Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02499:Nemf'

295938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nemf

Ensembl Gene

ENSMUSG00000020982

Gene Name

nuclear export mediator factor

Synonyms

Sdccag1, 1500011I12Rik, 4933405E14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02499

Quality Score

Status

Chromosome

Chromosomal Location

69358315-69403975 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69368903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 771 (I771F)

Ref Sequence

ENSEMBL: ENSMUSP00000021368 (fasta)

Gene Model

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

AlphaFold

Q8CCP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021368
AA Change: I771F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: I771F

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

noncoding transcript
Transcript: ENSMUST00000220674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221794

Coding Region Coverage

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abcb1a	A	G	5: 8,776,807 (GRCm39)	N835S	possibly damaging	Het
Abr	A	T	11: 76,399,916 (GRCm39)	F27Y	probably benign	Het
Adam5	C	T	8: 25,271,581 (GRCm39)		probably null	Het
Alas1	A	T	9: 106,118,520 (GRCm39)	Y201N	probably damaging	Het
Aldoart1	T	A	4: 72,770,476 (GRCm39)	R111W	possibly damaging	Het
Arhgef25	A	G	10: 127,021,460 (GRCm39)	Y253H	probably damaging	Het
Arhgef28	G	T	13: 98,090,291 (GRCm39)	A1076E	possibly damaging	Het
Baz2b	C	T	2: 59,731,840 (GRCm39)	R2066K	possibly damaging	Het
Bdh1	G	T	16: 31,256,866 (GRCm39)	R5L	possibly damaging	Het
Brap	A	G	5: 121,817,934 (GRCm39)	Y358C	probably damaging	Het
Cad	T	C	5: 31,226,948 (GRCm39)	V1235A	probably damaging	Het
Cadps	G	T	14: 12,822,725 (GRCm38)	S5*	probably null	Het
Cd200r2	A	G	16: 44,734,948 (GRCm39)	T220A	possibly damaging	Het
Cd209e	T	A	8: 3,904,238 (GRCm39)	M6L	probably benign	Het
Cdh23	G	T	10: 60,220,958 (GRCm39)	T1265K	probably damaging	Het
Clec16a	T	C	16: 10,512,540 (GRCm39)	S828P	probably benign	Het
Dao	A	G	5: 114,152,002 (GRCm39)	K107E	possibly damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dvl1	T	C	4: 155,939,237 (GRCm39)	I250T	probably benign	Het
Dzip3	A	C	16: 48,754,213 (GRCm39)	L945V	probably damaging	Het
Gm128	A	G	3: 95,147,992 (GRCm39)	S101P	possibly damaging	Het
Gphn	T	C	12: 78,539,074 (GRCm39)	L240P	probably benign	Het
Hecw2	A	G	1: 53,965,647 (GRCm39)	I393T	probably benign	Het
Iigp1c	T	C	18: 60,378,710 (GRCm39)	S82P	probably damaging	Het
Kat14	A	G	2: 144,235,751 (GRCm39)	E161G	probably benign	Het
Kcne3	A	C	7: 99,833,610 (GRCm39)	I76L	probably benign	Het
Kcnk18	A	T	19: 59,223,614 (GRCm39)	Q253L	probably benign	Het
Kmt2a	T	C	9: 44,741,806 (GRCm39)		probably benign	Het
Lrrc73	A	G	17: 46,567,915 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,296,056 (GRCm39)	S2993P	possibly damaging	Het
Mto1	T	A	9: 78,368,794 (GRCm39)		probably benign	Het
Myo9a	T	A	9: 59,722,669 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,467,342 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,566,885 (GRCm39)	T587A	probably benign	Het
Or10k2	T	A	8: 84,267,812 (GRCm39)	V13D	possibly damaging	Het
Or5k16	A	G	16: 58,736,614 (GRCm39)	L130P	probably damaging	Het
Or8c10	A	T	9: 38,278,977 (GRCm39)	Y45F	probably benign	Het
Papln	T	C	12: 83,827,445 (GRCm39)	V761A	probably benign	Het
Pask	A	T	1: 93,248,817 (GRCm39)	L861*	probably null	Het
Pcdh18	T	A	3: 49,707,896 (GRCm39)	R859S	probably benign	Het
Ppip5k1	C	T	2: 121,162,034 (GRCm39)		probably null	Het
Ptprs	A	G	17: 56,744,884 (GRCm39)	V284A	probably damaging	Het
Rasgrp4	A	T	7: 28,850,928 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,271 (GRCm39)	I614V	probably benign	Het
Sec23ip	T	C	7: 128,378,640 (GRCm39)	I818T	probably damaging	Het
Skint11	G	A	4: 114,051,801 (GRCm39)	A50T	probably benign	Het
Sqor	T	A	2: 122,650,007 (GRCm39)	M417K	possibly damaging	Het
Tbc1d24	T	C	17: 24,426,593 (GRCm39)		probably null	Het
Tbc1d8b	A	T	X: 138,613,173 (GRCm39)	D333V	probably damaging	Het
Tbx2	T	C	11: 85,731,739 (GRCm39)	S679P	possibly damaging	Het
Thbs2	A	G	17: 14,904,328 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,689,795 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,493,568 (GRCm39)	I126N	probably damaging	Het
Zbtb10	G	T	3: 9,316,800 (GRCm39)	G204V	probably damaging	Het
Zfp426	A	C	9: 20,384,414 (GRCm39)		probably benign	Het

Other mutations in Nemf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Nemf	APN	12	69,391,760 (GRCm39)	splice site	probably benign
IGL03352:Nemf	APN	12	69,378,679 (GRCm39)	missense	probably damaging	1.00
kaempfer	UTSW	12	69,399,110 (GRCm39)	missense	probably benign	0.01
R0335:Nemf	UTSW	12	69,400,577 (GRCm39)	missense	probably benign	0.16
R0538:Nemf	UTSW	12	69,403,088 (GRCm39)	missense	probably damaging	1.00
R0581:Nemf	UTSW	12	69,369,045 (GRCm39)	missense	probably benign
R0909:Nemf	UTSW	12	69,388,384 (GRCm39)	missense	probably damaging	1.00
R1792:Nemf	UTSW	12	69,359,343 (GRCm39)	missense	probably damaging	1.00
R1899:Nemf	UTSW	12	69,393,152 (GRCm39)	missense	probably null
R2080:Nemf	UTSW	12	69,400,560 (GRCm39)	splice site	probably benign
R3704:Nemf	UTSW	12	69,377,904 (GRCm39)	missense	probably damaging	1.00
R3842:Nemf	UTSW	12	69,378,723 (GRCm39)	missense	probably damaging	0.98
R4471:Nemf	UTSW	12	69,361,216 (GRCm39)	missense	probably benign	0.04
R4666:Nemf	UTSW	12	69,359,054 (GRCm39)	missense	probably damaging	1.00
R4720:Nemf	UTSW	12	69,371,062 (GRCm39)	missense	probably benign	0.05
R5198:Nemf	UTSW	12	69,402,821 (GRCm39)	missense	probably damaging	1.00
R5474:Nemf	UTSW	12	69,363,109 (GRCm39)	missense	probably benign	0.03
R6893:Nemf	UTSW	12	69,399,110 (GRCm39)	missense	probably benign	0.01
R7008:Nemf	UTSW	12	69,400,567 (GRCm39)	critical splice donor site	probably null
R7008:Nemf	UTSW	12	69,388,395 (GRCm39)	missense	possibly damaging	0.91
R7098:Nemf	UTSW	12	69,359,241 (GRCm39)	missense	probably damaging	1.00
R7154:Nemf	UTSW	12	69,363,515 (GRCm39)	critical splice donor site	probably null
R7452:Nemf	UTSW	12	69,384,733 (GRCm39)	splice site	probably null
R8130:Nemf	UTSW	12	69,402,826 (GRCm39)	missense	possibly damaging	0.91
R8340:Nemf	UTSW	12	69,400,659 (GRCm39)	missense	possibly damaging	0.94
R8914:Nemf	UTSW	12	69,363,089 (GRCm39)	nonsense	probably null
R9089:Nemf	UTSW	12	69,400,628 (GRCm39)	missense	probably damaging	1.00
R9150:Nemf	UTSW	12	69,387,820 (GRCm39)	missense	probably benign	0.00
R9228:Nemf	UTSW	12	69,388,093 (GRCm39)	missense	probably damaging	1.00
R9644:Nemf	UTSW	12	69,359,436 (GRCm39)	missense	possibly damaging	0.64

Posted On

2015-04-16