Incidental Mutation 'R1341:Hoxa13'
ID 157040
Institutional Source Beutler Lab
Gene Symbol Hoxa13
Ensembl Gene ENSMUSG00000038203
Gene Name homeobox A13
Synonyms Hox-1.10
MMRRC Submission 039406-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1341 (G1)
Quality Score 136
Status Not validated
Chromosome 6
Chromosomal Location 52235833-52237865 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CCG to CCGCG at 52237618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047993] [ENSMUST00000114416] [ENSMUST00000147595]
AlphaFold Q62424
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: ENSMUST00000192253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173368
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 96% (53/55)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0e2 A G 6: 48,517,045 (GRCm39) Y75C probably benign Het
Bltp3a T C 17: 28,096,393 (GRCm39) probably benign Het
Cacna1g A G 11: 94,324,582 (GRCm39) L1190P probably damaging Het
Ccdc190 A G 1: 169,757,586 (GRCm39) D15G probably damaging Het
Cep126 G T 9: 8,099,777 (GRCm39) P919Q possibly damaging Het
Cfhr4 T A 1: 139,660,131 (GRCm39) T665S probably damaging Het
Chchd6 A G 6: 89,361,623 (GRCm39) V260A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cramp1 T C 17: 25,196,514 (GRCm39) K867E probably damaging Het
Dnah6 A T 6: 73,168,602 (GRCm39) N440K probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm17421 A T 12: 113,333,334 (GRCm39) noncoding transcript Het
H2bc13 T C 13: 21,900,280 (GRCm39) K12E probably benign Het
Hdac3 A G 18: 38,087,766 (GRCm39) V36A probably damaging Het
Itga10 G A 3: 96,559,811 (GRCm39) E489K probably damaging Het
Mgat5b A C 11: 116,869,223 (GRCm39) I589L probably benign Het
Mindy4 A G 6: 55,232,601 (GRCm39) N348S probably benign Het
Mmp15 A G 8: 96,098,931 (GRCm39) D586G probably benign Het
Mmp9 A G 2: 164,791,247 (GRCm39) D139G probably damaging Het
Morc2a C A 11: 3,630,216 (GRCm39) L471I possibly damaging Het
Mycbp2 T A 14: 103,536,303 (GRCm39) probably benign Het
Mylip T A 13: 45,559,412 (GRCm39) S105T probably damaging Het
Nat8f4 A T 6: 85,878,406 (GRCm39) L39Q probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Obscn T C 11: 58,920,198 (GRCm39) probably benign Het
Or10ak13 T C 4: 118,639,579 (GRCm39) T68A probably benign Het
Or11m3 G A 15: 98,396,135 (GRCm39) V261M possibly damaging Het
Or51k2 T A 7: 103,596,589 (GRCm39) V272D possibly damaging Het
Or5t7 T C 2: 86,507,507 (GRCm39) M57V possibly damaging Het
Or9k2 G T 10: 129,999,185 (GRCm39) D3E probably benign Het
Pramel29 T C 4: 143,934,129 (GRCm39) D326G probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Rab11fip1 G T 8: 27,633,388 (GRCm39) A1106E probably damaging Het
Rfc1 A G 5: 65,448,537 (GRCm39) S363P probably damaging Het
Skint10 A G 4: 112,622,228 (GRCm39) probably benign Het
Spen T C 4: 141,196,711 (GRCm39) N3595D possibly damaging Het
Swsap1 A G 9: 21,868,450 (GRCm39) K241E probably benign Het
Tab1 A G 15: 80,044,315 (GRCm39) T448A possibly damaging Het
Tktl1 G T X: 73,241,289 (GRCm39) G302V probably damaging Het
Usp25 A G 16: 76,912,331 (GRCm39) T1017A probably benign Het
Vmn2r78 T A 7: 86,571,477 (GRCm39) M429K possibly damaging Het
Wdr49 A T 3: 75,336,640 (GRCm39) F356I probably damaging Het
Wnt1 T C 15: 98,689,764 (GRCm39) F184L probably damaging Het
Yy1 T C 12: 108,759,445 (GRCm39) I36T unknown Het
Zbtb39 A G 10: 127,579,369 (GRCm39) I648V 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
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
R1400:Hoxa13 UTSW 6 52,260,647 (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'- TAAAACAGCGCCACTGGGGTCTTC -3'

Sequencing Primer
(F):5'- TGCCGAAGTAGCCGTAGG -3'
(R):5'- ACTGGGGTCTTCTCCATGC -3'
Posted On 2014-02-11