Incidental Mutation 'R9386:Hoxd13'
ID 710307
Institutional Source Beutler Lab
Gene Symbol Hoxd13
Ensembl Gene ENSMUSG00000001819
Gene Name homeobox D13
Synonyms spdh, Hox-4.8
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # R9386 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 74498654-74501943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74499327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 225 (Y225C)
Ref Sequence ENSEMBL: ENSMUSP00000001872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001872]
AlphaFold P70217
Predicted Effect probably damaging
Transcript: ENSMUST00000001872
AA Change: Y225C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001872
Gene: ENSMUSG00000001819
AA Change: Y225C

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: 99.7%
  • 20x: 99.0%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T A 10: 10,274,708 (GRCm39) M750L probably benign Het
Ahnak2 T A 12: 112,745,428 (GRCm39) H673L Het
Alg1 T C 16: 5,059,201 (GRCm39) L338P probably damaging Het
Anapc1 A C 2: 128,459,642 (GRCm39) S1806A probably benign Het
Anks1 C T 17: 28,272,880 (GRCm39) T925I probably benign Het
Aoc1l1 A G 6: 48,952,324 (GRCm39) N83S probably benign Het
Apob G A 12: 8,056,629 (GRCm39) A1704T probably damaging Het
Arnt G A 3: 95,395,687 (GRCm39) V422M possibly damaging Het
Cblb C A 16: 51,986,701 (GRCm39) S648* probably null Het
Cdk18 A G 1: 132,044,183 (GRCm39) probably null Het
Celsr1 T C 15: 85,863,231 (GRCm39) D1267G probably damaging Het
Chtf18 C T 17: 25,942,732 (GRCm39) R399H probably damaging Het
Cntnap1 T A 11: 101,076,052 (GRCm39) Y979N probably damaging Het
Col22a1 T C 15: 71,853,794 (GRCm39) D256G probably damaging Het
Dbn1 C T 13: 55,629,760 (GRCm39) R174Q probably damaging Het
Dnah10 G A 5: 124,871,507 (GRCm39) probably null Het
Dnah9 T A 11: 65,838,368 (GRCm39) D3143V probably damaging Het
Dnajc6 G A 4: 101,494,098 (GRCm39) probably null Het
Dsg1b A G 18: 20,525,071 (GRCm39) N169S possibly damaging Het
Eloa A G 4: 135,737,847 (GRCm39) V371A probably benign Het
Epb41l4b A T 4: 57,076,553 (GRCm39) V327E probably damaging Het
Fbxo15 A T 18: 84,977,372 (GRCm39) T140S probably benign Het
Fryl A T 5: 73,349,152 (GRCm39) F3L unknown Het
Galnt16 T C 12: 80,644,880 (GRCm39) V501A probably damaging Het
Haus6 A G 4: 86,502,101 (GRCm39) I590T probably benign Het
Hcfc2 T A 10: 82,574,937 (GRCm39) F199I probably damaging Het
Hydin T C 8: 111,314,362 (GRCm39) L4282P probably benign Het
Ing2 T C 8: 48,127,561 (GRCm39) E52G probably benign Het
Itsn2 T C 12: 4,679,730 (GRCm39) S180P unknown Het
Kansl1l T C 1: 66,765,129 (GRCm39) E727G probably damaging Het
Klhl26 A G 8: 70,904,156 (GRCm39) F585L probably benign Het
Lce1a1 T G 3: 92,554,190 (GRCm39) S95R unknown Het
Lrp1b A T 2: 41,013,640 (GRCm39) V1955E Het
Megf6 G A 4: 154,340,534 (GRCm39) G583E probably damaging Het
Mex3a A G 3: 88,443,505 (GRCm39) I194V possibly damaging Het
Mmp10 A T 9: 7,503,388 (GRCm39) Y116F probably damaging Het
Muc2 A T 7: 141,279,389 (GRCm39) D155V probably damaging Het
Ncam2 T C 16: 81,252,252 (GRCm39) C232R probably damaging Het
Nopchap1 T C 10: 83,196,129 (GRCm39) F3L probably benign Het
Or13n4 T C 7: 106,423,707 (GRCm39) I9V probably benign Het
Pdgfd C A 9: 6,293,903 (GRCm39) A159E possibly damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plekha8 C A 6: 54,605,846 (GRCm39) T307K probably damaging Het
Pnpla6 T C 8: 3,571,417 (GRCm39) probably null Het
Prkdc T G 16: 15,496,136 (GRCm39) S776A probably damaging Het
Prrc2b T C 2: 32,104,125 (GRCm39) I1201T probably benign Het
Pxmp4 C A 2: 154,430,004 (GRCm39) M128I probably benign Het
Siglech T C 7: 55,422,312 (GRCm39) S306P probably benign Het
Strc C T 2: 121,198,211 (GRCm39) E1449K probably damaging Het
Tchh A T 3: 93,354,346 (GRCm39) Q1262L unknown Het
Tln2 A T 9: 67,273,249 (GRCm39) D410E possibly damaging Het
Tmem175 A T 5: 108,787,339 (GRCm39) Q62L probably benign Het
Tpm3-rs7 A C 14: 113,552,597 (GRCm39) M164L probably benign Het
Trav8d-2 G A 14: 53,280,220 (GRCm39) R70H probably damaging Het
Tsc1 T C 2: 28,561,858 (GRCm39) S332P probably benign Het
Ttc41 T G 10: 86,548,890 (GRCm39) I28R probably damaging Het
Unc93a2 C T 17: 7,637,164 (GRCm39) W341* probably null Het
Vsig10 A C 5: 117,463,140 (GRCm39) Y122S probably damaging Het
Wnk2 A G 13: 49,220,822 (GRCm39) W1260R probably 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
R5535:Hoxd13 UTSW 2 74,499,141 (GRCm39) missense probably damaging 0.99
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
R9803:Hoxd13 UTSW 2 74,499,247 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- AGAACGCTCTCAAGTCGTCC -3'
(R):5'- CAGGCCTGGAATATAAGTAACCACTC -3'

Sequencing Primer
(F):5'- TTCCCGGTGGAGAAGTACATG -3'
(R):5'- TCCAAAAATGGGACCCCT -3'
Posted On 2022-04-18