Incidental Mutation 'R4426:Nwd1'
ID 328174
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission 041697-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R4426 (G1)
Quality Score 104
Status Not validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73393423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 229 (K229E)
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: K229E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: K229E

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 noncoding transcript
Transcript: ENSMUST00000160912
Predicted Effect probably damaging
Transcript: ENSMUST00000161254
AA Change: K229E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: K229E

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

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163026
Predicted Effect possibly damaging
Transcript: ENSMUST00000228312
AA Change: K270E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Albfm1 G T 5: 90,720,642 (GRCm39) C271F probably damaging Het
Arhgef39 C T 4: 43,497,112 (GRCm39) G293E possibly damaging Het
Atp8a1 A C 5: 67,932,171 (GRCm39) I206S probably benign Het
Cacnb2 A T 2: 14,980,026 (GRCm39) R290* probably null Het
Ccdc137 T C 11: 120,351,074 (GRCm39) S159P probably damaging Het
Chil5 A G 3: 105,926,943 (GRCm39) S231P probably damaging Het
Cic C T 7: 24,993,433 (GRCm39) probably benign Het
Csmd3 A G 15: 47,532,581 (GRCm39) V2434A possibly damaging Het
Csnk1a1 A G 18: 61,718,381 (GRCm39) probably benign Het
Eif4e1b T C 13: 54,932,296 (GRCm39) S49P probably benign Het
Far1 C A 7: 113,149,208 (GRCm39) P194Q probably benign Het
Fut4 T C 9: 14,662,677 (GRCm39) T206A possibly damaging Het
Galnt7 G T 8: 58,005,606 (GRCm39) S209* probably null Het
Gas2l1 A G 11: 5,013,908 (GRCm39) V184A probably benign Het
Herc1 T C 9: 66,403,287 (GRCm39) L4402P probably damaging Het
Hoxa13 C A 6: 52,237,714 (GRCm39) probably benign Het
Ighv1-9 T A 12: 114,547,416 (GRCm39) K42* probably null Het
Kif20a C T 18: 34,764,994 (GRCm39) R743W probably damaging Het
Lama2 G A 10: 27,298,554 (GRCm39) R181C probably damaging Het
Lrp2 G T 2: 69,336,692 (GRCm39) T1360K probably benign Het
Map4k1 G A 7: 28,688,020 (GRCm39) V177I probably damaging Het
Nbea G A 3: 55,989,800 (GRCm39) T352I probably damaging Het
Nde1 A G 16: 14,006,200 (GRCm39) T82A possibly damaging Het
Nes A G 3: 87,883,349 (GRCm39) E536G probably damaging Het
Nms C T 1: 38,978,377 (GRCm39) P4L probably benign Het
Nrip1 T C 16: 76,088,293 (GRCm39) Q1088R possibly damaging Het
Or51f1d T C 7: 102,701,018 (GRCm39) L171P probably damaging Het
Or52ad1 A G 7: 102,995,290 (GRCm39) Y282H probably damaging Het
Pcdhac2 T A 18: 37,277,796 (GRCm39) S259T probably benign Het
Pdcd5 T C 7: 35,345,605 (GRCm39) D102G possibly damaging Het
Pgm1 T C 4: 99,819,337 (GRCm39) V169A probably benign Het
Pitpnm2 C T 5: 124,280,186 (GRCm39) E121K probably benign Het
Plin3 T C 17: 56,593,555 (GRCm39) Y53C probably damaging Het
Poc1b T C 10: 98,991,001 (GRCm39) probably null Het
Polr2c A T 8: 95,590,090 (GRCm39) N232Y probably damaging Het
Ppp1r9b A T 11: 94,892,150 (GRCm39) R188S possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rab3gap2 G A 1: 184,967,539 (GRCm39) S141N probably damaging Het
Radx T C X: 138,381,645 (GRCm39) V134A possibly damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rnf166 A G 8: 123,196,979 (GRCm39) L91P probably damaging Het
Robo2 T A 16: 73,745,154 (GRCm39) M200L probably damaging Het
Rp1 A T 1: 4,418,147 (GRCm39) H988Q probably benign Het
Sbno2 T C 10: 79,908,192 (GRCm39) K69R probably null Het
Sgce G A 6: 4,691,459 (GRCm39) A295V probably damaging Het
Shc3 C G 13: 51,634,130 (GRCm39) probably null Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Sptbn4 A C 7: 27,123,223 (GRCm39) L233R probably damaging Het
Stx5a A G 19: 8,727,104 (GRCm39) T252A probably benign Het
Timd6 T A 11: 46,475,247 (GRCm39) F147L probably benign Het
Tmem87b C T 2: 128,688,670 (GRCm39) A485V probably benign Het
Tns1 A G 1: 74,024,908 (GRCm39) I403T probably damaging Het
Ttll10 G C 4: 156,133,018 (GRCm39) T22R possibly damaging Het
Uevld A T 7: 46,589,890 (GRCm39) S293T probably benign Het
Utp18 T C 11: 93,757,264 (GRCm39) N467D probably damaging Het
Vmn1r39 A T 6: 66,782,345 (GRCm39) probably null Het
Vmn2r106 A G 17: 20,505,641 (GRCm39) S18P probably benign Het
Vmn2r61 A T 7: 41,950,157 (GRCm39) H859L probably benign Het
Vmn2r61 T C 7: 41,950,159 (GRCm39) S860P probably benign Het
Vmn2r72 G A 7: 85,387,036 (GRCm39) R843* probably null Het
Vwc2 A G 11: 11,104,235 (GRCm39) T256A probably damaging Het
Zfp715 T C 7: 42,960,516 (GRCm39) D25G 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
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
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'- ATCGAGCTTGGCCTACTGAG -3'
(R):5'- TGGTAGACTCTGTGCTCTGC -3'

Sequencing Primer
(F):5'- GAGCTTGGCCTACTGAGCTCAG -3'
(R):5'- GCGGATCTCTTGGTAGAGCC -3'
Posted On 2015-07-07