Mutagenetix > Incidental Mutations

Incidental Mutation 'R5419:Nwd2'

427915

Institutional Source

Beutler Lab

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

MMRRC Submission

042987-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R5419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63649102-63810546 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63807708 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1545 (D1545G)

Ref Sequence

ENSEMBL: ENSMUSP00000124712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081747] [ENSMUST00000159584] [ENSMUST00000196575]

Predicted Effect

probably benign
Transcript: ENSMUST00000081747

SMART Domains

Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512

Domain	Start	End	E-Value	Type
Pfam:DUF4699	9	313	2.5e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159584
AA Change: D1545G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061
AA Change: D1545G

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

probably benign
Transcript: ENSMUST00000162757

Predicted Effect

probably benign
Transcript: ENSMUST00000196575

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,272,090	L926*	probably null	Het
4931429L15Rik	C	T	9: 46,309,326		probably null	Het
Abca13	T	A	11: 9,193,533		probably null	Het
AI481877	A	T	4: 59,049,017	M1116K	probably benign	Het
Akap13	A	T	7: 75,610,243	T69S	probably benign	Het
Arl1	T	A	10: 88,737,104	C80S	probably damaging	Het
Brsk1	A	G	7: 4,709,004	T618A	possibly damaging	Het
Cep295	T	C	9: 15,324,237	H1982R	probably damaging	Het
Ces5a	A	T	8: 93,499,431	S559T	unknown	Het
Clcf1	A	G	19: 4,222,159	N90S	possibly damaging	Het
Clec16a	G	A	16: 10,731,679	C872Y	probably damaging	Het
Cobll1	A	T	2: 65,103,357	D430E	possibly damaging	Het
Cyp1a2	T	A	9: 57,682,511	I7F	probably benign	Het
Cyp2b23	G	A	7: 26,681,423	R126*	probably null	Het
Daam2	A	G	17: 49,480,754	W444R	possibly damaging	Het
Dcbld2	T	A	16: 58,455,258	C446S	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Eif2d	T	C	1: 131,158,298	*177R	probably null	Het
Fkbp15	G	A	4: 62,327,877	A438V	probably damaging	Het
Gjb5	G	A	4: 127,355,859	A164V	probably benign	Het
Gm17727	T	A	9: 35,778,111		probably null	Het
Gm5724	C	T	6: 141,736,100		probably null	Het
Grin1	A	T	2: 25,298,273		probably null	Het
Grm3	A	G	5: 9,570,233	F337S	probably damaging	Het
Hey2	T	A	10: 30,834,023	T245S	probably benign	Het
Ifi206	T	C	1: 173,481,231	T400A	probably benign	Het
Itga7	G	A	10: 128,944,033	E480K	probably null	Het
Itpr1	T	C	6: 108,493,794	Y2227H	possibly damaging	Het
Krt8	T	C	15: 102,003,902	D113G	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lins1	A	G	7: 66,708,095		probably benign	Het
Lmf1	A	T	17: 25,662,636	D553V	possibly damaging	Het
Lnpep	A	G	17: 17,566,730	S536P	probably damaging	Het
Lrp1b	A	T	2: 40,730,704	C3587*	probably null	Het
Macf1	A	T	4: 123,397,124	D3435E	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Myg1	A	T	15: 102,336,962	N206I	probably damaging	Het
Myl12a	T	G	17: 70,994,699	R144S	probably benign	Het
Myo5a	T	A	9: 75,147,897	I454K	probably damaging	Het
Ogdhl	T	G	14: 32,339,224	D457E	probably damaging	Het
Olfr202	T	A	16: 59,284,341	D52V	probably damaging	Het
Olfr466	A	C	13: 65,152,774	L183F	probably damaging	Het
Paf1	A	G	7: 28,395,670	I112V	possibly damaging	Het
Pcdhga4	C	T	18: 37,686,745	P449L	probably damaging	Het
Pla2g6	A	T	15: 79,299,142	I495N	possibly damaging	Het
Ptgs1	A	G	2: 36,237,222	Y40C	probably damaging	Het
Ptprn2	A	T	12: 117,184,647	I676F	probably damaging	Het
Rev3l	T	C	10: 39,824,931	L1808P	possibly damaging	Het
Sall2	A	G	14: 52,313,129	S868P	probably damaging	Het
Slc47a2	A	G	11: 61,307,586	F428L	probably benign	Het
Slco3a1	A	T	7: 74,284,615	F603Y	possibly damaging	Het
Smyd2	A	T	1: 189,909,893	C65*	probably null	Het
Ssu72	T	C	4: 155,715,550	F57L	probably damaging	Het
Tanc2	A	G	11: 105,922,883	T1718A	probably benign	Het
Tnks	G	C	8: 34,965,566	P34A	unknown	Het
Top3a	G	A	11: 60,762,522	T42I	probably damaging	Het
Trank1	T	C	9: 111,391,301	S2369P	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubqln1	T	C	13: 58,183,183	Q410R	probably damaging	Het
Vmn2r11	A	G	5: 109,059,358	I32T	possibly damaging	Het
Xcr1	A	G	9: 123,856,310	F129S	probably benign	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
R1186:Nwd2	UTSW	5	63650024	utr 5 prime	probably benign
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
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'- CAAGTTGATCCCCGACTGTC -3'
(R):5'- TTTTGTATAGGGAGCAAGCACC -3'

Sequencing Primer
(F):5'- GACTGTCCTGACGTCATCG -3'
(R):5'- AGCAAGCACCGATGTTTTTGC -3'

Posted On

2016-09-01