Incidental Mutation 'IGL01330:Nhs'
ID 74464
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 # IGL01330
Quality Score
Status
Chromosome X
Chromosomal Location 160616286-160942437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 160624449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 967 (S967T)
Ref Sequence ENSEMBL: ENSMUSP00000080280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081569] [ENSMUST00000087085]
AlphaFold B1AV60
Predicted Effect probably damaging
Transcript: ENSMUST00000081569
AA Change: S967T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080280
Gene: ENSMUSG00000059493
AA Change: S967T

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 damaging
Transcript: ENSMUST00000087085
AA Change: S988T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084319
Gene: ENSMUSG00000059493
AA Change: S988T

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,898,351 (GRCm39) E245G possibly damaging Het
Acap2 T C 16: 30,973,495 (GRCm39) I43V probably damaging Het
Acot11 T C 4: 106,628,681 (GRCm39) T36A probably benign Het
Bsn A G 9: 107,988,112 (GRCm39) probably benign Het
Capza2 T C 6: 17,654,170 (GRCm39) probably null Het
Cerkl A G 2: 79,199,125 (GRCm39) I155T possibly damaging Het
Dclre1b T C 3: 103,710,442 (GRCm39) T490A probably benign Het
Efcab6 G A 15: 83,928,501 (GRCm39) S31L probably benign Het
Faim T A 9: 98,874,588 (GRCm39) M67K probably damaging Het
Frem2 T G 3: 53,562,662 (GRCm39) Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 (GRCm39) V341A possibly damaging Het
Grhpr T C 4: 44,986,375 (GRCm39) F142L probably benign Het
Kif14 T C 1: 136,404,112 (GRCm39) V532A probably damaging Het
Klk1b9 T A 7: 43,627,867 (GRCm39) L55* probably null Het
Kmt2e C A 5: 23,702,946 (GRCm39) P1042Q possibly damaging Het
Mpped1 T A 15: 83,684,320 (GRCm39) I114N probably damaging Het
Mtap C A 4: 89,089,460 (GRCm39) T148K probably damaging Het
Muc16 G A 9: 18,419,803 (GRCm39) A8347V possibly damaging Het
Npas3 A G 12: 54,095,602 (GRCm39) Y344C probably damaging Het
Or51q1 A T 7: 103,629,349 (GRCm39) probably benign Het
Or5an9 T C 19: 12,187,404 (GRCm39) V158A possibly damaging Het
Or8b12c T A 9: 37,715,516 (GRCm39) F103Y probably damaging Het
Osmr A G 15: 6,871,509 (GRCm39) Y303H probably damaging Het
Pcdhb8 A T 18: 37,490,631 (GRCm39) I770F probably benign Het
Pde4a C T 9: 21,103,734 (GRCm39) probably benign Het
Prkacb T G 3: 146,457,266 (GRCm39) N79T probably damaging Het
Psd3 A C 8: 68,149,830 (GRCm39) Y1222D probably damaging Het
Rrbp1 T A 2: 143,810,538 (GRCm39) E847D possibly damaging Het
Sbno1 A T 5: 124,530,042 (GRCm39) D912E probably damaging Het
Sgsm3 T A 15: 80,895,053 (GRCm39) probably benign Het
Shcbp1 T C 8: 4,786,372 (GRCm39) T577A probably benign Het
Siglec1 A T 2: 130,925,456 (GRCm39) V335D probably damaging Het
Siglec1 A T 2: 130,916,925 (GRCm39) L1110* probably null Het
Slc4a11 A G 2: 130,529,602 (GRCm39) I335T probably benign Het
Smchd1 A C 17: 71,743,783 (GRCm39) S461A probably benign Het
Spata16 C T 3: 26,968,864 (GRCm39) P415S probably damaging Het
Tdrd12 G A 7: 35,204,459 (GRCm39) S217L possibly damaging Het
Tmem156 C T 5: 65,237,525 (GRCm39) R45H probably benign Het
Vmn2r90 T C 17: 17,953,542 (GRCm39) S569P probably benign Het
Vps13c T A 9: 67,871,390 (GRCm39) V3220E probably damaging Het
Wdr59 T C 8: 112,208,565 (GRCm39) N439S possibly damaging Het
Zfp568 A G 7: 29,721,702 (GRCm39) M215V probably benign Het
Zgrf1 T A 3: 127,377,656 (GRCm39) V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 (GRCm39) D255G possibly damaging 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
IGL02585:Nhs APN X 160,624,760 (GRCm39) missense probably damaging 1.00
IGL02645:Nhs APN X 160,942,054 (GRCm39) missense probably benign 0.00
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 2013-10-07