Incidental Mutation 'R7424:Nwd1'
ID 575926
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission 045502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R7424 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 73401801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 774 (M774R)
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: M774R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: M774R

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 possibly damaging
Transcript: ENSMUST00000161254
AA Change: M774R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: M774R

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 benign
Transcript: ENSMUST00000228312
AA Change: M815R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (76/77)
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
6430548M08Rik C T 8: 120,872,284 (GRCm39) R71C probably damaging Het
Aanat A T 11: 116,486,455 (GRCm39) probably benign Het
Ahrr G T 13: 74,405,664 (GRCm39) S91* probably null Het
Ampd1 A T 3: 102,995,758 (GRCm39) N223Y probably benign Het
Ankar T G 1: 72,719,217 (GRCm39) N544T probably damaging Het
Ankk1 A G 9: 49,330,050 (GRCm39) S302P possibly damaging Het
Bcr T C 10: 74,992,932 (GRCm39) V809A probably benign Het
Bpifb2 A G 2: 153,732,460 (GRCm39) N353S possibly damaging Het
Cyth1 A T 11: 118,074,835 (GRCm39) probably null Het
Ddx5 A T 11: 106,673,006 (GRCm39) N506K probably benign Het
Dnaja1 A T 4: 40,730,244 (GRCm39) I239F probably benign Het
Ethe1 C T 7: 24,305,676 (GRCm39) T141I probably damaging Het
Fhip2b T C 14: 70,831,447 (GRCm39) H29R probably damaging Het
Gdap2 A T 3: 100,109,382 (GRCm39) I36F unknown Het
Gm13030 A T 4: 138,598,577 (GRCm39) D115E unknown Het
Gm17019 A T 5: 15,079,386 (GRCm39) L227Q probably damaging Het
Gm9195 T A 14: 72,673,217 (GRCm39) E2517D possibly damaging Het
Gramd2a T A 9: 59,615,354 (GRCm39) V39D possibly damaging Het
Hmcn1 C T 1: 150,506,017 (GRCm39) W3836* probably null Het
Hspa14 C T 2: 3,490,078 (GRCm39) D494N possibly damaging Het
Ifit2 A G 19: 34,550,598 (GRCm39) N46S probably benign Het
Ifna6 A T 4: 88,746,044 (GRCm39) E131V possibly damaging Het
Ift140 T C 17: 25,256,010 (GRCm39) V504A possibly damaging Het
Irgc T C 7: 24,131,653 (GRCm39) N388S probably damaging Het
Itgal T A 7: 126,916,537 (GRCm39) V743E probably benign Het
Itih5 T C 2: 10,250,448 (GRCm39) S716P probably damaging Het
Kcnab1 A T 3: 65,173,924 (GRCm39) K78N possibly damaging Het
Kif1a A T 1: 92,982,039 (GRCm39) V787E possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt39 A T 11: 99,408,917 (GRCm39) V293E probably damaging Het
Lrrn4 A G 2: 132,711,663 (GRCm39) F720S possibly damaging Het
Map2 G A 1: 66,453,983 (GRCm39) A958T possibly damaging Het
Map3k9 A G 12: 81,770,871 (GRCm39) S906P probably benign Het
Mdc1 T C 17: 36,164,201 (GRCm39) S1250P probably benign Het
Meltf G A 16: 31,703,764 (GRCm39) V164I probably damaging Het
Mtap T G 4: 89,097,699 (GRCm39) probably null Het
Mtus1 C A 8: 41,475,443 (GRCm39) V184F probably damaging Het
Myh1 A T 11: 67,104,489 (GRCm39) D1015V probably damaging Het
Ndrg1 T C 15: 66,816,787 (GRCm39) probably null Het
Nkd1 G T 8: 89,311,803 (GRCm39) V130L probably benign Het
Nsfl1c A G 2: 151,342,673 (GRCm39) D81G probably benign Het
Nt5c1b T A 12: 10,431,391 (GRCm39) probably null Het
Nucb1 T C 7: 45,148,202 (GRCm39) K204E possibly damaging Het
Or2m13 A T 16: 19,225,944 (GRCm39) V274E probably damaging Het
Or52u1 G C 7: 104,237,907 (GRCm39) E299Q probably damaging Het
Or5an1c A T 19: 12,218,318 (GRCm39) S236T possibly damaging Het
Pan3 T A 5: 147,473,082 (GRCm39) probably null Het
Pcdh15 A T 10: 74,342,317 (GRCm39) T1135S probably benign Het
Pfas A G 11: 68,890,918 (GRCm39) I331T probably damaging Het
Plxna2 T A 1: 194,488,647 (GRCm39) I1641N probably damaging Het
Pramel27 C T 4: 143,579,779 (GRCm39) P455S probably benign Het
Ptar1 A T 19: 23,695,465 (GRCm39) R311W probably damaging Het
Ranbp2 T G 10: 58,315,016 (GRCm39) M1912R probably damaging Het
Rbm12 A G 2: 155,939,223 (GRCm39) F350L possibly damaging Het
Sdhaf1 T C 7: 30,021,468 (GRCm39) D96G probably benign Het
Serpinb6b T A 13: 33,152,650 (GRCm39) M53K probably damaging Het
Sh2d6 A T 6: 72,494,147 (GRCm39) L147Q probably benign Het
Slc19a2 T A 1: 164,088,445 (GRCm39) C298S probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
St8sia2 T A 7: 73,610,650 (GRCm39) Q211L possibly damaging Het
Sult2a2 T C 7: 13,468,822 (GRCm39) I96T possibly damaging Het
Tab2 G T 10: 7,783,247 (GRCm39) H678Q probably damaging Het
Tnfaip6 A G 2: 51,928,228 (GRCm39) E14G probably benign Het
Trip11 A T 12: 101,851,457 (GRCm39) L869H probably damaging Het
Tslp T C 18: 32,952,133 (GRCm39) Y133H not run Het
Ttn T C 2: 76,571,334 (GRCm39) I26520V probably damaging Het
Ttn A G 2: 76,762,487 (GRCm39) V3374A unknown Het
Tubgcp2 T A 7: 139,587,837 (GRCm39) I263F possibly damaging Het
Uaca A G 9: 60,777,392 (GRCm39) E593G probably damaging Het
Unc13b C T 4: 43,172,235 (GRCm39) T1021I unknown Het
Ush1c T A 7: 45,874,979 (GRCm39) I131F probably benign Het
Usp24 C A 4: 106,236,304 (GRCm39) D997E probably benign Het
Usp54 T C 14: 20,627,108 (GRCm39) T517A probably benign Het
Vmn1r151 A T 7: 22,198,505 (GRCm39) M200K possibly damaging Het
Vmn2r43 T C 7: 8,258,328 (GRCm39) D295G probably damaging Het
Vmn2r70 G A 7: 85,213,076 (GRCm39) P444S probably damaging Het
Vmn2r85 G T 10: 130,254,849 (GRCm39) P612T probably damaging Het
Vps13d A T 4: 144,875,317 (GRCm39) V1736D Het
Zbtb11 A T 16: 55,810,850 (GRCm39) H336L 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
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
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'- TTGCCACCCACTGTCCATAC -3'
(R):5'- AATTGACAGATGGATGTGTAGGTT -3'

Sequencing Primer
(F):5'- CTTACTCAGGAGACACTTGGC -3'
(R):5'- GGTTGGTGAAAAATCAACTTGCAGTC -3'
Posted On 2019-10-07