832 (GRCm39) missense possibly damaging 0.93
R4400:Hoxd13 UTSW 2 74,500,359 (GRCm39) missense probably damaging 1.00
R4424:Hoxd13 UTSW 2 74,500,301 (GRCm39) nonsense probably null
R4938:Hoxd13 UTSW 2 74,499,027 (GRCm39) missense probably benign 0.26
R7054:Hoxd13 UTSW 2 74,499,369 (GRCm39) missense probably damaging 1.00
R7069:Hoxd13 UTSW 2 74,499,368 (GRCm39) missense probably damaging 1.00
R7677:Hoxd13 UTSW 2 74,498,909 (GRCm39) missense probably benign 0.39
R8329:Hoxd13 UTSW 2 74,498,661 (GRCm39) missense probably benign 0.06
R8906:Hoxd13 UTSW 2 74,500,266 (GRCm39) missense
R9130:Hoxd13 UTSW 2 74,499,382 (GRCm39) missense probably benign 0.02
R9386:Hoxd13 UTSW 2 74,499,327 (GRCm39) missense probably damaging 1.00
R9803:Hoxd13 UTSW 2 74,499,247 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TCCTGTGGCCAAAGAGTGTC -3'
(R):5'- CACAGTACACCTGGCTGTTC -3'

Sequencing Primer
(F):5'- AAAGAGTGTCCCGCGCCAG -3'
(R):5'- TAGCCCTCCATGGAGATGTATGC -3'
Posted On 2016-10-24