Mutagenetix > Incidental Mutation

Incidental Mutation 'R1636:Nwd2'

173152

Institutional Source

Beutler Lab

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

MMRRC Submission

039672-MU

Accession Numbers

Essential gene?

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

Stock #

R1636 (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 63964900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1495 (V1495M)

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 damaging
Transcript: ENSMUST00000159584
AA Change: V1495M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061
AA Change: V1495M

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

0.1039

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

96% (85/89)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Abca7	A	G	10: 79,844,832 (GRCm39)	H1518R	probably benign	Het
Adam4	A	G	12: 81,466,464 (GRCm39)	L719S	probably damaging	Het
Adprm	T	C	11: 66,932,549 (GRCm39)	Y120C	possibly damaging	Het
Arhgap25	T	A	6: 87,472,923 (GRCm39)	Y78F	probably damaging	Het
Asap1	G	A	15: 63,995,761 (GRCm39)	P665L	probably damaging	Het
Bank1	T	C	3: 135,788,987 (GRCm39)	K637R	probably damaging	Het
Bcr	T	A	10: 74,966,898 (GRCm39)	L502M	probably damaging	Het
Brwd1	A	G	16: 95,860,841 (GRCm39)	L315P	probably damaging	Het
Btbd7	A	T	12: 102,760,110 (GRCm39)	Y613N	probably damaging	Het
Cdca7l	G	A	12: 117,840,663 (GRCm39)	R395H	probably damaging	Het
Cftr	T	A	6: 18,226,156 (GRCm39)	I368K	probably damaging	Het
D6Wsu163e	T	C	6: 126,923,564 (GRCm39)	V150A	possibly damaging	Het
Ddx52	A	G	11: 83,846,169 (GRCm39)	T470A	probably damaging	Het
Def6	A	G	17: 28,442,892 (GRCm39)	E316G	possibly damaging	Het
Dip2a	A	T	10: 76,157,412 (GRCm39)	N64K	probably benign	Het
Dlgap4	G	T	2: 156,587,997 (GRCm39)	E631*	probably null	Het
Dner	T	C	1: 84,563,051 (GRCm39)	K190E	possibly damaging	Het
Eif2b4	T	A	5: 31,349,610 (GRCm39)		probably null	Het
Eif3a	A	T	19: 60,770,343 (GRCm39)	D119E	possibly damaging	Het
Ercc2	C	T	7: 19,121,049 (GRCm39)	T276M	possibly damaging	Het
Exoc1	A	G	5: 76,715,965 (GRCm39)	K830R	probably benign	Het
F2r	G	T	13: 95,740,400 (GRCm39)	Y378*	probably null	Het
Fam186a	G	A	15: 99,839,539 (GRCm39)	T2235I	unknown	Het
Fmo3	T	G	1: 162,781,994 (GRCm39)	K453T	probably benign	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Galns	A	G	8: 123,330,955 (GRCm39)		probably benign	Het
Gm1818	T	C	12: 48,602,550 (GRCm39)		noncoding transcript	Het
Gm9955	C	A	18: 24,842,287 (GRCm39)		probably benign	Het
Immp2l	T	C	12: 41,750,470 (GRCm39)	V113A	probably damaging	Het
Iyd	T	A	10: 3,495,588 (GRCm39)	M82K	possibly damaging	Het
Kif21a	A	T	15: 90,869,008 (GRCm39)		probably benign	Het
Lipf	A	G	19: 33,953,935 (GRCm39)	D342G	probably damaging	Het
Lmbrd1	C	A	1: 24,786,011 (GRCm39)	Y435*	probably null	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mtrf1l	A	G	10: 5,763,265 (GRCm39)	S355P	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Neo1	T	C	9: 58,820,560 (GRCm39)	S788G	probably damaging	Het
Nfx1	T	G	4: 41,016,072 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,069,737 (GRCm39)	V546A	possibly damaging	Het
Oaf	T	A	9: 43,150,621 (GRCm39)	I84F	probably benign	Het
Obscn	A	G	11: 59,013,463 (GRCm39)	F1153S	probably damaging	Het
Ofcc1	A	T	13: 40,333,904 (GRCm39)	C396S	possibly damaging	Het
Omg	A	G	11: 79,393,166 (GRCm39)	S231P	probably benign	Het
Or51a7	T	G	7: 102,614,898 (GRCm39)	I197S	possibly damaging	Het
Or8g35	T	C	9: 39,381,215 (GRCm39)	D269G	probably benign	Het
Pdcl3	A	G	1: 39,034,016 (GRCm39)	T53A	possibly damaging	Het
Pik3r2	A	T	8: 71,224,542 (GRCm39)	H244Q	probably benign	Het
Pinx1	A	T	14: 64,103,586 (GRCm39)	H55L	probably damaging	Het
Pwwp2b	T	A	7: 138,834,758 (GRCm39)	H66Q	probably benign	Het
Rell2	A	G	18: 38,091,132 (GRCm39)	D99G	probably damaging	Het
Reln	G	A	5: 22,203,681 (GRCm39)	A1191V	probably damaging	Het
Rprm	T	C	2: 53,975,316 (GRCm39)	M1V	probably null	Het
Sav1	A	C	12: 70,031,269 (GRCm39)	H84Q	probably benign	Het
Scamp5	T	C	9: 57,358,692 (GRCm39)	D28G	possibly damaging	Het
Selenbp2	G	A	3: 94,604,122 (GRCm39)	G9D	probably damaging	Het
Sh3tc2	T	C	18: 62,122,792 (GRCm39)	W518R	probably damaging	Het
Slc10a6	A	T	5: 103,777,012 (GRCm39)	N29K	probably benign	Het
Spindoc	C	A	19: 7,351,922 (GRCm39)	D142Y	probably damaging	Het
Spink12	T	A	18: 44,240,795 (GRCm39)	D60E	probably benign	Het
Sugt1	A	G	14: 79,825,422 (GRCm39)	I23V	probably benign	Het
Syne2	T	C	12: 76,051,506 (GRCm39)	C4079R	probably benign	Het
Tex15	T	G	8: 34,066,415 (GRCm39)	Y1948*	probably null	Het
Thoc2l	T	A	5: 104,668,616 (GRCm39)	M1046K	probably damaging	Het
Tln2	T	C	9: 67,213,814 (GRCm39)	E321G	probably damaging	Het
Tmem198b	A	G	10: 128,638,065 (GRCm39)	L166P	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ttn	T	A	2: 76,730,566 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,106,034 (GRCm39)	T690I	probably damaging	Het
Ush2a	T	C	1: 188,198,373 (GRCm39)	I1479T	possibly damaging	Het
Vcan	G	A	13: 89,851,786 (GRCm39)	T1058I	possibly damaging	Het
Vmn1r84	T	C	7: 12,096,522 (GRCm39)	Q45R	probably benign	Het
Vmn2r111	T	C	17: 22,790,380 (GRCm39)	N209D	probably damaging	Het
Wbp1l	A	G	19: 46,632,883 (GRCm39)	Y40C	probably damaging	Het
Wdr72	A	T	9: 74,086,907 (GRCm39)	H625L	probably benign	Het
Zeb2	T	C	2: 44,892,623 (GRCm39)	Y195C	probably damaging	Het
Zkscan6	C	T	11: 65,705,256 (GRCm39)		probably benign	Het
Zmym6	C	A	4: 127,017,560 (GRCm39)	H1022N	probably damaging	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
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
R4254:Nwd2	UTSW	5	63,963,889 (GRCm39)	missense	possibly damaging	0.74
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'- ACAGAGTCTGCAACATCTTGACCAC -3'
(R):5'- ATACACCAGGTAGCGACCATCTCG -3'

Sequencing Primer
(F):5'- TGGACCGGAAGTATCACCAA -3'
(R):5'- GTAGCTTTCCACTGTGTAAATCCAG -3'

Posted On

2014-04-24