Incidental Mutation 'R9286:Hmx1'
ID 703904
Institutional Source Beutler Lab
Gene Symbol Hmx1
Ensembl Gene ENSMUSG00000067438
Gene Name H6 homeobox 1
Synonyms Nkx5-3
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9286 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 35546452-35557074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35546776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 106 (T106A)
Ref Sequence ENSEMBL: ENSMUSP00000084958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087674] [ENSMUST00000172923]
AlphaFold O70218
Predicted Effect probably benign
Transcript: ENSMUST00000087674
AA Change: T106A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084958
Gene: ENSMUSG00000067438
AA Change: T106A

DomainStartEndE-ValueType
low complexity region 43 58 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
low complexity region 75 105 N/A INTRINSIC
HOX 191 253 1.16e-22 SMART
low complexity region 277 319 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000172923
AA Change: T106A
SMART Domains Protein: ENSMUSP00000139840
Gene: ENSMUSG00000067438
AA Change: T106A

DomainStartEndE-ValueType
SCOP:d1qbkb_ 10 63 4e-4 SMART
low complexity region 75 105 N/A INTRINSIC
low complexity region 118 136 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a spontaneous mutation show perinatal lethality, reduced body mass and low set, laterally-protruding ears. In addition to these phenotypes, mice homozygous for an ENU mutation can display small eyes, mild cranial defects, and perinatal semilethality associated with exencephaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 G C 15: 91,058,827 (GRCm39) P539R possibly damaging Het
Adgrl3 A T 5: 81,794,413 (GRCm39) D478V probably benign Het
Adgrv1 A T 13: 81,594,520 (GRCm39) Y4165N probably damaging Het
Ago2 A G 15: 72,997,065 (GRCm39) L326P probably damaging Het
Akap6 A C 12: 53,119,254 (GRCm39) K1107T possibly damaging Het
Ank2 C T 3: 126,846,381 (GRCm39) A205T probably damaging Het
Ankrd27 T C 7: 35,326,869 (GRCm39) V738A probably benign Het
Asb1 A G 1: 91,480,150 (GRCm39) K291R probably benign Het
Cacna1e G T 1: 154,288,845 (GRCm39) P1847T probably damaging Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Cps1 T G 1: 67,198,030 (GRCm39) M365R probably damaging Het
Ctc1 T G 11: 68,917,180 (GRCm39) probably null Het
Cyp2b10 G T 7: 25,616,391 (GRCm39) G333C probably damaging Het
Cyp2d12 A G 15: 82,443,403 (GRCm39) E455G probably damaging Het
Daam2 A T 17: 49,786,922 (GRCm39) D539E possibly damaging Het
Dip2a T A 10: 76,138,096 (GRCm39) Y370F probably benign Het
Dok5 G A 2: 170,672,099 (GRCm39) E134K possibly damaging Het
Dync2h1 C T 9: 6,941,668 (GRCm39) A4164T probably benign Het
Ecm2 A G 13: 49,683,696 (GRCm39) Y558C Het
Eif3b A G 5: 140,411,064 (GRCm39) I172V probably benign Het
Flnb T C 14: 7,873,414 (GRCm38) F237L probably damaging Het
Gdpd4 A G 7: 97,647,639 (GRCm39) I429V probably damaging Het
Grik1 T C 16: 87,848,315 (GRCm39) Y151C Het
Gys2 C A 6: 142,376,037 (GRCm39) V542L possibly damaging Het
Il1rap T C 16: 26,517,604 (GRCm39) V268A possibly damaging Het
Kansl3 T C 1: 36,387,720 (GRCm39) T543A probably benign Het
Kcnk1 T A 8: 126,752,148 (GRCm39) probably null Het
Larp7 CCTTCTT CCTT 3: 127,340,008 (GRCm39) probably benign Het
Llgl2 T C 11: 115,740,844 (GRCm39) F449L probably damaging Het
Lmod2 A G 6: 24,603,712 (GRCm39) E229G probably damaging Het
Loxl4 A T 19: 42,586,047 (GRCm39) V699E possibly damaging Het
Miga2 A G 2: 30,273,609 (GRCm39) D489G probably benign Het
Nlrp1b T A 11: 71,060,573 (GRCm39) H748L probably benign Het
Nudcd2 T A 11: 40,627,403 (GRCm39) Y108N probably damaging Het
Or10g1 G A 14: 52,648,075 (GRCm39) R85* probably null Het
Or52b2 A C 7: 104,985,971 (GRCm39) C317W probably damaging Het
Or5b120 T A 19: 13,479,791 (GRCm39) I28N possibly damaging Het
Pcdhb17 T A 18: 37,619,422 (GRCm39) V404E probably benign Het
Pde4dip T C 3: 97,607,183 (GRCm39) D2084G probably damaging Het
Phf20 A T 2: 156,134,470 (GRCm39) K552M probably damaging Het
Plcg2 A G 8: 118,331,976 (GRCm39) D854G probably benign Het
Psen1 A G 12: 83,775,549 (GRCm39) N316D probably benign Het
Rabgap1l G A 1: 160,051,818 (GRCm39) Q361* probably null Het
Ralb A T 1: 119,399,544 (GRCm39) D171E probably benign Het
Rev3l T C 10: 39,682,947 (GRCm39) I355T possibly damaging Het
Rttn A G 18: 88,995,849 (GRCm39) K211E probably benign Het
Scg2 A G 1: 79,413,653 (GRCm39) S357P probably damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Slc17a5 A T 9: 78,445,566 (GRCm39) W456R probably damaging Het
Slf1 A T 13: 77,191,932 (GRCm39) D967E probably damaging Het
Spryd3 A T 15: 102,041,869 (GRCm39) V51E possibly damaging Het
Tgfbi A G 13: 56,773,563 (GRCm39) H187R probably damaging Het
Tmc3 A G 7: 83,252,643 (GRCm39) E348G probably damaging Het
Tmem45a2 A G 16: 56,867,332 (GRCm39) I123T probably damaging Het
Tonsl G A 15: 76,515,213 (GRCm39) H1058Y probably damaging Het
Trav13d-1 A G 14: 53,089,050 (GRCm39) K20E probably benign Het
Trpm2 C A 10: 77,777,014 (GRCm39) V428L probably benign Het
Usp25 A G 16: 76,904,864 (GRCm39) Y810C probably damaging Het
Vmn1r40 T A 6: 89,692,079 (GRCm39) F299I probably benign Het
Vmn2r18 A G 5: 151,499,175 (GRCm39) F430L probably benign Het
Vps13c G A 9: 67,880,203 (GRCm39) V3462I probably benign Het
Zfp955b T C 17: 33,521,683 (GRCm39) I384T probably benign Het
Zmym4 T C 4: 126,783,812 (GRCm39) D1138G probably damaging Het
Other mutations in Hmx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4740:Hmx1 UTSW 5 35,549,115 (GRCm39) missense probably damaging 0.99
R7635:Hmx1 UTSW 5 35,549,583 (GRCm39) missense possibly damaging 0.87
R8726:Hmx1 UTSW 5 35,549,100 (GRCm39) missense probably damaging 1.00
R8904:Hmx1 UTSW 5 35,549,511 (GRCm39) missense probably damaging 1.00
R9646:Hmx1 UTSW 5 35,549,400 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCATCGAGAACCTGCTAGC -3'
(R):5'- CCCAGTACACAGGAAGACTAGG -3'

Sequencing Primer
(F):5'- AGAACCTGCTAGCAGCCGAG -3'
(R):5'- TACACAGGAAGACTAGGAGCTCAC -3'
Posted On 2022-03-25