Incidental Mutation 'R8716:Nwd1'
ID 669884
Institutional Source Beutler Lab
Gene Symbol Nwd1
Ensembl Gene ENSMUSG00000048148
Gene Name NACHT and WD repeat domain containing 1
Synonyms A230063L24Rik
MMRRC Submission 068569-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R8716 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 73372865-73443508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73388908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 112 (D112G)
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: D112G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: D112G

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: D112G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: D112G

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 possibly damaging
Transcript: ENSMUST00000228312
AA Change: D153G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.5%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,774 (GRCm39) Y1879C probably benign Het
Abce1 A T 8: 80,427,784 (GRCm39) I168N possibly damaging Het
Acan G A 7: 78,762,438 (GRCm39) R2004H probably damaging Het
Acsm4 T A 7: 119,307,883 (GRCm39) L340Q probably damaging Het
Actmap C A 7: 26,896,631 (GRCm39) P65T probably damaging Het
Adamts2 T A 11: 50,664,091 (GRCm39) N342K probably damaging Het
Adgrd1 A T 5: 129,265,435 (GRCm39) D725V possibly damaging Het
Ahnak T A 19: 8,986,438 (GRCm39) L2574Q probably damaging Het
Ank2 A T 3: 126,736,488 (GRCm39) L3132* probably null Het
Ap3b2 T G 7: 81,126,901 (GRCm39) E283A probably benign Het
Asb17 A T 3: 153,559,151 (GRCm39) L287F probably damaging Het
Atr T G 9: 95,789,468 (GRCm39) N1541K probably benign Het
Bcas3 G A 11: 85,471,868 (GRCm39) V711I probably damaging Het
Ccdc82 T G 9: 13,252,922 (GRCm39) Y262* probably null Het
Cd209d CAT C 8: 3,923,772 (GRCm39) probably null Het
Cdc23 GAGACTACCGAAGA GAGA 18: 34,784,735 (GRCm39) probably null Het
Cfap54 T A 10: 92,800,494 (GRCm39) L1571F probably benign Het
Clca3b C T 3: 144,550,355 (GRCm39) V197I probably benign Het
Cul9 T C 17: 46,838,840 (GRCm39) S932G probably benign Het
Cyp3a59 T A 5: 146,033,411 (GRCm39) D182E probably damaging Het
Ddx19a T C 8: 111,710,243 (GRCm39) E119G probably damaging Het
Dnah1 A G 14: 30,989,941 (GRCm39) probably benign Het
Dop1b T A 16: 93,577,673 (GRCm39) L1761* probably null Het
Ehd2 A G 7: 15,698,106 (GRCm39) S44P probably benign Het
Exoc2 T A 13: 31,095,227 (GRCm39) H223L probably damaging Het
Fam217a G A 13: 35,108,248 (GRCm39) probably benign Het
Farp1 A G 14: 121,479,855 (GRCm39) N382S probably benign Het
Gbf1 T A 19: 46,272,460 (GRCm39) L1633Q probably damaging Het
Gpn1 C T 5: 31,656,642 (GRCm39) T115I probably benign Het
Gstcd T C 3: 132,688,950 (GRCm39) D600G probably damaging Het
Ighv16-1 A C 12: 114,032,616 (GRCm39) M62R probably benign Het
Igsf3 T G 3: 101,334,739 (GRCm39) V272G probably damaging Het
Itgb2 T C 10: 77,393,787 (GRCm39) V409A probably damaging Het
Kcnh8 C T 17: 53,284,780 (GRCm39) P917S probably benign Het
Kif23 T C 9: 61,844,477 (GRCm39) T114A probably damaging Het
Krt35 A G 11: 99,987,011 (GRCm39) M1T probably null Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lonp2 T C 8: 87,442,933 (GRCm39) I798T probably benign Het
Lrp2 T A 2: 69,274,138 (GRCm39) T3971S probably benign Het
LTO1 G T 7: 144,468,930 (GRCm39) probably benign Het
Mcc C A 18: 44,582,403 (GRCm39) V758F possibly damaging Het
Naip2 C T 13: 100,280,914 (GRCm39) V1433I probably benign Het
Ndfip1 T C 18: 38,585,384 (GRCm39) F133L probably damaging Het
Nlrc4 T A 17: 74,752,985 (GRCm39) E466V probably damaging Het
Opn4 G T 14: 34,315,819 (GRCm39) R405S probably benign Het
Or10q12 T C 19: 13,746,185 (GRCm39) S160P probably damaging Het
Or2i1 C T 17: 37,508,299 (GRCm39) V112M possibly damaging Het
Or4c110 T C 2: 88,832,060 (GRCm39) T191A Het
Or7e168 C T 9: 19,720,165 (GRCm39) L184F probably damaging Het
Pde11a T A 2: 75,848,238 (GRCm39) D863V probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekhf1 A T 7: 37,921,322 (GRCm39) L82Q probably damaging Het
Pou4f3 G T 18: 42,528,593 (GRCm39) D179Y possibly damaging Het
Ppp1r12a G A 10: 108,096,749 (GRCm39) R713H probably damaging Het
Psg17 C A 7: 18,555,310 (GRCm39) G11W probably benign Het
Ptprh A T 7: 4,567,273 (GRCm39) V533D probably damaging Het
Ptprn2 A G 12: 117,219,168 (GRCm39) D933G possibly damaging Het
Rab7 T C 6: 87,989,369 (GRCm39) S34G probably damaging Het
Rfx6 A C 10: 51,557,968 (GRCm39) H147P probably damaging Het
Rprd2 T C 3: 95,684,105 (GRCm39) Y310C probably damaging Het
Samd11 A G 4: 156,333,727 (GRCm39) F201S probably benign Het
Sox7 A G 14: 64,186,037 (GRCm39) T358A probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tie1 G A 4: 118,339,935 (GRCm39) T364M possibly damaging Het
Ttn C A 2: 76,597,266 (GRCm39) L19882F probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ubr4 T C 4: 139,196,164 (GRCm39) W1267R unknown Het
Usp42 G A 5: 143,703,696 (GRCm39) P456S probably damaging Het
Vmn1r235 T C 17: 21,482,554 (GRCm39) V293A possibly damaging Het
Vmn2r90 T A 17: 17,924,343 (GRCm39) H47Q probably damaging Het
Vps13d T A 4: 144,802,348 (GRCm39) T3503S Het
Vwa5b2 T A 16: 20,415,026 (GRCm39) N349K probably benign Het
Zeb1 A T 18: 5,767,958 (GRCm39) Y823F probably damaging Het
Zfp273 T A 13: 67,974,053 (GRCm39) C394S probably damaging Het
Zfp286 G T 11: 62,671,817 (GRCm39) A147D unknown Het
Zfp831 A G 2: 174,547,049 (GRCm39) T1411A possibly 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
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
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'- GATTTGAACCCATGCCTGTCTC -3'
(R):5'- ACAGGGGACATGTTGGCTTG -3'

Sequencing Primer
(F):5'- GAACCCATGCCTGTCTCTGTCTC -3'
(R):5'- GAGGTTCCTTGGGTCTCACC -3'
Posted On 2021-04-30