Mutagenetix > Incidental Mutations

Incidental Mutation 'R1186:Nwd2'

102104

Institutional Source

Beutler Lab

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

MMRRC Submission

039258-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R1186 (G1)

Quality Score

127

Status

Validated

Chromosome

Chromosomal Location

63649102-63810546 bp(+) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

C to T at 63650024 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159584] [ENSMUST00000162166]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000067917

SMART Domains

Protein: ENSMUSP00000066687
Gene: ENSMUSG00000054714

Domain	Start	End	E-Value	Type
low complexity region	61	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159584

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061

Domain	Start	End	E-Value	Type
Pfam:DUF4062	42	145	1.5e-8	PFAM
Blast:AAA	408	691	3e-29	BLAST
WD40	939	995	1.06e2	SMART
WD40	998	1037	8.96e-2	SMART
Blast:WD40	1091	1126	9e-19	BLAST
Blast:WD40	1129	1170	1e-17	BLAST
Blast:WD40	1220	1260	3e-16	BLAST
WD40	1263	1302	3.4e-2	SMART
WD40	1347	1385	2.65e1	SMART
WD40	1386	1425	1.58e2	SMART
Blast:WD40	1466	1507	3e-19	BLAST
Blast:WD40	1606	1644	4e-18	BLAST
Blast:KR	1686	1730	2e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160066

Predicted Effect

probably benign
Transcript: ENSMUST00000162166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198686

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,621,652	R64Q	probably benign	Het
4932438A13Rik	T	C	3: 36,996,312		probably benign	Het
9530068E07Rik	G	A	11: 52,403,078	V49I	probably benign	Het
A2m	T	C	6: 121,661,534	S902P	probably benign	Het
Aatf	A	T	11: 84,470,549		probably benign	Het
Adamtsl1	A	G	4: 86,388,509	T1395A	probably benign	Het
Alpk2	T	C	18: 65,294,341		probably null	Het
Ank3	G	T	10: 69,867,460	A308S	probably damaging	Het
Arap1	A	G	7: 101,404,269		probably benign	Het
C4b	T	C	17: 34,736,309	D769G	possibly damaging	Het
Cep350	A	G	1: 155,875,376	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,875,994	I2704F	unknown	Het
Crip2	G	A	12: 113,144,959		probably benign	Het
Cyp4f14	T	C	17: 32,916,786	I34V	probably benign	Het
Dcstamp	A	G	15: 39,754,629		probably null	Het
Ddx5	T	C	11: 106,783,979		probably null	Het
Dnah2	A	T	11: 69,515,700	L572Q	probably damaging	Het
Espl1	G	A	15: 102,304,039	A527T	probably benign	Het
Fam83d	A	G	2: 158,785,174	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,530,586	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,533,405		probably benign	Het
Galnt17	G	T	5: 131,111,742	T179K	probably damaging	Het
Gm6768	A	C	12: 119,261,471		noncoding transcript	Het
Gm6899	C	T	11: 26,593,685		probably benign	Het
Helz2	T	A	2: 181,231,128	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,814,723		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,694,583	I195T	probably benign	Het
Isyna1	C	A	8: 70,595,201	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,078,008	F75S	probably benign	Het
Ly96	A	G	1: 16,700,894	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,878,269	T243A	probably damaging	Het
Mcc	A	G	18: 44,759,403	V48A	probably benign	Het
Mcpt2	C	T	14: 56,043,945		probably benign	Het
Med24	T	C	11: 98,717,757		probably benign	Het
Mtbp	G	A	15: 55,564,671	G162S	probably null	Het
Mtfr2	G	A	10: 20,352,852	C48Y	probably benign	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Naip2	AGGG	AGG	13: 100,162,037		probably null	Het
Nup107	A	C	10: 117,777,146	Y292*	probably null	Het
Nxpe4	A	C	9: 48,393,392	N260H	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1084	A	T	2: 86,639,463	L82M	probably damaging	Het
Olfr5	T	C	7: 6,480,542	I205V	probably benign	Het
Olfr901	T	C	9: 38,431,101	V273A	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,157	S142P	probably damaging	Het
P2rx7	T	C	5: 122,670,451	Y299H	probably damaging	Het
Per3	T	A	4: 151,026,138	E401V	probably damaging	Het
Rbm34	C	A	8: 126,965,447	E182*	probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Senp2	T	C	16: 22,011,504	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,164,231		probably null	Het
Spred1	A	T	2: 117,177,697	R361S	possibly damaging	Het
Spry2	A	G	14: 105,892,907	C282R	probably damaging	Het
Srp54b	T	C	12: 55,255,528		probably benign	Het
Taar8c	G	C	10: 24,101,565	Y116*	probably null	Het
Tchh	C	G	3: 93,448,046	R1598G	unknown	Het
Tex15	A	G	8: 33,571,633	M364V	probably benign	Het
Ttbk1	T	C	17: 46,467,131	R662G	probably damaging	Het
Ttc5	G	A	14: 50,767,226	Q374*	probably null	Het
Usp46	C	T	5: 74,002,122	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,835,626	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,893,892	R122*	probably null	Het
Vmn2r6	T	A	3: 64,565,067	M78L	probably benign	Het
Zfp407	A	T	18: 84,209,448	I2012N	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het
Zfyve26	G	A	12: 79,263,949	L161F	probably damaging	Het

Other mutations in Nwd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Nwd2	APN	5	63805475	missense	probably benign
IGL01111:Nwd2	APN	5	63807300	missense	probably damaging	1.00
IGL01152:Nwd2	APN	5	63806529	missense	possibly damaging	0.74
IGL01307:Nwd2	APN	5	63808283	missense	possibly damaging	0.95
IGL01449:Nwd2	APN	5	63805594	missense	probably damaging	1.00
IGL01624:Nwd2	APN	5	63806810	missense	probably damaging	1.00
IGL01997:Nwd2	APN	5	63804595	missense	probably damaging	0.99
IGL02007:Nwd2	APN	5	63804699	missense	possibly damaging	0.87
IGL02143:Nwd2	APN	5	63791653	splice site	probably null
IGL02184:Nwd2	APN	5	63805677	missense	probably damaging	1.00
IGL02379:Nwd2	APN	5	63805301	missense	probably damaging	1.00
IGL02489:Nwd2	APN	5	63805227	missense	probably damaging	1.00
IGL02580:Nwd2	APN	5	63808169	missense	probably damaging	0.99
IGL02682:Nwd2	APN	5	63804677	missense	probably benign	0.03
IGL02682:Nwd2	APN	5	63804678	missense	probably damaging	1.00
IGL02891:Nwd2	APN	5	63725227	missense	possibly damaging	0.91
IGL03135:Nwd2	APN	5	63805995	missense	probably damaging	1.00
IGL03149:Nwd2	APN	5	63805995	missense	probably damaging	1.00
R0113:Nwd2	UTSW	5	63807898	missense	probably damaging	1.00
R0172:Nwd2	UTSW	5	63806369	missense	probably benign	0.44
R0196:Nwd2	UTSW	5	63806351	missense	probably benign	0.37
R0239:Nwd2	UTSW	5	63800124	missense	probably benign	0.01
R0239:Nwd2	UTSW	5	63800124	missense	probably benign	0.01
R0309:Nwd2	UTSW	5	63807218	missense	probably damaging	1.00
R0311:Nwd2	UTSW	5	63804998	missense	probably damaging	0.99
R0335:Nwd2	UTSW	5	63804773	missense	probably benign	0.00
R0384:Nwd2	UTSW	5	63805682	missense	probably benign	0.11
R0496:Nwd2	UTSW	5	63806343	missense	probably damaging	0.99
R0497:Nwd2	UTSW	5	63806343	missense	probably damaging	0.99
R0498:Nwd2	UTSW	5	63806343	missense	probably damaging	0.99
R0505:Nwd2	UTSW	5	63805111	missense	probably damaging	1.00
R0655:Nwd2	UTSW	5	63791585	missense	possibly damaging	0.73
R0762:Nwd2	UTSW	5	63800414	missense	probably benign	0.33
R0835:Nwd2	UTSW	5	63800130	missense	probably damaging	0.99
R0926:Nwd2	UTSW	5	63807891	missense	probably damaging	0.99
R0948:Nwd2	UTSW	5	63807312	missense	probably damaging	1.00
R1015:Nwd2	UTSW	5	63806811	missense	probably damaging	1.00
R1086:Nwd2	UTSW	5	63806574	missense	probably damaging	1.00
R1305:Nwd2	UTSW	5	63745197	missense	probably damaging	0.97
R1542:Nwd2	UTSW	5	63806975	missense	probably damaging	1.00
R1548:Nwd2	UTSW	5	63800182	missense	probably benign	0.00
R1553:Nwd2	UTSW	5	63800505	missense	probably benign	0.00
R1636:Nwd2	UTSW	5	63807557	missense	probably damaging	1.00
R1658:Nwd2	UTSW	5	63807246	missense	probably damaging	1.00
R1763:Nwd2	UTSW	5	63808271	missense	probably benign
R1800:Nwd2	UTSW	5	63805574	missense	probably benign	0.15
R1813:Nwd2	UTSW	5	63805410	missense	probably benign	0.00
R1861:Nwd2	UTSW	5	63804854	missense	probably damaging	0.96
R1889:Nwd2	UTSW	5	63807666	missense	possibly damaging	0.49
R1896:Nwd2	UTSW	5	63805410	missense	probably benign	0.00
R1919:Nwd2	UTSW	5	63806180	missense	probably damaging	1.00
R1922:Nwd2	UTSW	5	63794242	missense	probably benign
R2258:Nwd2	UTSW	5	63805156	missense	probably benign	0.00
R2292:Nwd2	UTSW	5	63805574	missense	probably benign	0.15
R2504:Nwd2	UTSW	5	63804374	missense	probably benign	0.02
R2869:Nwd2	UTSW	5	63800328	missense	probably benign	0.00
R2869:Nwd2	UTSW	5	63800328	missense	probably benign	0.00
R2958:Nwd2	UTSW	5	63805982	missense	probably benign	0.01
R3034:Nwd2	UTSW	5	63800103	missense	probably damaging	1.00
R3422:Nwd2	UTSW	5	63725193	missense	possibly damaging	0.46
R3423:Nwd2	UTSW	5	63800161	missense	probably damaging	1.00
R3439:Nwd2	UTSW	5	63804552	missense	probably benign	0.00
R4193:Nwd2	UTSW	5	63807465	missense	probably damaging	1.00
R4254:Nwd2	UTSW	5	63806546	missense	possibly damaging	0.74
R4384:Nwd2	UTSW	5	63806571	missense	probably damaging	1.00
R4707:Nwd2	UTSW	5	63794322	missense	probably damaging	1.00
R4713:Nwd2	UTSW	5	63804460	missense	probably benign	0.00
R4735:Nwd2	UTSW	5	63808251	missense	probably benign	0.34
R4744:Nwd2	UTSW	5	63806967	missense	probably damaging	1.00
R4795:Nwd2	UTSW	5	63805433	missense	probably benign	0.21
R4835:Nwd2	UTSW	5	63807846	missense	probably benign	0.00
R4839:Nwd2	UTSW	5	63805550	missense	possibly damaging	0.92
R4896:Nwd2	UTSW	5	63804808	missense	probably damaging	1.00
R5017:Nwd2	UTSW	5	63650141	utr 5 prime	probably benign
R5170:Nwd2	UTSW	5	63806037	missense	probably damaging	0.99
R5312:Nwd2	UTSW	5	63806072	nonsense	probably null
R5330:Nwd2	UTSW	5	63806516	missense	probably benign	0.02
R5331:Nwd2	UTSW	5	63806516	missense	probably benign	0.02
R5419:Nwd2	UTSW	5	63807708	missense	probably benign	0.11
R5434:Nwd2	UTSW	5	63807648	missense	probably benign	0.00
R5445:Nwd2	UTSW	5	63805338	missense	probably damaging	1.00
R5761:Nwd2	UTSW	5	63725230	missense	probably damaging	1.00
R5788:Nwd2	UTSW	5	63807771	missense	probably benign	0.00
R5907:Nwd2	UTSW	5	63805983	missense	probably damaging	0.99
R5959:Nwd2	UTSW	5	63808070	missense	probably benign	0.32
R6002:Nwd2	UTSW	5	63804800	missense	probably benign
R6027:Nwd2	UTSW	5	63808220	missense	possibly damaging	0.65
R6082:Nwd2	UTSW	5	63805031	missense	possibly damaging	0.96
R6163:Nwd2	UTSW	5	63805788	missense	probably benign	0.00
R6172:Nwd2	UTSW	5	63806906	missense	probably damaging	0.98
R6334:Nwd2	UTSW	5	63800253	missense	possibly damaging	0.95
R6447:Nwd2	UTSW	5	63807555	missense	probably benign	0.41
R6649:Nwd2	UTSW	5	63725184	missense	possibly damaging	0.89
R6855:Nwd2	UTSW	5	63804451	missense	probably benign	0.00
R7034:Nwd2	UTSW	5	63804915	missense	probably damaging	1.00
R7168:Nwd2	UTSW	5	63807494	missense	probably benign	0.04
R7326:Nwd2	UTSW	5	63800409	missense	probably damaging	1.00
R7561:Nwd2	UTSW	5	63807091	nonsense	probably null
R7576:Nwd2	UTSW	5	63807393	missense	probably benign	0.00
R7580:Nwd2	UTSW	5	63808281	missense	probably benign	0.05
R7723:Nwd2	UTSW	5	63808004	missense	possibly damaging	0.69
R7769:Nwd2	UTSW	5	63804504	missense	probably damaging	0.99
RF020:Nwd2	UTSW	5	63805723	nonsense	probably null
X0023:Nwd2	UTSW	5	63806963	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTCTGAGAGTCCTGACCGACTCC -3'
(R):5'- GGAATGAAATTCCCACGCGCTTG -3'

Sequencing Primer
(F):5'- CCAGTAGGGACATGGCTACG -3'
(R):5'- GCCAAGGGACTTACCTTCAG -3'

Posted On

2014-01-15