Mutagenetix > Incidental Mutation

Incidental Mutation 'R4659:Nwd1'

352682

Institutional Source

Beutler Lab

Gene Symbol

Nwd1

Ensembl Gene

ENSMUSG00000048148

Gene Name

NACHT and WD repeat domain containing 1

Synonyms

A230063L24Rik

MMRRC Submission

041919-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R4659 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72646711-72717876 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72695321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 998 (D998E)

Ref Sequence

ENSEMBL: ENSMUSP00000124804 (fasta)

Gene Model

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

AlphaFold

A6H603

Predicted Effect

probably benign
Transcript: ENSMUST00000093427
AA Change: D998E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: D998E

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 benign
Transcript: ENSMUST00000161254
AA Change: D998E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: D998E

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: ENSMUST00000162248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163026

Predicted Effect

probably benign
Transcript: ENSMUST00000228312
AA Change: D1039E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.4245

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (74/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	T	15: 8,216,276		probably benign	Het
Abcc9	C	A	6: 142,672,595		probably null	Het
Ankrd22	C	T	19: 34,125,568	V118I	probably damaging	Het
Aoc1	A	T	6: 48,906,076	E295D	probably benign	Het
Arap2	T	C	5: 62,654,126	N1114S	possibly damaging	Het
AU021092	C	G	16: 5,212,147	A335P	probably damaging	Het
Carhsp1	T	C	16: 8,664,265	T51A	probably benign	Het
Ccdc144b	T	C	3: 36,025,954	D218G	possibly damaging	Het
Cdc42bpb	T	C	12: 111,339,891	D152G	probably damaging	Het
Cep70	T	A	9: 99,296,341	D497E	possibly damaging	Het
Chrm5	T	C	2: 112,479,757	N338S	probably benign	Het
Cldn8	G	A	16: 88,562,408	H210Y	probably benign	Het
Clhc1	T	A	11: 29,578,229	*586K	probably null	Het
Dopey1	T	A	9: 86,502,032		probably benign	Het
Dync1h1	T	C	12: 110,628,767	F1371S	possibly damaging	Het
Eif6	A	G	2: 155,826,181	I46T	probably damaging	Het
Esco2	G	A	14: 65,826,586	T383M	possibly damaging	Het
Exoc8	T	C	8: 124,897,532	D32G	probably damaging	Het
Fam149b	G	T	14: 20,367,873	S216I	probably benign	Het
Fam219a	T	C	4: 41,521,645	D87G	probably null	Het
Fbxw26	A	T	9: 109,744,871	V71D	probably damaging	Het
Gabra4	T	A	5: 71,641,144	K164M	probably damaging	Het
Gm8603	G	A	17: 13,517,028		noncoding transcript	Het
Gnmt	A	G	17: 46,725,966	F239S	probably damaging	Het
Gpsm1	G	A	2: 26,319,831		probably benign	Het
Jam2	G	A	16: 84,812,952	V151M	probably damaging	Het
Kcnj1	A	T	9: 32,394,148	D2V	probably benign	Het
Limch1	C	T	5: 67,027,557	R797C	probably damaging	Het
Lrrc9	T	A	12: 72,470,264	F597I	probably damaging	Het
Lrriq3	T	A	3: 155,129,453	I275N	possibly damaging	Het
Mcoln1	T	A	8: 3,510,840	S387R	probably damaging	Het
Mgst3	T	A	1: 167,377,279	Q58L	probably damaging	Het
Mical1	G	A	10: 41,486,936		probably benign	Het
Mmp3	C	A	9: 7,453,673	D431E	probably benign	Het
Mx1	T	C	16: 97,455,239		probably null	Het
Myo7a	A	G	7: 98,085,466	L607P	probably damaging	Het
Myt1l	A	G	12: 29,849,457	N153D	probably damaging	Het
Nfu1	A	T	6: 87,019,426	T120S	probably damaging	Het
Nhlrc2	T	C	19: 56,576,267	V341A	possibly damaging	Het
Notch1	T	C	2: 26,470,889	E1148G	probably damaging	Het
Nqo1	C	T	8: 107,391,044		probably null	Het
Olfr1049	G	A	2: 86,255,013	Q227*	probably null	Het
Oxct2a	T	C	4: 123,322,680	I303V	probably benign	Het
Parp10	A	T	15: 76,242,985	D58E	probably damaging	Het
Pcdha6	T	A	18: 36,969,239	V495E	probably damaging	Het
Pitrm1	T	A	13: 6,553,182	S88R	probably benign	Het
Pxdn	T	C	12: 29,994,553	V510A	probably benign	Het
Ranbp17	T	A	11: 33,266,288	D820V	probably damaging	Het
Sec24c	G	T	14: 20,683,144	G180C	probably damaging	Het
Serpina3n	T	C	12: 104,413,493	S382P	probably benign	Het
Sestd1	A	T	2: 77,212,499	M237K	probably null	Het
Sf3a2	T	C	10: 80,803,584	I136T	probably damaging	Het
Sh3tc2	A	G	18: 61,974,509	Y197C	probably benign	Het
Speer4b	T	C	5: 27,497,895	K204E	probably benign	Het
Speer4f1	A	C	5: 17,476,223	E33A	possibly damaging	Het
Sspo	T	A	6: 48,484,213	D3529E	probably damaging	Het
Stard13	T	C	5: 151,062,788	D419G	probably benign	Het
Tg	A	G	15: 66,673,920	S164G	possibly damaging	Het
Thap12	A	G	7: 98,710,091		probably benign	Het
Thsd1	C	A	8: 22,259,298	Y667*	probably null	Het
Tnks	A	C	8: 34,849,311	Y885D	possibly damaging	Het
Ttll3	A	G	6: 113,414,141	I896V	probably benign	Het
Txnip	T	G	3: 96,559,427	F190C	probably damaging	Het
Urb1	T	C	16: 90,776,129	D1005G	probably damaging	Het
Usp3	T	C	9: 66,527,070		probably null	Het
Usp54	G	T	14: 20,564,992	Q794K	probably damaging	Het
Xrn2	A	G	2: 147,061,474	Q798R	probably benign	Het
Zfp189	A	G	4: 49,530,342	I482V	probably benign	Het
Zfp28	A	G	7: 6,393,507	N314D	probably benign	Het
Zmym4	A	G	4: 126,948,428		probably null	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
IGL02608:Nwd1	APN	8	72667375	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
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
R8672:Nwd1	UTSW	8	72667379	missense	probably damaging	1.00
R8716:Nwd1	UTSW	8	72662280	missense	probably damaging	1.00
R8755:Nwd1	UTSW	8	72667564	missense	probably damaging	0.98
R8793:Nwd1	UTSW	8	72693076	missense	probably benign
R8890:Nwd1	UTSW	8	72711856	missense	probably benign	0.27
R9072:Nwd1	UTSW	8	72695418	missense	probably benign	0.00
R9073:Nwd1	UTSW	8	72695418	missense	probably benign	0.00
R9257:Nwd1	UTSW	8	72670938	missense	probably damaging	1.00
R9582:Nwd1	UTSW	8	72695289	missense	probably damaging	1.00
R9665:Nwd1	UTSW	8	72674478	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- ATAGGCTTGCTCTGTGCTAC -3'
(R):5'- ACTTACCAGGGCAATGGAGC -3'

Sequencing Primer
(F):5'- GCTACCTAGCTTAAGGGATAAAGCC -3'
(R):5'- TTGCCCGGGACTGGATG -3'

Posted On

2015-10-08