Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02608:Nwd1'

300336

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

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL02608

Quality Score

Status

Chromosome

Chromosomal Location

72646711-72717876 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72667375 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 422 (L422P)

Ref Sequence

ENSEMBL: ENSMUSP00000124804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093427] [ENSMUST00000160443] [ENSMUST00000161254] [ENSMUST00000161557] [ENSMUST00000228312]

Predicted Effect

probably damaging
Transcript: ENSMUST00000093427
AA Change: L422P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: L422P

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: L422P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: L422P

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: L463P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; 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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	T	A	15: 102,339,192	M415L	probably benign	Het
Akap6	T	C	12: 53,010,606	S952P	probably benign	Het
Aldh3a1	A	G	11: 61,216,321	R284G	probably damaging	Het
Aldh3b1	G	T	19: 3,914,061	H414N	probably damaging	Het
Chd5	G	A	4: 152,356,107	M141I	possibly damaging	Het
Cntn2	C	T	1: 132,525,916	A340T	possibly damaging	Het
Daw1	T	A	1: 83,209,334	C288*	probably null	Het
Dcn	A	G	10: 97,483,457	E32G	probably damaging	Het
Dock5	C	T	14: 67,828,439	V372M	probably benign	Het
Etf1	T	C	18: 34,931,617	E13G	probably damaging	Het
Filip1l	A	G	16: 57,572,106	E781G	probably benign	Het
Gm8989	T	A	7: 106,329,669		noncoding transcript	Het
Gucy1a2	A	G	9: 3,635,113	I386V	probably damaging	Het
Hoxb5	T	A	11: 96,305,143		probably benign	Het
Iqch	T	A	9: 63,421,828		probably benign	Het
Itgal	C	T	7: 127,310,244	P423S	probably damaging	Het
Kti12	T	G	4: 108,848,162	L91R	probably damaging	Het
Lgals3	T	C	14: 47,385,601	M239T	probably benign	Het
Lrrc8a	T	C	2: 30,256,299	M375T	possibly damaging	Het
Ly75	T	C	2: 60,321,900	E1103G	probably benign	Het
Lyst	A	T	13: 13,712,754	E3056V	probably damaging	Het
Map3k7	T	C	4: 31,981,452		probably benign	Het
Ncor1	G	A	11: 62,373,214	T180I	probably benign	Het
Nectin4	T	C	1: 171,384,773	V313A	probably benign	Het
Nol4l	A	G	2: 153,436,293	S8P	possibly damaging	Het
Npas2	T	A	1: 39,345,446	S607T	probably benign	Het
Nup155	T	A	15: 8,109,471	M9K	probably benign	Het
Olfr114	T	A	17: 37,590,219	I45F	probably damaging	Het
Papola	G	T	12: 105,809,559	G245C	probably damaging	Het
Pcdhb6	T	C	18: 37,334,694	S223P	probably damaging	Het
Pdcd4	T	C	19: 53,927,207		probably null	Het
Pigg	T	C	5: 108,313,003	F27L	probably damaging	Het
Prpf40a	A	T	2: 53,146,153	M588K	probably damaging	Het
Psme4	A	G	11: 30,820,944	N764S	probably benign	Het
Ptar1	A	C	19: 23,705,712	E110A	possibly damaging	Het
Rbm12	A	T	2: 156,095,898		probably benign	Het
Rfx7	A	G	9: 72,617,294	T589A	probably benign	Het
Rpl21-ps4	G	T	14: 11,227,831		noncoding transcript	Het
Rpp38	T	C	2: 3,329,161	T235A	probably benign	Het
Sbno2	A	T	10: 80,067,402		probably null	Het
Scn3a	A	T	2: 65,524,166	C337*	probably null	Het
Sec61a2	T	C	2: 5,874,262	T312A	probably benign	Het
Snrpg	C	A	6: 86,376,568	D43E	probably damaging	Het
Stag1	A	T	9: 100,757,769	Q126L	probably null	Het
Taar6	A	G	10: 23,985,183	V155A	probably benign	Het
Tet1	G	A	10: 62,879,609	H136Y	possibly damaging	Het
Tet1	C	A	10: 62,839,087	S1070I	probably damaging	Het
Tfcp2	T	C	15: 100,514,110	T327A	possibly damaging	Het
Tnfrsf13c	C	T	15: 82,223,163	V144M	probably damaging	Het
Tnfrsf22	T	A	7: 143,644,796	K61*	probably null	Het
Trhr	T	C	15: 44,197,678	V198A	probably benign	Het
Trp53inp2	A	G	2: 155,386,649	R175G	probably damaging	Het
Try10	G	A	6: 41,355,487	G26R	probably damaging	Het
Vmn1r205	A	G	13: 22,592,200	V244A	probably damaging	Het
Wrnip1	T	A	13: 32,806,874	L372H	probably damaging	Het
Zfp280d	T	A	9: 72,307,979	L149Q	probably damaging	Het
Zfp445	A	G	9: 122,861,875	V85A	probably damaging	Het

Other mutations in Nwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Nwd1	APN	8	72671077	missense	probably damaging	0.99
IGL01294:Nwd1	APN	8	72711745	missense	probably damaging	1.00
IGL01298:Nwd1	APN	8	72662331	missense	probably benign	0.00
IGL01333:Nwd1	APN	8	72666811	missense	possibly damaging	0.90
IGL01371:Nwd1	APN	8	72675115	missense	probably damaging	1.00
IGL02244:Nwd1	APN	8	72707582	missense	probably damaging	1.00
IGL02579:Nwd1	APN	8	72707527	missense	probably damaging	1.00
IGL02632:Nwd1	APN	8	72667454	missense	possibly damaging	0.80
IGL02893:Nwd1	APN	8	72667501	missense	probably damaging	1.00
IGL03010:Nwd1	APN	8	72688060	splice site	probably benign
R0017:Nwd1	UTSW	8	72709425	splice site	probably benign
R0066:Nwd1	UTSW	8	72711856	missense	probably benign	0.27
R0066:Nwd1	UTSW	8	72711856	missense	probably benign	0.27
R0505:Nwd1	UTSW	8	72662337	missense	probably damaging	0.96
R0511:Nwd1	UTSW	8	72682005	missense	probably damaging	1.00
R0612:Nwd1	UTSW	8	72667680	missense	probably damaging	0.99
R0681:Nwd1	UTSW	8	72662337	missense	probably damaging	0.96
R0763:Nwd1	UTSW	8	72671044	missense	probably damaging	1.00
R0905:Nwd1	UTSW	8	72709449	missense	probably damaging	0.99
R1136:Nwd1	UTSW	8	72697769	splice site	probably benign
R1483:Nwd1	UTSW	8	72657086	missense	probably damaging	0.96
R1630:Nwd1	UTSW	8	72667029	missense	possibly damaging	0.66
R1724:Nwd1	UTSW	8	72711620	missense	probably damaging	1.00
R1732:Nwd1	UTSW	8	72666835	missense	possibly damaging	0.96
R1885:Nwd1	UTSW	8	72704994	missense	probably benign	0.00
R1973:Nwd1	UTSW	8	72704962	missense	possibly damaging	0.46
R2393:Nwd1	UTSW	8	72662427	missense	probably benign
R2926:Nwd1	UTSW	8	72667012	missense	probably damaging	1.00
R3706:Nwd1	UTSW	8	72667116	missense	possibly damaging	0.66
R3916:Nwd1	UTSW	8	72667811	nonsense	probably null
R3917:Nwd1	UTSW	8	72667811	nonsense	probably null
R4153:Nwd1	UTSW	8	72681936	missense	probably damaging	1.00
R4426:Nwd1	UTSW	8	72666795	missense	probably damaging	1.00
R4435:Nwd1	UTSW	8	72688136	missense	possibly damaging	0.46
R4522:Nwd1	UTSW	8	72670951	missense	probably damaging	1.00
R4622:Nwd1	UTSW	8	72667300	missense	probably damaging	1.00
R4659:Nwd1	UTSW	8	72695321	missense	probably benign	0.03
R4694:Nwd1	UTSW	8	72667330	missense	probably damaging	1.00
R4837:Nwd1	UTSW	8	72657131	missense	probably damaging	1.00
R4844:Nwd1	UTSW	8	72667114	missense	probably damaging	1.00
R4906:Nwd1	UTSW	8	72672213	missense	probably damaging	1.00
R5041:Nwd1	UTSW	8	72705055	missense	possibly damaging	0.90
R5183:Nwd1	UTSW	8	72671086	missense	probably benign	0.07
R5416:Nwd1	UTSW	8	72666694	missense	possibly damaging	0.90
R5553:Nwd1	UTSW	8	72704976	missense	possibly damaging	0.83
R5670:Nwd1	UTSW	8	72693117	missense	probably damaging	0.97
R5699:Nwd1	UTSW	8	72702974	critical splice donor site	probably null
R5722:Nwd1	UTSW	8	72675244	missense	probably damaging	0.97
R5762:Nwd1	UTSW	8	72670914	missense	probably damaging	1.00
R5778:Nwd1	UTSW	8	72693117	missense	probably damaging	0.97
R5992:Nwd1	UTSW	8	72653573	critical splice donor site	probably null
R6163:Nwd1	UTSW	8	72662186	missense	probably damaging	0.96
R6164:Nwd1	UTSW	8	72662186	missense	probably damaging	0.96
R6165:Nwd1	UTSW	8	72662186	missense	probably damaging	0.96
R6212:Nwd1	UTSW	8	72695322	missense	possibly damaging	0.95
R6443:Nwd1	UTSW	8	72662366	missense	possibly damaging	0.58
R6865:Nwd1	UTSW	8	72657062	missense	possibly damaging	0.63
R6928:Nwd1	UTSW	8	72682025	missense	probably benign	0.27
R6944:Nwd1	UTSW	8	72653534	missense	possibly damaging	0.69
R6979:Nwd1	UTSW	8	72667660	missense	probably damaging	1.00
R7060:Nwd1	UTSW	8	72666694	missense	probably damaging	1.00
R7102:Nwd1	UTSW	8	72695329	missense	probably damaging	1.00
R7265:Nwd1	UTSW	8	72692928	missense	probably benign	0.29
R7343:Nwd1	UTSW	8	72711782	missense	probably damaging	0.98
R7391:Nwd1	UTSW	8	72662418	missense	probably damaging	0.99
R7424:Nwd1	UTSW	8	72675173	missense	possibly damaging	0.86
R7438:Nwd1	UTSW	8	72707830	missense	probably benign	0.00
R7487:Nwd1	UTSW	8	72666638	missense	unknown
R7502:Nwd1	UTSW	8	72707393	missense	probably damaging	0.98
R7883:Nwd1	UTSW	8	72667126	missense	probably damaging	1.00
R8235:Nwd1	UTSW	8	72711686	frame shift	probably null
R8282:Nwd1	UTSW	8	72704952	missense	probably damaging	0.99
X0067:Nwd1	UTSW	8	72667256	missense	possibly damaging	0.81
Z1176:Nwd1	UTSW	8	72672300	missense	not run
Z1177:Nwd1	UTSW	8	72666628	missense	probably damaging	0.97
Z1177:Nwd1	UTSW	8	72695387	missense	possibly damaging	0.48
Z1177:Nwd1	UTSW	8	72709459	missense	probably damaging	0.99

Posted On

2015-04-16