Mutagenetix > Incidental Mutation

Incidental Mutation 'R8672:Nwd1'

661215

Institutional Source

Beutler Lab

Gene Symbol

Nwd1

Ensembl Gene

ENSMUSG00000048148

Gene Name

NACHT and WD repeat domain containing 1

Synonyms

A230063L24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R8672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72646711-72717876 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 72667379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 423 (H423Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124804 (fasta)

Gene Model

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

AlphaFold

A6H603

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093427
AA Change: H423Q

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: H423Q

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

probably damaging
Transcript: ENSMUST00000161254
AA Change: H423Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: H423Q

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

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

possibly damaging
Transcript: ENSMUST00000228312
AA Change: H464Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,090,329	E45*	probably null	Het
4932415D10Rik	A	T	10: 82,291,892	N1761K	probably benign	Het
9930021J03Rik	T	C	19: 29,754,164	T483A	probably benign	Het
Aadat	A	T	8: 60,506,145		probably benign	Het
Amigo3	A	G	9: 108,054,176	H266R	possibly damaging	Het
Amy2a1	A	T	3: 113,529,497	M214K	probably damaging	Het
Atp11b	A	T	3: 35,819,917	D685V	probably benign	Het
Aunip	T	A	4: 134,523,149	M135K	probably benign	Het
Card9	T	C	2: 26,357,938	T134A	probably benign	Het
Cd46	G	A	1: 195,082,641	T216I	probably benign	Het
Chit1	T	C	1: 134,151,267	V360A	unknown	Het
Crcp	A	G	5: 130,042,236	R59G	probably benign	Het
Csmd1	T	A	8: 15,926,598	E2873D	probably benign	Het
Cyp8b1	T	A	9: 121,914,920	M449L	probably benign	Het
Dpp7	T	C	2: 25,356,121	D40G	probably benign	Het
Eif4g3	T	A	4: 138,126,512	L463Q	possibly damaging	Het
Fzd9	T	C	5: 135,249,670	I454V	probably benign	Het
Gbp11	T	A	5: 105,343,809	I41F	probably damaging	Het
Gkap1	G	A	13: 58,243,848	T231I	probably damaging	Het
Heatr5b	A	G	17: 78,762,203	L1705P	probably damaging	Het
Herc3	T	A	6: 58,873,801	F467I	probably damaging	Het
Ifih1	T	C	2: 62,605,649	E699G	possibly damaging	Het
Ints5	T	A	19: 8,896,006	L443Q	probably damaging	Het
Itpr2	A	T	6: 146,374,518	C764S	probably damaging	Het
Kcnma1	A	T	14: 23,501,162	I519N	probably damaging	Het
Krtap4-1	C	T	11: 99,628,064	C40Y	unknown	Het
Mdn1	A	G	4: 32,768,793	D5384G	probably damaging	Het
Mpl	T	C	4: 118,448,913	Y310C	probably damaging	Het
Mucl1	A	G	15: 103,753,797	S48P	possibly damaging	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Nemp1	T	C	10: 127,677,119	S8P	probably benign	Het
Nisch	A	G	14: 31,173,136	C1068R	probably damaging	Het
Npr3	T	C	15: 11,851,493	N404D	probably damaging	Het
Olfr1062	T	A	2: 86,423,632	M15L	probably benign	Het
Olfr76	C	T	19: 12,120,557	V52M	probably benign	Het
Olfr792	T	A	10: 129,540,727	N63K	probably damaging	Het
Pcdh9	T	C	14: 93,887,093	N547S	probably benign	Het
Pdha2	C	A	3: 141,211,363	R128L	probably damaging	Het
Pebp1	A	G	5: 117,283,271	Y181H	probably benign	Het
Peg3	T	G	7: 6,708,524	D1233A	possibly damaging	Het
Pepd	C	A	7: 34,942,682	T146N	probably damaging	Het
Ptk2b	A	T	14: 66,156,392	D877E	probably benign	Het
Rabgap1l	A	C	1: 160,443,276	M647R	probably damaging	Het
Rp1	A	G	1: 4,348,784	S702P	possibly damaging	Het
Shb	A	T	4: 45,489,161	D238E	probably damaging	Het
Slc36a1	T	A	11: 55,232,508	V433D	possibly damaging	Het
Spen	C	T	4: 141,470,370	A3396T	probably benign	Het
Tcerg1	A	T	18: 42,553,494	K705N	probably damaging	Het
Thbs1	C	A	2: 118,113,238	N112K	probably benign	Het
Zfp658	T	C	7: 43,573,495	I398T	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
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
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'- GACCTCTCTCATGTGCAAGC -3'
(R):5'- GGTCTGTTGCAGGTTATGTAAAAC -3'

Sequencing Primer
(F):5'- CAGCAGGTACCAGAGCTACTTG -3'
(R):5'- ATGTAAAACCTGCTGGCCTG -3'

Posted On

2021-03-08