Incidental Mutation 'R4906:Nwd1'
ID 378202
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission 042508-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R4906 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73398841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 667 (R667Q)
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: R667Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: R667Q

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 damaging
Transcript: ENSMUST00000161254
AA Change: R667Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: R667Q

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 possibly damaging
Transcript: ENSMUST00000228312
AA Change: R708Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417H12Rik T C 7: 107,223,897 (GRCm39) probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adgrf2 T C 17: 43,022,084 (GRCm39) I247V probably benign Het
Adgrv1 A G 13: 81,418,857 (GRCm39) probably null Het
Ankrd22 T A 19: 34,126,752 (GRCm39) K26I possibly damaging Het
Arhgap32 T A 9: 32,156,552 (GRCm39) probably null Het
Armc10 A G 5: 21,866,522 (GRCm39) Y262C probably damaging Het
Arrb2 A G 11: 70,330,725 (GRCm39) D374G probably benign Het
Ascc3 C T 10: 50,625,227 (GRCm39) R1675C probably damaging Het
Atg5 T C 10: 44,239,046 (GRCm39) *276R probably null Het
Bcl11b G A 12: 107,882,968 (GRCm39) T377M probably damaging Het
C1s2 C A 6: 124,612,073 (GRCm39) E104* probably null Het
Carf A T 1: 60,180,526 (GRCm39) H316L probably damaging Het
Ccdc77 A T 6: 120,311,796 (GRCm39) I234N probably damaging Het
Cd300c2 A T 11: 114,887,826 (GRCm39) V192E possibly damaging Het
Cep72 G A 13: 74,207,584 (GRCm39) R62C probably damaging Het
Clasp1 T A 1: 118,436,640 (GRCm39) L308* probably null Het
Clec2g A G 6: 128,956,411 (GRCm39) S25G probably benign Het
Cngb1 T C 8: 95,978,601 (GRCm39) M1046V probably damaging Het
Cobll1 A T 2: 64,928,037 (GRCm39) D1095E probably benign Het
Cpeb2 A G 5: 43,402,005 (GRCm39) H662R possibly damaging Het
Cps1 A T 1: 67,178,922 (GRCm39) T45S probably benign Het
Cspp1 A G 1: 10,152,553 (GRCm39) Q368R possibly damaging Het
Dcaf6 C A 1: 165,239,032 (GRCm39) probably null Het
Dcst1 T C 3: 89,257,814 (GRCm39) Y652C possibly damaging Het
Elf5 T G 2: 103,279,918 (GRCm39) Y225* probably null Het
Ermap A C 4: 119,046,015 (GRCm39) probably benign Het
Fam186b A T 15: 99,169,202 (GRCm39) V915D probably damaging Het
Fbxo34 C A 14: 47,766,911 (GRCm39) N90K probably benign Het
Flnc A G 6: 29,447,524 (GRCm39) E1109G probably damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gabpb2 A G 3: 95,097,947 (GRCm39) V242A probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm21798 A T 15: 64,689,732 (GRCm39) probably benign Het
Gpr179 A T 11: 97,237,487 (GRCm39) S345T possibly damaging Het
Gusb A T 5: 130,026,959 (GRCm39) F377L probably damaging Het
Hnrnpu T C 1: 178,156,938 (GRCm39) probably benign Het
Htr3b C T 9: 48,848,348 (GRCm39) probably null Het
Iqub A T 6: 24,501,368 (GRCm39) V194D probably damaging Het
Itga2b A G 11: 102,351,985 (GRCm39) V504A probably benign Het
Itga4 T A 2: 79,118,592 (GRCm39) F430L probably damaging Het
Jcad C A 18: 4,673,762 (GRCm39) P508H probably damaging Het
Jph1 T C 1: 17,161,835 (GRCm39) T276A probably damaging Het
Kansl2 A G 15: 98,429,771 (GRCm39) F87S possibly damaging Het
Kdm1b T C 13: 47,216,620 (GRCm39) probably null Het
Kif5b C T 18: 6,220,930 (GRCm39) D393N probably benign Het
Kmt2d A T 15: 98,747,420 (GRCm39) probably benign Het
Krt75 A G 15: 101,478,674 (GRCm39) I320T probably damaging Het
Lhfpl7 T A 5: 113,386,036 (GRCm39) M161K probably benign Het
Lipo5 T C 19: 33,443,348 (GRCm39) N156S unknown Het
Mblac2 A C 13: 81,859,706 (GRCm39) Q19P probably null Het
Mdfic2 A T 6: 98,215,080 (GRCm39) M181K probably damaging Het
Mfsd4b3-ps T C 10: 39,824,056 (GRCm39) H68R probably damaging Het
Mzb1 A T 18: 35,781,006 (GRCm39) probably null Het
Nup210l T A 3: 90,077,337 (GRCm39) I891N probably benign Het
Oas1h C T 5: 121,005,172 (GRCm39) Q207* probably null Het
Or13c7d A T 4: 43,770,476 (GRCm39) F178L possibly damaging Het
Pcdh15 C T 10: 74,340,625 (GRCm39) R1120* probably null Het
Pfkl A G 10: 77,824,144 (GRCm39) L748P probably damaging Het
Phldb2 T A 16: 45,571,758 (GRCm39) K473N probably damaging Het
Rapgef6 G A 11: 54,443,662 (GRCm39) V82I probably damaging Het
Rfc3 A T 5: 151,570,960 (GRCm39) L112Q probably damaging Het
Rsph6a T A 7: 18,801,997 (GRCm39) C349S possibly damaging Het
Sec16a A T 2: 26,331,979 (GRCm39) probably benign Het
Septin14 T A 5: 129,770,030 (GRCm39) Y222F probably benign Het
Skor2 T C 18: 76,947,990 (GRCm39) S571P possibly damaging Het
Slc13a5 T A 11: 72,148,244 (GRCm39) M264L probably damaging Het
Slc45a3 T A 1: 131,909,315 (GRCm39) V504E probably damaging Het
Smg1 C T 7: 117,751,631 (GRCm39) probably benign Het
Smim20 A G 5: 53,434,503 (GRCm39) N45S probably null Het
Spp2 A T 1: 88,339,991 (GRCm39) S111C probably damaging Het
Sspo A G 6: 48,442,664 (GRCm39) probably null Het
Sycp2 C T 2: 178,045,450 (GRCm39) probably null Het
Tas2r113 A G 6: 132,870,521 (GRCm39) N183S possibly damaging Het
Tcaf2 A T 6: 42,606,679 (GRCm39) M425K probably benign Het
Tdrp A G 8: 14,003,845 (GRCm39) V164A possibly damaging Het
Tmbim1 A G 1: 74,328,568 (GRCm39) F298S probably damaging Het
Tmem89 A G 9: 108,743,829 (GRCm39) probably benign Het
Trpm2 G T 10: 77,768,023 (GRCm39) C825* probably null Het
Tsc1 A G 2: 28,565,201 (GRCm39) E421G possibly damaging Het
Usp24 T C 4: 106,245,834 (GRCm39) I1364T probably benign Het
Vmn1r52 G A 6: 90,155,930 (GRCm39) G78E possibly damaging Het
Vmn2r73 T G 7: 85,506,829 (GRCm39) I828L probably damaging Het
Vwa5b1 A T 4: 138,338,058 (GRCm39) D87E probably benign Het
Zfp1010 T C 2: 176,957,223 (GRCm39) T92A possibly damaging Het
Zfp451 A T 1: 33,844,465 (GRCm39) D47E probably damaging Het
Zfp821 A G 8: 110,450,841 (GRCm39) E278G probably damaging Het
Zfp930 A T 8: 69,681,597 (GRCm39) T430S probably benign Het
Zfp994 G T 17: 22,419,448 (GRCm39) Y500* probably null Het
Zmat3 A T 3: 32,397,836 (GRCm39) I142N probably damaging Het
Zzef1 T A 11: 72,792,214 (GRCm39) I2266N 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
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'- TGAACCATTGAACCTTCCCATTG -3'
(R):5'- AAAGTGTGGCTCTGGGAATG -3'

Sequencing Primer
(F):5'- TTGCCCCCAAAAGCAAGAGG -3'
(R):5'- CTCTGGGAATGGAGTGGCC -3'
Posted On 2016-04-15