Mutagenetix > Incidental Mutation

Incidental Mutation 'R4193:Nwd2'

318400

Institutional Source

Beutler Lab

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

MMRRC Submission

041024-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R4193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63806446-63967889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63964808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1464 (L1464P)

Ref Sequence

ENSEMBL: ENSMUSP00000124712 (fasta)

Gene Model

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

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: L1464P

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

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061
AA Change: L1464P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 35,818,536 (GRCm39)	R178L	possibly damaging	Het
Abcb1a	G	A	5: 8,765,068 (GRCm39)		probably null	Het
Acap3	A	G	4: 155,986,234 (GRCm39)	T285A	probably benign	Het
Adam20	A	T	8: 41,248,352 (GRCm39)	N154I	probably damaging	Het
Adamts8	A	T	9: 30,870,604 (GRCm39)	D693V	probably damaging	Het
Ak9	A	G	10: 41,211,941 (GRCm39)	H226R	probably benign	Het
Atp6v1b1	A	G	6: 83,720,085 (GRCm39)	S7G	probably benign	Het
Atxn7l3b	C	A	10: 112,764,610 (GRCm39)	L6F	probably damaging	Het
Bco1	C	T	8: 117,840,208 (GRCm39)	T242M	probably damaging	Het
Btla	A	G	16: 45,070,845 (GRCm39)	N268S	probably benign	Het
Capn9	A	G	8: 125,327,225 (GRCm39)	S292G	probably null	Het
Cdhr18	C	T	14: 13,914,416 (GRCm38)	V9I	probably benign	Het
Col7a1	G	A	9: 108,785,740 (GRCm39)	S403N	unknown	Het
Ctps1	A	G	4: 120,405,335 (GRCm39)	V369A	probably damaging	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Dnah7a	T	C	1: 53,486,493 (GRCm39)	K3356R	probably benign	Het
Dpf2	G	A	19: 5,957,044 (GRCm39)	R60*	probably null	Het
Eif3h	A	T	15: 51,662,695 (GRCm39)	V117E	probably damaging	Het
Fam234a	A	T	17: 26,432,834 (GRCm39)	L467Q	probably damaging	Het
Fez1	T	A	9: 36,755,023 (GRCm39)	S7R	probably damaging	Het
Fh1	T	A	1: 175,442,407 (GRCm39)	M148L	possibly damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Gfm1	T	G	3: 67,339,053 (GRCm39)	I52S	probably damaging	Het
Gm6729	A	T	10: 86,376,483 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,192,906 (GRCm39)	L149R	probably damaging	Het
H2bc27	T	A	11: 58,840,067 (GRCm39)	L101Q	probably damaging	Het
Ifnar2	A	T	16: 91,201,232 (GRCm39)	D491V	probably damaging	Het
Igkv14-126	T	C	6: 67,873,367 (GRCm39)	S32P	possibly damaging	Het
Il1rl2	A	G	1: 40,404,208 (GRCm39)	E443G	probably damaging	Het
Impg2	A	G	16: 56,088,774 (GRCm39)	D1100G	probably benign	Het
Itga2	G	A	13: 115,023,185 (GRCm39)	R56*	probably null	Het
Itga2b	A	G	11: 102,360,511 (GRCm39)	S10P	probably benign	Het
Jmjd1c	C	T	10: 66,932,460 (GRCm39)		probably benign	Het
Kdm7a	T	G	6: 39,146,030 (GRCm39)	K299T	probably damaging	Het
Large2	T	A	2: 92,195,704 (GRCm39)	D632V	probably damaging	Het
Lrp2	C	T	2: 69,297,487 (GRCm39)	C3158Y	probably damaging	Het
Malt1	T	A	18: 65,580,746 (GRCm39)	D213E	probably benign	Het
Nkapl	T	C	13: 21,651,512 (GRCm39)	Q367R	probably benign	Het
Or1e25	C	G	11: 73,494,243 (GRCm39)	T279R	probably damaging	Het
Or2y1	A	C	11: 49,386,134 (GRCm39)	Y258S	probably damaging	Het
Or7a40	A	T	16: 16,491,511 (GRCm39)	D111E	possibly damaging	Het
Or8u10	T	A	2: 85,916,044 (GRCm39)	I26F	probably benign	Het
Or9g20	C	T	2: 85,630,362 (GRCm39)	C84Y	probably benign	Het
P2ry2	A	G	7: 100,647,657 (GRCm39)	V216A	probably benign	Het
Pcdhb1	A	G	18: 37,400,199 (GRCm39)	K717E	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Phactr3	T	A	2: 177,924,945 (GRCm39)	H293Q	probably damaging	Het
Pias1	T	C	9: 62,859,286 (GRCm39)	D74G	possibly damaging	Het
Plekhg6	T	C	6: 125,350,081 (GRCm39)	T286A	probably benign	Het
Pramel23	A	T	4: 143,424,903 (GRCm39)	L180Q	probably damaging	Het
Prkag2	A	C	5: 25,083,758 (GRCm39)	M75R	probably damaging	Het
Prl7c1	T	A	13: 27,960,261 (GRCm39)	M94L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Ptprn2	A	G	12: 116,864,628 (GRCm39)	I548V	probably benign	Het
Ptprr	T	C	10: 116,088,769 (GRCm39)	W307R	probably damaging	Het
Rab29	T	C	1: 131,797,700 (GRCm39)	S52P	possibly damaging	Het
Ralgapa2	A	G	2: 146,184,493 (GRCm39)	F1505L	probably damaging	Het
Scn8a	C	T	15: 100,869,484 (GRCm39)	A209V	probably damaging	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Septin4	A	T	11: 87,474,142 (GRCm39)		probably null	Het
Slc17a5	C	A	9: 78,466,388 (GRCm39)	V269L	possibly damaging	Het
Slc2a9	T	C	5: 38,556,049 (GRCm39)	N299S	probably damaging	Het
Slc41a2	T	A	10: 83,137,085 (GRCm39)	H274L	probably damaging	Het
Suco	A	T	1: 161,691,528 (GRCm39)	D43E	probably benign	Het
Tacr2	T	A	10: 62,088,958 (GRCm39)	I121N	probably damaging	Het
Tanc2	G	A	11: 105,804,888 (GRCm39)		probably benign	Het
Tbl1xr1	T	C	3: 22,254,522 (GRCm39)	F322L	possibly damaging	Het
Tdrd1	T	A	19: 56,839,773 (GRCm39)	L611*	probably null	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tmprss12	T	C	15: 100,187,185 (GRCm39)	V217A	probably damaging	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn1r71	A	T	7: 10,482,175 (GRCm39)	I105K	possibly damaging	Het
Vmn2r57	A	G	7: 41,077,663 (GRCm39)	F168L	probably benign	Het
Zfp945	C	T	17: 23,070,144 (GRCm39)		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
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'- CCACAACGACCAGTTTGTG -3'
(R):5'- AATGCCGAGCTTCCCATTG -3'

Sequencing Primer
(F):5'- GGTCTCTCTCTGTGAGGAGAAC -3'
(R):5'- CTCCAGGTTTTTCAAGAAGTTGC -3'

Posted On

2015-06-10