Mutagenetix > Incidental Mutation

Incidental Mutation 'R6447:Nwd2'

519222

Institutional Source

Beutler Lab

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

MMRRC Submission

044389-MU

Accession Numbers

Essential gene?

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

Stock #

R6447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63806446-63967889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63964898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1494 (I1494N)

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 benign
Transcript: ENSMUST00000159584
AA Change: I1494N

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061
AA Change: I1494N

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	A	G	3: 59,772,819 (GRCm39)	I108V	probably damaging	Het
Axl	C	A	7: 25,469,708 (GRCm39)	R476I	probably damaging	Het
Casr	A	G	16: 36,315,907 (GRCm39)	L721P	probably damaging	Het
Cntn6	A	T	6: 104,836,409 (GRCm39)	H925L	probably damaging	Het
Csmd1	T	C	8: 15,960,527 (GRCm39)	Y3296C	probably damaging	Het
Dnah3	G	A	7: 119,522,277 (GRCm39)	T3972M	probably benign	Het
Ect2	A	G	3: 27,169,633 (GRCm39)	F740S	probably damaging	Het
Eif1ad10	T	C	12: 88,216,494 (GRCm39)	D126G	unknown	Het
Exoc1	T	A	5: 76,691,364 (GRCm39)	D222E	probably damaging	Het
Hdac2	T	C	10: 36,869,812 (GRCm39)	V258A	possibly damaging	Het
Lrrk1	A	G	7: 65,952,476 (GRCm39)	S487P	probably benign	Het
Lyplal1	A	T	1: 185,821,639 (GRCm39)		probably null	Het
Pcdhb22	A	G	18: 37,653,269 (GRCm39)	E579G	possibly damaging	Het
Samd8	T	C	14: 21,842,624 (GRCm39)		probably null	Het
Sccpdh	A	G	1: 179,506,453 (GRCm39)	*131W	probably null	Het
Smarcal1	C	T	1: 72,625,033 (GRCm39)	S60L	probably damaging	Het
Stau2	A	T	1: 16,460,049 (GRCm39)	V264E	possibly damaging	Het
T	T	C	17: 8,660,463 (GRCm39)	I217T	possibly damaging	Het
Tbc1d1	C	T	5: 64,490,836 (GRCm39)	L896F	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,676,086 (GRCm39)	Y365C	probably damaging	Het
Trdv4	A	G	14: 54,312,931 (GRCm39)	T102A	probably damaging	Het
Vmn1r205	G	T	13: 22,776,912 (GRCm39)	N63K	probably damaging	Het
Vps13b	T	C	15: 35,572,272 (GRCm39)	V963A	probably benign	Het
Zswim2	T	C	2: 83,745,457 (GRCm39)		probably null	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
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
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'- TGCAACATCTTGACCACTTTGC -3'
(R):5'- ATGACTCCAGAGGCGTGAAC -3'

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

Posted On

2018-05-24