Mutagenetix > Incidental Mutation

Incidental Mutation 'R7869:Nmd3'

607956

Institutional Source

Beutler Lab

Gene Symbol

Nmd3

Ensembl Gene

ENSMUSG00000027787

Gene Name

NMD3 ribosome export adaptor

Synonyms

C87860

MMRRC Submission

045921-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69629354-69656380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69633750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 79 (L79P)

Ref Sequence

ENSEMBL: ENSMUSP00000029358 (fasta)

Gene Model

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

AlphaFold

Q99L48

Predicted Effect

probably damaging
Transcript: ENSMUST00000029358
AA Change: L79P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029358
Gene: ENSMUSG00000027787
AA Change: L79P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135266
AA Change: L79P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142290
Gene: ENSMUSG00000027787
AA Change: L79P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,332,001 (GRCm39)	R738C	possibly damaging	Het
Acot12	G	A	13: 91,919,844 (GRCm39)	V260M	probably benign	Het
Alkbh8	A	T	9: 3,359,503 (GRCm39)	H264L	probably damaging	Het
Arfgef2	C	T	2: 166,715,623 (GRCm39)	T1356I	probably damaging	Het
Arhgap27	A	T	11: 103,251,130 (GRCm39)	N199K	probably damaging	Het
Asic2	T	C	11: 81,858,824 (GRCm39)	R63G	probably damaging	Het
Aspa	T	A	11: 73,204,378 (GRCm39)	M197L	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Brdt	A	T	5: 107,518,045 (GRCm39)	I723L	probably benign	Het
C2cd3	T	A	7: 100,118,698 (GRCm39)	F2312Y	probably damaging	Het
Cd19	T	C	7: 126,009,698 (GRCm39)	N456S	probably damaging	Het
Ceacam1	G	T	7: 25,175,954 (GRCm39)	A80E	probably damaging	Het
Cep135	T	C	5: 76,788,803 (GRCm39)	V1132A	probably benign	Het
Cep85	A	G	4: 133,859,609 (GRCm39)	C687R	probably damaging	Het
Cln5	A	G	14: 103,313,501 (GRCm39)	Y251C	probably damaging	Het
Crygc	A	G	1: 65,111,014 (GRCm39)	M91T	possibly damaging	Het
Ddt	T	C	10: 75,609,060 (GRCm39)	K33R	probably damaging	Het
Dhfr	G	A	13: 92,494,471 (GRCm39)	W58*	probably null	Het
Dhx40	T	C	11: 86,688,532 (GRCm39)	E297G	probably benign	Het
Dner	T	C	1: 84,361,602 (GRCm39)	Y669C	probably benign	Het
Dpys	G	T	15: 39,656,782 (GRCm39)	F428L	probably damaging	Het
Dspp	A	C	5: 104,323,531 (GRCm39)	T225P	probably damaging	Het
Elac2	A	G	11: 64,890,213 (GRCm39)	K656E	probably damaging	Het
Ern1	T	A	11: 106,349,845 (GRCm39)	R24*	probably null	Het
F2rl2	T	C	13: 95,837,519 (GRCm39)	I188T	probably damaging	Het
Fam83b	C	T	9: 76,399,426 (GRCm39)	C559Y	possibly damaging	Het
Fat1	T	G	8: 45,504,259 (GRCm39)	F4584C	probably benign	Het
Gabra6	G	A	11: 42,207,322 (GRCm39)	T254I	possibly damaging	Het
Garem1	T	C	18: 21,432,757 (GRCm39)	D24G	probably damaging	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gpr68	C	T	12: 100,845,497 (GRCm39)	D16N	probably benign	Het
Il17b	T	C	18: 61,825,480 (GRCm39)	I172T	probably damaging	Het
Ildr2	T	G	1: 166,136,861 (GRCm39)	S567A	probably benign	Het
Kalrn	A	G	16: 33,809,217 (GRCm39)	V2557A	probably damaging	Het
Kif1b	A	G	4: 149,268,833 (GRCm39)	S1627P	probably benign	Het
Kif5a	G	A	10: 127,079,343 (GRCm39)	T285M	probably damaging	Het
Lrif1	G	A	3: 106,640,459 (GRCm39)		probably null	Het
Lrrn2	C	T	1: 132,867,116 (GRCm39)	T727I	unknown	Het
Lsg1	T	C	16: 30,383,540 (GRCm39)	E560G	probably benign	Het
Map4k4	C	A	1: 40,013,204 (GRCm39)	Q100K	unknown	Het
Mipep	A	T	14: 61,040,385 (GRCm39)	R302W	probably damaging	Het
Morf4l1	G	T	9: 89,975,844 (GRCm39)	T316K	probably damaging	Het
Mov10	A	T	3: 104,711,994 (GRCm39)	V126E	probably damaging	Het
Muc2	T	A	7: 141,303,471 (GRCm39)	C559S		Het
Myh7	A	G	14: 55,226,530 (GRCm39)	Y410H	probably damaging	Het
Nf1	T	A	11: 79,309,414 (GRCm39)	Y433N	probably damaging	Het
Nol10	G	T	12: 17,408,239 (GRCm39)	S155I	probably null	Het
Or2n1	T	C	17: 38,486,830 (GRCm39)	L285P	possibly damaging	Het
Or4p8	T	C	2: 88,727,408 (GRCm39)	I178V	probably benign	Het
Or52n2c	T	A	7: 104,574,311 (GRCm39)	Y220F	probably damaging	Het
Or5b12	A	G	19: 12,896,911 (GRCm39)	I254T	probably benign	Het
Pde3b	T	C	7: 114,093,922 (GRCm39)	S389P	probably benign	Het
Polr1c	C	T	17: 46,555,817 (GRCm39)	G188D	probably benign	Het
Prpf31	A	G	7: 3,633,859 (GRCm39)	M65V	probably benign	Het
Pum2	A	G	12: 8,763,595 (GRCm39)	T251A	probably benign	Het
Rabgap1	G	A	2: 37,377,142 (GRCm39)	V325I	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl15	G	T	14: 18,269,017 (GRCm38)	Y203*	probably null	Het
Sac3d1	G	A	19: 6,168,456 (GRCm39)	P54L	possibly damaging	Het
Serpina3g	A	G	12: 104,206,510 (GRCm39)	I104V	probably benign	Het
Setd2	C	T	9: 110,379,082 (GRCm39)	Q966*	probably null	Het
Simc1	G	T	13: 54,651,713 (GRCm39)	D9Y	unknown	Het
Slc5a8	T	C	10: 88,757,567 (GRCm39)	L519S	probably benign	Het
Srcap	C	A	7: 127,138,366 (GRCm39)	Q1179K	possibly damaging	Het
Srd5a3	T	C	5: 76,295,583 (GRCm39)	L91P	probably damaging	Het
Stab1	T	C	14: 30,876,429 (GRCm39)	T887A	probably benign	Het
Sult2a6	A	G	7: 13,988,737 (GRCm39)	F8L	not run	Het
Thsd7a	A	T	6: 12,471,123 (GRCm39)	C498*	probably null	Het
Timp4	T	C	6: 115,227,355 (GRCm39)	I75V	probably benign	Het
Tspyl4	T	A	10: 34,174,096 (GRCm39)	M196K	probably damaging	Het
Ubr2	T	C	17: 47,301,934 (GRCm39)	E172G	probably benign	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Unc13c	T	G	9: 73,602,159 (GRCm39)	L1362F	probably damaging	Het
Vmn2r11	A	G	5: 109,199,986 (GRCm39)	V489A	probably damaging	Het
Vps39	T	C	2: 120,169,875 (GRCm39)	T226A	possibly damaging	Het
Zan	C	T	5: 137,471,863 (GRCm39)	E185K	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
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
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'- ACTGGTCTCATGGGGTAAAGC -3'
(R):5'- TTATGGCAAAGACACTTGGTTC -3'

Sequencing Primer
(F):5'- CTCATGGGGTAAAGCTTTAGAGTAG -3'
(R):5'- GGCAAAGACACTTGGTTCAATTTCC -3'

Posted On

2019-12-20