Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00159:Nwd1'

306568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nwd1

Ensembl Gene

ENSMUSG00000048148

Gene Name

NACHT and WD repeat domain containing 1

Synonyms

A230063L24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

IGL00159

Quality Score

Status

Chromosome

Chromosomal Location

72646711-72717876 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72671077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 648 (D648V)

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: D648V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: D648V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160912

Predicted Effect

probably damaging
Transcript: ENSMUST00000161254
AA Change: D648V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: D648V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163026

Predicted Effect

probably damaging
Transcript: ENSMUST00000228312
AA Change: D689V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	G	A	7: 118,797,047		probably null	Het
Axin1	A	T	17: 26,142,805	D41V	possibly damaging	Het
BC034090	C	A	1: 155,225,451	E718*	probably null	Het
Cdc123	G	T	2: 5,804,935	Q222K	probably benign	Het
Clip1	A	C	5: 123,603,654	V1053G	possibly damaging	Het
Dock7	T	A	4: 99,063,985	E416V	probably damaging	Het
Dydc1	T	C	14: 41,087,413	L143P	probably damaging	Het
Dync2h1	A	G	9: 7,158,839	V732A	probably benign	Het
Dzip1l	T	A	9: 99,637,777	L119Q	probably damaging	Het
Erp27	T	A	6: 136,909,502	S178C	probably damaging	Het
Fbn1	A	G	2: 125,397,873	V298A	probably benign	Het
Fbxo34	A	G	14: 47,529,474	H97R	probably damaging	Het
Gm20521	C	T	14: 54,884,622	Q81*	probably null	Het
Gspt1	T	C	16: 11,222,612	M610V	probably damaging	Het
Herc1	A	G	9: 66,437,682	Q1919R	possibly damaging	Het
Il19	A	G	1: 130,935,055		probably benign	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Lrrk2	A	G	15: 91,747,799	K1309E	possibly damaging	Het
Lurap1	T	C	4: 116,137,690	T115A	probably damaging	Het
Myo18b	G	T	5: 112,874,131	T465K	probably benign	Het
Olfr272	T	G	4: 52,911,618	M59L	possibly damaging	Het
Olfr520	G	A	7: 99,735,317	R58H	probably benign	Het
Otof	T	C	5: 30,375,904	Y1527C	probably damaging	Het
Otop3	G	A	11: 115,344,397	C285Y	probably damaging	Het
Parp3	A	G	9: 106,471,387	I478T	probably benign	Het
Pdzd2	C	T	15: 12,457,983	E265K	possibly damaging	Het
Pik3c2g	T	C	6: 139,896,125	L634P	probably damaging	Het
Prkg1	C	A	19: 31,302,340	V165L	probably benign	Het
Riok3	A	G	18: 12,148,891	I306V	possibly damaging	Het
Ror2	T	C	13: 53,113,082	D439G	probably benign	Het
Scn2a	T	A	2: 65,743,090	I1428N	probably damaging	Het
Sgcg	C	T	14: 61,232,475	D146N	probably benign	Het
Slc16a9	A	G	10: 70,282,699	R283G	probably benign	Het
Sptb	T	C	12: 76,621,331	D664G	probably benign	Het
Tmprss3	T	A	17: 31,195,008	D54V	probably damaging	Het
Ttc37	T	C	13: 76,143,278		probably null	Het
Tubd1	G	T	11: 86,565,729	V374F	probably benign	Het
Vmn2r57	A	T	7: 41,428,785	M83K	probably benign	Het
Vps13c	A	G	9: 67,945,999	E2458G	probably benign	Het
Zhx2	A	T	15: 57,822,870	E545V	probably damaging	Het

Other mutations in Nwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Nwd1	APN	8	72,711,745 (GRCm38)	missense	probably damaging	1.00
IGL01298:Nwd1	APN	8	72,662,331 (GRCm38)	missense	probably benign	0.00
IGL01333:Nwd1	APN	8	72,666,811 (GRCm38)	missense	possibly damaging	0.90
IGL01371:Nwd1	APN	8	72,675,115 (GRCm38)	missense	probably damaging	1.00
IGL02244:Nwd1	APN	8	72,707,582 (GRCm38)	missense	probably damaging	1.00
IGL02579:Nwd1	APN	8	72,707,527 (GRCm38)	missense	probably damaging	1.00
IGL02608:Nwd1	APN	8	72,667,375 (GRCm38)	missense	probably damaging	1.00
IGL02632:Nwd1	APN	8	72,667,454 (GRCm38)	missense	possibly damaging	0.80
IGL02893:Nwd1	APN	8	72,667,501 (GRCm38)	missense	probably damaging	1.00
IGL03010:Nwd1	APN	8	72,688,060 (GRCm38)	splice site	probably benign
R0017:Nwd1	UTSW	8	72,709,425 (GRCm38)	splice site	probably benign
R0066:Nwd1	UTSW	8	72,711,856 (GRCm38)	missense	probably benign	0.27
R0066:Nwd1	UTSW	8	72,711,856 (GRCm38)	missense	probably benign	0.27
R0505:Nwd1	UTSW	8	72,662,337 (GRCm38)	missense	probably damaging	0.96
R0511:Nwd1	UTSW	8	72,682,005 (GRCm38)	missense	probably damaging	1.00
R0612:Nwd1	UTSW	8	72,667,680 (GRCm38)	missense	probably damaging	0.99
R0681:Nwd1	UTSW	8	72,662,337 (GRCm38)	missense	probably damaging	0.96
R0763:Nwd1	UTSW	8	72,671,044 (GRCm38)	missense	probably damaging	1.00
R0905:Nwd1	UTSW	8	72,709,449 (GRCm38)	missense	probably damaging	0.99
R1136:Nwd1	UTSW	8	72,697,769 (GRCm38)	splice site	probably benign
R1483:Nwd1	UTSW	8	72,657,086 (GRCm38)	missense	probably damaging	0.96
R1630:Nwd1	UTSW	8	72,667,029 (GRCm38)	missense	possibly damaging	0.66
R1724:Nwd1	UTSW	8	72,711,620 (GRCm38)	missense	probably damaging	1.00
R1732:Nwd1	UTSW	8	72,666,835 (GRCm38)	missense	possibly damaging	0.96
R1885:Nwd1	UTSW	8	72,704,994 (GRCm38)	missense	probably benign	0.00
R1973:Nwd1	UTSW	8	72,704,962 (GRCm38)	missense	possibly damaging	0.46
R2393:Nwd1	UTSW	8	72,662,427 (GRCm38)	missense	probably benign
R2926:Nwd1	UTSW	8	72,667,012 (GRCm38)	missense	probably damaging	1.00
R3706:Nwd1	UTSW	8	72,667,116 (GRCm38)	missense	possibly damaging	0.66
R3916:Nwd1	UTSW	8	72,667,811 (GRCm38)	nonsense	probably null
R3917:Nwd1	UTSW	8	72,667,811 (GRCm38)	nonsense	probably null
R4153:Nwd1	UTSW	8	72,681,936 (GRCm38)	missense	probably damaging	1.00
R4426:Nwd1	UTSW	8	72,666,795 (GRCm38)	missense	probably damaging	1.00
R4435:Nwd1	UTSW	8	72,688,136 (GRCm38)	missense	possibly damaging	0.46
R4522:Nwd1	UTSW	8	72,670,951 (GRCm38)	missense	probably damaging	1.00
R4622:Nwd1	UTSW	8	72,667,300 (GRCm38)	missense	probably damaging	1.00
R4659:Nwd1	UTSW	8	72,695,321 (GRCm38)	missense	probably benign	0.03
R4694:Nwd1	UTSW	8	72,667,330 (GRCm38)	missense	probably damaging	1.00
R4837:Nwd1	UTSW	8	72,657,131 (GRCm38)	missense	probably damaging	1.00
R4844:Nwd1	UTSW	8	72,667,114 (GRCm38)	missense	probably damaging	1.00
R4906:Nwd1	UTSW	8	72,672,213 (GRCm38)	missense	probably damaging	1.00
R5041:Nwd1	UTSW	8	72,705,055 (GRCm38)	missense	possibly damaging	0.90
R5183:Nwd1	UTSW	8	72,671,086 (GRCm38)	missense	probably benign	0.07
R5416:Nwd1	UTSW	8	72,666,694 (GRCm38)	missense	possibly damaging	0.90
R5553:Nwd1	UTSW	8	72,704,976 (GRCm38)	missense	possibly damaging	0.83
R5670:Nwd1	UTSW	8	72,693,117 (GRCm38)	missense	probably damaging	0.97
R5699:Nwd1	UTSW	8	72,702,974 (GRCm38)	critical splice donor site	probably null
R5722:Nwd1	UTSW	8	72,675,244 (GRCm38)	missense	probably damaging	0.97
R5762:Nwd1	UTSW	8	72,670,914 (GRCm38)	missense	probably damaging	1.00
R5778:Nwd1	UTSW	8	72,693,117 (GRCm38)	missense	probably damaging	0.97
R5992:Nwd1	UTSW	8	72,653,573 (GRCm38)	critical splice donor site	probably null
R6163:Nwd1	UTSW	8	72,662,186 (GRCm38)	missense	probably damaging	0.96
R6164:Nwd1	UTSW	8	72,662,186 (GRCm38)	missense	probably damaging	0.96
R6165:Nwd1	UTSW	8	72,662,186 (GRCm38)	missense	probably damaging	0.96
R6212:Nwd1	UTSW	8	72,695,322 (GRCm38)	missense	possibly damaging	0.95
R6443:Nwd1	UTSW	8	72,662,366 (GRCm38)	missense	possibly damaging	0.58
R6865:Nwd1	UTSW	8	72,657,062 (GRCm38)	missense	possibly damaging	0.63
R6928:Nwd1	UTSW	8	72,682,025 (GRCm38)	missense	probably benign	0.27
R6944:Nwd1	UTSW	8	72,653,534 (GRCm38)	missense	possibly damaging	0.69
R6979:Nwd1	UTSW	8	72,667,660 (GRCm38)	missense	probably damaging	1.00
R7060:Nwd1	UTSW	8	72,666,694 (GRCm38)	missense	probably damaging	1.00
R7102:Nwd1	UTSW	8	72,695,329 (GRCm38)	missense	probably damaging	1.00
R7265:Nwd1	UTSW	8	72,692,928 (GRCm38)	missense	probably benign	0.29
R7343:Nwd1	UTSW	8	72,711,782 (GRCm38)	missense	probably damaging	0.98
R7391:Nwd1	UTSW	8	72,662,418 (GRCm38)	missense	probably damaging	0.99
R7424:Nwd1	UTSW	8	72,675,173 (GRCm38)	missense	possibly damaging	0.86
R7438:Nwd1	UTSW	8	72,707,830 (GRCm38)	missense	probably benign	0.00
R7487:Nwd1	UTSW	8	72,666,638 (GRCm38)	missense	unknown
R7502:Nwd1	UTSW	8	72,707,393 (GRCm38)	missense	probably damaging	0.98
R7883:Nwd1	UTSW	8	72,667,126 (GRCm38)	missense	probably damaging	1.00
R8235:Nwd1	UTSW	8	72,711,686 (GRCm38)	frame shift	probably null
R8282:Nwd1	UTSW	8	72,704,952 (GRCm38)	missense	probably damaging	0.99
R8672:Nwd1	UTSW	8	72,667,379 (GRCm38)	missense	probably damaging	1.00
R8716:Nwd1	UTSW	8	72,662,280 (GRCm38)	missense	probably damaging	1.00
R8755:Nwd1	UTSW	8	72,667,564 (GRCm38)	missense	probably damaging	0.98
R8793:Nwd1	UTSW	8	72,693,076 (GRCm38)	missense	probably benign
R8890:Nwd1	UTSW	8	72,711,856 (GRCm38)	missense	probably benign	0.27
R9072:Nwd1	UTSW	8	72,695,418 (GRCm38)	missense	probably benign	0.00
R9073:Nwd1	UTSW	8	72,695,418 (GRCm38)	missense	probably benign	0.00
R9257:Nwd1	UTSW	8	72,670,938 (GRCm38)	missense	probably damaging	1.00
R9582:Nwd1	UTSW	8	72,695,289 (GRCm38)	missense	probably damaging	1.00
R9665:Nwd1	UTSW	8	72,674,478 (GRCm38)	missense	probably damaging	1.00
X0067:Nwd1	UTSW	8	72,667,256 (GRCm38)	missense	possibly damaging	0.81
Z1176:Nwd1	UTSW	8	72,672,300 (GRCm38)	missense	not run
Z1177:Nwd1	UTSW	8	72,709,459 (GRCm38)	missense	probably damaging	0.99
Z1177:Nwd1	UTSW	8	72,695,387 (GRCm38)	missense	possibly damaging	0.48
Z1177:Nwd1	UTSW	8	72,666,628 (GRCm38)	missense	probably damaging	0.97

Posted On

2015-04-16