Incidental Mutation 'R1400:Hoxa13'
ID 160324
Institutional Source Beutler Lab
Gene Symbol Hoxa13
Ensembl Gene ENSMUSG00000038203
Gene Name homeobox A13
Synonyms Hox-1.10
MMRRC Submission 039462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1400 (G1)
Quality Score 95
Status Not validated
Chromosome 6
Chromosomal Location 52235833-52237865 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to G at 52260647 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047993] [ENSMUST00000114416] [ENSMUST00000147595]
AlphaFold Q62424
Predicted Effect unknown
Transcript: ENSMUST00000047993
AA Change: R43P
SMART Domains Protein: ENSMUSP00000039170
Gene: ENSMUSG00000038203
AA Change: R43P

DomainStartEndE-ValueType
low complexity region 37 81 N/A INTRINSIC
Pfam:HoxA13_N 136 219 6.2e-25 PFAM
HOX 317 379 1.16e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114416
SMART Domains Protein: ENSMUSP00000110059
Gene: ENSMUSG00000038203

DomainStartEndE-ValueType
Pfam:HoxA13_N 1 55 1e-19 PFAM
HOX 153 215 1.16e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141300
Predicted Effect probably benign
Transcript: ENSMUST00000147595
SMART Domains Protein: ENSMUSP00000125221
Gene: ENSMUSG00000038203

DomainStartEndE-ValueType
Pfam:HoxA13_N 1 39 8.3e-11 PFAM
HOX 137 199 1.16e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185112
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit agenesis of both the urinary bladder and the caudal portion of the Mullerian ducts, premature stenosis of the umbilical arteries, loss of the most anterior digit of all feet, and death around mid-gestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,191,195 (GRCm39) E78G probably damaging Het
Acsf2 T C 11: 94,461,142 (GRCm39) I345V probably benign Het
Akap11 T A 14: 78,751,402 (GRCm39) K328N probably damaging Het
Aoc1 T A 6: 48,883,217 (GRCm39) Y364* probably null Het
Aoc1 A T 6: 48,883,645 (GRCm39) Q507L probably benign Het
Atp6v1c2 T C 12: 17,339,131 (GRCm39) T207A probably benign Het
Atr C A 9: 95,744,901 (GRCm39) Q73K probably benign Het
Cage1 A G 13: 38,216,400 (GRCm39) S17P possibly damaging Het
Cfap44 A T 16: 44,241,575 (GRCm39) I649F probably benign Het
Cops4 A G 5: 100,681,412 (GRCm39) K200R probably damaging Het
Crygd A G 1: 65,102,367 (GRCm39) S32P probably damaging Het
Cyp3a11 A G 5: 145,799,299 (GRCm39) I296T probably damaging Het
Fads3 A G 19: 10,033,664 (GRCm39) probably null Het
Fbn2 T C 18: 58,213,265 (GRCm39) E974G possibly damaging Het
Gcgr A G 11: 120,425,812 (GRCm39) H45R probably benign Het
Gcn1 T C 5: 115,752,220 (GRCm39) I2112T probably damaging Het
Gm43302 A T 5: 105,422,622 (GRCm39) I470N probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Krt13 C A 11: 100,012,110 (GRCm39) G71V probably damaging Het
Las1l T C X: 94,990,506 (GRCm39) T390A possibly damaging Het
Lifr T A 15: 7,220,346 (GRCm39) V992E probably benign Het
Mbd5 T C 2: 49,164,788 (GRCm39) probably null Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Ndst3 A G 3: 123,350,477 (GRCm39) F636S probably damaging Het
Necab1 T C 4: 14,975,185 (GRCm39) D232G possibly damaging Het
Nlrp4e A T 7: 23,021,085 (GRCm39) E524V possibly damaging Het
Nxf3 T A X: 134,976,794 (GRCm39) T349S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or4c12 T A 2: 89,773,886 (GRCm39) H191L possibly damaging Het
Or4n5 A T 14: 50,133,148 (GRCm39) I37K possibly damaging Het
Or7g29 A G 9: 19,286,358 (GRCm39) V273A probably damaging Het
Or9g19 T C 2: 85,600,477 (GRCm39) C111R possibly damaging Het
Plscr1l1 G T 9: 92,233,180 (GRCm39) C25F probably benign Het
Ppm1e T A 11: 87,122,592 (GRCm39) N455I probably damaging Het
Prkag2 G A 5: 25,078,916 (GRCm39) T158I probably damaging Het
Ptpn18 T C 1: 34,502,587 (GRCm39) probably null Het
Rai14 T G 15: 10,571,634 (GRCm39) K936N probably damaging Het
Rasgrf2 A G 13: 92,035,808 (GRCm39) L1077P probably damaging Het
Rgn C A X: 20,416,696 (GRCm39) Q27K probably benign Het
Ryr2 C T 13: 11,609,962 (GRCm39) S723N probably benign Het
Scamp1 A G 13: 94,361,455 (GRCm39) F142L possibly damaging Het
Selenon A G 4: 134,278,829 (GRCm39) V67A probably benign Het
Slc5a5 T C 8: 71,342,079 (GRCm39) I292V possibly damaging Het
Smarca2 C A 19: 26,654,140 (GRCm39) T775K probably damaging Het
Stab1 C T 14: 30,861,787 (GRCm39) V2437I possibly damaging Het
Tas2r143 C T 6: 42,377,317 (GRCm39) A49V probably benign Het
Tlr7 T A X: 166,090,845 (GRCm39) N214Y probably damaging Het
Unc13a C A 8: 72,103,865 (GRCm39) D856Y probably damaging Het
Upp2 T C 2: 58,680,118 (GRCm39) Y263H probably damaging Het
Vill T C 9: 118,892,415 (GRCm39) S349P probably benign Het
Zfp644 T C 5: 106,785,336 (GRCm39) probably null Het
Zfp664 T C 5: 124,963,217 (GRCm39) C204R unknown Het
Zfp729b A G 13: 67,740,913 (GRCm39) Y451H possibly damaging Het
Other mutations in Hoxa13
AlleleSourceChrCoordTypePredicted EffectPPH Score
H8786:Hoxa13 UTSW 6 52,260,636 (GRCm38) frame shift probably null
PIT4131001:Hoxa13 UTSW 6 52,260,648 (GRCm38) utr 5 prime probably benign
PIT4131001:Hoxa13 UTSW 6 52,260,647 (GRCm38) utr 5 prime probably benign
PIT4142001:Hoxa13 UTSW 6 52,260,648 (GRCm38) utr 5 prime probably benign
PIT4142001:Hoxa13 UTSW 6 52,260,647 (GRCm38) utr 5 prime probably benign
R0458:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R0496:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R0502:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R0512:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R0784:Hoxa13 UTSW 6 52,236,917 (GRCm39) missense probably damaging 0.98
R1062:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R1157:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R1192:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R1310:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R1341:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R1343:Hoxa13 UTSW 6 52,237,618 (GRCm39) frame shift probably null
R1398:Hoxa13 UTSW 6 52,260,648 (GRCm38) utr 5 prime probably benign
R1398:Hoxa13 UTSW 6 52,260,647 (GRCm38) utr 5 prime probably benign
R1400:Hoxa13 UTSW 6 52,260,648 (GRCm38) utr 5 prime probably benign
R1450:Hoxa13 UTSW 6 52,260,648 (GRCm38) utr 5 prime probably benign
R1450:Hoxa13 UTSW 6 52,260,647 (GRCm38) utr 5 prime probably benign
R1632:Hoxa13 UTSW 6 52,236,917 (GRCm39) missense probably damaging 0.98
R2382:Hoxa13 UTSW 6 52,236,125 (GRCm39) missense probably damaging 0.98
R3149:Hoxa13 UTSW 6 52,237,284 (GRCm39) intron probably benign
R4012:Hoxa13 UTSW 6 52,236,107 (GRCm39) missense possibly damaging 0.47
R4426:Hoxa13 UTSW 6 52,237,714 (GRCm39) utr 5 prime probably benign
R5535:Hoxa13 UTSW 6 52,237,520 (GRCm39) frame shift probably null
R6175:Hoxa13 UTSW 6 52,236,908 (GRCm39) missense probably damaging 0.98
R7365:Hoxa13 UTSW 6 52,236,862 (GRCm39) missense probably damaging 1.00
R7770:Hoxa13 UTSW 6 52,237,247 (GRCm39) critical splice acceptor site probably benign
R7926:Hoxa13 UTSW 6 52,237,619 (GRCm39) frame shift probably null
R7931:Hoxa13 UTSW 6 52,237,620 (GRCm39) frame shift probably null
R8960:Hoxa13 UTSW 6 52,236,976 (GRCm39) missense probably benign 0.03
R8982:Hoxa13 UTSW 6 52,235,916 (GRCm39) nonsense probably null
R9060:Hoxa13 UTSW 6 52,236,897 (GRCm39) missense probably damaging 1.00
R9698:Hoxa13 UTSW 6 52,236,024 (GRCm39) missense probably benign 0.00
X0018:Hoxa13 UTSW 6 52,237,099 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TGCGTAGCCCTGATGGTAGAAAGC -3'
(R):5'- TTAAAACAGCGCCACTGGGGTC -3'

Sequencing Primer
(F):5'- TGCCGAAGTAGCCGTAGG -3'
(R):5'- ACTGGGGTCTTCTCCATGC -3'
Posted On 2014-03-14