Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Nwd2'

193187

Institutional Source

Beutler Lab

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R1763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63649102-63810546 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63808271 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1733 (S1733T)

Ref Sequence

ENSEMBL: ENSMUSP00000124712 (fasta)

Gene Model

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

AlphaFold

Q6P5U7

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: S1733T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061
AA Change: S1733T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 122,110,681	V794M	probably benign	Het
Abca4	A	T	3: 122,163,830	T772S	probably damaging	Het
Acox3	G	A	5: 35,608,339		probably null	Het
Adamts17	A	G	7: 67,147,715	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015	F321I	probably benign	Het
Atp5f1	A	G	3: 105,951,589		probably null	Het
Bloc1s5	A	G	13: 38,619,084		probably benign	Het
Btbd9	T	C	17: 30,334,297	N397S	possibly damaging	Het
Cacna1d	A	G	14: 30,099,196	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636	K686N	probably benign	Het
Ccnt2	T	C	1: 127,799,406	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,367,880		probably null	Het
Chrna7	A	G	7: 63,099,252	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031		probably null	Het
Dlk1	G	T	12: 109,458,119	C102F	probably damaging	Het
Dscc1	T	A	15: 55,084,139	H215L	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Dus1l	C	G	11: 120,795,671	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823	V268L	probably benign	Het
F2	A	C	2: 91,634,906	C104W	probably damaging	Het
F5	C	A	1: 164,192,535	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077		probably null	Het
Ifi27	C	T	12: 103,437,682	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481	N329S	probably damaging	Het
Ikbke	T	C	1: 131,265,877	T479A	probably benign	Het
Krt12	T	A	11: 99,416,060	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252	V128A	probably benign	Het
Map4k4	C	A	1: 40,000,757		probably benign	Het
Mtmr7	T	C	8: 40,551,811	T575A	probably benign	Het
Myh13	G	A	11: 67,334,576	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647	F127S	probably benign	Het
Olfr1189	A	G	2: 88,592,436	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605	R708*	probably null	Het
Sept9	T	C	11: 117,290,428	I18T	probably benign	Het
Serpinb6b	A	G	13: 32,978,058	E280G	probably damaging	Het
Slamf6	T	C	1: 171,942,587		probably benign	Het
Slc6a21	G	A	7: 45,287,734	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784	K458E	probably damaging	Het
Szt2	A	T	4: 118,372,368	W2820R	unknown	Het
Tmtc1	C	A	6: 148,294,618	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376	L388P	possibly 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
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
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
R8293:Nwd2	UTSW	5	63805320	missense	probably benign	0.05
R8517:Nwd2	UTSW	5	63791582	missense	probably damaging	1.00
R8782:Nwd2	UTSW	5	63725197	missense	probably damaging	1.00
R8792:Nwd2	UTSW	5	63805704	missense	probably damaging	0.97
R8888:Nwd2	UTSW	5	63805898	missense	probably damaging	1.00
R8895:Nwd2	UTSW	5	63805898	missense	probably damaging	1.00
R8901:Nwd2	UTSW	5	63806342	missense	probably damaging	1.00
R8913:Nwd2	UTSW	5	63806097	missense	possibly damaging	0.80
R8920:Nwd2	UTSW	5	63791520	missense	probably damaging	1.00
R9052:Nwd2	UTSW	5	63804430	missense	probably damaging	1.00
R9362:Nwd2	UTSW	5	63804404	missense	probably benign	0.23
R9368:Nwd2	UTSW	5	63804963	missense	probably damaging	0.99
R9377:Nwd2	UTSW	5	63800397	missense	probably damaging	1.00
R9430:Nwd2	UTSW	5	63807322	missense	probably damaging	1.00
R9655:Nwd2	UTSW	5	63807225	nonsense	probably null
R9661:Nwd2	UTSW	5	63800437	missense	probably damaging	0.97
R9736:Nwd2	UTSW	5	63794257	missense	probably damaging	1.00
R9793:Nwd2	UTSW	5	63806889	missense	probably damaging	1.00
R9795:Nwd2	UTSW	5	63806889	missense	probably damaging	1.00
RF020:Nwd2	UTSW	5	63805723	nonsense	probably null
X0023:Nwd2	UTSW	5	63806963	missense	probably damaging	0.99
Z1176:Nwd2	UTSW	5	63725197	missense	probably damaging	1.00
Z1176:Nwd2	UTSW	5	63806157	missense	probably damaging	1.00
Z1177:Nwd2	UTSW	5	63804984	missense	possibly damaging	0.60
Z1177:Nwd2	UTSW	5	63807326	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGCGTTGAAGATCAAAATTGCC -3'
(R):5'- ACGGTCCTCTGCAATCACGATTTC -3'

Sequencing Primer
(F):5'- GATTTTCAACAATGCAACGCAG -3'
(R):5'- GTCCAGAAGATGCACTTTGCTT -3'

Posted On

2014-05-23