Incidental Mutation 'IGL01910:Hmx2'
ID 179787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmx2
Ensembl Gene ENSMUSG00000050100
Gene Name H6 homeobox 2
Synonyms Nkx5-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01910
Quality Score
Status
Chromosome 7
Chromosomal Location 131150502-131159743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 131157401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 172 (R172C)
Ref Sequence ENSEMBL: ENSMUSP00000138799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051997] [ENSMUST00000084502] [ENSMUST00000124096] [ENSMUST00000183219] [ENSMUST00000207231] [ENSMUST00000207736] [ENSMUST00000208571]
AlphaFold P43687
Predicted Effect probably damaging
Transcript: ENSMUST00000051997
AA Change: R172C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058205
Gene: ENSMUSG00000050100
AA Change: R172C

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
Predicted Effect probably benign
Transcript: ENSMUST00000084502
SMART Domains Protein: ENSMUSP00000081547
Gene: ENSMUSG00000066979

DomainStartEndE-ValueType
WD40 2 43 5.69e-4 SMART
WD40 46 83 8.91e-1 SMART
WD40 88 124 5.1e-6 SMART
WD40 127 163 6.16e0 SMART
WD40 214 262 4.02e-4 SMART
WD40 265 302 1.97e2 SMART
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 damaging
Transcript: ENSMUST00000183219
AA Change: R172C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138799
Gene: ENSMUSG00000050100
AA Change: R172C

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
Predicted Effect probably benign
Transcript: ENSMUST00000207231
Predicted Effect probably benign
Transcript: ENSMUST00000207736
Predicted Effect probably benign
Transcript: ENSMUST00000208571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209131
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous disruption of this gene results behavioral abnormalities, such as hyperactivity, head tilting and circling, as well as abnormal vestibular morphogenesis, including severe dysgenesis of all three semicircular ducts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l A G 18: 31,904,995 (GRCm39) M79V probably benign Het
Arhgap5 T A 12: 52,563,644 (GRCm39) V205E probably benign Het
BC061237 T C 14: 44,743,445 (GRCm39) probably benign Het
Calr T A 8: 85,571,598 (GRCm39) probably benign Het
Celsr1 T C 15: 85,814,096 (GRCm39) N1942S probably benign Het
Cfap100 T C 6: 90,386,606 (GRCm39) D373G probably damaging Het
Chst9 C A 18: 15,585,931 (GRCm39) A211S possibly damaging Het
Ephb1 T C 9: 101,879,056 (GRCm39) E478G probably benign Het
Fbrsl1 A T 5: 110,511,602 (GRCm39) V387D probably damaging Het
Fxyd5 T C 7: 30,734,643 (GRCm39) I161V probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Itgam C T 7: 127,682,948 (GRCm39) A320V probably damaging Het
Macrod2 T A 2: 142,138,485 (GRCm39) N361K probably benign Het
Mbl1 T C 14: 40,875,703 (GRCm39) probably null Het
Nudt9 G A 5: 104,202,175 (GRCm39) G79R probably damaging Het
Ppan C T 9: 20,802,232 (GRCm39) R208C probably damaging Het
Rpl23a-ps1 A G 1: 46,020,940 (GRCm39) noncoding transcript Het
Slc17a1 A G 13: 24,062,440 (GRCm39) probably benign Het
Tep1 T C 14: 51,081,569 (GRCm39) T1269A probably benign Het
Vmn2r16 A T 5: 109,487,951 (GRCm39) N275Y probably damaging Het
Wdr93 T C 7: 79,421,321 (GRCm39) S405P probably damaging Het
Xcl1 T A 1: 164,759,458 (GRCm39) I81F probably damaging Het
Other mutations in Hmx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1594:Hmx2 UTSW 7 131,157,231 (GRCm39) missense probably benign 0.12
R2142:Hmx2 UTSW 7 131,157,588 (GRCm39) missense probably damaging 0.99
R5979:Hmx2 UTSW 7 131,156,279 (GRCm39) missense probably benign
R6697:Hmx2 UTSW 7 131,157,663 (GRCm39) missense probably damaging 0.99
R7132:Hmx2 UTSW 7 131,157,645 (GRCm39) missense probably damaging 0.99
R7142:Hmx2 UTSW 7 131,157,465 (GRCm39) missense probably damaging 0.99
R7426:Hmx2 UTSW 7 131,156,232 (GRCm39) missense probably benign 0.04
R7863:Hmx2 UTSW 7 131,156,082 (GRCm39) missense probably benign 0.00
R7895:Hmx2 UTSW 7 131,157,600 (GRCm39) missense probably damaging 0.99
R9321:Hmx2 UTSW 7 131,157,320 (GRCm39) missense probably benign
Z1176:Hmx2 UTSW 7 131,156,196 (GRCm39) missense probably damaging 0.96
Z1177:Hmx2 UTSW 7 131,157,263 (GRCm39) frame shift probably null
Posted On 2014-05-07