Incidental Mutation 'R5779:Hmx3'
ID 446877
Institutional Source Beutler Lab
Gene Symbol Hmx3
Ensembl Gene ENSMUSG00000040148
Gene Name H6 homeobox 3
Synonyms Nkx5.1, Nkx5-1
MMRRC Submission 043377-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.679) question?
Stock # R5779 (G1)
Quality Score 172
Status Validated
Chromosome 7
Chromosomal Location 131542867-131544925 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 131544328 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 255 (S255*)
Ref Sequence ENSEMBL: ENSMUSP00000039018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046093] [ENSMUST00000124096] [ENSMUST00000183219]
AlphaFold P42581
Predicted Effect probably null
Transcript: ENSMUST00000046093
AA Change: S255*
SMART Domains Protein: ENSMUSP00000039018
Gene: ENSMUSG00000040148
AA Change: S255*

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 44 52 N/A INTRINSIC
low complexity region 57 84 N/A INTRINSIC
low complexity region 173 208 N/A INTRINSIC
HOX 227 289 1.78e-23 SMART
low complexity region 315 325 N/A INTRINSIC
low complexity region 337 356 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183219
SMART Domains Protein: ENSMUSP00000138799
Gene: ENSMUSG00000050100

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
HOX 149 211 1.31e-21 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit hyperactivity and circling behavior, and severe vestibular defects. Mutant females are infertile due to failure of implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A T 17: 56,881,061 N190Y probably benign Het
2310035C23Rik T G 1: 105,687,347 N246K probably damaging Het
Abca6 T C 11: 110,184,670 M1332V probably benign Het
Afg3l2 T C 18: 67,440,443 K132R probably null Het
Arap3 T C 18: 37,984,365 D886G probably damaging Het
B3gntl1 G T 11: 121,651,676 probably null Het
Cdk12 T A 11: 98,219,074 S640R probably benign Het
Ceacam12 C A 7: 18,069,154 P162T probably benign Het
Chrna5 C A 9: 54,998,104 H67N probably benign Het
Copb1 T A 7: 114,219,572 D837V probably damaging Het
D11Wsu47e A G 11: 113,687,992 D71G probably benign Het
Dcaf5 C T 12: 80,338,832 R840H probably benign Het
Ect2l T A 10: 18,163,438 Q324L probably benign Het
Eef1e1 T C 13: 38,646,273 N141S probably damaging Het
Eif2ak4 A C 2: 118,412,963 N208T possibly damaging Het
Ext1 A G 15: 53,344,553 Y271H probably damaging Het
Fam173a A G 17: 25,790,657 V194A probably benign Het
Fbxo5 G A 10: 5,800,303 R323C possibly damaging Het
Fpr-rs3 C A 17: 20,624,226 A218S possibly damaging Het
Gm20499 G A 5: 114,817,021 probably benign Het
Gucy1b2 C A 14: 62,414,301 L400F possibly damaging Het
Hgd T A 16: 37,593,371 L24H probably benign Het
Ifrd1 A T 12: 40,203,370 F448I probably damaging Het
Igfn1 T A 1: 135,966,840 E1996V probably benign Het
Itpr1 G A 6: 108,352,143 G173R probably damaging Het
Kbtbd8 T C 6: 95,118,534 S26P probably benign Het
Kctd17 A T 15: 78,437,133 probably benign Het
Matr3 T C 18: 35,584,522 S258P possibly damaging Het
Mpp4 G A 1: 59,151,666 A90V probably benign Het
Mrpl20 G A 4: 155,806,921 R34Q probably damaging Het
Neb A T 2: 52,245,301 S3266T probably damaging Het
Nipal3 A G 4: 135,452,339 probably benign Het
Npas2 A T 1: 39,287,571 T46S possibly damaging Het
Nsd3 G T 8: 25,682,669 E815* probably null Het
Nup98 C A 7: 102,152,361 V786L probably benign Het
Olfr730 A T 14: 50,186,746 M157K possibly damaging Het
Pcdhb3 T C 18: 37,301,467 V162A probably benign Het
Pcgf2 G A 11: 97,690,291 P58L probably damaging Het
Penk A G 4: 4,134,318 F110L probably damaging Het
Scfd1 A G 12: 51,431,529 N508S probably benign Het
Scn2a T C 2: 65,764,483 V1892A probably benign Het
Sema6a G A 18: 47,248,826 R885C probably damaging Het
Sik2 T C 9: 50,895,845 H755R probably benign Het
Slc36a3 A T 11: 55,135,268 Y241* probably null Het
Smg5 T C 3: 88,351,618 probably benign Het
Spag9 A G 11: 94,114,253 T1049A probably benign Het
Tas2r103 T C 6: 133,036,945 M53V probably benign Het
Tpr C T 1: 150,423,541 A1090V probably damaging Het
Traf5 T A 1: 191,997,672 R473W probably damaging Het
Ush2a T C 1: 188,443,510 probably null Het
Vit A G 17: 78,546,426 T34A probably benign Het
Other mutations in Hmx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:Hmx3 APN 7 131544271 missense probably damaging 1.00
IGL02731:Hmx3 APN 7 131543963 splice site probably null
gehring UTSW 7 131544328 nonsense probably null
R0924:Hmx3 UTSW 7 131543084 missense probably benign 0.00
R0930:Hmx3 UTSW 7 131543084 missense probably benign 0.00
R0960:Hmx3 UTSW 7 131543314 missense probably benign 0.18
R1478:Hmx3 UTSW 7 131544097 missense probably damaging 1.00
R2126:Hmx3 UTSW 7 131544549 missense possibly damaging 0.86
R4667:Hmx3 UTSW 7 131544382 missense possibly damaging 0.91
R5267:Hmx3 UTSW 7 131544169 missense probably benign 0.15
R5326:Hmx3 UTSW 7 131544417 nonsense probably null
R5386:Hmx3 UTSW 7 131544304 missense probably damaging 1.00
R6326:Hmx3 UTSW 7 131543005 intron probably benign
R7944:Hmx3 UTSW 7 131544382 missense probably damaging 1.00
R9408:Hmx3 UTSW 7 131544373 missense probably damaging 1.00
X0050:Hmx3 UTSW 7 131544151 missense probably benign 0.01
Z1177:Hmx3 UTSW 7 131543120 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GATCATTCTGGAAGAGAGCGACTC -3'
(R):5'- GCAGAGTTCTCGTGGTAGAG -3'

Sequencing Primer
(F):5'- GCGACTCGGAGGAAGGC -3'
(R):5'- CTCGTGGTAGAGGATGGGCAC -3'
Posted On 2016-12-15