Incidental Mutation 'R7060:Nwd1'
ID 548188
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission 045157-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7060 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 73393322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 195 (D195A)
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: D195A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: D195A

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: D195A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: D195A

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 probably damaging
Transcript: ENSMUST00000228312
AA Change: D236A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,186,425 (GRCm39) T535S probably benign Het
Adamts19 A T 18: 58,970,712 (GRCm39) R99* probably null Het
Alg6 C T 4: 99,650,198 (GRCm39) L473F possibly damaging Het
Ankar A T 1: 72,695,272 (GRCm39) N893K probably benign Het
Ankrd54 G A 15: 78,939,739 (GRCm39) A183V possibly damaging Het
Anpep G T 7: 79,491,542 (GRCm39) T153K probably benign Het
Arap1 A G 7: 101,058,564 (GRCm39) probably null Het
Aspg A T 12: 112,089,387 (GRCm39) T392S probably benign Het
B230307C23Rik A C 16: 97,811,331 (GRCm39) R68S probably benign Het
Bdp1 G C 13: 100,196,002 (GRCm39) N1253K probably damaging Het
Ccrl2 G A 9: 110,884,682 (GRCm39) S272F probably damaging Het
Cdon T C 9: 35,398,205 (GRCm39) L974P probably damaging Het
Celsr1 C A 15: 85,916,856 (GRCm39) E372D probably benign Het
Cers1 A T 8: 70,768,555 (GRCm39) M16L possibly damaging Het
Col2a1 G T 15: 97,874,022 (GRCm39) Q1387K unknown Het
Ddx39b G A 17: 35,471,726 (GRCm39) V291M probably damaging Het
Dppa2 T A 16: 48,136,076 (GRCm39) S143T probably benign Het
Dpy19l1 A T 9: 24,334,419 (GRCm39) M583K possibly damaging Het
Eno3 A T 11: 70,552,245 (GRCm39) D299V possibly damaging Het
Epha8 C T 4: 136,658,469 (GRCm39) V969M probably damaging Het
Fcgbp A T 7: 27,791,358 (GRCm39) H873L probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fntb A C 12: 76,934,649 (GRCm39) N173T possibly damaging Het
Gins2 T A 8: 121,308,880 (GRCm39) M125L probably benign Het
Gys1 G A 7: 45,089,437 (GRCm39) A199T probably damaging Het
Herpud1 C A 8: 95,117,391 (GRCm39) H116N probably benign Het
Hoga1 C A 19: 42,048,685 (GRCm39) Y134* probably null Het
Il10ra A G 9: 45,167,522 (GRCm39) I343T probably benign Het
Inava T C 1: 136,147,935 (GRCm39) K339R possibly damaging Het
Inpp5j C T 11: 3,450,133 (GRCm39) probably null Het
Itpkb T C 1: 180,160,695 (GRCm39) S274P probably damaging Het
Kalrn C T 16: 34,177,418 (GRCm39) C249Y probably damaging Het
Klhl35 G C 7: 99,117,665 (GRCm39) A70P possibly damaging Het
Lhx1 A G 11: 84,411,108 (GRCm39) probably null Het
Lmbrd1 T C 1: 24,732,047 (GRCm39) V88A probably benign Het
Macc1 T G 12: 119,411,190 (GRCm39) L653V probably damaging Het
Madd T C 2: 91,007,452 (GRCm39) D220G probably damaging Het
Mllt10 T A 2: 18,164,371 (GRCm39) H300Q possibly damaging Het
Mlxipl G A 5: 135,161,169 (GRCm39) A363T possibly damaging Het
Mus81 G T 19: 5,537,821 (GRCm39) D78E probably benign Het
Mxd1 A T 6: 86,630,141 (GRCm39) L26M probably damaging Het
Nhsl1 C T 10: 18,402,251 (GRCm39) T1159M probably damaging Het
Nos1ap A G 1: 170,165,694 (GRCm39) S190P possibly damaging Het
Or12d13 G T 17: 37,647,352 (GRCm39) T257N probably benign Het
Or6k4 A T 1: 173,964,376 (GRCm39) D22V probably benign Het
Or8c14-ps1 G A 9: 38,101,392 (GRCm39) V124I probably damaging Het
Or8k24 T A 2: 86,216,569 (GRCm39) R64S possibly damaging Het
Otof T C 5: 30,545,700 (GRCm39) D500G possibly damaging Het
Pcgf5 T A 19: 36,420,339 (GRCm39) Y190* probably null Het
Pdcd11 C T 19: 47,099,418 (GRCm39) T839I probably benign Het
Ppard G C 17: 28,517,886 (GRCm39) S318T probably benign Het
Ppfia2 A G 10: 106,597,970 (GRCm39) K178E probably damaging Het
Ppm1n G T 7: 19,013,187 (GRCm39) R255S probably damaging Het
Ppp1r21 A G 17: 88,887,972 (GRCm39) Y693C probably damaging Het
Ppp2r5d A T 17: 46,998,279 (GRCm39) V169E possibly damaging Het
Prc1 A T 7: 79,954,121 (GRCm39) T53S probably benign Het
Pwp2 A C 10: 78,009,084 (GRCm39) probably null Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Ring1 A G 17: 34,242,364 (GRCm39) C48R probably damaging Het
Rpap1 T C 2: 119,604,043 (GRCm39) D496G probably damaging Het
Rspo4 C A 2: 151,714,998 (GRCm39) Q212K unknown Het
Samd9l T A 6: 3,372,716 (GRCm39) D1515V probably damaging Het
Serinc3 T C 2: 163,478,879 (GRCm39) T83A probably benign Het
Setd5 A C 6: 113,094,343 (GRCm39) D420A probably damaging Het
Sidt2 T C 9: 45,864,544 (GRCm39) T62A possibly damaging Het
Smarcal1 T C 1: 72,652,101 (GRCm39) V621A probably damaging Het
Srcin1 A G 11: 97,464,711 (GRCm39) L12P probably damaging Het
Stx18 G A 5: 38,278,599 (GRCm39) D165N possibly damaging Het
Sumf2 A G 5: 129,883,341 (GRCm39) K139E possibly damaging Het
Tdo2 A T 3: 81,876,866 (GRCm39) I102N probably damaging Het
Tdp1 T A 12: 99,877,947 (GRCm39) S410T probably benign Het
Tmem94 A T 11: 115,683,764 (GRCm39) I726F probably damaging Het
Ttc21a A G 9: 119,795,742 (GRCm39) E1192G probably damaging Het
Ttc8 T C 12: 98,909,726 (GRCm39) I52T probably benign Het
Vmn2r99 A T 17: 19,614,826 (GRCm39) R849* probably null Het
Wwc1 T C 11: 35,806,003 (GRCm39) K77E possibly damaging Het
Xirp2 A T 2: 67,345,952 (GRCm39) E2731V probably damaging Het
Zfp1006 A C 8: 129,945,613 (GRCm39) I404R probably benign Het
Zfp423 G A 8: 88,509,507 (GRCm39) T258I 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
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'- CCCAAGTGACTGTCCCATTTG -3'
(R):5'- CTGCTTTAGGTAACGAGCGTG -3'

Sequencing Primer
(F):5'- CCAAGTGACTGTCCCATTTGTTAAAC -3'
(R):5'- CTTGGGGTTGACCAGGTCTC -3'
Posted On 2019-05-13