Mutagenetix > Incidental Mutation

Incidental Mutation 'R6865:Nwd1'

535867

Institutional Source

Beutler Lab

Gene Symbol

Nwd1

Ensembl Gene

ENSMUSG00000048148

Gene Name

NACHT and WD repeat domain containing 1

Synonyms

A230063L24Rik

MMRRC Submission

045027-MU

Accession Numbers

Essential gene?

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

Stock #

R6865 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73372865-73443508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73383690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 29 (V29A)

Ref Sequence

ENSEMBL: ENSMUSP00000125470 (fasta)

Gene Model

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

AlphaFold

A6H603

Predicted Effect

probably benign
Transcript: ENSMUST00000093427
AA Change: V29A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: V29A

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

possibly damaging
Transcript: ENSMUST00000160443
AA Change: V29A

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124446
Gene: ENSMUSG00000048148
AA Change: V29A

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161254
AA Change: V29A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: V29A

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

possibly damaging
Transcript: ENSMUST00000161557
AA Change: V29A

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125470
Gene: ENSMUSG00000048148
AA Change: V29A

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228312
AA Change: V70A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	A	13: 4,320,212 (GRCm39)	M293L	possibly damaging	Het
Ankrd11	T	C	8: 123,621,683 (GRCm39)	D723G	probably benign	Het
Ankrd26	T	C	6: 118,500,442 (GRCm39)	R1010G	possibly damaging	Het
Apob	G	A	12: 8,058,847 (GRCm39)	R2410H	probably benign	Het
Auh	T	C	13: 52,992,165 (GRCm39)	D275G	probably damaging	Het
Card10	G	T	15: 78,686,822 (GRCm39)	D47E	possibly damaging	Het
Ccdc141	C	T	2: 76,859,579 (GRCm39)		probably null	Het
Cfap206	T	C	4: 34,714,448 (GRCm39)	Y416C	possibly damaging	Het
Chuk	A	T	19: 44,075,354 (GRCm39)	Y500*	probably null	Het
Cop1	T	A	1: 159,136,524 (GRCm39)	D536E	probably damaging	Het
Crh	G	C	3: 19,748,304 (GRCm39)	P113A	possibly damaging	Het
Ddx54	T	G	5: 120,759,892 (GRCm39)		probably null	Het
Efcab7	T	C	4: 99,769,793 (GRCm39)	S127P	probably damaging	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Fga	T	A	3: 82,938,848 (GRCm39)	C408S	probably damaging	Het
Flot2	T	C	11: 77,940,318 (GRCm39)	S22P	probably benign	Het
Fndc1	T	A	17: 7,991,672 (GRCm39)	T675S	unknown	Het
Foxc1	A	G	13: 31,992,836 (GRCm39)	D549G	unknown	Het
Gldc	T	C	19: 30,111,162 (GRCm39)	N538S	possibly damaging	Het
Grk4	T	G	5: 34,888,894 (GRCm39)	V346G	probably damaging	Het
Gucy2c	T	C	6: 136,747,127 (GRCm39)	R111G	probably benign	Het
Heatr6	C	T	11: 83,659,966 (GRCm39)	H504Y	probably damaging	Het
Lrp5	A	T	19: 3,670,013 (GRCm39)		probably null	Het
Msrb1	T	C	17: 24,955,685 (GRCm39)	S2P	possibly damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo3a	A	G	2: 22,464,313 (GRCm39)	I185V	probably benign	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Nek6	A	G	2: 38,459,678 (GRCm39)	I174V	probably benign	Het
Nmt2	T	C	2: 3,315,766 (GRCm39)	V252A	probably damaging	Het
Nudt9	G	T	5: 104,207,545 (GRCm39)	R179M	probably damaging	Het
Olah	T	C	2: 3,343,964 (GRCm39)	D216G	possibly damaging	Het
Or13c7b	T	C	4: 43,821,346 (GRCm39)	N5S	probably benign	Het
Or52n2	T	C	7: 104,542,719 (GRCm39)	I39V	probably benign	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pkd1	T	C	17: 24,795,461 (GRCm39)	V2318A	probably benign	Het
Pknox1	T	A	17: 31,807,534 (GRCm39)	M51K	probably damaging	Het
Ppp1r12a	C	T	10: 108,098,242 (GRCm39)	R321*	probably null	Het
Pxdn	A	G	12: 30,064,582 (GRCm39)		probably null	Het
Rab44	A	T	17: 29,358,201 (GRCm39)	I130F	probably benign	Het
Rnf130	T	C	11: 49,962,091 (GRCm39)	I179T	probably damaging	Het
Slc22a28	A	T	19: 8,041,856 (GRCm39)	C450*	probably null	Het
Slco1c1	A	T	6: 141,485,778 (GRCm39)	Y136F	probably damaging	Het
Synj2	C	T	17: 6,067,844 (GRCm39)	Q106*	probably null	Het
Uckl1	T	C	2: 181,216,286 (GRCm39)	N138S	probably damaging	Het
Usp19	G	T	9: 108,376,018 (GRCm39)	E203*	probably null	Het
Vdr	A	G	15: 97,755,386 (GRCm39)	I379T	probably damaging	Het
Zfp503	C	A	14: 22,036,101 (GRCm39)	G272C	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly damaging	Het
Zzz3	T	A	3: 152,133,690 (GRCm39)	D249E	probably benign	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
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
R6979:Nwd1	UTSW	8	73,394,288 (GRCm39)	missense	probably damaging	1.00
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'- TTACTGGAGATGCTAGGCAAG -3'
(R):5'- ACCAGTCTTTGAGGATTGGG -3'

Sequencing Primer
(F):5'- TAGGCAAGCAATCTAACACTTACC -3'
(R):5'- GCTATCAGGGACCACATTCTG -3'

Posted On

2018-10-18