Incidental Mutation 'IGL02645:Nhs'
ID 301931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhs
Ensembl Gene ENSMUSG00000059493
Gene Name NHS actin remodeling regulator
Synonyms Nance-Horan syndrome (human), LOC245686, LOC195727
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02645
Quality Score
Status
Chromosome X
Chromosomal Location 160616286-160942437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160942054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 111 (S111P)
Ref Sequence ENSEMBL: ENSMUSP00000084319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081569] [ENSMUST00000087085]
AlphaFold B1AV60
Predicted Effect probably benign
Transcript: ENSMUST00000081569
AA Change: S111P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000080280
Gene: ENSMUSG00000059493
AA Change: S111P

DomainStartEndE-ValueType
low complexity region 34 77 N/A INTRINSIC
low complexity region 88 106 N/A INTRINSIC
low complexity region 233 266 N/A INTRINSIC
low complexity region 368 376 N/A INTRINSIC
Pfam:NHS 414 1054 2.5e-226 PFAM
low complexity region 1451 1468 N/A INTRINSIC
low complexity region 1573 1593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087085
AA Change: S111P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000084319
Gene: ENSMUSG00000059493
AA Change: S111P

DomainStartEndE-ValueType
low complexity region 34 77 N/A INTRINSIC
low complexity region 88 106 N/A INTRINSIC
low complexity region 233 266 N/A INTRINSIC
low complexity region 389 397 N/A INTRINSIC
Pfam:NHS 436 1075 1.9e-217 PFAM
low complexity region 1472 1489 N/A INTRINSIC
low complexity region 1594 1614 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Heterozygous females exhibit variable and patchy lens opacity. Homozygous females and hemizygous males exhibit complete lens opacity associated with progressive degeneration of primary fibers beginning around embryonic day 15. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,804 (GRCm39) Y48C probably damaging Het
Aox1 T A 1: 58,373,883 (GRCm39) M848K probably damaging Het
Apol7c A T 15: 77,413,083 (GRCm39) S56T probably benign Het
Asic4 G A 1: 75,449,998 (GRCm39) probably benign Het
Asxl1 A G 2: 153,234,777 (GRCm39) K162R possibly damaging Het
Car12 T A 9: 66,654,961 (GRCm39) H130Q probably benign Het
Cars1 T C 7: 143,111,646 (GRCm39) E737G probably damaging Het
Ccdc141 G A 2: 76,905,211 (GRCm39) R412* probably null Het
Cd36 T C 5: 17,990,878 (GRCm39) T421A probably benign Het
Clasp2 T G 9: 113,719,129 (GRCm39) M758R probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Ebf4 A G 2: 130,203,761 (GRCm39) K471E probably damaging Het
Fat2 T A 11: 55,173,654 (GRCm39) D2353V probably damaging Het
Gm10136 A G 19: 28,981,140 (GRCm39) probably benign Het
Intu A G 3: 40,655,702 (GRCm39) I930V probably benign Het
Ndrg2 T A 14: 52,143,979 (GRCm39) M300L possibly damaging Het
Nme8 T A 13: 19,844,755 (GRCm39) L111F probably damaging Het
Nol8 T A 13: 49,818,947 (GRCm39) probably null Het
Or10g1b T A 14: 52,627,958 (GRCm39) T91S possibly damaging Het
Or12e13 C T 2: 87,663,959 (GRCm39) T192M probably benign Het
Or4a76 T C 2: 89,460,679 (GRCm39) T188A probably benign Het
Or4c116 T C 2: 88,941,963 (GRCm39) R298G probably benign Het
Pcdhac2 G A 18: 37,278,292 (GRCm39) G424D probably damaging Het
Pex3 T G 10: 13,422,173 (GRCm39) E42D possibly damaging Het
Plxnb1 C T 9: 108,943,311 (GRCm39) probably benign Het
Rpe65 T A 3: 159,312,128 (GRCm39) I209N probably damaging Het
Rsl1 T A 13: 67,330,273 (GRCm39) F240L probably benign Het
Rttn A T 18: 89,128,810 (GRCm39) I1921F probably benign Het
Scn3a A T 2: 65,344,871 (GRCm39) F539Y probably benign Het
Secisbp2 T A 13: 51,836,496 (GRCm39) M767K probably damaging Het
Sipa1l3 C T 7: 29,028,405 (GRCm39) probably null Het
Slfn8 T C 11: 82,894,380 (GRCm39) N753S possibly damaging Het
Spmip6 A G 4: 41,517,080 (GRCm39) V28A probably damaging Het
Sympk T G 7: 18,786,349 (GRCm39) V984G probably damaging Het
Tacr3 A T 3: 134,566,943 (GRCm39) D272V possibly damaging Het
Timd6 A G 11: 46,477,047 (GRCm39) R167G probably benign Het
Tnpo3 G T 6: 29,562,899 (GRCm39) S606* probably null Het
Zfp804a T C 2: 81,884,220 (GRCm39) L29P possibly damaging Het
Zfp94 C T 7: 24,003,179 (GRCm39) G88R probably benign Het
Other mutations in Nhs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Nhs APN X 160,620,226 (GRCm39) missense probably damaging 1.00
IGL00963:Nhs APN X 160,630,045 (GRCm39) missense probably damaging 1.00
IGL01330:Nhs APN X 160,624,449 (GRCm39) missense probably damaging 1.00
IGL02585:Nhs APN X 160,624,760 (GRCm39) missense probably damaging 1.00
IGL03223:Nhs APN X 160,624,902 (GRCm39) missense probably damaging 0.99
R0511:Nhs UTSW X 160,620,355 (GRCm39) missense probably damaging 1.00
R0512:Nhs UTSW X 160,620,355 (GRCm39) missense probably damaging 1.00
R0730:Nhs UTSW X 160,620,296 (GRCm39) missense possibly damaging 0.76
R2072:Nhs UTSW X 160,625,717 (GRCm39) missense probably damaging 1.00
R2073:Nhs UTSW X 160,625,717 (GRCm39) missense probably damaging 1.00
X0024:Nhs UTSW X 160,623,218 (GRCm39) missense possibly damaging 0.71
Posted On 2015-04-16