Mutagenetix > Incidental Mutations

Incidental Mutation 'R0511:Nwd1'

46920

Institutional Source

Beutler Lab

Gene Symbol

Nwd1

Ensembl Gene

ENSMUSG00000048148

Gene Name

NACHT and WD repeat domain containing 1

Synonyms

A230063L24Rik

MMRRC Submission

038705-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72646711-72717876 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72682005 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 831 (C831Y)

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: C831Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: C831Y

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: C831Y

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

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: C831Y

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

noncoding transcript
Transcript: ENSMUST00000175535

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228312
AA Change: C872Y

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1682

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,254,071		probably null	Het
A630095E13Rik	A	T	9: 36,638,577		probably null	Het
Abca13	G	T	11: 9,294,559	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458		probably benign	Het
Adam3	A	T	8: 24,695,315	C456S	probably damaging	Het
AI464131	A	G	4: 41,498,538	F364S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571		probably benign	Het
Anapc4	A	G	5: 52,842,017		probably benign	Het
Ank3	A	T	10: 69,882,368	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,242,059		probably benign	Het
Ankrd13b	T	A	11: 77,473,288	T150S	possibly damaging	Het
Apeh	A	G	9: 108,087,055	M524T	probably benign	Het
Arl14epl	T	A	18: 46,926,417		probably null	Het
Atg2a	T	C	19: 6,252,539	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218		probably benign	Het
Bbof1	T	A	12: 84,430,271	S512T	probably benign	Het
BC055324	T	C	1: 163,971,843		probably null	Het
C130079G13Rik	A	G	3: 59,936,350	H155R	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,893,296	E124V	probably damaging	Het
Cd84	A	G	1: 171,872,927	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333		probably null	Het
Csmd1	C	T	8: 15,932,529	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038		probably benign	Het
Dach1	A	T	14: 97,901,329	H559Q	possibly damaging	Het
Dennd4c	C	T	4: 86,826,022	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980		probably benign	Het
Fam184a	G	T	10: 53,698,879	H155Q	probably benign	Het
Ganc	G	T	2: 120,448,401	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945		probably benign	Het
Gm9047	G	T	6: 29,478,170		probably benign	Het
Haus5	A	T	7: 30,659,067	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,660,143		probably null	Het
Hr	T	A	14: 70,561,912	C641*	probably null	Het
Itga10	A	G	3: 96,658,174	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607		probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267	T299A	probably benign	Het
Med25	A	G	7: 44,885,078		probably null	Het
Mpg	A	T	11: 32,230,039	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317	D842E	probably benign	Het
Nat2	C	T	8: 67,501,330	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801	E206G	probably benign	Het
Nsd3	G	A	8: 25,678,716	G629D	possibly damaging	Het
Olfr1094	A	G	2: 86,829,606	I285V	probably benign	Het
Olfr584	T	C	7: 103,085,851	I111T	probably damaging	Het
P2ry14	A	G	3: 59,116,028	S4P	possibly damaging	Het
Parp4	A	G	14: 56,635,715		probably benign	Het
Pclo	A	G	5: 14,678,285		probably benign	Het
Pclo	T	C	5: 14,679,398		probably benign	Het
Pcnt	A	T	10: 76,404,595	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216		probably benign	Het
Ptbp2	T	G	3: 119,720,964	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069		probably benign	Het
Rbm6	G	A	9: 107,847,289	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Robo1	T	C	16: 73,013,125		probably null	Het
Samd12	G	A	15: 53,860,171	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,375,240	P864L	probably benign	Het
Senp2	T	C	16: 22,036,570	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	G	A	2: 62,286,862	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860		probably benign	Het
Smg6	T	A	11: 74,929,058	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984		probably null	Het
Sugp1	A	G	8: 70,059,363	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715	N61I	probably benign	Het
Uba6	T	C	5: 86,112,750	Y990C	probably damaging	Het
Vav3	A	G	3: 109,664,440		probably benign	Het
Vmn2r55	C	T	7: 12,671,018	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660	I1023T	possibly 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
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
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
R7966:Nwd1	UTSW	8	72667126	missense	probably damaging	1.00
X0067:Nwd1	UTSW	8	72667256	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TTCTGTGCTCAGGAAGCAGGGATG -3'
(R):5'- CAGAAAGCCTAGTCAGCATGAGGTG -3'

Sequencing Primer
(F):5'- GCAGGGCCTGAGGTTGAG -3'
(R):5'- CCCGAATACCTGGCATCTG -3'

Posted On

2013-06-11