Incidental Mutation 'R1157:Hoxa13'
ID101793
Institutional Source Beutler Lab
Gene Symbol Hoxa13
Ensembl Gene ENSMUSG00000038203
Gene Namehomeobox A13
SynonymsHox-1.10
MMRRC Submission 039230-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1157 (G1)
Quality Score148
Status Not validated
Chromosome6
Chromosomal Location52257694-52260880 bp(-) (GRCm38)
Type of Mutationframe shift
DNA Base Change (assembly) CCG to CCGCG at 52260635 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047993] [ENSMUST00000114416] [ENSMUST00000147595]
Predicted Effect probably null
Transcript: ENSMUST00000047993
SMART Domains Protein: ENSMUSP00000039170
Gene: ENSMUSG00000038203

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: ENSMUST00000173368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192253
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C A 3: 95,683,661 S332I possibly damaging Het
Alpl A G 4: 137,754,020 V107A probably damaging Het
Baz1a A T 12: 54,929,564 F442L probably damaging Het
Cachd1 T A 4: 100,974,840 M733K possibly damaging Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Cenpf A T 1: 189,658,453 C1061S probably benign Het
Crispld1 G A 1: 17,745,363 V90M possibly damaging Het
Ergic1 T A 17: 26,614,395 L41Q probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Gas2l2 G A 11: 83,423,328 P386L probably benign Het
Gm21726 T C 13: 90,583,605 noncoding transcript Het
Gm7257 G A 9: 36,432,847 C42Y probably benign Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Iqsec1 A G 6: 90,669,384 V771A possibly damaging Het
Klhl29 T C 12: 5,090,650 N664S possibly damaging Het
Krit1 T C 5: 3,832,176 Y659H probably damaging Het
Lap3 T A 5: 45,507,148 D373E probably damaging Het
Lrrc7 A G 3: 158,160,255 I1283T probably damaging Het
Lrrk1 T C 7: 66,262,283 Y1843C probably benign Het
Mapre1 T A 2: 153,758,017 D120E probably benign Het
Mgp A T 6: 136,873,206 M44K possibly damaging Het
Mrps25 A T 6: 92,183,966 M3K probably damaging Het
Myo3a G T 2: 22,542,414 probably null Het
Nedd9 C T 13: 41,314,503 probably null Het
Olfr371 G T 8: 85,231,260 C255F probably damaging Het
Olfr677 A G 7: 105,056,884 I213V probably benign Het
Olfr765 T G 10: 129,046,158 T302P probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pigs T C 11: 78,328,994 V65A possibly damaging Het
Pip5k1a G A 3: 95,078,112 T60I probably benign Het
Rp9 A T 9: 22,458,740 Y44N probably damaging Het
Tcea1 T A 1: 4,889,447 probably null Het
Trim33 C T 3: 103,353,830 T1098I probably damaging Het
Vmn2r114 T A 17: 23,310,340 I263F possibly damaging Het
Wdr12 A T 1: 60,078,230 S402R probably damaging Het
Zfp619 A G 7: 39,536,858 S771G probably damaging Het
Other mutations in Hoxa13
AlleleSourceChrCoordTypePredicted EffectPPH Score
H8786:Hoxa13 UTSW 6 52260636 frame shift probably null
PIT4131001:Hoxa13 UTSW 6 52260647 utr 5 prime probably benign
PIT4131001:Hoxa13 UTSW 6 52260648 utr 5 prime probably benign
PIT4142001:Hoxa13 UTSW 6 52260647 utr 5 prime probably benign
PIT4142001:Hoxa13 UTSW 6 52260648 utr 5 prime probably benign
R0458:Hoxa13 UTSW 6 52260635 frame shift probably null
R0496:Hoxa13 UTSW 6 52260635 frame shift probably null
R0502:Hoxa13 UTSW 6 52260635 frame shift probably null
R0512:Hoxa13 UTSW 6 52260635 frame shift probably null
R0784:Hoxa13 UTSW 6 52259937 missense probably damaging 0.98
R1062:Hoxa13 UTSW 6 52260635 frame shift probably null
R1192:Hoxa13 UTSW 6 52260635 frame shift probably null
R1310:Hoxa13 UTSW 6 52260635 frame shift probably null
R1341:Hoxa13 UTSW 6 52260635 frame shift probably null
R1343:Hoxa13 UTSW 6 52260635 frame shift probably null
R1398:Hoxa13 UTSW 6 52260647 utr 5 prime probably benign
R1398:Hoxa13 UTSW 6 52260648 utr 5 prime probably benign
R1400:Hoxa13 UTSW 6 52260647 utr 5 prime probably benign
R1400:Hoxa13 UTSW 6 52260648 utr 5 prime probably benign
R1450:Hoxa13 UTSW 6 52260647 utr 5 prime probably benign
R1450:Hoxa13 UTSW 6 52260648 utr 5 prime probably benign
R1632:Hoxa13 UTSW 6 52259937 missense probably damaging 0.98
R2382:Hoxa13 UTSW 6 52259145 missense probably damaging 0.98
R3149:Hoxa13 UTSW 6 52260304 intron probably benign
R4012:Hoxa13 UTSW 6 52259127 missense possibly damaging 0.47
R4426:Hoxa13 UTSW 6 52260729 utr 5 prime probably benign
R5535:Hoxa13 UTSW 6 52260540 frame shift probably null
R6175:Hoxa13 UTSW 6 52259928 missense probably damaging 0.98
R7365:Hoxa13 UTSW 6 52259882 missense probably damaging 1.00
X0018:Hoxa13 UTSW 6 52260119 missense probably benign 0.13
Predicted Primers
Posted On2014-01-15