Mutagenetix > Incidental Mutation

Incidental Mutation 'R4254:Nwd2'

321735

Institutional Source

Beutler Lab

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

MMRRC Submission

041067-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63806446-63967889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63963889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1158 (V1158I)

Ref Sequence

ENSEMBL: ENSMUSP00000124712 (fasta)

Gene Model

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

AlphaFold

Q6P5U7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159584
AA Change: V1158I

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061
AA Change: V1158I

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

Meta Mutation Damage Score

0.1111

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	G	8: 95,732,530 (GRCm39)		probably null	Het
Adgrg2	T	G	X: 159,265,404 (GRCm39)	S551R	possibly damaging	Het
Anapc2	T	C	2: 25,163,357 (GRCm39)	V198A	probably benign	Het
Asxl3	T	C	18: 22,657,423 (GRCm39)	I1811T	possibly damaging	Het
Atp5mc3	A	C	2: 73,740,319 (GRCm39)		probably benign	Het
Ccdc27	A	C	4: 154,123,976 (GRCm39)	S186A	unknown	Het
Ccdc28a	A	G	10: 18,100,683 (GRCm39)	L48P	probably damaging	Het
Cdh19	C	T	1: 110,852,760 (GRCm39)	A392T	probably damaging	Het
Cfap65	T	C	1: 74,942,517 (GRCm39)	D1679G	probably benign	Het
Copa	C	T	1: 171,929,811 (GRCm39)	R293C	probably damaging	Het
Depdc1a	A	G	3: 159,204,124 (GRCm39)	R58G	probably damaging	Het
Dnah5	T	A	15: 28,438,248 (GRCm39)	S3960T	probably benign	Het
Dsg4	A	T	18: 20,604,595 (GRCm39)	T1021S	probably benign	Het
Hrh1	T	A	6: 114,456,962 (GRCm39)	M81K	probably damaging	Het
Ipo11	G	A	13: 107,029,017 (GRCm39)	T312I	probably benign	Het
Itgb2l	T	C	16: 96,231,777 (GRCm39)	N330D	probably benign	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kcnb1	A	G	2: 166,947,651 (GRCm39)	I399T	probably damaging	Het
Muc13	G	A	16: 33,636,221 (GRCm39)	M568I	probably benign	Het
Nlrp1a	A	C	11: 71,013,854 (GRCm39)	Y465*	probably null	Het
Or2h1b	A	G	17: 37,462,530 (GRCm39)	I111T	possibly damaging	Het
Or5d14	C	T	2: 87,880,123 (GRCm39)	V282I	possibly damaging	Het
Or8b101	T	A	9: 38,020,546 (GRCm39)	L183H	probably damaging	Het
Ptprr	T	A	10: 115,998,348 (GRCm39)		probably null	Het
Rasd2	G	A	8: 75,948,538 (GRCm39)	E155K	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serinc3	T	A	2: 163,478,888 (GRCm39)	M80L	probably benign	Het
Sf1	T	C	19: 6,421,677 (GRCm39)	V140A	probably damaging	Het
Slc15a2	A	T	16: 36,574,852 (GRCm39)	V519E	probably benign	Het
Slc16a10	A	G	10: 39,952,997 (GRCm39)	Y166H	probably damaging	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Smim29	A	T	17: 27,784,696 (GRCm39)		probably null	Het
Tmbim1	C	A	1: 74,333,090 (GRCm39)	V92F	probably damaging	Het
Vsig4	C	A	X: 95,334,107 (GRCm39)	R134L	probably benign	Het

Other mutations in Nwd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Nwd2	APN	5	63,962,818 (GRCm39)	missense	probably benign
IGL01111:Nwd2	APN	5	63,964,643 (GRCm39)	missense	probably damaging	1.00
IGL01152:Nwd2	APN	5	63,963,872 (GRCm39)	missense	possibly damaging	0.74
IGL01307:Nwd2	APN	5	63,965,626 (GRCm39)	missense	possibly damaging	0.95
IGL01449:Nwd2	APN	5	63,962,937 (GRCm39)	missense	probably damaging	1.00
IGL01624:Nwd2	APN	5	63,964,153 (GRCm39)	missense	probably damaging	1.00
IGL01997:Nwd2	APN	5	63,961,938 (GRCm39)	missense	probably damaging	0.99
IGL02007:Nwd2	APN	5	63,962,042 (GRCm39)	missense	possibly damaging	0.87
IGL02143:Nwd2	APN	5	63,948,996 (GRCm39)	splice site	probably null
IGL02184:Nwd2	APN	5	63,963,020 (GRCm39)	missense	probably damaging	1.00
IGL02379:Nwd2	APN	5	63,962,644 (GRCm39)	missense	probably damaging	1.00
IGL02489:Nwd2	APN	5	63,962,570 (GRCm39)	missense	probably damaging	1.00
IGL02580:Nwd2	APN	5	63,965,512 (GRCm39)	missense	probably damaging	0.99
IGL02682:Nwd2	APN	5	63,962,021 (GRCm39)	missense	probably damaging	1.00
IGL02682:Nwd2	APN	5	63,962,020 (GRCm39)	missense	probably benign	0.03
IGL02891:Nwd2	APN	5	63,882,570 (GRCm39)	missense	possibly damaging	0.91
IGL03135:Nwd2	APN	5	63,963,338 (GRCm39)	missense	probably damaging	1.00
IGL03149:Nwd2	APN	5	63,963,338 (GRCm39)	missense	probably damaging	1.00
R0113:Nwd2	UTSW	5	63,965,241 (GRCm39)	missense	probably damaging	1.00
R0172:Nwd2	UTSW	5	63,963,712 (GRCm39)	missense	probably benign	0.44
R0196:Nwd2	UTSW	5	63,963,694 (GRCm39)	missense	probably benign	0.37
R0239:Nwd2	UTSW	5	63,957,467 (GRCm39)	missense	probably benign	0.01
R0239:Nwd2	UTSW	5	63,957,467 (GRCm39)	missense	probably benign	0.01
R0309:Nwd2	UTSW	5	63,964,561 (GRCm39)	missense	probably damaging	1.00
R0311:Nwd2	UTSW	5	63,962,341 (GRCm39)	missense	probably damaging	0.99
R0335:Nwd2	UTSW	5	63,962,116 (GRCm39)	missense	probably benign	0.00
R0384:Nwd2	UTSW	5	63,963,025 (GRCm39)	missense	probably benign	0.11
R0496:Nwd2	UTSW	5	63,963,686 (GRCm39)	missense	probably damaging	0.99
R0497:Nwd2	UTSW	5	63,963,686 (GRCm39)	missense	probably damaging	0.99
R0498:Nwd2	UTSW	5	63,963,686 (GRCm39)	missense	probably damaging	0.99
R0505:Nwd2	UTSW	5	63,962,454 (GRCm39)	missense	probably damaging	1.00
R0655:Nwd2	UTSW	5	63,948,928 (GRCm39)	missense	possibly damaging	0.73
R0762:Nwd2	UTSW	5	63,957,757 (GRCm39)	missense	probably benign	0.33
R0835:Nwd2	UTSW	5	63,957,473 (GRCm39)	missense	probably damaging	0.99
R0926:Nwd2	UTSW	5	63,965,234 (GRCm39)	missense	probably damaging	0.99
R0948:Nwd2	UTSW	5	63,964,655 (GRCm39)	missense	probably damaging	1.00
R1015:Nwd2	UTSW	5	63,964,154 (GRCm39)	missense	probably damaging	1.00
R1086:Nwd2	UTSW	5	63,963,917 (GRCm39)	missense	probably damaging	1.00
R1186:Nwd2	UTSW	5	63,807,367 (GRCm39)	utr 5 prime	probably benign
R1305:Nwd2	UTSW	5	63,902,540 (GRCm39)	missense	probably damaging	0.97
R1542:Nwd2	UTSW	5	63,964,318 (GRCm39)	missense	probably damaging	1.00
R1548:Nwd2	UTSW	5	63,957,525 (GRCm39)	missense	probably benign	0.00
R1553:Nwd2	UTSW	5	63,957,848 (GRCm39)	missense	probably benign	0.00
R1636:Nwd2	UTSW	5	63,964,900 (GRCm39)	missense	probably damaging	1.00
R1658:Nwd2	UTSW	5	63,964,589 (GRCm39)	missense	probably damaging	1.00
R1763:Nwd2	UTSW	5	63,965,614 (GRCm39)	missense	probably benign
R1800:Nwd2	UTSW	5	63,962,917 (GRCm39)	missense	probably benign	0.15
R1813:Nwd2	UTSW	5	63,962,753 (GRCm39)	missense	probably benign	0.00
R1861:Nwd2	UTSW	5	63,962,197 (GRCm39)	missense	probably damaging	0.96
R1889:Nwd2	UTSW	5	63,965,009 (GRCm39)	missense	possibly damaging	0.49
R1896:Nwd2	UTSW	5	63,962,753 (GRCm39)	missense	probably benign	0.00
R1919:Nwd2	UTSW	5	63,963,523 (GRCm39)	missense	probably damaging	1.00
R1922:Nwd2	UTSW	5	63,951,585 (GRCm39)	missense	probably benign
R2258:Nwd2	UTSW	5	63,962,499 (GRCm39)	missense	probably benign	0.00
R2292:Nwd2	UTSW	5	63,962,917 (GRCm39)	missense	probably benign	0.15
R2504:Nwd2	UTSW	5	63,961,717 (GRCm39)	missense	probably benign	0.02
R2869:Nwd2	UTSW	5	63,957,671 (GRCm39)	missense	probably benign	0.00
R2869:Nwd2	UTSW	5	63,957,671 (GRCm39)	missense	probably benign	0.00
R2958:Nwd2	UTSW	5	63,963,325 (GRCm39)	missense	probably benign	0.01
R3034:Nwd2	UTSW	5	63,957,446 (GRCm39)	missense	probably damaging	1.00
R3422:Nwd2	UTSW	5	63,882,536 (GRCm39)	missense	possibly damaging	0.46
R3423:Nwd2	UTSW	5	63,957,504 (GRCm39)	missense	probably damaging	1.00
R3439:Nwd2	UTSW	5	63,961,895 (GRCm39)	missense	probably benign	0.00
R4193:Nwd2	UTSW	5	63,964,808 (GRCm39)	missense	probably damaging	1.00
R4384:Nwd2	UTSW	5	63,963,914 (GRCm39)	missense	probably damaging	1.00
R4707:Nwd2	UTSW	5	63,951,665 (GRCm39)	missense	probably damaging	1.00
R4713:Nwd2	UTSW	5	63,961,803 (GRCm39)	missense	probably benign	0.00
R4735:Nwd2	UTSW	5	63,965,594 (GRCm39)	missense	probably benign	0.34
R4744:Nwd2	UTSW	5	63,964,310 (GRCm39)	missense	probably damaging	1.00
R4795:Nwd2	UTSW	5	63,962,776 (GRCm39)	missense	probably benign	0.21
R4835:Nwd2	UTSW	5	63,965,189 (GRCm39)	missense	probably benign	0.00
R4839:Nwd2	UTSW	5	63,962,893 (GRCm39)	missense	possibly damaging	0.92
R4896:Nwd2	UTSW	5	63,962,151 (GRCm39)	missense	probably damaging	1.00
R5017:Nwd2	UTSW	5	63,807,484 (GRCm39)	utr 5 prime	probably benign
R5170:Nwd2	UTSW	5	63,963,380 (GRCm39)	missense	probably damaging	0.99
R5312:Nwd2	UTSW	5	63,963,415 (GRCm39)	nonsense	probably null
R5330:Nwd2	UTSW	5	63,963,859 (GRCm39)	missense	probably benign	0.02
R5331:Nwd2	UTSW	5	63,963,859 (GRCm39)	missense	probably benign	0.02
R5419:Nwd2	UTSW	5	63,965,051 (GRCm39)	missense	probably benign	0.11
R5434:Nwd2	UTSW	5	63,964,991 (GRCm39)	missense	probably benign	0.00
R5445:Nwd2	UTSW	5	63,962,681 (GRCm39)	missense	probably damaging	1.00
R5761:Nwd2	UTSW	5	63,882,573 (GRCm39)	missense	probably damaging	1.00
R5788:Nwd2	UTSW	5	63,965,114 (GRCm39)	missense	probably benign	0.00
R5907:Nwd2	UTSW	5	63,963,326 (GRCm39)	missense	probably damaging	0.99
R5959:Nwd2	UTSW	5	63,965,413 (GRCm39)	missense	probably benign	0.32
R6002:Nwd2	UTSW	5	63,962,143 (GRCm39)	missense	probably benign
R6027:Nwd2	UTSW	5	63,965,563 (GRCm39)	missense	possibly damaging	0.65
R6082:Nwd2	UTSW	5	63,962,374 (GRCm39)	missense	possibly damaging	0.96
R6163:Nwd2	UTSW	5	63,963,131 (GRCm39)	missense	probably benign	0.00
R6172:Nwd2	UTSW	5	63,964,249 (GRCm39)	missense	probably damaging	0.98
R6334:Nwd2	UTSW	5	63,957,596 (GRCm39)	missense	possibly damaging	0.95
R6447:Nwd2	UTSW	5	63,964,898 (GRCm39)	missense	probably benign	0.41
R6649:Nwd2	UTSW	5	63,882,527 (GRCm39)	missense	possibly damaging	0.89
R6855:Nwd2	UTSW	5	63,961,794 (GRCm39)	missense	probably benign	0.00
R7034:Nwd2	UTSW	5	63,962,258 (GRCm39)	missense	probably damaging	1.00
R7168:Nwd2	UTSW	5	63,964,837 (GRCm39)	missense	probably benign	0.04
R7326:Nwd2	UTSW	5	63,957,752 (GRCm39)	missense	probably damaging	1.00
R7561:Nwd2	UTSW	5	63,964,434 (GRCm39)	nonsense	probably null
R7576:Nwd2	UTSW	5	63,964,736 (GRCm39)	missense	probably benign	0.00
R7580:Nwd2	UTSW	5	63,965,624 (GRCm39)	missense	probably benign	0.05
R7723:Nwd2	UTSW	5	63,965,347 (GRCm39)	missense	possibly damaging	0.69
R7769:Nwd2	UTSW	5	63,961,847 (GRCm39)	missense	probably damaging	0.99
R8293:Nwd2	UTSW	5	63,962,663 (GRCm39)	missense	probably benign	0.05
R8517:Nwd2	UTSW	5	63,948,925 (GRCm39)	missense	probably damaging	1.00
R8782:Nwd2	UTSW	5	63,882,540 (GRCm39)	missense	probably damaging	1.00
R8792:Nwd2	UTSW	5	63,963,047 (GRCm39)	missense	probably damaging	0.97
R8888:Nwd2	UTSW	5	63,963,241 (GRCm39)	missense	probably damaging	1.00
R8895:Nwd2	UTSW	5	63,963,241 (GRCm39)	missense	probably damaging	1.00
R8901:Nwd2	UTSW	5	63,963,685 (GRCm39)	missense	probably damaging	1.00
R8913:Nwd2	UTSW	5	63,963,440 (GRCm39)	missense	possibly damaging	0.80
R8920:Nwd2	UTSW	5	63,948,863 (GRCm39)	missense	probably damaging	1.00
R9052:Nwd2	UTSW	5	63,961,773 (GRCm39)	missense	probably damaging	1.00
R9362:Nwd2	UTSW	5	63,961,747 (GRCm39)	missense	probably benign	0.23
R9368:Nwd2	UTSW	5	63,962,306 (GRCm39)	missense	probably damaging	0.99
R9377:Nwd2	UTSW	5	63,957,740 (GRCm39)	missense	probably damaging	1.00
R9430:Nwd2	UTSW	5	63,964,665 (GRCm39)	missense	probably damaging	1.00
R9655:Nwd2	UTSW	5	63,964,568 (GRCm39)	nonsense	probably null
R9661:Nwd2	UTSW	5	63,957,780 (GRCm39)	missense	probably damaging	0.97
R9736:Nwd2	UTSW	5	63,951,600 (GRCm39)	missense	probably damaging	1.00
R9793:Nwd2	UTSW	5	63,964,232 (GRCm39)	missense	probably damaging	1.00
R9795:Nwd2	UTSW	5	63,964,232 (GRCm39)	missense	probably damaging	1.00
RF020:Nwd2	UTSW	5	63,963,066 (GRCm39)	nonsense	probably null
X0023:Nwd2	UTSW	5	63,964,306 (GRCm39)	missense	probably damaging	0.99
Z1176:Nwd2	UTSW	5	63,963,500 (GRCm39)	missense	probably damaging	1.00
Z1176:Nwd2	UTSW	5	63,882,540 (GRCm39)	missense	probably damaging	1.00
Z1177:Nwd2	UTSW	5	63,964,669 (GRCm39)	nonsense	probably null
Z1177:Nwd2	UTSW	5	63,962,327 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- TGACATGTGTCCAGTGCTCC -3'
(R):5'- CAAAGCGTTCGTTGTGCCTG -3'

Sequencing Primer
(F):5'- TGTCCAGTGCTCCCTGGATG -3'
(R):5'- TTCCACATGCCGGTGTCTAAGAG -3'

Posted On

2015-06-20