Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:Nemf'

605534

Institutional Source

Beutler Lab

Gene Symbol

Nemf

Ensembl Gene

ENSMUSG00000020982

Gene Name

nuclear export mediator factor

Synonyms

1500011I12Rik, 4933405E14Rik, Sdccag1

MMRRC Submission

045526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69310522-69357165 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 69337959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021368]

AlphaFold

Q8CCP0

Predicted Effect

probably null
Transcript: ENSMUST00000021368

SMART Domains

Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982

Domain	Start	End	E-Value	Type
Pfam:FbpA	6	523	5.5e-42	PFAM
Pfam:DUF814	530	630	9e-27	PFAM
low complexity region	697	708	N/A	INTRINSIC
low complexity region	861	879	N/A	INTRINSIC
low complexity region	894	918	N/A	INTRINSIC
Pfam:DUF3441	956	1055	9.8e-33	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,245,671 (GRCm38)	S595P	probably benign	Het
A2m	C	A	6: 121,641,332 (GRCm38)	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600 (GRCm38)	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602 (GRCm38)	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981 (GRCm38)	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745 (GRCm38)	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391 (GRCm38)	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051 (GRCm38)	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790 (GRCm38)	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549 (GRCm38)	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127 (GRCm38)	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092 (GRCm38)	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680 (GRCm38)	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127 (GRCm38)	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076 (GRCm38)	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584 (GRCm38)	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090 (GRCm38)	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784 (GRCm38)	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731 (GRCm38)	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247 (GRCm38)	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598 (GRCm38)	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524 (GRCm38)	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036 (GRCm38)	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465 (GRCm38)	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403 (GRCm38)	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736 (GRCm38)	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357 (GRCm38)		probably null	Het
F7	C	T	8: 13,035,215 (GRCm38)	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455 (GRCm38)	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637 (GRCm38)	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988 (GRCm38)	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518 (GRCm38)	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474 (GRCm38)	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044 (GRCm38)	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428 (GRCm38)	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486 (GRCm38)	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326 (GRCm38)	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282 (GRCm38)		probably null	Het
Iqgap1	A	G	7: 80,760,829 (GRCm38)	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796 (GRCm38)	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948 (GRCm38)	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693 (GRCm38)	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140 (GRCm38)	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030 (GRCm38)	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705 (GRCm38)	H98Q	possibly damaging	Het
Neto1	A	T	18: 86,498,931 (GRCm38)	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962 (GRCm38)	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921 (GRCm38)	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381 (GRCm38)	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593 (GRCm38)	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088 (GRCm38)	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045 (GRCm38)	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414 (GRCm38)	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318 (GRCm38)	V262I	probably benign	Het
Poli	A	G	18: 70,508,978 (GRCm38)	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559 (GRCm38)	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121 (GRCm38)	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222 (GRCm38)	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876 (GRCm38)	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992 (GRCm38)	G191E	unknown	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832 (GRCm38)	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114 (GRCm38)	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356 (GRCm38)	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855 (GRCm38)	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713 (GRCm38)	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268 (GRCm38)	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488 (GRCm38)	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831 (GRCm38)	I47F		Het
Trp53bp2	C	T	1: 182,446,568 (GRCm38)	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143 (GRCm38)		probably null	Het
Usf3	T	C	16: 44,220,034 (GRCm38)	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898 (GRCm38)	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676 (GRCm38)	A517S	probably damaging	Het

Other mutations in Nemf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Nemf	APN	12	69,344,986 (GRCm38)	splice site	probably benign
IGL02499:Nemf	APN	12	69,322,129 (GRCm38)	missense	probably damaging	1.00
IGL03352:Nemf	APN	12	69,331,905 (GRCm38)	missense	probably damaging	1.00
kaempfer	UTSW	12	69,352,336 (GRCm38)	missense	probably benign	0.01
R0335:Nemf	UTSW	12	69,353,803 (GRCm38)	missense	probably benign	0.16
R0538:Nemf	UTSW	12	69,356,314 (GRCm38)	missense	probably damaging	1.00
R0581:Nemf	UTSW	12	69,322,271 (GRCm38)	missense	probably benign
R0909:Nemf	UTSW	12	69,341,610 (GRCm38)	missense	probably damaging	1.00
R1792:Nemf	UTSW	12	69,312,569 (GRCm38)	missense	probably damaging	1.00
R1899:Nemf	UTSW	12	69,346,378 (GRCm38)	missense	probably null
R2080:Nemf	UTSW	12	69,353,786 (GRCm38)	splice site	probably benign
R3704:Nemf	UTSW	12	69,331,130 (GRCm38)	missense	probably damaging	1.00
R3842:Nemf	UTSW	12	69,331,949 (GRCm38)	missense	probably damaging	0.98
R4471:Nemf	UTSW	12	69,314,442 (GRCm38)	missense	probably benign	0.04
R4666:Nemf	UTSW	12	69,312,280 (GRCm38)	missense	probably damaging	1.00
R4720:Nemf	UTSW	12	69,324,288 (GRCm38)	missense	probably benign	0.05
R5198:Nemf	UTSW	12	69,356,047 (GRCm38)	missense	probably damaging	1.00
R5474:Nemf	UTSW	12	69,316,335 (GRCm38)	missense	probably benign	0.03
R6893:Nemf	UTSW	12	69,352,336 (GRCm38)	missense	probably benign	0.01
R7008:Nemf	UTSW	12	69,353,793 (GRCm38)	critical splice donor site	probably null
R7008:Nemf	UTSW	12	69,341,621 (GRCm38)	missense	possibly damaging	0.91
R7098:Nemf	UTSW	12	69,312,467 (GRCm38)	missense	probably damaging	1.00
R7154:Nemf	UTSW	12	69,316,741 (GRCm38)	critical splice donor site	probably null
R8130:Nemf	UTSW	12	69,356,052 (GRCm38)	missense	possibly damaging	0.91
R8340:Nemf	UTSW	12	69,353,885 (GRCm38)	missense	possibly damaging	0.94
R8914:Nemf	UTSW	12	69,316,315 (GRCm38)	nonsense	probably null
R9089:Nemf	UTSW	12	69,353,854 (GRCm38)	missense	probably damaging	1.00
R9150:Nemf	UTSW	12	69,341,046 (GRCm38)	missense	probably benign	0.00
R9228:Nemf	UTSW	12	69,341,319 (GRCm38)	missense	probably damaging	1.00
R9644:Nemf	UTSW	12	69,312,662 (GRCm38)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- ACTCTGTATGTGTGCTTGACATTC -3'
(R):5'- CCATTAAGATTTCTCCACATAGGAC -3'

Sequencing Primer
(F):5'- GTATGTGTGCTTGACATTCTAAATG -3'
(R):5'- CCAAACTCAGGTCATCAGGTTTGG -3'

Posted On

2019-12-11