Incidental Mutation 'R2393:Nwd1'
ID 247870
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission 040361-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R2393 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73389055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 202 (M202K)
Ref Sequence ENSEMBL: ENSMUSP00000154488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093427] [ENSMUST00000160443] [ENSMUST00000161254] [ENSMUST00000161557] [ENSMUST00000228312]
AlphaFold A6H603
Predicted Effect probably benign
Transcript: ENSMUST00000093427
AA Change: M161K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: M161K

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 benign
Transcript: ENSMUST00000161254
AA Change: M161K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: M161K

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: M202K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,225,057 (GRCm39) L512* probably null Het
Adam4 A T 12: 81,467,485 (GRCm39) F379I probably benign Het
Ano6 C G 15: 95,863,906 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Arfgef3 A G 10: 18,473,535 (GRCm39) V1588A possibly damaging Het
Arl8a T A 1: 135,080,604 (GRCm39) V93E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cd200r2 T A 16: 44,729,630 (GRCm39) I95N probably damaging Het
Cd209d A G 8: 3,928,436 (GRCm39) probably null Het
Cep290 A G 10: 100,397,100 (GRCm39) probably null Het
Chd2 G T 7: 73,157,631 (GRCm39) D171E possibly damaging Het
Chrna7 G A 7: 62,748,994 (GRCm39) A496V probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Colgalt1 C G 8: 72,076,385 (GRCm39) T612S probably benign Het
Copg2 T C 6: 30,787,893 (GRCm39) K602E probably benign Het
Crtc1 T A 8: 70,840,808 (GRCm39) T473S probably benign Het
Ctbp2 A T 7: 132,625,290 (GRCm39) probably null Het
Edem1 T G 6: 108,829,504 (GRCm39) M541R probably damaging Het
Ehmt1 A C 2: 24,696,229 (GRCm39) V953G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr2 T C 7: 129,828,968 (GRCm39) probably null Het
Focad A G 4: 88,039,567 (GRCm39) D10G probably damaging Het
Gfus G T 15: 75,798,200 (GRCm39) L191I probably damaging Het
Gm5901 G T 7: 105,026,996 (GRCm39) V255F possibly damaging Het
Hsp90aa1 T C 12: 110,659,840 (GRCm39) N416S probably damaging Het
Hspb1 T C 5: 135,917,950 (GRCm39) F142L probably benign Het
Il17re C T 6: 113,439,314 (GRCm39) H75Y possibly damaging Het
Kctd3 A G 1: 188,713,568 (GRCm39) I389T probably damaging Het
Lhx6 T C 2: 35,981,402 (GRCm39) D63G probably benign Het
Mepe A G 5: 104,485,327 (GRCm39) T156A possibly damaging Het
Met A G 6: 17,534,197 (GRCm39) Y680C probably damaging Het
Mrgpra3 T C 7: 47,239,365 (GRCm39) Y187C possibly damaging Het
Mst1 T G 9: 107,960,151 (GRCm39) probably null Het
Myh13 T A 11: 67,231,184 (GRCm39) S394T possibly damaging Het
Nbeal1 T A 1: 60,290,529 (GRCm39) V1042E probably damaging Het
Ndrg4 T A 8: 96,432,839 (GRCm39) Y15* probably null Het
Neurl4 G A 11: 69,797,900 (GRCm39) R720H probably damaging Het
Nfkbia A G 12: 55,537,455 (GRCm39) probably benign Het
Or10d4 G T 9: 39,580,569 (GRCm39) C72F possibly damaging Het
Or2av9 T A 11: 58,381,546 (GRCm39) I12F probably benign Het
Pate2 T C 9: 35,581,036 (GRCm39) probably benign Het
Pibf1 A G 14: 99,480,368 (GRCm39) T715A probably benign Het
Pitpnm1 T C 19: 4,160,935 (GRCm39) L858P probably benign Het
Pla2g3 A C 11: 3,443,115 (GRCm39) S483R probably benign Het
Rad51ap2 T A 12: 11,507,798 (GRCm39) D573E probably damaging Het
Rho T C 6: 115,912,352 (GRCm39) probably benign Het
Rpl39l A T 16: 9,992,328 (GRCm39) *52L probably null Het
Slco1a5 T A 6: 142,194,501 (GRCm39) R381W possibly damaging Het
Spns3 T A 11: 72,441,059 (GRCm39) probably benign Het
Srgap2 A G 1: 131,259,872 (GRCm39) S493P probably benign Het
Tecpr2 T C 12: 110,892,836 (GRCm39) S293P probably damaging Het
Ttn C T 2: 76,583,211 (GRCm39) V20815M probably benign Het
Ushbp1 T C 8: 71,847,132 (GRCm39) I167V probably benign Het
Wdr81 C T 11: 75,340,231 (GRCm39) A1296T probably damaging Het
Zmym2 A G 14: 57,158,180 (GRCm39) Y573C 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
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
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'- GCACTAAGAGCTCAGCTGAC -3'
(R):5'- GGGTCCTAGAGACTAACATTGG -3'

Sequencing Primer
(F):5'- AGATCTGGAGCTGGTGACC -3'
(R):5'- ACATTGGCCAAGGTTATGCAGTC -3'
Posted On 2014-11-11