Incidental Mutation 'R4837:Nwd1'
ID 374345
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission 042452-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R4837 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73383759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 52 (E52G)
Ref Sequence ENSEMBL: ENSMUSP00000125470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093427] [ENSMUST00000160443] [ENSMUST00000161254] [ENSMUST00000161557] [ENSMUST00000228312]
AlphaFold A6H603
Predicted Effect possibly damaging
Transcript: ENSMUST00000093427
AA Change: E52G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: E52G

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
low complexity region 279 292 N/A INTRINSIC
Pfam:AAA_16 312 457 7.3e-8 PFAM
Pfam:NACHT 336 511 1.3e-12 PFAM
WD40 857 896 1.31e-3 SMART
WD40 899 938 7.97e-8 SMART
Blast:WD40 941 985 2e-15 BLAST
WD40 988 1028 2.05e1 SMART
Blast:WD40 1037 1073 2e-9 BLAST
Blast:WD40 1073 1110 4e-10 BLAST
WD40 1118 1156 5.97e-1 SMART
WD40 1160 1198 6.6e1 SMART
WD40 1245 1283 5.3e1 SMART
WD40 1286 1326 2.13e1 SMART
WD40 1340 1375 1.06e2 SMART
WD40 1377 1416 3.5e-4 SMART
WD40 1421 1461 2.66e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160443
AA Change: E52G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124446
Gene: ENSMUSG00000048148
AA Change: E52G

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160912
Predicted Effect probably damaging
Transcript: ENSMUST00000161254
AA Change: E52G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: E52G

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
low complexity region 279 292 N/A INTRINSIC
low complexity region 319 329 N/A INTRINSIC
Pfam:NACHT 336 511 2.1e-12 PFAM
WD40 857 896 1.31e-3 SMART
WD40 899 938 7.97e-8 SMART
Blast:WD40 941 985 1e-15 BLAST
WD40 988 1028 2.05e1 SMART
Blast:WD40 1037 1073 2e-9 BLAST
Blast:WD40 1073 1110 3e-10 BLAST
WD40 1118 1156 2.49e-1 SMART
WD40 1203 1241 5.3e1 SMART
WD40 1244 1284 2.13e1 SMART
WD40 1298 1333 1.06e2 SMART
WD40 1335 1374 3.5e-4 SMART
WD40 1379 1419 2.66e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161386
SMART Domains Protein: ENSMUSP00000123737
Gene: ENSMUSG00000048148

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
low complexity region 279 292 N/A INTRINSIC
low complexity region 319 329 N/A INTRINSIC
Pfam:NACHT 336 511 1.2e-12 PFAM
WD40 857 896 1.31e-3 SMART
WD40 899 938 7.97e-8 SMART
Blast:WD40 941 984 1e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000161557
AA Change: E52G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125470
Gene: ENSMUSG00000048148
AA Change: E52G

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163026
Predicted Effect possibly damaging
Transcript: ENSMUST00000228312
AA Change: E93G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1700 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a cytosolic protein and predicted to contain a NACHT domain and multiple WD40 repeats. Increased expression of this gene was observed in some prostate cancer cell lines. Knocking down expression of this gene results in decreased androgen receptor protein levels, indicating that this gene may be important in modulating androgen receptor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,846,203 (GRCm39) H618L probably benign Het
Adgrl3 A G 5: 81,914,081 (GRCm39) T1230A probably benign Het
Ahnak2 A G 12: 112,749,359 (GRCm39) S203P probably benign Het
Allc A G 12: 28,609,308 (GRCm39) V244A probably benign Het
Ap3m1 G A 14: 21,087,225 (GRCm39) P157L probably damaging Het
Arhgef2 T G 3: 88,540,250 (GRCm39) I97S probably damaging Het
Btaf1 C A 19: 36,944,185 (GRCm39) T398K probably benign Het
Cabp1 T C 5: 115,311,212 (GRCm39) M158V probably damaging Het
Ccdc162 G A 10: 41,549,863 (GRCm39) P340L probably benign Het
Ccdc168 G A 1: 44,100,594 (GRCm39) T168I possibly damaging Het
Clip4 A G 17: 72,141,217 (GRCm39) K524E probably damaging Het
Cltc A G 11: 86,586,474 (GRCm39) V189A probably benign Het
Cmc2 A G 8: 117,620,879 (GRCm39) F34S probably damaging Het
Ctcfl G T 2: 172,955,449 (GRCm39) T271N probably benign Het
Cyp4f16 T A 17: 32,761,738 (GRCm39) F124I possibly damaging Het
Ddx41 C A 13: 55,679,461 (GRCm39) R479L possibly damaging Het
Dgcr6 C A 16: 17,884,710 (GRCm39) N87K possibly damaging Het
Dll1 A G 17: 15,589,121 (GRCm39) L518P probably damaging Het
Dnaja4 G T 9: 54,617,928 (GRCm39) M263I probably benign Het
Dusp13b T A 14: 21,793,593 (GRCm39) probably benign Het
Fam185a T A 5: 21,685,375 (GRCm39) I357N probably benign Het
Fam186a T C 15: 99,838,678 (GRCm39) Y2522C unknown Het
Fam222a T A 5: 114,732,458 (GRCm39) C4* probably null Het
Filip1 T C 9: 79,726,741 (GRCm39) D626G probably damaging Het
Ghrhr C T 6: 55,365,172 (GRCm39) R389C probably damaging Het
Gstm3 T A 3: 107,871,531 (GRCm39) T217S probably benign Het
Gucy2g T C 19: 55,214,485 (GRCm39) T548A probably benign Het
Hectd3 T A 4: 116,859,794 (GRCm39) C744S probably null Het
Hnrnpl T C 7: 28,516,762 (GRCm39) S184P probably benign Het
Il3 G A 11: 54,158,083 (GRCm39) probably benign Het
Itga5 C T 15: 103,262,511 (GRCm39) G330S probably damaging Het
Kl A G 5: 150,904,312 (GRCm39) T355A possibly damaging Het
Lipk A C 19: 34,009,720 (GRCm39) S208R probably damaging Het
Mrs2 T A 13: 25,183,040 (GRCm39) probably null Het
Mutyh A G 4: 116,674,887 (GRCm39) E372G probably damaging Het
Myh4 C A 11: 67,149,818 (GRCm39) A1821D probably benign Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nlrp12 T C 7: 3,279,693 (GRCm39) E881G probably damaging Het
Nol9 T C 4: 152,136,552 (GRCm39) probably benign Het
Opn4 A G 14: 34,318,261 (GRCm39) V242A probably damaging Het
Or4e1 A T 14: 52,701,103 (GRCm39) M121K probably damaging Het
Or4k44 T A 2: 111,368,319 (GRCm39) H105L probably damaging Het
Or5m13 A G 2: 85,748,748 (GRCm39) T160A probably benign Het
Or6b1 T G 6: 42,814,783 (GRCm39) probably null Het
Or6b2b A G 1: 92,418,697 (GRCm39) V260A probably benign Het
Paxbp1 G A 16: 90,831,866 (GRCm39) Q341* probably null Het
Pcdh7 T C 5: 57,877,753 (GRCm39) V436A possibly damaging Het
Pcdhb18 G A 18: 37,622,867 (GRCm39) V66M probably damaging Het
Pikfyve A G 1: 65,285,749 (GRCm39) E951G possibly damaging Het
Plcg1 A G 2: 160,592,906 (GRCm39) N179S probably benign Het
Prr11 A C 11: 86,989,517 (GRCm39) S285A probably benign Het
Ranbp17 A G 11: 33,278,451 (GRCm39) S139P probably damaging Het
Rasa4 G A 5: 136,120,664 (GRCm39) probably null Het
Rnf213 G C 11: 119,333,589 (GRCm39) G2934R probably benign Het
Rpap1 A G 2: 119,608,732 (GRCm39) V210A probably benign Het
Rpn1 T A 6: 88,067,187 (GRCm39) N182K probably benign Het
Rps24 C T 14: 24,541,855 (GRCm39) T14I possibly damaging Het
Rrp12 C T 19: 41,865,944 (GRCm39) probably null Het
Rttn T A 18: 89,108,539 (GRCm39) probably null Het
Rufy1 A G 11: 50,292,320 (GRCm39) S490P probably damaging Het
Sec62 T A 3: 30,864,018 (GRCm39) M100K unknown Het
Spata16 A G 3: 26,787,081 (GRCm39) H253R possibly damaging Het
Srcap T C 7: 127,158,134 (GRCm39) probably benign Het
Srrm1 A G 4: 135,072,823 (GRCm39) probably benign Het
Tbcd G A 11: 121,473,611 (GRCm39) probably null Het
Tedc2 C A 17: 24,439,567 (GRCm39) A25S probably damaging Het
Tnr A T 1: 159,512,358 (GRCm39) probably benign Het
Tnxb A C 17: 34,936,981 (GRCm39) D3730A probably damaging Het
Tor2a G A 2: 32,650,609 (GRCm39) G201D probably damaging Het
Tpp1 T C 7: 105,395,856 (GRCm39) T558A probably benign Het
Vmn1r211 G T 13: 23,036,296 (GRCm39) Q124K probably benign Het
Wasf3 T C 5: 146,397,788 (GRCm39) V185A probably benign Het
Zbtb12 A G 17: 35,114,985 (GRCm39) T257A probably benign Het
Other mutations in Nwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Nwd1 APN 8 73,397,705 (GRCm39) missense probably damaging 0.99
IGL01294:Nwd1 APN 8 73,438,373 (GRCm39) missense probably damaging 1.00
IGL01298:Nwd1 APN 8 73,388,959 (GRCm39) missense probably benign 0.00
IGL01333:Nwd1 APN 8 73,393,439 (GRCm39) missense possibly damaging 0.90
IGL01371:Nwd1 APN 8 73,401,743 (GRCm39) missense probably damaging 1.00
IGL02244:Nwd1 APN 8 73,434,210 (GRCm39) missense probably damaging 1.00
IGL02579:Nwd1 APN 8 73,434,155 (GRCm39) missense probably damaging 1.00
IGL02608:Nwd1 APN 8 73,394,003 (GRCm39) missense probably damaging 1.00
IGL02632:Nwd1 APN 8 73,394,082 (GRCm39) missense possibly damaging 0.80
IGL02893:Nwd1 APN 8 73,394,129 (GRCm39) missense probably damaging 1.00
IGL03010:Nwd1 APN 8 73,414,688 (GRCm39) splice site probably benign
R0017:Nwd1 UTSW 8 73,436,053 (GRCm39) splice site probably benign
R0066:Nwd1 UTSW 8 73,438,484 (GRCm39) missense probably benign 0.27
R0066:Nwd1 UTSW 8 73,438,484 (GRCm39) missense probably benign 0.27
R0505:Nwd1 UTSW 8 73,388,965 (GRCm39) missense probably damaging 0.96
R0511:Nwd1 UTSW 8 73,408,633 (GRCm39) missense probably damaging 1.00
R0612:Nwd1 UTSW 8 73,394,308 (GRCm39) missense probably damaging 0.99
R0681:Nwd1 UTSW 8 73,388,965 (GRCm39) missense probably damaging 0.96
R0763:Nwd1 UTSW 8 73,397,672 (GRCm39) missense probably damaging 1.00
R0905:Nwd1 UTSW 8 73,436,077 (GRCm39) missense probably damaging 0.99
R1136:Nwd1 UTSW 8 73,424,397 (GRCm39) splice site probably benign
R1483:Nwd1 UTSW 8 73,383,714 (GRCm39) missense probably damaging 0.96
R1630:Nwd1 UTSW 8 73,393,657 (GRCm39) missense possibly damaging 0.66
R1724:Nwd1 UTSW 8 73,438,248 (GRCm39) missense probably damaging 1.00
R1732:Nwd1 UTSW 8 73,393,463 (GRCm39) missense possibly damaging 0.96
R1885:Nwd1 UTSW 8 73,431,622 (GRCm39) missense probably benign 0.00
R1973:Nwd1 UTSW 8 73,431,590 (GRCm39) missense possibly damaging 0.46
R2393:Nwd1 UTSW 8 73,389,055 (GRCm39) missense probably benign
R2926:Nwd1 UTSW 8 73,393,640 (GRCm39) missense probably damaging 1.00
R3706:Nwd1 UTSW 8 73,393,744 (GRCm39) missense possibly damaging 0.66
R3916:Nwd1 UTSW 8 73,394,439 (GRCm39) nonsense probably null
R3917:Nwd1 UTSW 8 73,394,439 (GRCm39) nonsense probably null
R4153:Nwd1 UTSW 8 73,408,564 (GRCm39) missense probably damaging 1.00
R4426:Nwd1 UTSW 8 73,393,423 (GRCm39) missense probably damaging 1.00
R4435:Nwd1 UTSW 8 73,414,764 (GRCm39) missense possibly damaging 0.46
R4522:Nwd1 UTSW 8 73,397,579 (GRCm39) missense probably damaging 1.00
R4622:Nwd1 UTSW 8 73,393,928 (GRCm39) missense probably damaging 1.00
R4659:Nwd1 UTSW 8 73,421,949 (GRCm39) missense probably benign 0.03
R4694:Nwd1 UTSW 8 73,393,958 (GRCm39) missense probably damaging 1.00
R4844:Nwd1 UTSW 8 73,393,742 (GRCm39) missense probably damaging 1.00
R4906:Nwd1 UTSW 8 73,398,841 (GRCm39) missense probably damaging 1.00
R5041:Nwd1 UTSW 8 73,431,683 (GRCm39) missense possibly damaging 0.90
R5183:Nwd1 UTSW 8 73,397,714 (GRCm39) missense probably benign 0.07
R5416:Nwd1 UTSW 8 73,393,322 (GRCm39) missense possibly damaging 0.90
R5553:Nwd1 UTSW 8 73,431,604 (GRCm39) missense possibly damaging 0.83
R5670:Nwd1 UTSW 8 73,419,745 (GRCm39) missense probably damaging 0.97
R5699:Nwd1 UTSW 8 73,429,602 (GRCm39) critical splice donor site probably null
R5722:Nwd1 UTSW 8 73,401,872 (GRCm39) missense probably damaging 0.97
R5762:Nwd1 UTSW 8 73,397,542 (GRCm39) missense probably damaging 1.00
R5778:Nwd1 UTSW 8 73,419,745 (GRCm39) missense probably damaging 0.97
R5992:Nwd1 UTSW 8 73,380,201 (GRCm39) critical splice donor site probably null
R6163:Nwd1 UTSW 8 73,388,814 (GRCm39) missense probably damaging 0.96
R6164:Nwd1 UTSW 8 73,388,814 (GRCm39) missense probably damaging 0.96
R6165:Nwd1 UTSW 8 73,388,814 (GRCm39) missense probably damaging 0.96
R6212:Nwd1 UTSW 8 73,421,950 (GRCm39) missense possibly damaging 0.95
R6443:Nwd1 UTSW 8 73,388,994 (GRCm39) missense possibly damaging 0.58
R6865:Nwd1 UTSW 8 73,383,690 (GRCm39) missense possibly damaging 0.63
R6928:Nwd1 UTSW 8 73,408,653 (GRCm39) missense probably benign 0.27
R6944:Nwd1 UTSW 8 73,380,162 (GRCm39) missense possibly damaging 0.69
R6979:Nwd1 UTSW 8 73,394,288 (GRCm39) missense probably damaging 1.00
R7060:Nwd1 UTSW 8 73,393,322 (GRCm39) missense probably damaging 1.00
R7102:Nwd1 UTSW 8 73,421,957 (GRCm39) missense probably damaging 1.00
R7265:Nwd1 UTSW 8 73,419,556 (GRCm39) missense probably benign 0.29
R7343:Nwd1 UTSW 8 73,438,410 (GRCm39) missense probably damaging 0.98
R7391:Nwd1 UTSW 8 73,389,046 (GRCm39) missense probably damaging 0.99
R7424:Nwd1 UTSW 8 73,401,801 (GRCm39) missense possibly damaging 0.86
R7438:Nwd1 UTSW 8 73,434,458 (GRCm39) missense probably benign 0.00
R7487:Nwd1 UTSW 8 73,393,266 (GRCm39) missense unknown
R7502:Nwd1 UTSW 8 73,434,021 (GRCm39) missense probably damaging 0.98
R7883:Nwd1 UTSW 8 73,393,754 (GRCm39) missense probably damaging 1.00
R8235:Nwd1 UTSW 8 73,438,314 (GRCm39) frame shift probably null
R8282:Nwd1 UTSW 8 73,431,580 (GRCm39) missense probably damaging 0.99
R8672:Nwd1 UTSW 8 73,394,007 (GRCm39) missense probably damaging 1.00
R8716:Nwd1 UTSW 8 73,388,908 (GRCm39) missense probably damaging 1.00
R8755:Nwd1 UTSW 8 73,394,192 (GRCm39) missense probably damaging 0.98
R8793:Nwd1 UTSW 8 73,419,704 (GRCm39) missense probably benign
R8890:Nwd1 UTSW 8 73,438,484 (GRCm39) missense probably benign 0.27
R9072:Nwd1 UTSW 8 73,422,046 (GRCm39) missense probably benign 0.00
R9073:Nwd1 UTSW 8 73,422,046 (GRCm39) missense probably benign 0.00
R9257:Nwd1 UTSW 8 73,397,566 (GRCm39) missense probably damaging 1.00
R9582:Nwd1 UTSW 8 73,421,917 (GRCm39) missense probably damaging 1.00
R9665:Nwd1 UTSW 8 73,401,106 (GRCm39) missense probably damaging 1.00
X0067:Nwd1 UTSW 8 73,393,884 (GRCm39) missense possibly damaging 0.81
Z1176:Nwd1 UTSW 8 73,398,928 (GRCm39) missense not run
Z1177:Nwd1 UTSW 8 73,436,087 (GRCm39) missense probably damaging 0.99
Z1177:Nwd1 UTSW 8 73,422,015 (GRCm39) missense possibly damaging 0.48
Z1177:Nwd1 UTSW 8 73,393,256 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCCTTAGAGGAGAAATGCTGC -3'
(R):5'- GCGTTTGATTACTAATGCCTGGC -3'

Sequencing Primer
(F):5'- TGCTGCAAAACTGATCTGAAG -3'
(R):5'- CTGGCGCTACTTCTGAGACAAATAG -3'
Posted On 2016-03-01