Mutagenetix > Incidental Mutation

Incidental Mutation 'R3081:Nmd3'

265413

Institutional Source

Beutler Lab

Gene Symbol

Nmd3

Ensembl Gene

ENSMUSG00000027787

Gene Name

NMD3 ribosome export adaptor

Synonyms

C87860

MMRRC Submission

040571-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R3081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69629354-69656380 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 69631732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115736 (fasta)

Gene Model

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

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: 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: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	T	A	7: 97,214,432 (GRCm39)	T48S	probably benign	Het
Abcc3	T	A	11: 94,247,802 (GRCm39)	L1230F	probably damaging	Het
Abcf3	T	A	16: 20,378,114 (GRCm39)	I542N	probably benign	Het
Als2	A	G	1: 59,226,508 (GRCm39)	L932P	probably damaging	Het
Arhgap45	G	A	10: 79,862,281 (GRCm39)	R583H	probably damaging	Het
Asl	T	C	5: 130,042,245 (GRCm39)	Y277C	probably damaging	Het
Bcl9	A	T	3: 97,112,989 (GRCm39)	N1155K	possibly damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Cdkn2aip	T	C	8: 48,164,532 (GRCm39)	K394E	probably damaging	Het
Cfap70	A	G	14: 20,470,830 (GRCm39)	Y472H	probably damaging	Het
Cfap77	T	A	2: 28,852,662 (GRCm39)	K203N	probably damaging	Het
Cldn14	T	C	16: 93,716,192 (GRCm39)	K218R	probably damaging	Het
Coro6	T	C	11: 77,359,738 (GRCm39)	F336S	probably damaging	Het
Derl1	C	A	15: 57,739,007 (GRCm39)		probably benign	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dock2	T	A	11: 34,181,610 (GRCm39)	H1651L	probably benign	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Dzip3	T	C	16: 48,747,921 (GRCm39)	H1163R	probably damaging	Het
Efcab9	T	C	11: 32,473,689 (GRCm39)	D35G	probably benign	Het
Evpl	T	C	11: 116,111,678 (GRCm39)	D2004G	probably damaging	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fastkd3	T	C	13: 68,732,987 (GRCm39)	V436A	probably benign	Het
Fbxl5	A	G	5: 43,908,222 (GRCm39)	Y660H	probably damaging	Het
Glt8d1	T	C	14: 30,728,617 (GRCm39)	V15A	probably benign	Het
Gpr25	A	C	1: 136,187,623 (GRCm39)	I330S	possibly damaging	Het
Hdac5	A	T	11: 102,096,436 (GRCm39)	V257E	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Lrriq1	T	A	10: 102,980,750 (GRCm39)	S1462C	probably damaging	Het
Mgat3	A	G	15: 80,096,055 (GRCm39)	D294G	probably benign	Het
Mylk2	A	G	2: 152,761,274 (GRCm39)	N459S	probably benign	Het
Myo3b	A	C	2: 70,086,927 (GRCm39)		probably benign	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Nfxl1	C	T	5: 72,686,378 (GRCm39)	A608T	possibly damaging	Het
Nol8	C	T	13: 49,831,868 (GRCm39)		probably benign	Het
Or1e29	A	T	11: 73,668,051 (GRCm39)	M34K	probably damaging	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8b42	T	A	9: 38,342,352 (GRCm39)	M258K	possibly damaging	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pcdhgb2	T	C	18: 37,824,566 (GRCm39)	F519S	probably damaging	Het
Phf11c	A	G	14: 59,618,933 (GRCm39)	V284A	probably benign	Het
Rasl11a	G	T	5: 146,784,113 (GRCm39)	C186F	probably benign	Het
Rps18-ps3	T	C	8: 107,989,469 (GRCm39)		noncoding transcript	Het
Rusc1	A	G	3: 88,999,030 (GRCm39)	S251P	possibly damaging	Het
Rxfp3	T	C	15: 11,037,303 (GRCm39)	E23G	probably benign	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Slc22a4	A	G	11: 53,898,615 (GRCm39)	V159A	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Ssc4d	T	C	5: 135,994,578 (GRCm39)	T51A	possibly damaging	Het
Stip1	C	T	19: 7,013,016 (GRCm39)	A23T	probably benign	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Tmed4	T	C	11: 6,224,151 (GRCm39)	H115R	probably benign	Het
Tmem255b	T	A	8: 13,501,048 (GRCm39)	L74H	probably damaging	Het
Trav6n-5	A	T	14: 53,342,741 (GRCm39)	H93L	possibly damaging	Het
Tsen54	T	A	11: 115,710,990 (GRCm39)	D187E	probably benign	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Vmn2r88	A	G	14: 51,656,089 (GRCm39)	N775S	probably damaging	Het
Vps13a	G	T	19: 16,642,101 (GRCm39)	N2175K	probably benign	Het
Wnk4	A	G	11: 101,167,717 (GRCm39)		probably benign	Het
Zfp180	A	T	7: 23,804,928 (GRCm39)	Q449L	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
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
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'- GTAGAATCTTGAAGGCTTTGGC -3'
(R):5'- CCTTACCAGATTAGTAGGACAGTAG -3'

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

Posted On

2015-02-05