Mutagenetix > Incidental Mutation

Incidental Mutation 'R5182:Nmd3'

397592

Institutional Source

Beutler Lab

Gene Symbol

Nmd3

Ensembl Gene

ENSMUSG00000027787

Gene Name

NMD3 ribosome export adaptor

Synonyms

C87860

MMRRC Submission

042853-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5182 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69629354-69656380 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 69629801 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 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: 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 null
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

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	A	G	19: 21,608,129 (GRCm39)	M1T	probably null	Het
Abcg8	T	C	17: 85,000,172 (GRCm39)	L243P	probably damaging	Het
Ankrd27	A	G	7: 35,327,912 (GRCm39)	T811A	probably damaging	Het
Auts2	T	C	5: 131,503,919 (GRCm39)	N188S	probably null	Het
Bak1	G	A	17: 27,241,722 (GRCm39)	P65L	possibly damaging	Het
Cep350	A	C	1: 155,733,854 (GRCm39)	L3013R	probably damaging	Het
Clca3b	A	G	3: 144,533,776 (GRCm39)	I533T	probably damaging	Het
Col6a5	C	A	9: 105,734,531 (GRCm39)	E2637*	probably null	Het
Coq5	G	A	5: 115,417,815 (GRCm39)	R15H	probably benign	Het
Dnah5	T	G	15: 28,311,424 (GRCm39)	I1801S	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dpf3	T	C	12: 83,417,370 (GRCm39)	E34G	probably damaging	Het
Dst	C	A	1: 34,218,167 (GRCm39)	Q1536K	probably benign	Het
Eeig2	T	C	3: 108,892,667 (GRCm39)	K173E	possibly damaging	Het
Eng	T	C	2: 32,562,971 (GRCm39)		probably null	Het
Fignl1	A	T	11: 11,751,717 (GRCm39)	I446N	probably damaging	Het
Fras1	C	A	5: 96,784,032 (GRCm39)	C845*	probably null	Het
Gfm2	T	C	13: 97,299,401 (GRCm39)	V347A	probably damaging	Het
Gpld1	A	T	13: 25,168,053 (GRCm39)		probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsdmc4	C	A	15: 63,765,653 (GRCm39)	V299F	probably damaging	Het
Hrnr	A	T	3: 93,239,450 (GRCm39)	R3229S	unknown	Het
Icam5	A	G	9: 20,946,106 (GRCm39)	T313A	probably benign	Het
Ift172	T	A	5: 31,424,958 (GRCm39)	D668V	possibly damaging	Het
Kdm5a	T	A	6: 120,365,066 (GRCm39)	C322*	probably null	Het
Klk6	A	G	7: 43,478,084 (GRCm39)	K152R	probably benign	Het
Man1a2	A	C	3: 100,554,333 (GRCm39)	I250S	probably damaging	Het
Nkpd1	A	G	7: 19,257,181 (GRCm39)	Y170C	probably damaging	Het
Or2y3	A	G	17: 38,393,005 (GRCm39)	M288T	probably benign	Het
Or51f1	A	T	7: 102,506,176 (GRCm39)	D104E	probably benign	Het
Pax4	C	T	6: 28,444,368 (GRCm39)	E229K	probably benign	Het
Pdc	T	C	1: 150,209,105 (GRCm39)	I196T	possibly damaging	Het
Pld1	T	C	3: 28,099,230 (GRCm39)	I299T	probably damaging	Het
Pnma1	T	C	12: 84,193,819 (GRCm39)	I295V	probably benign	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Psmd12	T	C	11: 107,370,485 (GRCm39)	L28P	probably damaging	Het
Ptprg	A	G	14: 12,154,174 (GRCm38)	T632A	probably benign	Het
Rab43	A	G	6: 87,771,637 (GRCm39)	*118R	probably null	Het
Rabep1	C	T	11: 70,795,454 (GRCm39)	R227*	probably null	Het
Rad51c	T	G	11: 87,288,545 (GRCm39)	I213L	possibly damaging	Het
Ranbp17	A	T	11: 33,169,287 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,585,495 (GRCm39)	E2735G	probably damaging	Het
Sdc3	A	G	4: 130,548,995 (GRCm39)		probably benign	Het
Sirpa	G	A	2: 129,457,652 (GRCm39)	R242H	possibly damaging	Het
Slc12a4	G	A	8: 106,671,238 (GRCm39)	T983M	probably damaging	Het
Snx7	A	G	3: 117,626,506 (GRCm39)	Y252H	probably damaging	Het
St18	C	T	1: 6,887,877 (GRCm39)	T482I	probably benign	Het
St7	A	G	6: 17,846,236 (GRCm39)	Y163C	probably damaging	Het
Tas2r140	A	T	6: 40,468,866 (GRCm39)	Q232L	probably benign	Het
Tgm6	A	T	2: 129,983,222 (GRCm39)	K270N	probably damaging	Het
Tiam2	G	A	17: 3,488,996 (GRCm39)	G768D	probably damaging	Het
Ttn	C	T	2: 76,700,773 (GRCm39)		probably benign	Het
Ube4b	A	C	4: 149,465,699 (GRCm39)	S250R	probably null	Het
Ubxn2a	G	A	12: 4,930,634 (GRCm39)	A242V	probably damaging	Het
Usp10	G	A	8: 120,683,420 (GRCm39)	V764I	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,667 (GRCm39)	L182P	probably damaging	Het
Vmn2r114	A	G	17: 23,510,632 (GRCm39)	V616A	probably damaging	Het
Vps13a	A	G	19: 16,672,863 (GRCm39)	V1303A	possibly damaging	Het
Wnk2	G	T	13: 49,214,637 (GRCm39)	T1315K	possibly damaging	Het
Zfp936	G	A	7: 42,839,331 (GRCm39)	C266Y	probably damaging	Het
Zscan20	G	T	4: 128,480,504 (GRCm39)	N662K	possibly 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
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
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'- TATTTCGCCCTGTCACGGAG -3'
(R):5'- GGACGTCTTCTCAAAGCACTC -3'

Sequencing Primer
(F):5'- TCACGGAGCTGCTGGTAG -3'
(R):5'- AAAGGACCTCTCCTGCTA -3'

Posted On

2016-07-06