Mutagenetix > Incidental Mutation

Incidental Mutation 'R0017:Nmd3'

19336

Institutional Source

Beutler Lab

Gene Symbol

Nmd3

Ensembl Gene

ENSMUSG00000027787

Gene Name

NMD3 ribosome export adaptor

Synonyms

C87860

MMRRC Submission

038312-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R0017 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

69629354-69656380 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 69643425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029358] [ENSMUST00000143041]

AlphaFold

Q99L48

Predicted Effect

probably null
Transcript: ENSMUST00000029358

SMART Domains

Protein: ENSMUSP00000029358
Gene: ENSMUSG00000027787

Domain	Start	End	E-Value	Type
Pfam:NMD3	17	246	6.6e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127211

Predicted Effect

probably benign
Transcript: ENSMUST00000143041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194168

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.2%

Validation Efficiency

96% (76/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,226,938 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,242,775 (GRCm39)	I1546N	probably damaging	Het
Actrt3	A	T	3: 30,652,422 (GRCm39)	M224K	probably benign	Het
Adgrv1	T	C	13: 81,727,065 (GRCm39)	N429S	probably benign	Het
Appbp2	A	C	11: 85,105,129 (GRCm39)	C146G	possibly damaging	Het
Cabp2	A	C	19: 4,136,242 (GRCm39)	D83A	possibly damaging	Het
Ccl1	A	G	11: 82,068,843 (GRCm39)		probably null	Het
Cdca8	T	C	4: 124,814,168 (GRCm39)	T208A	probably benign	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Dcdc5	G	A	2: 106,187,541 (GRCm39)		noncoding transcript	Het
Efr3b	C	A	12: 4,043,003 (GRCm39)	C89F	probably damaging	Het
Enpp3	C	T	10: 24,675,051 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,821,395 (GRCm39)	V2467E	probably damaging	Het
Ermap	T	C	4: 119,037,145 (GRCm39)		probably benign	Het
Fig4	A	G	10: 41,149,003 (GRCm39)	Y150H	possibly damaging	Het
Fsip2	G	A	2: 82,822,416 (GRCm39)	V6050M	probably damaging	Het
Gnb1l	T	C	16: 18,359,810 (GRCm39)	W72R	probably damaging	Het
Gpld1	A	G	13: 25,174,101 (GRCm39)	D842G	probably damaging	Het
Hmgcr	A	G	13: 96,788,597 (GRCm39)		probably benign	Het
Hrc	A	G	7: 44,985,794 (GRCm39)	H315R	possibly damaging	Het
Ifit2	A	T	19: 34,550,973 (GRCm39)	N171I	probably damaging	Het
Ipo11	T	A	13: 107,023,238 (GRCm39)	I416L	probably benign	Het
Kcnab1	G	A	3: 65,264,527 (GRCm39)	V259M	probably damaging	Het
Kcng4	T	C	8: 120,360,259 (GRCm39)	Y39C	probably damaging	Het
Kif5c	A	G	2: 49,622,725 (GRCm39)	T526A	probably benign	Het
Kntc1	A	G	5: 123,919,044 (GRCm39)	Y805C	probably damaging	Het
Mal	A	G	2: 127,482,227 (GRCm39)	S59P	probably damaging	Het
Myh15	A	G	16: 48,983,423 (GRCm39)	N1513D	probably damaging	Het
Ncoa2	A	G	1: 13,244,976 (GRCm39)	L574P	probably damaging	Het
Nucb2	A	G	7: 116,132,386 (GRCm39)	D331G	probably benign	Het
Nwd1	T	C	8: 73,436,053 (GRCm39)		probably benign	Het
Nynrin	T	C	14: 56,109,852 (GRCm39)	F1653S	probably damaging	Het
Or4a80	A	C	2: 89,582,365 (GRCm39)	I269S	possibly damaging	Het
Or7c19	T	A	8: 85,957,706 (GRCm39)	I194N	probably benign	Het
Or8b12b	T	G	9: 37,684,274 (GRCm39)	F106L	probably benign	Het
Pfdn6	T	C	17: 34,158,538 (GRCm39)	R79G	probably damaging	Het
Pkd1	G	T	17: 24,797,513 (GRCm39)		probably null	Het
Pramel4	T	G	4: 143,794,914 (GRCm39)	C434G	probably benign	Het
Ptpn13	T	C	5: 103,634,638 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,393,825 (GRCm39)	V831A	probably benign	Het
Rabl6	A	T	2: 25,492,579 (GRCm39)		probably benign	Het
Reg3b	T	A	6: 78,349,844 (GRCm39)	M128K	possibly damaging	Het
Rif1	A	G	2: 52,006,686 (GRCm39)	T2207A	probably benign	Het
Rpa1	A	C	11: 75,205,687 (GRCm39)	N223K	probably null	Het
Rras2	T	C	7: 113,647,490 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,746,967 (GRCm39)	E3760V	probably damaging	Het
Scyl3	T	A	1: 163,767,538 (GRCm39)	I204N	possibly damaging	Het
Serpinb9h	A	C	13: 33,588,494 (GRCm39)	I360L	probably damaging	Het
Slc16a12	A	G	19: 34,650,098 (GRCm39)		probably benign	Het
Slc22a1	A	G	17: 12,878,646 (GRCm39)	F356L	probably damaging	Het
Slc22a29	A	G	19: 8,195,630 (GRCm39)		probably benign	Het
Slc45a1	C	A	4: 150,714,023 (GRCm39)	D741Y	possibly damaging	Het
Slco1a5	A	T	6: 142,182,061 (GRCm39)		probably benign	Het
Smg5	G	T	3: 88,258,412 (GRCm39)	R461L	probably damaging	Het
Snrk	T	C	9: 121,995,306 (GRCm39)	S362P	probably damaging	Het
Spata31d1b	A	G	13: 59,863,883 (GRCm39)	S344G	probably benign	Het
Sync	G	A	4: 129,187,537 (GRCm39)	V190M	probably damaging	Het
Taf5l	T	C	8: 124,730,383 (GRCm39)	Y67C	probably damaging	Het
Tbkbp1	A	G	11: 97,037,115 (GRCm39)		probably benign	Het
Tshr	A	T	12: 91,504,660 (GRCm39)	I533F	possibly damaging	Het
Tsn	T	C	1: 118,228,589 (GRCm39)	D211G	probably damaging	Het
Ttn	G	A	2: 76,621,988 (GRCm39)	T15518I	probably benign	Het
Unc13c	T	C	9: 73,600,583 (GRCm39)	D1387G	probably benign	Het
Vapb	A	G	2: 173,613,397 (GRCm39)	T99A	probably benign	Het
Vmn2r127	A	G	17: 19,373,879 (GRCm39)		noncoding transcript	Het
Zfp280d	A	T	9: 72,246,292 (GRCm39)		probably null	Het

Other mutations in Nmd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Nmd3	APN	3	69,652,573 (GRCm39)	missense	possibly damaging	0.63
IGL01014:Nmd3	APN	3	69,633,719 (GRCm39)	missense	probably benign	0.00
IGL01289:Nmd3	APN	3	69,631,620 (GRCm39)	missense	possibly damaging	0.85
IGL02566:Nmd3	APN	3	69,647,247 (GRCm39)	unclassified	probably benign
IGL03259:Nmd3	APN	3	69,652,576 (GRCm39)	missense	possibly damaging	0.49
IGL03299:Nmd3	APN	3	69,637,762 (GRCm39)	splice site	probably null
IGL03382:Nmd3	APN	3	69,642,421 (GRCm39)	missense	probably damaging	0.99
R0025:Nmd3	UTSW	3	69,655,654 (GRCm39)	missense	probably damaging	1.00
R0350:Nmd3	UTSW	3	69,650,907 (GRCm39)	missense	probably damaging	1.00
R1136:Nmd3	UTSW	3	69,654,049 (GRCm39)	splice site	probably benign
R1635:Nmd3	UTSW	3	69,647,317 (GRCm39)	missense	probably benign	0.03
R3081:Nmd3	UTSW	3	69,631,732 (GRCm39)	splice site	probably benign
R3686:Nmd3	UTSW	3	69,654,095 (GRCm39)	missense	probably damaging	1.00
R3758:Nmd3	UTSW	3	69,631,641 (GRCm39)	nonsense	probably null
R4384:Nmd3	UTSW	3	69,631,731 (GRCm39)	splice site	probably benign
R4774:Nmd3	UTSW	3	69,652,569 (GRCm39)	missense	probably benign	0.11
R4778:Nmd3	UTSW	3	69,638,924 (GRCm39)	nonsense	probably null
R4953:Nmd3	UTSW	3	69,638,970 (GRCm39)	missense	possibly damaging	0.92
R5000:Nmd3	UTSW	3	69,624,735 (GRCm39)	unclassified	probably benign
R5182:Nmd3	UTSW	3	69,629,801 (GRCm39)	critical splice donor site	probably null
R6043:Nmd3	UTSW	3	69,652,580 (GRCm39)	missense	probably benign
R6355:Nmd3	UTSW	3	69,636,680 (GRCm39)	missense	probably benign	0.22
R6760:Nmd3	UTSW	3	69,654,170 (GRCm39)	critical splice donor site	probably null
R7869:Nmd3	UTSW	3	69,633,750 (GRCm39)	missense	probably damaging	1.00
R8024:Nmd3	UTSW	3	69,637,298 (GRCm39)	unclassified	probably benign
R8729:Nmd3	UTSW	3	69,655,682 (GRCm39)	missense	possibly damaging	0.88
R9018:Nmd3	UTSW	3	69,647,328 (GRCm39)	missense	probably benign	0.08
R9419:Nmd3	UTSW	3	69,643,349 (GRCm39)	missense	probably benign	0.14
R9499:Nmd3	UTSW	3	69,647,329 (GRCm39)	missense	possibly damaging	0.92
R9551:Nmd3	UTSW	3	69,647,329 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCTAGGCATTCAAGATGGAAGAGACAC -3'
(R):5'- GGGCATTCCAATCCACAGTTATAAACACA -3'

Sequencing Primer
(F):5'- ttcatagaccaactcagccc -3'
(R):5'- AGTGTTTAGCCAGCCAACA -3'

Posted On

2013-04-11