Incidental Mutation 'IGL02645:Nhs'
ID301931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhs
Ensembl Gene ENSMUSG00000059493
Gene NameNHS actin remodeling regulator
SynonymsLOC195727, LOC245686
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02645
Quality Score
Status
ChromosomeX
Chromosomal Location161833296-162159730 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 162159058 bp
ZygosityHeterozygous
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]
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
1110017D15Rik A G 4: 41,517,080 V28A probably damaging Het
Ang4 T C 14: 51,764,347 Y48C probably damaging Het
Aox2 T A 1: 58,334,724 M848K probably damaging Het
Apol7c A T 15: 77,528,883 S56T probably benign Het
Asic4 G A 1: 75,473,354 probably benign Het
Asxl1 A G 2: 153,392,857 K162R possibly damaging Het
BC053393 A G 11: 46,586,220 R167G probably benign Het
Car12 T A 9: 66,747,679 H130Q probably benign Het
Cars T C 7: 143,557,909 E737G probably damaging Het
Ccdc141 G A 2: 77,074,867 R412* probably null Het
Cd36 T C 5: 17,785,880 T421A probably benign Het
Clasp2 T G 9: 113,890,061 M758R probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ebf4 A G 2: 130,361,841 K471E probably damaging Het
Fat2 T A 11: 55,282,828 D2353V probably damaging Het
Gm10136 A G 19: 29,003,740 probably benign Het
Intu A G 3: 40,701,272 I930V probably benign Het
Ndrg2 T A 14: 51,906,522 M300L possibly damaging Het
Nme8 T A 13: 19,660,585 L111F probably damaging Het
Nol8 T A 13: 49,665,471 probably null Het
Olfr1148 C T 2: 87,833,615 T192M probably benign Het
Olfr1221 T C 2: 89,111,619 R298G probably benign Het
Olfr1249 T C 2: 89,630,335 T188A probably benign Het
Olfr1511 T A 14: 52,390,501 T91S possibly damaging Het
Pcdhac2 G A 18: 37,145,239 G424D probably damaging Het
Pex3 T G 10: 13,546,429 E42D possibly damaging Het
Plxnb1 C T 9: 109,114,243 probably benign Het
Rpe65 T A 3: 159,606,491 I209N probably damaging Het
Rsl1 T A 13: 67,182,209 F240L probably benign Het
Rttn A T 18: 89,110,686 I1921F probably benign Het
Scn3a A T 2: 65,514,527 F539Y probably benign Het
Secisbp2 T A 13: 51,682,460 M767K probably damaging Het
Sipa1l3 C T 7: 29,328,980 probably null Het
Slfn8 T C 11: 83,003,554 N753S possibly damaging Het
Sympk T G 7: 19,052,424 V984G probably damaging Het
Tacr3 A T 3: 134,861,182 D272V possibly damaging Het
Tnpo3 G T 6: 29,562,900 S606* probably null Het
Zfp804a T C 2: 82,053,876 L29P possibly damaging Het
Zfp94 C T 7: 24,303,754 G88R probably benign Het
Other mutations in Nhs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Nhs APN X 161837230 missense probably damaging 1.00
IGL00963:Nhs APN X 161847049 missense probably damaging 1.00
IGL01330:Nhs APN X 161841453 missense probably damaging 1.00
IGL02585:Nhs APN X 161841764 missense probably damaging 1.00
IGL03223:Nhs APN X 161841906 missense probably damaging 0.99
R0511:Nhs UTSW X 161837359 missense probably damaging 1.00
R0512:Nhs UTSW X 161837359 missense probably damaging 1.00
R0730:Nhs UTSW X 161837300 missense possibly damaging 0.76
R2072:Nhs UTSW X 161842721 missense probably damaging 1.00
R2073:Nhs UTSW X 161842721 missense probably damaging 1.00
X0024:Nhs UTSW X 161840222 missense possibly damaging 0.71
Posted On2015-04-16