Mutagenetix > Incidental Mutation

Incidental Mutation 'R6979:Nwd1'

542616

Institutional Source

Beutler Lab

Gene Symbol

Nwd1

Ensembl Gene

ENSMUSG00000048148

Gene Name

NACHT and WD repeat domain containing 1

Synonyms

A230063L24Rik

MMRRC Submission

045087-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R6979 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

73372865-73443508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73394288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 517 (P517L)

Ref Sequence

ENSEMBL: ENSMUSP00000091135 (fasta)

Gene Model

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

AlphaFold

A6H603

Predicted Effect

probably damaging
Transcript: ENSMUST00000093427
AA Change: P517L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: P517L

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: P517L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: P517L

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

probably damaging
Transcript: ENSMUST00000228312
AA Change: P558L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,947,424 (GRCm39)	T374M	probably benign	Het
Aspg	A	G	12: 112,087,378 (GRCm39)	D278G	possibly damaging	Het
Aspm	C	A	1: 139,408,223 (GRCm39)	A2370E	probably damaging	Het
Ccnt2	T	C	1: 127,702,873 (GRCm39)	M65T	probably damaging	Het
Cd163	A	G	6: 124,294,945 (GRCm39)	T670A	probably benign	Het
Cpne3	G	A	4: 19,533,098 (GRCm39)	T279I	probably benign	Het
Ctdspl	G	A	9: 118,869,598 (GRCm39)	V227M	probably damaging	Het
Ctnnd2	A	G	15: 30,619,376 (GRCm39)	E99G	probably damaging	Het
Dapk1	T	C	13: 60,896,095 (GRCm39)	S728P	probably damaging	Het
Dmxl2	A	G	9: 54,358,163 (GRCm39)	I512T	possibly damaging	Het
Dop1a	A	T	9: 86,403,695 (GRCm39)	T1630S	possibly damaging	Het
Dqx1	A	G	6: 83,037,992 (GRCm39)	D460G	probably damaging	Het
Foxg1	T	C	12: 49,431,567 (GRCm39)		probably benign	Het
H2-Q2	T	A	17: 35,564,623 (GRCm39)		probably null	Het
Hes6	T	C	1: 91,340,810 (GRCm39)	E17G	possibly damaging	Het
Ighv1-42	T	C	12: 114,900,848 (GRCm39)	Y79C	possibly damaging	Het
Itfg2	T	C	6: 128,388,554 (GRCm39)	D311G	probably damaging	Het
Itgb5	T	A	16: 33,740,356 (GRCm39)	C489S	probably damaging	Het
Map4k5	A	T	12: 69,869,622 (GRCm39)	C488S	probably damaging	Het
Mark1	C	T	1: 184,644,825 (GRCm39)	G377D	possibly damaging	Het
Mat2a	A	G	6: 72,412,096 (GRCm39)	V318A	probably damaging	Het
Mpp7	T	G	18: 7,355,049 (GRCm39)	N459T	possibly damaging	Het
Mrc2	C	A	11: 105,239,461 (GRCm39)	N1348K	probably damaging	Het
Mroh5	T	C	15: 73,664,978 (GRCm39)	K264R	probably benign	Het
Mtor	A	G	4: 148,608,930 (GRCm39)	M1529V	possibly damaging	Het
Mtrr	C	T	13: 68,718,122 (GRCm39)		probably null	Het
Or4a27	T	A	2: 88,559,528 (GRCm39)	R138S	probably benign	Het
Or8h10	A	G	2: 86,808,577 (GRCm39)	S188P	probably damaging	Het
Polr1c	A	G	17: 46,557,095 (GRCm39)	F63L	probably damaging	Het
Polrmt	C	T	10: 79,582,400 (GRCm39)		probably null	Het
Pomt2	T	C	12: 87,177,125 (GRCm39)	I287M	probably damaging	Het
Prkar2a	T	A	9: 108,610,342 (GRCm39)	N190K	possibly damaging	Het
Prl3d3	T	A	13: 27,341,545 (GRCm39)	Y59N	possibly damaging	Het
Prl5a1	T	A	13: 28,335,189 (GRCm39)	F199L	probably benign	Het
Prpf38b	A	G	3: 108,818,640 (GRCm39)	V40A	probably benign	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptgs1	A	G	2: 36,141,311 (GRCm39)	D586G	probably benign	Het
Slx4	T	C	16: 3,802,879 (GRCm39)	K1312E	probably damaging	Het
Smok3c	A	G	5: 138,062,987 (GRCm39)	D158G	probably benign	Het
Spen	A	T	4: 141,205,374 (GRCm39)	D1084E	unknown	Het
Tcp11l1	C	T	2: 104,536,784 (GRCm39)	G27D	probably benign	Het
Tep1	A	G	14: 51,076,094 (GRCm39)	S1679P	possibly damaging	Het
Tmem259	C	T	10: 79,814,391 (GRCm39)	V322I	possibly damaging	Het
Tmpo	A	T	10: 90,988,359 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,555,137 (GRCm39)	A30623S	probably damaging	Het
Ube2l3	G	A	16: 16,977,841 (GRCm39)		probably benign	Het
Unkl	A	G	17: 25,418,890 (GRCm39)	D146G	probably damaging	Het
Vmn1r51	A	T	6: 90,106,186 (GRCm39)	H34L	possibly damaging	Het
Vmn2r17	A	G	5: 109,576,265 (GRCm39)	T379A	possibly damaging	Het
Zfp35	G	T	18: 24,136,927 (GRCm39)	G424C	probably benign	Het
Zfp420	T	A	7: 29,575,446 (GRCm39)	H555Q	probably damaging	Het

Other mutations in Nwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Nwd1	APN	8	73,397,705 (GRCm39)	missense	probably damaging	0.99
IGL01294:Nwd1	APN	8	73,438,373 (GRCm39)	missense	probably damaging	1.00
IGL01298:Nwd1	APN	8	73,388,959 (GRCm39)	missense	probably benign	0.00
IGL01333:Nwd1	APN	8	73,393,439 (GRCm39)	missense	possibly damaging	0.90
IGL01371:Nwd1	APN	8	73,401,743 (GRCm39)	missense	probably damaging	1.00
IGL02244:Nwd1	APN	8	73,434,210 (GRCm39)	missense	probably damaging	1.00
IGL02579:Nwd1	APN	8	73,434,155 (GRCm39)	missense	probably damaging	1.00
IGL02608:Nwd1	APN	8	73,394,003 (GRCm39)	missense	probably damaging	1.00
IGL02632:Nwd1	APN	8	73,394,082 (GRCm39)	missense	possibly damaging	0.80
IGL02893:Nwd1	APN	8	73,394,129 (GRCm39)	missense	probably damaging	1.00
IGL03010:Nwd1	APN	8	73,414,688 (GRCm39)	splice site	probably benign
R0017:Nwd1	UTSW	8	73,436,053 (GRCm39)	splice site	probably benign
R0066:Nwd1	UTSW	8	73,438,484 (GRCm39)	missense	probably benign	0.27
R0066:Nwd1	UTSW	8	73,438,484 (GRCm39)	missense	probably benign	0.27
R0505:Nwd1	UTSW	8	73,388,965 (GRCm39)	missense	probably damaging	0.96
R0511:Nwd1	UTSW	8	73,408,633 (GRCm39)	missense	probably damaging	1.00
R0612:Nwd1	UTSW	8	73,394,308 (GRCm39)	missense	probably damaging	0.99
R0681:Nwd1	UTSW	8	73,388,965 (GRCm39)	missense	probably damaging	0.96
R0763:Nwd1	UTSW	8	73,397,672 (GRCm39)	missense	probably damaging	1.00
R0905:Nwd1	UTSW	8	73,436,077 (GRCm39)	missense	probably damaging	0.99
R1136:Nwd1	UTSW	8	73,424,397 (GRCm39)	splice site	probably benign
R1483:Nwd1	UTSW	8	73,383,714 (GRCm39)	missense	probably damaging	0.96
R1630:Nwd1	UTSW	8	73,393,657 (GRCm39)	missense	possibly damaging	0.66
R1724:Nwd1	UTSW	8	73,438,248 (GRCm39)	missense	probably damaging	1.00
R1732:Nwd1	UTSW	8	73,393,463 (GRCm39)	missense	possibly damaging	0.96
R1885:Nwd1	UTSW	8	73,431,622 (GRCm39)	missense	probably benign	0.00
R1973:Nwd1	UTSW	8	73,431,590 (GRCm39)	missense	possibly damaging	0.46
R2393:Nwd1	UTSW	8	73,389,055 (GRCm39)	missense	probably benign
R2926:Nwd1	UTSW	8	73,393,640 (GRCm39)	missense	probably damaging	1.00
R3706:Nwd1	UTSW	8	73,393,744 (GRCm39)	missense	possibly damaging	0.66
R3916:Nwd1	UTSW	8	73,394,439 (GRCm39)	nonsense	probably null
R3917:Nwd1	UTSW	8	73,394,439 (GRCm39)	nonsense	probably null
R4153:Nwd1	UTSW	8	73,408,564 (GRCm39)	missense	probably damaging	1.00
R4426:Nwd1	UTSW	8	73,393,423 (GRCm39)	missense	probably damaging	1.00
R4435:Nwd1	UTSW	8	73,414,764 (GRCm39)	missense	possibly damaging	0.46
R4522:Nwd1	UTSW	8	73,397,579 (GRCm39)	missense	probably damaging	1.00
R4622:Nwd1	UTSW	8	73,393,928 (GRCm39)	missense	probably damaging	1.00
R4659:Nwd1	UTSW	8	73,421,949 (GRCm39)	missense	probably benign	0.03
R4694:Nwd1	UTSW	8	73,393,958 (GRCm39)	missense	probably damaging	1.00
R4837:Nwd1	UTSW	8	73,383,759 (GRCm39)	missense	probably damaging	1.00
R4844:Nwd1	UTSW	8	73,393,742 (GRCm39)	missense	probably damaging	1.00
R4906:Nwd1	UTSW	8	73,398,841 (GRCm39)	missense	probably damaging	1.00
R5041:Nwd1	UTSW	8	73,431,683 (GRCm39)	missense	possibly damaging	0.90
R5183:Nwd1	UTSW	8	73,397,714 (GRCm39)	missense	probably benign	0.07
R5416:Nwd1	UTSW	8	73,393,322 (GRCm39)	missense	possibly damaging	0.90
R5553:Nwd1	UTSW	8	73,431,604 (GRCm39)	missense	possibly damaging	0.83
R5670:Nwd1	UTSW	8	73,419,745 (GRCm39)	missense	probably damaging	0.97
R5699:Nwd1	UTSW	8	73,429,602 (GRCm39)	critical splice donor site	probably null
R5722:Nwd1	UTSW	8	73,401,872 (GRCm39)	missense	probably damaging	0.97
R5762:Nwd1	UTSW	8	73,397,542 (GRCm39)	missense	probably damaging	1.00
R5778:Nwd1	UTSW	8	73,419,745 (GRCm39)	missense	probably damaging	0.97
R5992:Nwd1	UTSW	8	73,380,201 (GRCm39)	critical splice donor site	probably null
R6163:Nwd1	UTSW	8	73,388,814 (GRCm39)	missense	probably damaging	0.96
R6164:Nwd1	UTSW	8	73,388,814 (GRCm39)	missense	probably damaging	0.96
R6165:Nwd1	UTSW	8	73,388,814 (GRCm39)	missense	probably damaging	0.96
R6212:Nwd1	UTSW	8	73,421,950 (GRCm39)	missense	possibly damaging	0.95
R6443:Nwd1	UTSW	8	73,388,994 (GRCm39)	missense	possibly damaging	0.58
R6865:Nwd1	UTSW	8	73,383,690 (GRCm39)	missense	possibly damaging	0.63
R6928:Nwd1	UTSW	8	73,408,653 (GRCm39)	missense	probably benign	0.27
R6944:Nwd1	UTSW	8	73,380,162 (GRCm39)	missense	possibly damaging	0.69
R7060:Nwd1	UTSW	8	73,393,322 (GRCm39)	missense	probably damaging	1.00
R7102:Nwd1	UTSW	8	73,421,957 (GRCm39)	missense	probably damaging	1.00
R7265:Nwd1	UTSW	8	73,419,556 (GRCm39)	missense	probably benign	0.29
R7343:Nwd1	UTSW	8	73,438,410 (GRCm39)	missense	probably damaging	0.98
R7391:Nwd1	UTSW	8	73,389,046 (GRCm39)	missense	probably damaging	0.99
R7424:Nwd1	UTSW	8	73,401,801 (GRCm39)	missense	possibly damaging	0.86
R7438:Nwd1	UTSW	8	73,434,458 (GRCm39)	missense	probably benign	0.00
R7487:Nwd1	UTSW	8	73,393,266 (GRCm39)	missense	unknown
R7502:Nwd1	UTSW	8	73,434,021 (GRCm39)	missense	probably damaging	0.98
R7883:Nwd1	UTSW	8	73,393,754 (GRCm39)	missense	probably damaging	1.00
R8235:Nwd1	UTSW	8	73,438,314 (GRCm39)	frame shift	probably null
R8282:Nwd1	UTSW	8	73,431,580 (GRCm39)	missense	probably damaging	0.99
R8672:Nwd1	UTSW	8	73,394,007 (GRCm39)	missense	probably damaging	1.00
R8716:Nwd1	UTSW	8	73,388,908 (GRCm39)	missense	probably damaging	1.00
R8755:Nwd1	UTSW	8	73,394,192 (GRCm39)	missense	probably damaging	0.98
R8793:Nwd1	UTSW	8	73,419,704 (GRCm39)	missense	probably benign
R8890:Nwd1	UTSW	8	73,438,484 (GRCm39)	missense	probably benign	0.27
R9072:Nwd1	UTSW	8	73,422,046 (GRCm39)	missense	probably benign	0.00
R9073:Nwd1	UTSW	8	73,422,046 (GRCm39)	missense	probably benign	0.00
R9257:Nwd1	UTSW	8	73,397,566 (GRCm39)	missense	probably damaging	1.00
R9582:Nwd1	UTSW	8	73,421,917 (GRCm39)	missense	probably damaging	1.00
R9665:Nwd1	UTSW	8	73,401,106 (GRCm39)	missense	probably damaging	1.00
X0067:Nwd1	UTSW	8	73,393,884 (GRCm39)	missense	possibly damaging	0.81
Z1176:Nwd1	UTSW	8	73,398,928 (GRCm39)	missense	not run
Z1177:Nwd1	UTSW	8	73,436,087 (GRCm39)	missense	probably damaging	0.99
Z1177:Nwd1	UTSW	8	73,422,015 (GRCm39)	missense	possibly damaging	0.48
Z1177:Nwd1	UTSW	8	73,393,256 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGACCTGGACTCCATATGCC -3'
(R):5'- ATGTGTCTCCTCCAGGCGTATAC -3'

Sequencing Primer
(F):5'- CATATGCCATTCTCCGAGGG -3'
(R):5'- TCCAGGCGTATACAGAGCTG -3'

Posted On

2018-11-28