Incidental Mutation 'R1483:Nwd1'
ID 165705
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission 039536-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R1483 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73383714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 78 (P78L)
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: P37L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: P37L

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
AA Change: P37L

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124446
Gene: ENSMUSG00000048148
AA Change: P37L

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160912
Predicted Effect probably benign
Transcript: ENSMUST00000161254
AA Change: P37L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: P37L

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
AA Change: P37L

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125470
Gene: ENSMUSG00000048148
AA Change: P37L

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163026
Predicted Effect probably damaging
Transcript: ENSMUST00000228312
AA Change: P78L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,531,754 (GRCm39) T494S probably benign Het
Akap6 C T 12: 52,842,870 (GRCm39) P73S probably damaging Het
Amotl2 A T 9: 102,608,096 (GRCm39) T763S probably benign Het
Brd10 G A 19: 29,696,745 (GRCm39) P916L possibly damaging Het
Cdc5l A T 17: 45,719,290 (GRCm39) V541D possibly damaging Het
Chl1 A G 6: 103,624,248 (GRCm39) Y52C probably damaging Het
D6Wsu163e A G 6: 126,931,733 (GRCm39) E255G probably benign Het
Ddhd2 A G 8: 26,243,155 (GRCm39) S126P probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Drc3 A G 11: 60,279,715 (GRCm39) I427V probably benign Het
Drg2 T C 11: 60,350,353 (GRCm39) I104T probably damaging Het
Dst C T 1: 34,292,079 (GRCm39) A932V probably damaging Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Eif3a A T 19: 60,757,164 (GRCm39) D880E unknown Het
Elf1 T A 14: 79,818,078 (GRCm39) D569E probably benign Het
Esp6 T A 17: 40,873,816 (GRCm39) M1K probably null Het
Fer1l6 T C 15: 58,509,819 (GRCm39) V1427A possibly damaging Het
Gsta1 A T 9: 78,149,775 (GRCm39) K196M probably damaging Het
Gzme T A 14: 56,356,169 (GRCm39) I110F probably damaging Het
H2-DMa T A 17: 34,354,724 (GRCm39) V27E possibly damaging Het
H2-T10 A T 17: 36,432,038 (GRCm39) S2T probably benign Het
Hadhb A G 5: 30,374,492 (GRCm39) probably null Het
Hoxa11 G T 6: 52,220,436 (GRCm39) D282E probably damaging Het
Ifit1bl1 A G 19: 34,572,041 (GRCm39) Y139H possibly damaging Het
Ift27 A G 15: 78,049,436 (GRCm39) V88A possibly damaging Het
Knop1 C T 7: 118,452,273 (GRCm39) A149T probably damaging Het
Macf1 T A 4: 123,404,770 (GRCm39) K597I probably damaging Het
Med16 A T 10: 79,738,934 (GRCm39) I284N possibly damaging Het
Melk T A 4: 44,308,937 (GRCm39) I98K probably damaging Het
Mst1 G T 9: 107,958,849 (GRCm39) G127V probably benign Het
Nacad A G 11: 6,552,217 (GRCm39) S325P probably damaging Het
Nbea G A 3: 55,910,211 (GRCm39) P1328L probably benign Het
Nek5 C T 8: 22,586,806 (GRCm39) S335N probably benign Het
Nif3l1 C A 1: 58,486,885 (GRCm39) R24S probably benign Het
Nlrp14 T G 7: 106,789,329 (GRCm39) N39K possibly damaging Het
Nup50 T A 15: 84,823,928 (GRCm39) V427D probably damaging Het
Or5an9 T A 19: 12,187,114 (GRCm39) Y61* probably null Het
Pate8 G A 9: 36,492,620 (GRCm39) S95L probably benign Het
Pnkd A G 1: 74,388,550 (GRCm39) Y242C probably benign Het
Ppm1g T C 5: 31,360,465 (GRCm39) D423G probably benign Het
Pramel32 T A 4: 88,547,071 (GRCm39) Q116L probably damaging Het
Prkci A T 3: 31,097,941 (GRCm39) N464Y probably damaging Het
Ptprf C T 4: 118,093,161 (GRCm39) V494M possibly damaging Het
Rapgef4 T G 2: 71,885,370 (GRCm39) probably null Het
Rbak T C 5: 143,160,099 (GRCm39) E318G probably damaging Het
Rora A G 9: 69,271,667 (GRCm39) D215G probably benign Het
Rp1l1 C T 14: 64,266,496 (GRCm39) T694I possibly damaging Het
Scrib A G 15: 75,929,771 (GRCm39) L1032P probably damaging Het
Sectm1b G A 11: 120,946,652 (GRCm39) T81M probably benign Het
Sgk3 T C 1: 9,942,518 (GRCm39) F97L possibly damaging Het
Socs3 A T 11: 117,858,394 (GRCm39) Y221* probably null Het
Spata31d1e A T 13: 59,890,717 (GRCm39) S368T probably damaging Het
Tdrd6 T A 17: 43,938,498 (GRCm39) H850L probably benign Het
Tex44 G T 1: 86,354,908 (GRCm39) Q272H probably damaging Het
Tgfbr2 A C 9: 115,938,625 (GRCm39) S426A probably benign Het
Tmem39b T C 4: 129,570,456 (GRCm39) Y461C probably damaging Het
Ttn T A 2: 76,555,337 (GRCm39) D30556V probably damaging Het
Tubgcp5 T A 7: 55,475,455 (GRCm39) probably null Het
Vmn2r70 T C 7: 85,208,375 (GRCm39) I701V probably benign Het
Vps39 A T 2: 120,154,129 (GRCm39) L622Q probably damaging Het
Wdfy4 T A 14: 32,822,923 (GRCm39) H1347L probably benign Het
Xpo1 A G 11: 23,234,863 (GRCm39) I540V probably benign Het
Xylt2 A C 11: 94,560,393 (GRCm39) M294R probably benign Het
Zfp788 T G 7: 41,298,499 (GRCm39) Y326* probably null Het
Zim1 A G 7: 6,685,124 (GRCm39) F109L 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
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
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'- ACTGGAGATGCTAGGCAAGCAATC -3'
(R):5'- AAGTCCTTGTGCTCGCCAGTTC -3'

Sequencing Primer
(F):5'- caatctaacacttacccacatcc -3'
(R):5'- GCGCTACTTCTGAGACAAATAG -3'
Posted On 2014-03-28