Incidental Mutation 'R9257:Nwd1'
ID 701949
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R9257 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73397566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 602 (L602M)
Ref Sequence ENSEMBL: ENSMUSP00000124804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093427] [ENSMUST00000160443] [ENSMUST00000161254] [ENSMUST00000161557] [ENSMUST00000228312]
AlphaFold A6H603
Predicted Effect probably damaging
Transcript: ENSMUST00000093427
AA Change: L602M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: L602M

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: L602M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: L602M

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: L643M

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,627 (GRCm39) D17V probably benign Het
9130401M01Rik A C 15: 57,892,414 (GRCm39) H128Q possibly damaging Het
Abcd2 T C 15: 91,075,315 (GRCm39) Y166C possibly damaging Het
Adamtsl4 C A 3: 95,588,575 (GRCm39) V546F probably damaging Het
Als2cl T A 9: 110,723,755 (GRCm39) V717E probably damaging Het
Atm A G 9: 53,407,150 (GRCm39) probably null Het
Atp2c1 C A 9: 105,291,851 (GRCm39) E904* probably null Het
Ccdc88c G A 12: 100,889,474 (GRCm39) S1523F possibly damaging Het
Cds1 A T 5: 101,963,751 (GRCm39) I357F probably benign Het
Cilp T A 9: 65,174,451 (GRCm39) V13D possibly damaging Het
Copz2 A G 11: 96,748,386 (GRCm39) D180G possibly damaging Het
Cpsf1 C T 15: 76,484,992 (GRCm39) E546K probably benign Het
Ctsm T C 13: 61,684,413 (GRCm39) N320D probably damaging Het
Fat3 G A 9: 15,907,863 (GRCm39) T2713I probably benign Het
Fcrl5 T A 3: 87,343,195 (GRCm39) S2T probably benign Het
Fgfr4 T C 13: 55,315,974 (GRCm39) S796P unknown Het
Flrt3 A G 2: 140,502,159 (GRCm39) F490L probably benign Het
Fras1 A T 5: 96,910,359 (GRCm39) I3263F probably damaging Het
Hydin A T 8: 111,301,648 (GRCm39) D3793V probably damaging Het
Kif5c T A 2: 49,590,604 (GRCm39) L269* probably null Het
Klhl32 A G 4: 24,649,608 (GRCm39) V396A probably benign Het
Krt1c C T 15: 101,724,926 (GRCm39) R228Q probably benign Het
Lcn9 T C 2: 25,714,784 (GRCm39) probably null Het
Lingo4 A C 3: 94,310,676 (GRCm39) D538A probably benign Het
Lonp1 G T 17: 56,927,516 (GRCm39) Y299* probably null Het
Mettl16 T A 11: 74,708,127 (GRCm39) V442D possibly damaging Het
Mettl25b G T 3: 87,831,768 (GRCm39) Q397K probably benign Het
Mis18bp1 A G 12: 65,180,631 (GRCm39) V950A probably benign Het
Mndal A T 1: 173,690,274 (GRCm39) V352E probably damaging Het
Mrpl55 T C 11: 59,096,578 (GRCm39) V117A probably benign Het
Muc6 T A 7: 141,226,738 (GRCm39) S1430C unknown Het
Myh11 C A 16: 14,087,120 (GRCm39) G119C Het
Myorg T C 4: 41,499,030 (GRCm39) D200G probably benign Het
Neu1 A G 17: 35,150,396 (GRCm39) D5G probably benign Het
Nrcam T A 12: 44,610,837 (GRCm39) D512E probably benign Het
Nup214 T G 2: 31,923,347 (GRCm39) V1292G possibly damaging Het
Or6c3b C A 10: 129,527,003 (GRCm39) L302F probably benign Het
Pck2 G T 14: 55,782,702 (GRCm39) G379W probably damaging Het
Per2 C T 1: 91,376,445 (GRCm39) V143M probably damaging Het
Pfkl A T 10: 77,825,489 (GRCm39) Y634N probably damaging Het
Phlpp1 A G 1: 106,100,281 (GRCm39) D183G possibly damaging Het
Pkdrej T A 15: 85,700,098 (GRCm39) Y1946F probably damaging Het
Plxna4 C T 6: 32,139,018 (GRCm39) D1717N probably damaging Het
Ppp1r14bl G T 1: 23,141,275 (GRCm39) T13N probably benign Het
Pramel23 T A 4: 143,425,685 (GRCm39) D86V probably damaging Het
Prdm16 A T 4: 154,422,155 (GRCm39) V879E probably damaging Het
Prr23a3 T C 9: 98,747,298 (GRCm39) V84A probably benign Het
Ptp4a1 A G 1: 30,985,346 (GRCm39) probably benign Het
Rhbdf1 T C 11: 32,160,754 (GRCm39) H634R probably benign Het
Rmi2 T C 16: 10,653,089 (GRCm39) S46P probably benign Het
Rsf1 A T 7: 97,334,918 (GRCm39) E1350D Het
Slc6a6 T A 6: 91,716,952 (GRCm39) F276Y possibly damaging Het
Sppl3 A G 5: 115,221,532 (GRCm39) Y120C probably benign Het
Stard13 G T 5: 150,985,956 (GRCm39) A518E probably benign Het
Taf2 A T 15: 54,929,409 (GRCm39) V49E possibly damaging Het
Tas2r140 T A 6: 40,468,592 (GRCm39) W141R probably damaging Het
Tlx2 T A 6: 83,047,035 (GRCm39) H9L unknown Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmem132d G A 5: 127,861,491 (GRCm39) Q877* probably null Het
Unc5d A T 8: 29,215,174 (GRCm39) probably null Het
Upp1 A T 11: 9,075,661 (GRCm39) T4S probably benign Het
Uros A T 7: 133,292,853 (GRCm39) I146N probably damaging Het
Vsig10 A T 5: 117,463,131 (GRCm39) D119V probably benign Het
Washc2 C A 6: 116,193,069 (GRCm39) Y138* probably null Het
Ywhah T A 5: 33,184,095 (GRCm39) D99E probably benign Het
Zdbf2 G A 1: 63,345,400 (GRCm39) G1260R probably damaging Het
Zfp663 T C 2: 165,195,974 (GRCm39) T82A probably benign Het
Zfp831 T A 2: 174,488,156 (GRCm39) C944S possibly 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
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
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'- TGGAGAGTGACCTGTGCATG -3'
(R):5'- AAGTCAAGGATTTGGTTGGCAG -3'

Sequencing Primer
(F):5'- ACCTGTGCATGGTTCTGCAG -3'
(R):5'- CAAAGACAGTGTCTCTTCTTAGAGCC -3'
Posted On 2022-03-25