Mutagenetix > Incidental Mutation

Incidental Mutation 'R1724:Nwd1'

191679

Institutional Source

Beutler Lab

Gene Symbol

Nwd1

Ensembl Gene

ENSMUSG00000048148

Gene Name

NACHT and WD repeat domain containing 1

Synonyms

A230063L24Rik

MMRRC Submission

039756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R1724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73372865-73443508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73438248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 1432 (H1432P)

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: H1474P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091135
Gene: ENSMUSG00000048148
AA Change: H1474P

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: H1432P

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

SMART Domains

Protein: ENSMUSP00000124804
Gene: ENSMUSG00000048148
AA Change: H1432P

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

noncoding transcript
Transcript: ENSMUST00000163026

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228312
AA Change: H1473P

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

Meta Mutation Damage Score

0.2076

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

Validation Efficiency

98% (50/51)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,881,306 (GRCm39)	V761A	probably benign	Het
Arap1	G	T	7: 101,049,733 (GRCm39)	A1032S	possibly damaging	Het
Atg4d	C	T	9: 21,179,741 (GRCm39)	H230Y	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bcdin3d	T	A	15: 99,368,561 (GRCm39)	K213*	probably null	Het
Cep295nl	T	A	11: 118,223,854 (GRCm39)	E330V	probably benign	Het
Col10a1	A	G	10: 34,271,714 (GRCm39)	Y562C	probably damaging	Het
Col9a2	G	A	4: 120,911,099 (GRCm39)	R578Q	probably damaging	Het
Creld1	A	G	6: 113,461,535 (GRCm39)	D85G	possibly damaging	Het
Cth	A	T	3: 157,619,364 (GRCm39)	V153D	probably damaging	Het
Dazap2	T	A	15: 100,515,884 (GRCm39)	Y71N	probably damaging	Het
Ddah1	A	C	3: 145,597,261 (GRCm39)	D269A	probably damaging	Het
Dhx9	A	C	1: 153,334,234 (GRCm39)	D975E	probably benign	Het
Erich3	T	A	3: 154,467,964 (GRCm39)	D805E	possibly damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Gabpb2	T	C	3: 95,113,826 (GRCm39)	D19G	probably damaging	Het
Gabrr1	T	A	4: 33,161,651 (GRCm39)	M325K	probably damaging	Het
Galntl5	T	G	5: 25,425,120 (GRCm39)	N379K	possibly damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Gm5356	G	A	8: 89,913,684 (GRCm39)		noncoding transcript	Het
Kifap3	C	T	1: 163,610,666 (GRCm39)	R49*	probably null	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lce1l	A	T	3: 92,757,726 (GRCm39)	V44E	unknown	Het
Lmbr1	T	A	5: 29,566,081 (GRCm39)	E48D	probably benign	Het
Nes	C	A	3: 87,884,748 (GRCm39)	N958K	probably benign	Het
Or2d2b	G	A	7: 106,705,409 (GRCm39)	H220Y	probably benign	Het
Or52h9	T	C	7: 104,202,435 (GRCm39)	F103S	probably damaging	Het
Osgepl1	A	G	1: 53,357,062 (GRCm39)	T75A	probably benign	Het
Perm1	T	C	4: 156,302,529 (GRCm39)	S358P	possibly damaging	Het
Pramel14	C	T	4: 143,720,002 (GRCm39)	G121D	probably benign	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Sdc4	G	T	2: 164,273,206 (GRCm39)	Q35K	probably benign	Het
Secisbp2	A	G	13: 51,824,882 (GRCm39)	S377G	probably benign	Het
Spag16	G	C	1: 70,532,941 (GRCm39)	G540A	probably damaging	Het
Sun1	T	A	5: 139,221,480 (GRCm39)	D517E	probably benign	Het
Taf3	A	G	2: 9,957,177 (GRCm39)	V177A	probably benign	Het
Thbs2	A	G	17: 14,906,162 (GRCm39)	L246P	possibly damaging	Het
Tle7	C	A	8: 110,836,795 (GRCm39)	T227N	probably damaging	Het
Trpm1	G	T	7: 63,885,569 (GRCm39)	G862*	probably null	Het
Trpm8	A	T	1: 88,278,578 (GRCm39)	T584S	possibly damaging	Het
Ythdc2	T	C	18: 44,961,757 (GRCm39)	S2P	probably benign	Het
Zc2hc1c	G	T	12: 85,336,586 (GRCm39)	R81L	probably benign	Het
Zfp292	C	A	4: 34,811,237 (GRCm39)	L602F	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
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
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'- TGGAGACAGAACAGCCTTCTTCCC -3'
(R):5'- TCAGAGTATGAGGCAGACCTGTGAG -3'

Sequencing Primer
(F):5'- caaacagggagccccag -3'
(R):5'- TACGGCCACTGGTTCTGC -3'

Posted On

2014-05-14