Mutagenetix > Incidental Mutation

Incidental Mutation 'R8130:Nemf'

631990

Institutional Source

Beutler Lab

Gene Symbol

Nemf

Ensembl Gene

ENSMUSG00000020982

Gene Name

nuclear export mediator factor

Synonyms

1500011I12Rik, 4933405E14Rik, Sdccag1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69310522-69357165 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69356052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 70 (M70K)

Ref Sequence

ENSEMBL: ENSMUSP00000021368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021368] [ENSMUST00000220484] [ENSMUST00000222065]

AlphaFold

Q8CCP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021368
AA Change: M70K

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: M70K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220484
AA Change: M70K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222065
AA Change: M70K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.1738

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 97.3%

Validation Efficiency

96% (52/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,563,009	I130M	probably damaging	Het
4921539E11Rik	T	C	4: 103,235,698	D142G	probably damaging	Het
4931428F04Rik	G	A	8: 105,285,513	R101W	probably benign	Het
Abcb10	C	T	8: 123,965,018	A403T		Het
Arfgef2	T	A	2: 166,836,250	S218T	possibly damaging	Het
Armc8	C	T	9: 99,551,547	V40I	probably benign	Het
C87414	A	T	5: 93,636,738	L289Q	probably damaging	Het
Caps2	A	T	10: 112,182,476	D177V	probably benign	Het
Cdh8	A	T	8: 99,031,044	F641I	probably damaging	Het
Cemip	T	C	7: 83,947,176	S1127G	probably benign	Het
Cmtm1	C	A	8: 104,309,456	Q180H	unknown	Het
Col15a1	C	T	4: 47,312,196	T1337I	probably damaging	Het
Col18a1	A	T	10: 77,074,450	M555K	probably benign	Het
Ctrb1	A	G	8: 111,689,191	F89L	possibly damaging	Het
Disp1	T	C	1: 183,135,635	T76A	probably benign	Het
Dpep1	T	C	8: 123,200,226	V263A	probably damaging	Het
Dysf	G	A	6: 84,137,376	E1216K	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,980	Y45C	probably benign	Het
Fam186a	CGG	CG	15: 99,944,033		probably null	Het
Gcm1	T	A	9: 78,064,534	D252E	probably benign	Het
Gm11559	A	G	11: 99,864,590	T22A	unknown	Het
Gm4847	C	T	1: 166,638,348	R224Q	probably damaging	Het
Gm4869	C	T	5: 140,474,961	R461C	probably damaging	Het
Hypk	A	G	2: 121,456,378		probably benign	Het
I830077J02Rik	C	T	3: 105,926,917	C64Y	possibly damaging	Het
Igkv4-86	T	C	6: 68,910,666	I30V	probably benign	Het
Il17ra	A	G	6: 120,478,455	I342V	probably benign	Het
Kcnip3	C	T	2: 127,510,908	A64T	possibly damaging	Het
Kdm5d	T	A	Y: 940,658	D1056E	possibly damaging	Het
Krtap19-2	C	T	16: 88,874,015	G81R	unknown	Het
Ldlrad1	G	A	4: 107,209,491	A8T	probably benign	Het
Lpin1	A	T	12: 16,579,964	I69N		Het
Mki67	C	T	7: 135,697,564	D1914N	probably damaging	Het
Mmrn1	A	T	6: 60,960,723	Q235L	probably damaging	Het
Mndal	T	A	1: 173,871,545	K185*	probably null	Het
Muc6	T	C	7: 141,647,087	T802A	probably damaging	Het
Necab1	A	T	4: 15,005,073	F130L	probably damaging	Het
Nploc4	A	G	11: 120,389,414	I436T	possibly damaging	Het
Obscn	C	A	11: 59,124,613	R1011M	probably damaging	Het
Olfr1058	T	A	2: 86,385,567	M284L	probably benign	Het
Olfr1107	T	C	2: 87,071,226	K303E	probably benign	Het
Olfr1294	A	T	2: 111,537,480	F270I	probably damaging	Het
Ormdl1	T	A	1: 53,298,980	M1K	probably null	Het
Psmb3	A	G	11: 97,703,897	D38G	probably benign	Het
Psme4	T	A	11: 30,842,026	L1171Q	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Slc22a18	G	A	7: 143,499,174	V379I	probably damaging	Het
Speg	T	A	1: 75,415,596	F1632L	probably damaging	Het
Taok1	G	A	11: 77,579,833	R49C	possibly damaging	Het
Ttll6	T	C	11: 96,156,599	S675P	probably benign	Het
Usp8	A	T	2: 126,717,998		probably benign	Het
Vmn2r81	T	A	10: 79,274,704	N550K	possibly damaging	Het
Zfp119a	A	T	17: 55,865,971	C291S	probably damaging	Het
Zfp329	C	A	7: 12,810,386	G404C	probably damaging	Het
Zfp934	C	A	13: 62,520,171		probably null	Het

Other mutations in Nemf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Nemf	APN	12	69344986	splice site	probably benign
IGL02499:Nemf	APN	12	69322129	missense	probably damaging	1.00
IGL03352:Nemf	APN	12	69331905	missense	probably damaging	1.00
kaempfer	UTSW	12	69352336	missense	probably benign	0.01
R0335:Nemf	UTSW	12	69353803	missense	probably benign	0.16
R0538:Nemf	UTSW	12	69356314	missense	probably damaging	1.00
R0581:Nemf	UTSW	12	69322271	missense	probably benign
R0909:Nemf	UTSW	12	69341610	missense	probably damaging	1.00
R1792:Nemf	UTSW	12	69312569	missense	probably damaging	1.00
R1899:Nemf	UTSW	12	69346378	missense	probably null
R2080:Nemf	UTSW	12	69353786	splice site	probably benign
R3704:Nemf	UTSW	12	69331130	missense	probably damaging	1.00
R3842:Nemf	UTSW	12	69331949	missense	probably damaging	0.98
R4471:Nemf	UTSW	12	69314442	missense	probably benign	0.04
R4666:Nemf	UTSW	12	69312280	missense	probably damaging	1.00
R4720:Nemf	UTSW	12	69324288	missense	probably benign	0.05
R5198:Nemf	UTSW	12	69356047	missense	probably damaging	1.00
R5474:Nemf	UTSW	12	69316335	missense	probably benign	0.03
R6893:Nemf	UTSW	12	69352336	missense	probably benign	0.01
R7008:Nemf	UTSW	12	69341621	missense	possibly damaging	0.91
R7008:Nemf	UTSW	12	69353793	critical splice donor site	probably null
R7098:Nemf	UTSW	12	69312467	missense	probably damaging	1.00
R7154:Nemf	UTSW	12	69316741	critical splice donor site	probably null
R7452:Nemf	UTSW	12	69337959	splice site	probably null
R8340:Nemf	UTSW	12	69353885	missense	possibly damaging	0.94
R8914:Nemf	UTSW	12	69316315	nonsense	probably null
R9089:Nemf	UTSW	12	69353854	missense	probably damaging	1.00
R9150:Nemf	UTSW	12	69341046	missense	probably benign	0.00
R9228:Nemf	UTSW	12	69341319	missense	probably damaging	1.00
R9644:Nemf	UTSW	12	69312662	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TCAGCAGATTAAGGCACATGG -3'
(R):5'- CTTGCTAGGAATGAGAGTAAACAAC -3'

Sequencing Primer
(F):5'- TTCCAGGTCAGCAGATTAAGGCAC -3'
(R):5'- GGATAACAAGACATATCTTATTCGGC -3'

Posted On

2020-06-30