Incidental Mutation 'R2072:Nhs'
ID 227285
Institutional Source Beutler Lab
Gene Symbol Nhs
Ensembl Gene ENSMUSG00000059493
Gene Name NHS actin remodeling regulator
Synonyms Nance-Horan syndrome (human), LOC245686, LOC195727
MMRRC Submission 040077-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2072 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 160616286-160942437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 160625717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 544 (H544L)
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: H544L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080280
Gene: ENSMUSG00000059493
AA Change: H544L

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: H565L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084319
Gene: ENSMUSG00000059493
AA Change: H565L

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G C 5: 64,056,080 (GRCm39) R272P possibly damaging Het
Ablim3 A T 18: 61,990,159 (GRCm39) D83E possibly damaging Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Adamts13 C A 2: 26,895,437 (GRCm39) T1176N probably benign Het
Adgre5 T C 8: 84,454,433 (GRCm39) T357A probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ankrd33 T C 15: 101,017,517 (GRCm39) V310A probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Bnipl C T 3: 95,151,522 (GRCm39) G232E probably damaging Het
Btbd17 A T 11: 114,682,778 (GRCm39) probably null Het
Cacna1s G A 1: 136,007,242 (GRCm39) V173I probably benign Het
Ccdc122 T C 14: 77,306,391 (GRCm39) probably null Het
Ces1a T A 8: 93,774,703 (GRCm39) N12Y probably benign Het
Chrdl1 T C X: 142,086,414 (GRCm39) I231V probably benign Het
Ciita C T 16: 10,336,217 (GRCm39) T958I probably benign Het
Cnot1 G T 8: 96,466,461 (GRCm39) T1592K possibly damaging Het
Dcaf15 T C 8: 84,828,370 (GRCm39) D240G probably damaging Het
Dlgap1 C T 17: 70,969,765 (GRCm39) R524C probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dsg1c A G 18: 20,408,309 (GRCm39) M453V probably benign Het
Ednrb G T 14: 104,054,535 (GRCm39) N432K probably benign Het
Fcgbp G A 7: 27,819,814 (GRCm39) G2514S probably damaging Het
Fez1 A G 9: 36,779,241 (GRCm39) K306R probably benign Het
Fmo4 A G 1: 162,637,456 (GRCm39) V12A probably benign Het
Fpgt T C 3: 154,793,511 (GRCm39) Y172C probably damaging Het
Fsip2 T A 2: 82,839,159 (GRCm39) F6976I possibly damaging Het
Galnt12 C T 4: 47,108,477 (GRCm39) R205* probably null Het
Grik5 A T 7: 24,714,738 (GRCm39) M752K possibly damaging Het
Herc2 A G 7: 55,876,712 (GRCm39) N4516S probably damaging Het
Ifrd2 A T 9: 107,469,744 (GRCm39) D439V probably damaging Het
Igsf3 A G 3: 101,346,831 (GRCm39) T609A probably benign Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
Lgi2 A G 5: 52,695,847 (GRCm39) S371P probably damaging Het
Marchf3 A T 18: 56,944,925 (GRCm39) V56E possibly damaging Het
Mib2 T C 4: 155,744,158 (GRCm39) D168G probably damaging Het
Nlrp2 A G 7: 5,328,005 (GRCm39) S683P probably damaging Het
Onecut3 T G 10: 80,330,848 (GRCm39) L3V unknown Het
Or12j2 T C 7: 139,916,566 (GRCm39) S264P possibly damaging Het
Or4c35 C A 2: 89,808,557 (GRCm39) T145K probably benign Het
Or5b102 A T 19: 13,041,044 (GRCm39) M90L probably benign Het
Otogl C T 10: 107,616,904 (GRCm39) C1791Y probably damaging Het
Paip1 T C 13: 119,566,798 (GRCm39) V128A possibly damaging Het
Pcnx2 A T 8: 126,488,481 (GRCm39) C1688S possibly damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phlpp2 T C 8: 110,655,124 (GRCm39) S605P possibly damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plxnb2 G T 15: 89,042,654 (GRCm39) R1545S probably damaging Het
Ppp4c T C 7: 126,386,520 (GRCm39) probably null Het
Prune1 C T 3: 95,162,719 (GRCm39) R318Q probably benign Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Psg27 A G 7: 18,298,934 (GRCm39) L129P probably benign Het
Psmc6 A G 14: 45,567,323 (GRCm39) K7E possibly damaging Het
Reln A T 5: 22,124,175 (GRCm39) V2777E probably damaging Het
Rigi A T 4: 40,224,069 (GRCm39) probably null Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Slc5a5 C T 8: 71,345,083 (GRCm39) G75R possibly damaging Het
Smarcd2 A T 11: 106,156,133 (GRCm39) L42* probably null Het
Smg1 T C 7: 117,762,389 (GRCm39) probably benign Het
Smurf2 T A 11: 106,732,595 (GRCm39) Q335L probably benign Het
Sspo A T 6: 48,450,451 (GRCm39) H2580L probably benign Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Syt1 A G 10: 108,419,833 (GRCm39) I276T probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar9 A T 10: 23,984,877 (GRCm39) C186S probably damaging Het
Tnrc6b C T 15: 80,767,166 (GRCm39) P977L possibly damaging Het
Trp53bp2 A G 1: 182,286,432 (GRCm39) T1091A probably benign Het
Ttn G T 2: 76,768,120 (GRCm39) T2947N probably damaging Het
Ube2q1 T C 3: 89,686,878 (GRCm39) probably null Het
Ube3c A G 5: 29,840,638 (GRCm39) E671G probably benign Het
Upf3a A G 8: 13,835,850 (GRCm39) K56R possibly damaging Het
Vmn2r15 A T 5: 109,434,619 (GRCm39) M695K possibly damaging Het
Vmn2r3 A T 3: 64,182,493 (GRCm39) M402K possibly damaging Het
Zfp354b T A 11: 50,813,279 (GRCm39) R549* probably null Het
Zfp37 A T 4: 62,109,945 (GRCm39) M411K probably damaging Het
Zfp747 T A 7: 126,973,142 (GRCm39) T343S possibly damaging Het
Zfp853 T A 5: 143,275,137 (GRCm39) Q161L unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTTACCACTGGATGACTGGTG -3'
(R):5'- CGTACAAGATCTCGGAGCCTTC -3'

Sequencing Primer
(F):5'- CCACTGGATGACTGGTGGTCTTC -3'
(R):5'- ATCTCGGAGCCTTCCTCGG -3'
Posted On 2014-09-17