Mutagenetix > Incidental Mutations

Incidental Mutation 'R4426:Nwd1'

328174

Institutional Source

Beutler Lab

Gene Symbol

Nwd1

Ensembl Gene

ENSMUSG00000048148

Gene Name

NACHT and WD repeat domain containing 1

Synonyms

A230063L24Rik

MMRRC Submission

041697-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R4426 (G1)

Quality Score

104

Status

Not validated

Chromosome

Chromosomal Location

72646711-72717876 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72666795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 229 (K229E)

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: K229E

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

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: K229E

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: K229E

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

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: K229E

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

possibly damaging
Transcript: ENSMUST00000228312
AA Change: K270E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	G	T	5: 90,572,783	C271F	probably damaging	Het
Arhgef39	C	T	4: 43,497,112	G293E	possibly damaging	Het
Atp8a1	A	C	5: 67,774,828	I206S	probably benign	Het
BC053393	T	A	11: 46,584,420	F147L	probably benign	Het
Cacnb2	A	T	2: 14,975,215	R290*	probably null	Het
Ccdc137	T	C	11: 120,460,248	S159P	probably damaging	Het
Chil5	A	G	3: 106,019,627	S231P	probably damaging	Het
Cic	C	T	7: 25,294,008		probably benign	Het
Csmd3	A	G	15: 47,669,185	V2434A	possibly damaging	Het
Csnk1a1	A	G	18: 61,585,310		probably benign	Het
D330045A20Rik	T	C	X: 139,480,896	V134A	possibly damaging	Het
Eif4e1b	T	C	13: 54,784,483	S49P	probably benign	Het
Far1	C	A	7: 113,550,001	P194Q	probably benign	Het
Fut4	T	C	9: 14,751,381	T206A	possibly damaging	Het
Galnt7	G	T	8: 57,552,572	S209*	probably null	Het
Gas2l1	A	G	11: 5,063,908	V184A	probably benign	Het
Herc1	T	C	9: 66,496,005	L4402P	probably damaging	Het
Hoxa13	C	A	6: 52,260,729		probably benign	Het
Ighv1-9	T	A	12: 114,583,796	K42*	probably null	Het
Kif20a	C	T	18: 34,631,941	R743W	probably damaging	Het
Lama2	G	A	10: 27,422,558	R181C	probably damaging	Het
Lrp2	G	T	2: 69,506,348	T1360K	probably benign	Het
Map4k1	G	A	7: 28,988,595	V177I	probably damaging	Het
Nbea	G	A	3: 56,082,379	T352I	probably damaging	Het
Nde1	A	G	16: 14,188,336	T82A	possibly damaging	Het
Nes	A	G	3: 87,976,042	E536G	probably damaging	Het
Nms	C	T	1: 38,939,296	P4L	probably benign	Het
Nrip1	T	C	16: 76,291,405	Q1088R	possibly damaging	Het
Olfr583	T	C	7: 103,051,811	L171P	probably damaging	Het
Olfr600	A	G	7: 103,346,083	Y282H	probably damaging	Het
Pcdhac2	T	A	18: 37,144,743	S259T	probably benign	Het
Pdcd5	T	C	7: 35,646,180	D102G	possibly damaging	Het
Pgm2	T	C	4: 99,962,140	V169A	probably benign	Het
Pitpnm2	C	T	5: 124,142,123	E121K	probably benign	Het
Plin3	T	C	17: 56,286,555	Y53C	probably damaging	Het
Poc1b	T	C	10: 99,155,139		probably null	Het
Polr2c	A	T	8: 94,863,462	N232Y	probably damaging	Het
Ppp1r9b	A	T	11: 95,001,324	R188S	possibly damaging	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rab3gap2	G	A	1: 185,235,342	S141N	probably damaging	Het
Rap1gap2	C	A	11: 74,407,322	A491S	possibly damaging	Het
Rnf166	A	G	8: 122,470,240	L91P	probably damaging	Het
Robo2	T	A	16: 73,948,266	M200L	probably damaging	Het
Rp1	A	T	1: 4,347,924	H988Q	probably benign	Het
Sbno2	T	C	10: 80,072,358	K69R	probably null	Het
Sgce	G	A	6: 4,691,459	A295V	probably damaging	Het
Shc3	C	G	13: 51,480,094		probably null	Het
Slc44a1	T	C	4: 53,563,286	V671A	probably benign	Het
Sptbn4	A	C	7: 27,423,798	L233R	probably damaging	Het
Stx5a	A	G	19: 8,749,740	T252A	probably benign	Het
Tmem87b	C	T	2: 128,846,750	A485V	probably benign	Het
Tns1	A	G	1: 73,985,749	I403T	probably damaging	Het
Ttll10	G	C	4: 156,048,561	T22R	possibly damaging	Het
Uevld	A	T	7: 46,940,142	S293T	probably benign	Het
Utp18	T	C	11: 93,866,438	N467D	probably damaging	Het
Vmn1r39	A	T	6: 66,805,361		probably null	Het
Vmn2r106	A	G	17: 20,285,379	S18P	probably benign	Het
Vmn2r61	A	T	7: 42,300,733	H859L	probably benign	Het
Vmn2r61	T	C	7: 42,300,735	S860P	probably benign	Het
Vmn2r72	G	A	7: 85,737,828	R843*	probably null	Het
Vwc2	A	G	11: 11,154,235	T256A	probably damaging	Het
Zfp715	T	C	7: 43,311,092	D25G	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
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
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
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
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'- ATCGAGCTTGGCCTACTGAG -3'
(R):5'- TGGTAGACTCTGTGCTCTGC -3'

Sequencing Primer
(F):5'- GAGCTTGGCCTACTGAGCTCAG -3'
(R):5'- GCGGATCTCTTGGTAGAGCC -3'

Posted On

2015-07-07