Mutagenetix > Incidental Mutation

Incidental Mutation 'R1548:Nwd2'

172317

Institutional Source

Beutler Lab

Gene Symbol

Nwd2

Ensembl Gene

ENSMUSG00000090061

Gene Name

NACHT and WD repeat domain containing 2

Synonyms

3110047P20Rik, B830017A01Rik

MMRRC Submission

039587-MU

Accession Numbers

Essential gene?

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

Stock #

R1548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63806446-63967889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63957525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 285 (D285V)

Ref Sequence

ENSEMBL: ENSMUSP00000124712 (fasta)

Gene Model

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

AlphaFold

Q6P5U7

Predicted Effect

probably benign
Transcript: ENSMUST00000159584
AA Change: D285V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000124712
Gene: ENSMUSG00000090061
AA Change: D285V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,588,818 (GRCm39)	R78S	probably damaging	Het
Acad10	G	C	5: 121,764,104 (GRCm39)		probably benign	Het
Acad10	G	T	5: 121,764,103 (GRCm39)		probably benign	Het
Ang2	C	A	14: 51,432,990 (GRCm39)	E131*	probably null	Het
Ankfn1	T	C	11: 89,417,367 (GRCm39)	N82D	probably damaging	Het
Anks1b	T	C	10: 89,885,847 (GRCm39)	I181T	possibly damaging	Het
Bcl2l12	C	G	7: 44,642,242 (GRCm39)	G215R	probably damaging	Het
Bnc2	A	G	4: 84,194,194 (GRCm39)	Y1044H	probably damaging	Het
Cacna1s	T	C	1: 136,038,675 (GRCm39)	F1172S	probably damaging	Het
Cct8	A	G	16: 87,282,472 (GRCm39)	I482T	probably damaging	Het
Cfap74	C	T	4: 155,518,502 (GRCm39)	T580I	probably benign	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cpa1	G	A	6: 30,642,334 (GRCm39)	G245D	probably damaging	Het
Csmd3	A	G	15: 47,845,371 (GRCm39)	V801A	possibly damaging	Het
Ddx10	T	C	9: 53,060,861 (GRCm39)		probably null	Het
Ddx4	T	C	13: 112,736,531 (GRCm39)	N613S	probably damaging	Het
Drd3	A	G	16: 43,641,704 (GRCm39)	D340G	probably benign	Het
E2f4	A	G	8: 106,031,320 (GRCm39)	*411W	probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Foxp1	A	T	6: 98,922,381 (GRCm39)	I450N	probably damaging	Het
Ftdc1	A	T	16: 58,436,202 (GRCm39)	D40E	probably benign	Het
Gpr19	A	G	6: 134,847,047 (GRCm39)	F175S	possibly damaging	Het
Gpr21	C	T	2: 37,408,084 (GRCm39)	T210M	probably damaging	Het
Grhl2	C	T	15: 37,336,567 (GRCm39)	A488V	probably benign	Het
Hif3a	T	C	7: 16,778,328 (GRCm39)	T435A	probably benign	Het
Hoxb4	C	T	11: 96,209,725 (GRCm39)	R44*	probably null	Het
Ifi47	A	G	11: 48,986,698 (GRCm39)	D155G	probably damaging	Het
Igdcc4	T	C	9: 65,042,509 (GRCm39)	L142P	probably benign	Het
Ints6	G	A	14: 62,951,141 (GRCm39)	P296L	probably damaging	Het
Itga3	A	G	11: 94,937,745 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Krtap20-1	G	A	16: 88,812,277 (GRCm39)		probably benign	Het
Lgals12	A	T	19: 7,581,677 (GRCm39)	H50Q	probably benign	Het
Lrp12	A	G	15: 39,735,902 (GRCm39)	S696P	probably damaging	Het
Lrp6	G	A	6: 134,436,392 (GRCm39)	T1258I	possibly damaging	Het
Meis2	C	T	2: 115,889,183 (GRCm39)	D190N	probably damaging	Het
Mir100hg	T	C	9: 41,492,672 (GRCm39)	L116P	probably damaging	Het
Mon2	C	T	10: 122,871,912 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,238,368 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo15a	A	G	11: 60,379,064 (GRCm39)	H1394R	probably damaging	Het
Myo5a	A	T	9: 75,079,028 (GRCm39)	I929F	probably damaging	Het
Nek6	T	A	2: 38,458,907 (GRCm39)	Y141N	probably damaging	Het
Notch4	T	A	17: 34,787,396 (GRCm39)	C319S	probably damaging	Het
Olfml1	T	C	7: 107,189,582 (GRCm39)	S216P	possibly damaging	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Pfkfb2	G	T	1: 130,625,820 (GRCm39)	H453Q	probably benign	Het
Pigt	C	T	2: 164,343,439 (GRCm39)	T305I	probably benign	Het
Plxnb1	C	T	9: 108,929,968 (GRCm39)	L275F	possibly damaging	Het
Ppm1d	C	T	11: 85,230,431 (GRCm39)	R350C	probably damaging	Het
Prss1l	G	T	6: 41,372,945 (GRCm39)	L72F	probably damaging	Het
Rassf1	C	A	9: 107,429,045 (GRCm39)	P84T	probably benign	Het
Rgl3	G	T	9: 21,892,002 (GRCm39)	R361S	probably benign	Het
Rnf213	G	A	11: 119,333,533 (GRCm39)	R2914H	probably damaging	Het
Ryr2	A	T	13: 11,569,435 (GRCm39)	C4956*	probably null	Het
Scaper	C	T	9: 55,723,954 (GRCm39)	R668H	probably damaging	Het
Spata6	T	C	4: 111,636,203 (GRCm39)	F165L	probably benign	Het
Tcirg1	A	T	19: 3,946,845 (GRCm39)	W694R	probably benign	Het
Tmem245	A	T	4: 56,906,233 (GRCm39)	Y160*	probably null	Het
Tshr	T	C	12: 91,500,805 (GRCm39)	Y279H	probably damaging	Het
Ttf1	A	C	2: 28,955,150 (GRCm39)	K171N	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Xdh	A	G	17: 74,220,896 (GRCm39)	V611A	probably damaging	Het
Zfp142	G	T	1: 74,609,263 (GRCm39)	H1408N	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
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
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'- GGGCACATGGTTCCATCGTTCAAG -3'
(R):5'- AGTCTCCGTGTCAAAGTTCTGCTG -3'

Sequencing Primer
(F):5'- GGTTCCATCGTTCAAGACAATG -3'
(R):5'- AAAGTTCTGCTGTACTGTTGCC -3'

Posted On

2014-04-13