Incidental Mutation 'R6163:Nwd1'
ID 489977
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6163 (G1)
Quality Score 173.009
Status Not validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73388814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 81 (R81W)
Ref Sequence ENSEMBL: ENSMUSP00000091135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093427] [ENSMUST00000160443] [ENSMUST00000161254] [ENSMUST00000161557] [ENSMUST00000228312]
AlphaFold A6H603
Predicted Effect probably damaging
Transcript: ENSMUST00000093427
AA Change: R81W

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: R81W

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 possibly damaging
Transcript: ENSMUST00000161254
AA Change: R81W

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: R81W

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 probably benign
Transcript: ENSMUST00000228312
AA Change: R122W

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 144,982,098 (GRCm39) Q228* probably null Het
Asic5 A G 3: 81,913,833 (GRCm39) N169S probably damaging Het
Atad2b T A 12: 5,004,593 (GRCm39) L374H probably benign Het
Birc2 G A 9: 7,819,036 (GRCm39) T544I probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Cc2d2b C T 19: 40,744,950 (GRCm39) T23I probably benign Het
Ccdc137 G T 11: 120,350,927 (GRCm39) R108L possibly damaging Het
Cenpe T C 3: 134,974,764 (GRCm39) I2308T probably damaging Het
Clec2m C T 6: 129,303,710 (GRCm39) R85H probably benign Het
Cpt1b T C 15: 89,308,620 (GRCm39) T103A probably benign Het
Cpvl C A 6: 53,850,503 (GRCm39) V445F probably damaging Het
Cttnbp2 A G 6: 18,434,950 (GRCm39) S303P possibly damaging Het
Cyp17a1 T A 19: 46,657,761 (GRCm39) I264F possibly damaging Het
Cyp51 T A 5: 4,150,199 (GRCm39) I175F probably damaging Het
Dennd4c C T 4: 86,723,828 (GRCm39) P695S possibly damaging Het
Dlgap2 A T 8: 14,896,641 (GRCm39) Q1039L probably damaging Het
Dnah14 T C 1: 181,493,926 (GRCm39) L1694P probably benign Het
Dnah2 G A 11: 69,411,729 (GRCm39) Q298* probably null Het
Dsg2 G T 18: 20,731,726 (GRCm39) probably null Het
Esr2 A C 12: 76,168,643 (GRCm39) V522G probably damaging Het
Fmo9 T A 1: 166,494,962 (GRCm39) H262L probably benign Het
Glb1l T A 1: 75,178,051 (GRCm39) M373L probably benign Het
Gls A G 1: 52,254,735 (GRCm39) S247P probably benign Het
Gm37240 T A 3: 84,423,092 (GRCm39) E213D probably damaging Het
Gmip T A 8: 70,270,022 (GRCm39) V675E probably benign Het
Grb10 C A 11: 11,893,932 (GRCm39) E330* probably null Het
H2ac13 A T 13: 21,900,859 (GRCm39) N90Y probably damaging Het
Hivep2 A G 10: 14,005,736 (GRCm39) K778R probably damaging Het
Ighv1-26 T C 12: 114,752,416 (GRCm39) S4G probably benign Het
Igkv3-3 T A 6: 70,664,257 (GRCm39) V33E possibly damaging Het
Itga2 C A 13: 115,002,726 (GRCm39) G588V probably damaging Het
Itpr1 C T 6: 108,365,245 (GRCm39) H58Y probably damaging Het
Jmjd1c T A 10: 67,083,827 (GRCm39) D2365E possibly damaging Het
Limk1 T C 5: 134,686,809 (GRCm39) Y518C probably damaging Het
Marchf6 G C 15: 31,465,497 (GRCm39) H802Q probably benign Het
Mark2 A G 19: 7,268,126 (GRCm39) S26P probably benign Het
Mdn1 T A 4: 32,716,040 (GRCm39) L2074Q probably damaging Het
Mrpl37 T C 4: 106,921,793 (GRCm39) E174G possibly damaging Het
Mtcl1 T C 17: 66,686,326 (GRCm39) H860R probably benign Het
Neurod1 A G 2: 79,284,505 (GRCm39) F293L probably benign Het
Nwd2 C A 5: 63,963,131 (GRCm39) A905E probably benign Het
Or14a260 A T 7: 85,985,592 (GRCm39) I4N possibly damaging Het
Or1x6 T A 11: 50,939,595 (GRCm39) Y220* probably null Het
Or5b12b A C 19: 12,861,472 (GRCm39) T76P probably damaging Het
Or7e169 A G 9: 19,757,024 (GRCm39) I297T probably benign Het
Otop1 C A 5: 38,445,234 (GRCm39) probably null Het
Otp A G 13: 95,012,288 (GRCm39) H4R probably damaging Het
P4htm A C 9: 108,459,150 (GRCm39) Y261D probably damaging Het
Pcsk5 A T 19: 17,450,405 (GRCm39) C1148S probably damaging Het
Plekhg1 A T 10: 3,914,369 (GRCm39) R1419W probably damaging Het
Pramel20 A G 4: 143,298,605 (GRCm39) K183E probably damaging Het
Prkd3 C A 17: 79,273,784 (GRCm39) D491Y possibly damaging Het
Prr11 A C 11: 86,994,454 (GRCm39) L64R possibly damaging Het
Pygo1 G T 9: 72,851,980 (GRCm39) A56S probably damaging Het
Rexo5 A G 7: 119,404,470 (GRCm39) T189A probably damaging Het
Rnf213 A T 11: 119,349,254 (GRCm39) H3784L possibly damaging Het
Rps6ka5 T G 12: 100,562,179 (GRCm39) probably null Het
Slco2b1 T A 7: 99,338,106 (GRCm39) I93F probably damaging Het
Slfn8 T C 11: 82,894,690 (GRCm39) *408W probably null Het
Sptbn1 C A 11: 30,109,443 (GRCm39) E51* probably null Het
Ssc5d T A 7: 4,930,253 (GRCm39) H111Q probably damaging Het
Sult1c2 T C 17: 54,280,981 (GRCm39) N41D probably benign Het
Taar8c G A 10: 23,977,116 (GRCm39) T232I probably benign Het
Tdo2 T C 3: 81,882,710 (GRCm39) E2G possibly damaging Het
Tff2 T C 17: 31,363,152 (GRCm39) E24G probably benign Het
Tjp2 C A 19: 24,103,068 (GRCm39) probably null Het
Tnfrsf1b A T 4: 144,946,477 (GRCm39) D311E probably benign Het
Usp15 G T 10: 123,004,210 (GRCm39) N181K probably damaging Het
Vmn1r175 T G 7: 23,508,591 (GRCm39) E12A possibly damaging Het
Vmn1r47 T C 6: 89,999,773 (GRCm39) S302P probably damaging Het
Vmn2r58 A G 7: 41,486,825 (GRCm39) M690T probably benign Het
Wee1 T A 7: 109,734,858 (GRCm39) H465Q probably damaging Het
Zfr C T 15: 12,146,331 (GRCm39) A294V unknown 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
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'- TTTGTGTAATAGTCACACCATCAGG -3'
(R):5'- ATTGCTCCTGGCTGATGAGG -3'

Sequencing Primer
(F):5'- GTGACCATGAACACCAAGCTGG -3'
(R):5'- ACAGAGGTTAAGGTGGCCTC -3'
Posted On 2017-10-10