Incidental Mutation 'R7102:Nwd1'
ID 550918
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission 045194-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7102 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73421957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1001 (D1001G)
Ref Sequence ENSEMBL: ENSMUSP00000124804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093427] [ENSMUST00000160443] [ENSMUST00000161254] [ENSMUST00000161557] [ENSMUST00000228312]
AlphaFold A6H603
Predicted Effect possibly damaging
Transcript: ENSMUST00000093427
AA Change: D1001G

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: D1001G

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 benign
Transcript: ENSMUST00000160443
SMART Domains Protein: ENSMUSP00000124446
Gene: ENSMUSG00000048148

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161254
AA Change: D1001G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: D1001G

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 probably benign
Transcript: ENSMUST00000161557
SMART Domains Protein: ENSMUSP00000125470
Gene: ENSMUSG00000048148

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000228312
AA Change: D1042G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,285,215 (GRCm39) H3283L probably damaging Het
Abcb1a T G 5: 8,744,072 (GRCm39) S233A probably benign Het
Actr10 T C 12: 70,999,805 (GRCm39) probably null Het
Acvr2b C T 9: 119,261,619 (GRCm39) A380V probably damaging Het
Adcy5 A G 16: 35,119,995 (GRCm39) E1168G probably damaging Het
Akap12 C T 10: 4,303,226 (GRCm39) T117I probably damaging Het
Alox5 T A 6: 116,390,429 (GRCm39) Y516F probably benign Het
Amigo2 T C 15: 97,143,741 (GRCm39) N227S probably damaging Het
Anpep C A 7: 79,486,061 (GRCm39) V554L probably benign Het
Ap5b1 T A 19: 5,620,215 (GRCm39) V545E possibly damaging Het
Bbs9 C T 9: 22,490,849 (GRCm39) L326F probably damaging Het
Bltp1 T G 3: 36,994,947 (GRCm39) Y990D probably damaging Het
Cadps C T 14: 12,603,738 (GRCm38) G361R probably damaging Het
Ccdc57 C A 11: 120,812,557 (GRCm39) E66* probably null Het
Ccr6 G A 17: 8,475,019 (GRCm39) V75I probably benign Het
Cdk6 T C 5: 3,570,709 (GRCm39) F300S probably damaging Het
Cenpb A C 2: 131,020,799 (GRCm39) V333G probably damaging Het
Clca4a T C 3: 144,667,670 (GRCm39) I434V probably benign Het
Coro2b T A 9: 62,328,667 (GRCm39) D447V possibly damaging Het
Cpeb3 T C 19: 37,152,119 (GRCm39) S86G probably benign Het
Cry2 C A 2: 92,243,438 (GRCm39) A468S probably damaging Het
Csf2rb2 T C 15: 78,181,272 (GRCm39) Y40C probably damaging Het
Ddx49 T A 8: 70,753,726 (GRCm39) T48S probably damaging Het
Dennd10 T A 19: 60,821,034 (GRCm39) M272K probably damaging Het
Dip2c A G 13: 9,654,572 (GRCm39) T727A probably benign Het
Dnai3 A T 3: 145,761,459 (GRCm39) S632R possibly damaging Het
Ebf4 A T 2: 130,151,651 (GRCm39) I183F probably benign Het
Elavl3 G T 9: 21,930,025 (GRCm39) P293Q possibly damaging Het
Esyt1 A T 10: 128,352,105 (GRCm39) L768Q probably damaging Het
Fat2 G A 11: 55,174,260 (GRCm39) P2151L probably damaging Het
Fgfbp3 G T 19: 36,896,606 (GRCm39) A4E possibly damaging Het
Flg T A 3: 93,200,335 (GRCm39) V277D unknown Het
Fndc3b T C 3: 27,524,383 (GRCm39) D459G possibly damaging Het
Fras1 A G 5: 96,718,900 (GRCm39) Q438R probably benign Het
Glipr1l2 A T 10: 111,928,330 (GRCm39) probably null Het
Gm7347 T A 5: 26,262,382 (GRCm39) probably null Het
Grm6 G A 11: 50,753,804 (GRCm39) V703I possibly damaging Het
Gtf2h1 T A 7: 46,468,550 (GRCm39) V496E probably benign Het
Ifna12 A G 4: 88,521,388 (GRCm39) L53P probably damaging Het
Invs T A 4: 48,407,674 (GRCm39) S550T probably benign Het
Irak2 G T 6: 113,663,810 (GRCm39) C453F probably damaging Het
Itih2 G T 2: 10,110,574 (GRCm39) Q506K probably benign Het
Kidins220 T C 12: 25,107,662 (GRCm39) I1614T probably benign Het
Krtap5-3 T A 7: 141,755,992 (GRCm39) C276* probably null Het
Lama3 T A 18: 12,685,870 (GRCm39) M1128K possibly damaging Het
Lhfpl4 C T 6: 113,171,106 (GRCm39) A27T possibly damaging Het
Lyplal1 A G 1: 185,832,524 (GRCm39) V77A probably damaging Het
Malrd1 A T 2: 16,147,114 (GRCm39) E1985D unknown Het
Mlx A C 11: 100,979,802 (GRCm39) Q161P probably benign Het
Mroh2b T A 15: 4,977,485 (GRCm39) M1279K probably benign Het
Myh7b A G 2: 155,464,119 (GRCm39) E540G probably damaging Het
Neb T A 2: 52,194,067 (GRCm39) D653V probably damaging Het
Nek10 T A 14: 14,828,517 (GRCm38) L113Q probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nscme3l T A 19: 5,553,623 (GRCm39) T53S probably benign Het
Ntpcr T A 8: 126,456,794 (GRCm39) C5S unknown Het
Or12j5 T A 7: 140,084,229 (GRCm39) T48S probably benign Het
Or14a256 C T 7: 86,265,475 (GRCm39) C126Y probably benign Het
Or4p22 T A 2: 88,317,492 (GRCm39) C139S probably damaging Het
Or6c208 A C 10: 129,224,036 (GRCm39) D178A probably damaging Het
Osbpl3 T A 6: 50,297,115 (GRCm39) S564C probably damaging Het
Pax6 C A 2: 105,522,604 (GRCm39) P264T probably damaging Het
Plppr4 T C 3: 117,116,832 (GRCm39) R342G probably damaging Het
Prg4 C T 1: 150,328,005 (GRCm39) C220Y probably damaging Het
Prune2 T A 19: 17,098,577 (GRCm39) D1360E probably benign Het
Ranbp2 T A 10: 58,299,772 (GRCm39) S469T probably damaging Het
Rbfox1 A T 16: 7,187,698 (GRCm39) K43N probably benign Het
Rgs22 T C 15: 36,122,459 (GRCm39) D25G probably damaging Het
Rnf113a2 G A 12: 84,464,545 (GRCm39) G146S probably damaging Het
Sbpl T A 17: 24,173,608 (GRCm39) K55* probably null Het
Scel G A 14: 103,781,268 (GRCm39) W138* probably null Het
Scgb2b19 T C 7: 32,979,711 (GRCm39) I12V probably null Het
Scn9a T A 2: 66,379,359 (GRCm39) M358L probably damaging Het
Sdk2 C A 11: 113,733,516 (GRCm39) E924* probably null Het
Sipa1l3 T C 7: 29,048,012 (GRCm39) Q1292R possibly damaging Het
Skint4 G A 4: 111,975,298 (GRCm39) G86D probably damaging Het
Slc28a3 C T 13: 58,736,028 (GRCm39) V57I probably benign Het
Slc9a4 T C 1: 40,662,559 (GRCm39) S609P probably damaging Het
Slc9a4 C T 1: 40,619,799 (GRCm39) P42S probably benign Het
Slitrk1 T A 14: 109,150,061 (GRCm39) T217S probably benign Het
Spindoc C T 19: 7,335,807 (GRCm39) R327H probably benign Het
Stk36 T C 1: 74,661,382 (GRCm39) S470P probably benign Het
Sypl1 C T 12: 33,024,254 (GRCm39) P196L probably benign Het
Tekt4 T A 17: 25,693,718 (GRCm39) I285N probably damaging Het
Tgm5 T A 2: 120,876,979 (GRCm39) I686F possibly damaging Het
Thsd4 C A 9: 59,883,587 (GRCm39) R933L probably damaging Het
Treml1 T A 17: 48,673,700 (GRCm39) I237N probably damaging Het
Txndc16 T C 14: 45,442,839 (GRCm39) I119V probably benign Het
Ubr3 C A 2: 69,728,166 (GRCm39) N176K probably damaging Het
Vit A G 17: 78,932,426 (GRCm39) Y511C probably damaging Het
Vwa5b2 G A 16: 20,422,984 (GRCm39) G994D probably benign Het
Wnk1 T C 6: 119,925,268 (GRCm39) T1648A unknown Het
Ythdf1 G A 2: 180,553,315 (GRCm39) T300I probably damaging Het
Zan A G 5: 137,452,462 (GRCm39) probably null Het
Zbbx A G 3: 75,019,401 (GRCm39) L103P probably benign Het
Zfp105 A G 9: 122,758,869 (GRCm39) D180G probably damaging Het
Zfp114 T A 7: 23,880,083 (GRCm39) L144Q possibly damaging Het
Zfp128 T C 7: 12,624,399 (GRCm39) C256R probably damaging 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
R4837:Nwd1 UTSW 8 73,383,759 (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
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'- GCTACCTAGCTTAAGGGATAAAGC -3'
(R):5'- AGTCACTTACCAGGGCAATG -3'

Sequencing Primer
(F):5'- CCCTGGGCTTTATGGGTAC -3'
(R):5'- GCCACTGCTGAAGCCAG -3'
Posted On 2019-05-15