Mutagenetix > Incidental Mutations

Incidental Mutation 'R4384:Nmd3'

326098

Institutional Source

Beutler Lab

Gene Symbol

Nmd3

Ensembl Gene

ENSMUSG00000027787

Gene Name

NMD3 ribosome export adaptor

Synonyms

C87860

MMRRC Submission

042002-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69721985-69756373 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 69724398 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029358] [ENSMUST00000135266] [ENSMUST00000143041] [ENSMUST00000143249]

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: ENSMUST00000127211

Predicted Effect

probably benign
Transcript: ENSMUST00000135266

SMART Domains

Protein: ENSMUSP00000142290
Gene: ENSMUSG00000027787

Domain	Start	End	E-Value	Type
Pfam:NMD3	17	128	2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143041

Predicted Effect

probably benign
Transcript: ENSMUST00000143249

SMART Domains

Protein: ENSMUSP00000115736
Gene: ENSMUSG00000027787

Domain	Start	End	E-Value	Type
Pfam:NMD3	17	76	1.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194168

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,568	V27E	possibly damaging	Het
Adam23	T	C	1: 63,566,628	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,930,157	C132*	probably null	Het
Boc	A	T	16: 44,491,182	L726H	probably damaging	Het
Brip1	A	T	11: 86,148,429	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,988	Q654L	probably benign	Het
Calr3	T	A	8: 72,428,164	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,748,460	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 66,019,908	V119A	probably damaging	Het
Ddias	G	A	7: 92,858,223	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,811,450	Y763C	probably damaging	Het
Dscam	T	A	16: 96,709,216	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,919,393		probably benign	Het
E2f8	G	A	7: 48,867,099	T844I	possibly damaging	Het
Eps8	T	A	6: 137,499,592	H603L	probably benign	Het
Esrrg	G	A	1: 188,043,711	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,594,563	R467*	probably null	Het
Gad2	G	A	2: 22,685,410	V509I	probably benign	Het
Gpat4	A	G	8: 23,174,586	I446T	probably benign	Het
Klhl12	T	G	1: 134,487,654	D435E	probably damaging	Het
Luc7l	T	C	17: 26,279,962		probably benign	Het
March2	C	A	17: 33,696,193	M142I	probably benign	Het
Marf1	T	A	16: 14,142,641	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,696,439	D114G	possibly damaging	Het
Med1	G	A	11: 98,152,862		probably benign	Het
Meikin	C	T	11: 54,417,787	Q404*	probably null	Het
Myh9	A	T	15: 77,791,712		probably benign	Het
Mylip	T	C	13: 45,389,958	M1T	probably null	Het
Ncapg2	T	C	12: 116,439,877		probably null	Het
Nwd2	T	A	5: 63,806,571	L1166H	probably damaging	Het
Olfr341	A	G	2: 36,479,998	L44P	probably damaging	Het
Olfr912	T	C	9: 38,582,053	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,856,902	I71T	probably damaging	Het
Rwdd3	T	C	3: 121,158,757		probably benign	Het
Ryr2	T	C	13: 11,605,233	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,298,257	Q273R	probably benign	Het
Sdha	A	T	13: 74,326,985	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,702,883	L771P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,247,727	E624G	possibly damaging	Het
Tada3	G	T	6: 113,370,379	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,247,933	M130V	probably damaging	Het
Trpc1	C	A	9: 95,732,108	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,640,507	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,917,725	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,428,682	S80P	probably benign	Het
Usp54	A	T	14: 20,550,085		probably null	Het
Vmn2r27	A	G	6: 124,224,156	Y281H	probably benign	Het
Vwf	T	A	6: 125,655,116	I37N	unknown	Het
Zfp329	G	A	7: 12,811,657		probably benign	Het
Zfp616	G	T	11: 74,083,179	L91F	possibly damaging	Het

Other mutations in Nmd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Nmd3	APN	3	69745240	missense	possibly damaging	0.63
IGL01014:Nmd3	APN	3	69726386	missense	probably benign	0.00
IGL01289:Nmd3	APN	3	69724287	missense	possibly damaging	0.85
IGL02566:Nmd3	APN	3	69739914	unclassified	probably benign
IGL03259:Nmd3	APN	3	69745243	missense	possibly damaging	0.49
IGL03299:Nmd3	APN	3	69730429	splice site	probably null
IGL03382:Nmd3	APN	3	69735088	missense	probably damaging	0.99
R0017:Nmd3	UTSW	3	69736092	splice site	probably null
R0025:Nmd3	UTSW	3	69748321	missense	probably damaging	1.00
R0350:Nmd3	UTSW	3	69743574	missense	probably damaging	1.00
R1136:Nmd3	UTSW	3	69746716	splice site	probably benign
R1635:Nmd3	UTSW	3	69739984	missense	probably benign	0.03
R3081:Nmd3	UTSW	3	69724399	splice site	probably benign
R3686:Nmd3	UTSW	3	69746762	missense	probably damaging	1.00
R3758:Nmd3	UTSW	3	69724308	nonsense	probably null
R4774:Nmd3	UTSW	3	69745236	missense	probably benign	0.11
R4778:Nmd3	UTSW	3	69731591	nonsense	probably null
R4953:Nmd3	UTSW	3	69731637	missense	possibly damaging	0.92
R5000:Nmd3	UTSW	3	69717402	unclassified	probably benign
R5182:Nmd3	UTSW	3	69722468	critical splice donor site	probably null
R6043:Nmd3	UTSW	3	69745247	missense	probably benign
R6355:Nmd3	UTSW	3	69729347	missense	probably benign	0.22
R6760:Nmd3	UTSW	3	69746837	critical splice donor site	probably null
R7869:Nmd3	UTSW	3	69726417	missense	probably damaging	1.00
R8024:Nmd3	UTSW	3	69729965	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTAGAATCTTGAAGGCTTTGGC -3'
(R):5'- CCTTACCAGATTAGTAGGACAGTAG -3'

Sequencing Primer
(F):5'- AAGGCTTTGGCTTGGTAGG -3'
(R):5'- GTAGAAAGCACAGCATAAAACTGC -3'

Posted On

2015-07-06