Mutagenetix > Incidental Mutation

Incidental Mutation 'R1136:Nmd3'

94966

Institutional Source

Beutler Lab

Gene Symbol

Nmd3

Ensembl Gene

ENSMUSG00000027787

Gene Name

NMD3 ribosome export adaptor

Synonyms

C87860

MMRRC Submission

039209-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1136 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69629354-69656380 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 69654049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029358 (fasta)

Gene Model

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

AlphaFold

Q99L48

Predicted Effect

probably benign
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: ENSMUST00000150210

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

100% (52/52)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	C	T	13: 68,878,436 (GRCm39)	G401S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bmp2	T	C	2: 133,402,847 (GRCm39)	F133L	probably damaging	Het
C1qtnf3	A	G	15: 10,978,670 (GRCm39)	E290G	probably damaging	Het
Ccdc180	C	A	4: 45,914,589 (GRCm39)	D701E	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Csmd3	A	T	15: 47,539,213 (GRCm39)	I1508N	probably damaging	Het
Dgkh	T	C	14: 78,862,329 (GRCm39)	R80G	probably damaging	Het
Dock1	T	A	7: 134,449,902 (GRCm39)	V805D	possibly damaging	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Ercc6l2	T	A	13: 64,016,934 (GRCm39)	V679D	possibly damaging	Het
Esp6	T	C	17: 40,876,284 (GRCm39)	Y111H	probably benign	Het
Focad	T	C	4: 88,244,417 (GRCm39)	F799S	unknown	Het
Foxred1	C	A	9: 35,116,333 (GRCm39)	M438I	probably benign	Het
Galnt11	T	G	5: 25,463,943 (GRCm39)	V405G	probably damaging	Het
Gm4847	A	G	1: 166,457,935 (GRCm39)	Y473H	probably damaging	Het
Gpbp1l1	C	T	4: 116,450,115 (GRCm39)	T461M	probably damaging	Het
Hnrnpu	A	T	1: 178,158,790 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,755,646 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,705,948 (GRCm39)	H291R	probably damaging	Het
Mfsd14b	C	T	13: 65,243,506 (GRCm39)	S46N	probably benign	Het
Mtch1	C	T	17: 29,552,744 (GRCm39)		probably null	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mylk	T	C	16: 34,820,688 (GRCm39)	I1880T	probably damaging	Het
N4bp2	T	C	5: 65,965,815 (GRCm39)	L1288P	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Npdc1	G	T	2: 25,297,727 (GRCm39)	A127S	probably benign	Het
Nudt3	C	A	17: 27,842,080 (GRCm39)	R27L	probably benign	Het
Nwd1	C	T	8: 73,424,397 (GRCm39)		probably benign	Het
Pex7	T	A	10: 19,764,434 (GRCm39)	I170F	probably benign	Het
Phyhipl	A	G	10: 70,404,902 (GRCm39)	V57A	probably damaging	Het
Pkhd1	G	A	1: 20,593,053 (GRCm39)	P1687S	possibly damaging	Het
Plekhj1	A	T	10: 80,633,654 (GRCm39)		probably null	Het
Prss21	T	A	17: 24,091,968 (GRCm39)	L312H	probably damaging	Het
Samsn1	T	C	16: 75,670,408 (GRCm39)	I232V	probably null	Het
Sec63	A	T	10: 42,682,542 (GRCm39)	D411V	probably damaging	Het
Slc44a4	C	T	17: 35,146,998 (GRCm39)	H343Y	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tent2	C	T	13: 93,312,205 (GRCm39)		probably null	Het
Tmtc3	A	G	10: 100,307,905 (GRCm39)		probably benign	Het
Trafd1	C	T	5: 121,511,387 (GRCm39)	R477H	possibly damaging	Het
Uhrf2	T	A	19: 30,033,626 (GRCm39)		probably benign	Het
Vmn2r68	T	A	7: 84,871,549 (GRCm39)	D578V	possibly damaging	Het
Wdcp	G	A	12: 4,901,655 (GRCm39)	V504I	possibly damaging	Het
Wdr93	T	C	7: 79,423,196 (GRCm39)	Y487H	probably damaging	Het
Zfp457	T	C	13: 67,441,846 (GRCm39)	H147R	probably damaging	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
R0017:Nmd3	UTSW	3	69,643,425 (GRCm39)	splice site	probably null
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
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'- AAGGTCACATGAGGAGGTCGCT -3'
(R):5'- GCTTGCCCCTGAAACTGCTTGTA -3'

Sequencing Primer
(F):5'- CTGTAATGTTTCAAAATGGGCTG -3'
(R):5'- TTGTAAGGGTCCAGGAAAGC -3'

Posted On

2014-01-05