Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01449:Nwd2'

84574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

63649102-63810546 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63805594 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 840 (H840Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124712 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159584
AA Change: H840Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061
AA Change: H840Q

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,444,849	L33F	probably benign	Het
Actr8	T	C	14: 29,990,970		probably null	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
BC051665	A	G	13: 60,782,704	V278A	probably damaging	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
D430042O09Rik	T	A	7: 125,870,685	V1442D	probably damaging	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fcho2	A	T	13: 98,789,807	D89E	probably benign	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Gm43638	A	T	5: 87,486,215	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Pprc1	C	T	19: 46,065,232		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tle4	A	G	19: 14,465,340	S339P	probably benign	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,463,305	T145A	probably benign	Het
Zfp697	T	C	3: 98,427,530	C204R	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
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
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
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

Posted On

2013-11-11