Incidental Mutation 'R0511:Nhs'
ID 46977
Institutional Source Beutler Lab
Gene Symbol Nhs
Ensembl Gene ENSMUSG00000059493
Gene Name NHS actin remodeling regulator
Synonyms LOC195727, LOC245686
MMRRC Submission 038705-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0511 (G1)
Quality Score 225
Status Validated
Chromosome X
Chromosomal Location 161833296-162159730 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 161837359 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Isoleucine at position 1467 (R1467I)
Ref Sequence ENSEMBL: ENSMUSP00000084319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081569] [ENSMUST00000087085]
AlphaFold B1AV60
Predicted Effect possibly damaging
Transcript: ENSMUST00000081569
AA Change: R1446I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080280
Gene: ENSMUSG00000059493
AA Change: R1446I

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: R1467I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084319
Gene: ENSMUSG00000059493
AA Change: R1467I

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
Meta Mutation Damage Score 0.1761 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (116/116)
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: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T C 18: 38,254,071 (GRCm38) probably null Het
A630095E13Rik A T 9: 36,638,577 (GRCm38) probably null Het
Abca13 G T 11: 9,294,559 (GRCm38) V2141L probably benign Het
Adam17 T C 12: 21,340,458 (GRCm38) probably benign Het
Adam3 A T 8: 24,695,315 (GRCm38) C456S probably damaging Het
AI464131 A G 4: 41,498,538 (GRCm38) F364S probably damaging Het
Aldh4a1 G T 4: 139,642,571 (GRCm38) probably benign Het
Anapc4 A G 5: 52,842,017 (GRCm38) probably benign Het
Ank3 A T 10: 69,882,368 (GRCm38) Q483L probably damaging Het
Ankle2 A G 5: 110,242,059 (GRCm38) probably benign Het
Ankrd13b T A 11: 77,473,288 (GRCm38) T150S possibly damaging Het
Apeh A G 9: 108,087,055 (GRCm38) M524T probably benign Het
Arl14epl T A 18: 46,926,417 (GRCm38) probably null Het
Atg2a T C 19: 6,252,539 (GRCm38) F964S possibly damaging Het
Atg2b C T 12: 105,617,153 (GRCm38) V2050M probably damaging Het
Atp2b4 A T 1: 133,732,218 (GRCm38) probably benign Het
Bbof1 T A 12: 84,430,271 (GRCm38) S512T probably benign Het
BC055324 T C 1: 163,971,843 (GRCm38) probably null Het
C130079G13Rik A G 3: 59,936,350 (GRCm38) H155R possibly damaging Het
Camta1 C A 4: 151,075,140 (GRCm38) R1614L probably damaging Het
Car10 T C 11: 93,490,582 (GRCm38) Y100H probably damaging Het
Ccdc81 T A 7: 89,893,296 (GRCm38) E124V probably damaging Het
Cd84 A G 1: 171,872,927 (GRCm38) T204A probably benign Het
Celf2 A G 2: 6,604,176 (GRCm38) S178P probably damaging Het
Chat G A 14: 32,409,019 (GRCm38) T555M probably damaging Het
Chd6 A G 2: 160,992,191 (GRCm38) F917S probably damaging Het
Chrna2 C A 14: 66,149,104 (GRCm38) T233N probably damaging Het
Cnpy2 T C 10: 128,326,185 (GRCm38) V109A probably benign Het
Col4a1 T C 8: 11,208,333 (GRCm38) probably null Het
Csmd1 C T 8: 15,932,529 (GRCm38) V2713M possibly damaging Het
Cuedc1 G A 11: 88,183,405 (GRCm38) R255Q probably damaging Het
Cxcl15 A T 5: 90,798,038 (GRCm38) probably benign Het
Dach1 A T 14: 97,901,329 (GRCm38) H559Q possibly damaging Het
Dennd4c C T 4: 86,826,022 (GRCm38) T1367M probably damaging Het
Depdc5 T A 5: 32,945,028 (GRCm38) Y365* probably null Het
Dicer1 T C 12: 104,702,841 (GRCm38) Y1194C possibly damaging Het
Dmxl1 C G 18: 49,891,467 (GRCm38) S1736* probably null Het
Dnah7a C T 1: 53,497,126 (GRCm38) R2586K probably benign Het
Dnajb8 T C 6: 88,222,485 (GRCm38) M1T probably null Het
Dync2h1 G A 9: 7,122,692 (GRCm38) P2088L probably benign Het
Eftud2 T G 11: 102,844,222 (GRCm38) H617P probably damaging Het
Ephb1 A G 9: 101,995,980 (GRCm38) probably benign Het
Fam184a G T 10: 53,698,879 (GRCm38) H155Q probably benign Het
Ganc G T 2: 120,448,401 (GRCm38) E700* probably null Het
Gm10912 A G 2: 104,066,945 (GRCm38) probably benign Het
Gm9047 G T 6: 29,478,170 (GRCm38) probably benign Het
Haus5 A T 7: 30,659,067 (GRCm38) I294N probably damaging Het
Hmgcr G T 13: 96,660,143 (GRCm38) probably null Het
Hr T A 14: 70,561,912 (GRCm38) C641* probably null Het
Itga10 A G 3: 96,658,174 (GRCm38) N1038S probably damaging Het
Itgb1bp1 T G 12: 21,271,435 (GRCm38) Y172S probably damaging Het
Kprp T C 3: 92,824,723 (GRCm38) N340S probably damaging Het
Kremen1 A G 11: 5,215,447 (GRCm38) I41T probably damaging Het
Krt6b A G 15: 101,677,607 (GRCm38) probably benign Het
Krt81 C A 15: 101,463,627 (GRCm38) R24L possibly damaging Het
Ldhd A G 8: 111,629,677 (GRCm38) Y86H probably benign Het
Lilra6 A T 7: 3,912,785 (GRCm38) I76N possibly damaging Het
Mak T C 13: 41,046,267 (GRCm38) T299A probably benign Het
Med25 A G 7: 44,885,078 (GRCm38) probably null Het
Mpg A T 11: 32,230,039 (GRCm38) N189I probably damaging Het
Mroh8 A G 2: 157,229,918 (GRCm38) Y556H probably damaging Het
Myh8 T A 11: 67,284,507 (GRCm38) S294T probably benign Het
Myom1 T A 17: 71,084,317 (GRCm38) D842E probably benign Het
Nat2 C T 8: 67,501,330 (GRCm38) Q31* probably null Het
Nf1 T A 11: 79,438,769 (GRCm38) M653K probably benign Het
Npr2 A G 4: 43,632,801 (GRCm38) E206G probably benign Het
Nsd3 G A 8: 25,678,716 (GRCm38) G629D possibly damaging Het
Nwd1 G A 8: 72,682,005 (GRCm38) C831Y probably damaging Het
Olfr1094 A G 2: 86,829,606 (GRCm38) I285V probably benign Het
Olfr584 T C 7: 103,085,851 (GRCm38) I111T probably damaging Het
P2ry14 A G 3: 59,116,028 (GRCm38) S4P possibly damaging Het
Parp4 A G 14: 56,635,715 (GRCm38) probably benign Het
Pclo A G 5: 14,678,285 (GRCm38) probably benign Het
Pclo T C 5: 14,679,398 (GRCm38) probably benign Het
Pcnt A T 10: 76,404,595 (GRCm38) S1202T possibly damaging Het
Pfkfb4 A G 9: 109,027,757 (GRCm38) Y412C probably damaging Het
Pgm1 T A 5: 64,110,555 (GRCm38) V449D probably damaging Het
Poldip3 T A 15: 83,138,235 (GRCm38) D116V probably damaging Het
Pom121 G T 5: 135,381,832 (GRCm38) Q824K unknown Het
Prkdc G T 16: 15,831,282 (GRCm38) G3707* probably null Het
Prr14l T C 5: 32,844,216 (GRCm38) probably benign Het
Ptbp2 T G 3: 119,720,964 (GRCm38) I405L probably benign Het
Rad21l A T 2: 151,649,069 (GRCm38) probably benign Het
Rbm6 G A 9: 107,847,289 (GRCm38) Q488* probably null Het
Rdh1 T A 10: 127,764,783 (GRCm38) M225K probably benign Het
Recql5 T C 11: 115,928,383 (GRCm38) D119G probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Robo1 T C 16: 73,013,125 (GRCm38) probably null Het
Samd12 G A 15: 53,860,171 (GRCm38) T42I probably benign Het
Scn10a A T 9: 119,613,700 (GRCm38) M1494K probably damaging Het
Sec31a G A 5: 100,375,240 (GRCm38) P864L probably benign Het
Senp2 T C 16: 22,036,570 (GRCm38) V344A probably benign Het
Serpina5 G A 12: 104,103,362 (GRCm38) D278N probably benign Het
Sh3tc1 A T 5: 35,703,462 (GRCm38) V1017D probably damaging Het
Sin3a T A 9: 57,096,895 (GRCm38) Y310* probably null Het
Slc25a32 T C 15: 39,097,545 (GRCm38) T248A probably benign Het
Slc35e1 T C 8: 72,492,571 (GRCm38) probably benign Het
Slc4a10 G A 2: 62,286,862 (GRCm38) V722M probably damaging Het
Slco1a4 A G 6: 141,830,860 (GRCm38) probably benign Het
Smg6 T A 11: 74,929,058 (GRCm38) Y52N probably damaging Het
Sncb T G 13: 54,765,587 (GRCm38) T33P probably damaging Het
Spef2 A G 15: 9,583,984 (GRCm38) probably null Het
Sugp1 A G 8: 70,059,363 (GRCm38) E203G probably damaging Het
Suv39h2 A T 2: 3,472,579 (GRCm38) C105S probably damaging Het
Tlr1 A T 5: 64,926,620 (GRCm38) F205I probably damaging Het
Tnip1 A T 11: 54,917,873 (GRCm38) M496K probably damaging Het
Tnxb G A 17: 34,718,245 (GRCm38) E2889K probably damaging Het
Trim30b T A 7: 104,365,803 (GRCm38) H126L possibly damaging Het
Trpm7 A T 2: 126,826,718 (GRCm38) Y759* probably null Het
Ttc17 A G 2: 94,323,120 (GRCm38) I1000T possibly damaging Het
Ttc27 A T 17: 74,718,715 (GRCm38) N61I probably benign Het
Uba6 T C 5: 86,112,750 (GRCm38) Y990C probably damaging Het
Vav3 A G 3: 109,664,440 (GRCm38) probably benign Het
Vmn2r55 C T 7: 12,671,018 (GRCm38) A153T possibly damaging Het
Wars2 A G 3: 99,216,549 (GRCm38) D242G probably damaging Het
Xylt2 G A 11: 94,669,936 (GRCm38) Q259* probably null Het
Zfp27 G A 7: 29,894,522 (GRCm38) P673S probably damaging Het
Zgrf1 T C 3: 127,584,660 (GRCm38) I1023T possibly damaging Het
Other mutations in Nhs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Nhs APN X 161,837,230 (GRCm38) missense probably damaging 1.00
IGL00963:Nhs APN X 161,847,049 (GRCm38) missense probably damaging 1.00
IGL01330:Nhs APN X 161,841,453 (GRCm38) missense probably damaging 1.00
IGL02585:Nhs APN X 161,841,764 (GRCm38) missense probably damaging 1.00
IGL02645:Nhs APN X 162,159,058 (GRCm38) missense probably benign 0.00
IGL03223:Nhs APN X 161,841,906 (GRCm38) missense probably damaging 0.99
R0512:Nhs UTSW X 161,837,359 (GRCm38) missense probably damaging 1.00
R0730:Nhs UTSW X 161,837,300 (GRCm38) missense possibly damaging 0.76
R2072:Nhs UTSW X 161,842,721 (GRCm38) missense probably damaging 1.00
R2073:Nhs UTSW X 161,842,721 (GRCm38) missense probably damaging 1.00
X0024:Nhs UTSW X 161,840,222 (GRCm38) missense possibly damaging 0.71
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-06-11