Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Nwd2'

37189

Institutional Source

Beutler Lab

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

MMRRC Submission

038477-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R0239 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

63649102-63810546 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63800124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 266 (I266F)

Ref Sequence

ENSEMBL: ENSMUSP00000124712 (fasta)

Gene Model

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

AlphaFold

Q6P5U7

Predicted Effect

probably benign
Transcript: ENSMUST00000159584
AA Change: I266F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061
AA Change: I266F

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: ENSMUST00000162166

Predicted Effect

probably benign
Transcript: ENSMUST00000162757

Meta Mutation Damage Score

0.1200

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

Validation Efficiency

100% (3/3)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 138,065,834		probably benign	Het
Adra1d	C	A	2: 131,546,214	V474F	probably benign	Het
Alg8	A	T	7: 97,383,684		probably null	Het
Ash1l	A	G	3: 89,067,222	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,294,675		probably null	Het
Cacna1d	A	G	14: 30,123,496	V572A	probably benign	Het
Camta1	A	G	4: 151,143,730	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,407	W771R	probably damaging	Het
Cdx2	G	T	5: 147,303,287	T193K	probably damaging	Het
Cfap70	A	C	14: 20,448,605	S5A	probably benign	Het
Chmp7	A	G	14: 69,720,997	V241A	probably damaging	Het
D3Ertd751e	A	G	3: 41,753,878	Y150C	probably damaging	Het
Depdc5	T	C	5: 32,943,240	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,721,531	S4673G	probably benign	Het
Dock4	G	T	12: 40,737,540	S818I	probably damaging	Het
Dysf	C	T	6: 84,064,479	Q156*	probably null	Het
Espnl	T	C	1: 91,322,287	V52A	probably damaging	Het
Flcn	T	C	11: 59,801,076	N249S	probably benign	Het
Gemin6	C	A	17: 80,225,710	A24D	probably damaging	Het
Gm5773	A	G	3: 93,774,032	H337R	probably benign	Het
Gm9733	A	G	3: 15,296,601	L163P	probably damaging	Het
Hal	T	C	10: 93,503,482	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,769,318	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,344	L72Q	probably damaging	Het
Ift140	C	A	17: 25,045,523	C557*	probably null	Het
Ikbkap	C	A	4: 56,784,596	V466L	probably benign	Het
Kbtbd3	G	T	9: 4,330,144	V173L	possibly damaging	Het
Kif14	A	G	1: 136,527,393	E1551G	probably damaging	Het
Krt17	G	A	11: 100,260,878	R30*	probably null	Het
Lamb3	A	T	1: 193,321,053	D100V	probably damaging	Het
Map2	A	G	1: 66,416,106	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,826,525	V195I	probably damaging	Het
Myh8	A	G	11: 67,301,692	T1466A	probably benign	Het
Myo3b	T	A	2: 70,105,425	C61S	probably benign	Het
Nacc2	T	G	2: 26,062,261	N361T	probably damaging	Het
Nf1	A	T	11: 79,418,574	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,150,441	V309A	possibly damaging	Het
Nomo1	T	C	7: 46,079,594		probably null	Het
Nubp2	T	C	17: 24,884,471	E144G	probably damaging	Het
Olfr1126	T	C	2: 87,458,037	F291L	probably benign	Het
Olfr593	G	A	7: 103,212,726	V289M	possibly damaging	Het
Olfr694	A	G	7: 106,689,255	Y159H	probably benign	Het
Orc1	T	C	4: 108,595,646		probably null	Het
Otogl	T	A	10: 107,806,696	N1291I	probably damaging	Het
Pah	C	T	10: 87,567,281	P173S	possibly damaging	Het
Pga5	A	G	19: 10,669,453	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,532,358	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,968,793	D906E	probably benign	Het
Ppfia4	T	C	1: 134,329,189	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,343,283		probably null	Het
Raet1e	C	A	10: 22,180,862	H112Q	possibly damaging	Het
Scai	T	A	2: 39,075,042	I597F	probably benign	Het
Slc35c2	C	T	2: 165,280,837	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,304,256	I347N	possibly damaging	Het
Slc52a3	T	C	2: 152,008,156	*461Q	probably null	Het
Slc6a1	G	A	6: 114,302,800	V142I	probably benign	Het
Tbc1d31	C	A	15: 57,940,753	T388N	probably benign	Het
Tmem63c	T	C	12: 87,075,639	W404R	probably damaging	Het
Tmem79	A	G	3: 88,333,321	S107P	probably benign	Het
Trip11	C	T	12: 101,884,728	E741K	probably damaging	Het
Trpm5	G	T	7: 143,082,958	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 105,844,488	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,163,007	S78P	probably damaging	Het
Vac14	A	T	8: 110,635,375		probably null	Het
Vps51	G	T	19: 6,071,437	S185*	probably null	Het
Zfp11	C	T	5: 129,658,238	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,682,985	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,249,759	C370Y	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
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
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'- TGACTCCACAGGCTGCATCTCTAC -3'
(R):5'- TGGGAATAGCCCAGTTTCATGTCAC -3'

Sequencing Primer
(F):5'- GGTCCCTCAAAGTAACTAAGAGCTG -3'
(R):5'- CCAGTTTCATGTCACAGTGAGTG -3'

Posted On

2013-05-09