Incidental Mutation 'R7087:Hoxa4'
ID 549952
Institutional Source Beutler Lab
Gene Symbol Hoxa4
Ensembl Gene ENSMUSG00000000942
Gene Name homeobox A4
Synonyms Hox-1.4
MMRRC Submission 045181-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.490) question?
Stock # R7087 (G1)
Quality Score 189.009
Status Not validated
Chromosome 6
Chromosomal Location 52166662-52168683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52168271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 133 (T133M)
Ref Sequence ENSEMBL: ENSMUSP00000098943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101395] [ENSMUST00000114434] [ENSMUST00000128102]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000101395
AA Change: T133M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098943
Gene: ENSMUSG00000000942
AA Change: T133M

DomainStartEndE-ValueType
low complexity region 14 23 N/A INTRINSIC
low complexity region 25 45 N/A INTRINSIC
low complexity region 48 95 N/A INTRINSIC
low complexity region 101 126 N/A INTRINSIC
HOX 180 242 1.52e-26 SMART
low complexity region 265 275 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114434
SMART Domains Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560

DomainStartEndE-ValueType
low complexity region 76 131 N/A INTRINSIC
HOX 192 254 3.35e-28 SMART
low complexity region 287 302 N/A INTRINSIC
low complexity region 304 326 N/A INTRINSIC
Pfam:DUF4074 377 441 9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128102
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (43/44)
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to homeotic transformation of cervical vertebrae. Mice homozygous for a knock-out allele also exhibit a hunched appearance of the pectoral girdle. Mice homozygous for a different knock-out allele show additionalsternal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T A 7: 119,373,870 (GRCm39) V252D probably damaging Het
Adprhl1 A G 8: 13,271,856 (GRCm39) L1634P probably damaging Het
Arhgef4 A T 1: 34,850,767 (GRCm39) R438W probably damaging Het
Asb3 A C 11: 30,948,321 (GRCm39) K38T probably benign Het
Atp1a4 A T 1: 172,074,269 (GRCm39) L328Q probably damaging Het
BC030500 T A 8: 59,365,388 (GRCm39) I13N unknown Het
Cbarp A G 10: 79,972,242 (GRCm39) S136P probably damaging Het
Ccdc18 T A 5: 108,343,988 (GRCm39) D910E probably benign Het
Cenpo C T 12: 4,265,307 (GRCm39) E238K probably benign Het
Cmya5 A G 13: 93,227,483 (GRCm39) V2535A probably benign Het
Ddx39b C T 17: 35,472,025 (GRCm39) R355C probably damaging Het
Dock10 T C 1: 80,570,543 (GRCm39) T338A probably benign Het
Dpysl3 T C 18: 43,496,595 (GRCm39) D147G probably damaging Het
Eif3i G T 4: 129,486,104 (GRCm39) H284Q probably damaging Het
Erbb4 A T 1: 68,779,650 (GRCm39) L42Q probably null Het
Exoc3l2 A G 7: 19,203,582 (GRCm39) E58G Het
Fgf18 C T 11: 33,074,677 (GRCm39) R98Q probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gp2 T A 7: 119,049,455 (GRCm39) T361S probably damaging Het
Gtsf1 A T 15: 103,333,876 (GRCm39) H33Q probably damaging Het
Hspb7 C A 4: 141,149,866 (GRCm39) T84K possibly damaging Het
Kcnq4 C T 4: 120,561,596 (GRCm39) R491H probably damaging Het
Kdm7a C T 6: 39,152,315 (GRCm39) R127H probably benign Het
Lsm10 C T 4: 125,991,952 (GRCm39) R103C probably damaging Het
Mgme1 T C 2: 144,114,101 (GRCm39) S68P probably damaging Het
Nes G T 3: 87,887,065 (GRCm39) V1775L probably benign Het
Nfrkb C T 9: 31,331,228 (GRCm39) Q1250* probably null Het
Or4s2 T C 2: 88,473,197 (GRCm39) F29L probably damaging Het
Phf21b A T 15: 84,676,033 (GRCm39) L338H probably damaging Het
Pira12 G A 7: 3,900,218 (GRCm39) A128V probably benign Het
Ppp2r5b A G 19: 6,282,580 (GRCm39) V190A possibly damaging Het
Prmt1 T C 7: 44,631,007 (GRCm39) probably null Het
Rusc1 A G 3: 88,996,799 (GRCm39) V639A probably damaging Het
Slc24a2 T A 4: 86,909,456 (GRCm39) probably null Het
Slc39a10 T C 1: 46,874,880 (GRCm39) T141A probably damaging Het
Spta1 A T 1: 174,002,076 (GRCm39) M69L probably benign Het
St8sia5 A C 18: 77,342,238 (GRCm39) Q316P possibly damaging Het
Svs3a T C 2: 164,131,717 (GRCm39) I96T possibly damaging Het
Syne1 T A 10: 5,492,024 (GRCm39) probably benign Het
Trappc3 T C 4: 126,166,474 (GRCm39) S16P probably benign Het
Vmn2r44 A T 7: 8,381,366 (GRCm39) F176I probably benign Het
Wnk1 C T 6: 120,014,491 (GRCm39) E35K possibly damaging Het
Zfp354c A G 11: 50,706,040 (GRCm39) L345P probably damaging Het
Zfp608 T A 18: 55,032,469 (GRCm39) K490N probably damaging Het
Zfp687 A C 3: 94,917,524 (GRCm39) S709A probably benign Het
Other mutations in Hoxa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Hoxa4 APN 6 52,167,393 (GRCm39) missense probably damaging 0.98
BB009:Hoxa4 UTSW 6 52,167,397 (GRCm39) missense probably damaging 1.00
BB019:Hoxa4 UTSW 6 52,167,397 (GRCm39) missense probably damaging 1.00
PIT1430001:Hoxa4 UTSW 6 52,168,199 (GRCm39) missense possibly damaging 0.47
R3983:Hoxa4 UTSW 6 52,167,657 (GRCm39) missense probably benign 0.19
R7592:Hoxa4 UTSW 6 52,168,520 (GRCm39) missense unknown
R7932:Hoxa4 UTSW 6 52,167,397 (GRCm39) missense probably damaging 1.00
R7971:Hoxa4 UTSW 6 52,168,711 (GRCm39) intron probably benign
R8134:Hoxa4 UTSW 6 52,167,537 (GRCm39) missense possibly damaging 0.66
Z1177:Hoxa4 UTSW 6 52,168,616 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTTCTCACGTTAGGACCAGG -3'
(R):5'- ACTACATCGAGCCCAAGTTC -3'

Sequencing Primer
(F):5'- ACGTTAGGACCAGGCTGCG -3'
(R):5'- ATCGAGCCCAAGTTCCCTCC -3'
Posted On 2019-05-15