Mutagenetix > Incidental Mutation

Incidental Mutation 'R9644:Nemf'

726165

Institutional Source

Beutler Lab

Gene Symbol

Nemf

Ensembl Gene

ENSMUSG00000020982

Gene Name

nuclear export mediator factor

Synonyms

Sdccag1, 1500011I12Rik, 4933405E14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9644 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69358315-69403975 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69359436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 966 (N966I)

Ref Sequence

ENSEMBL: ENSMUSP00000021368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021362] [ENSMUST00000021368]

AlphaFold

Q8CCP0

Predicted Effect

probably benign
Transcript: ENSMUST00000021362

SMART Domains

Protein: ENSMUSP00000021362
Gene: ENSMUSG00000020978

Domain	Start	End	E-Value	Type
internal_repeat_1	7	117	3.66e-6	PROSPERO
internal_repeat_2	66	163	6.25e-5	PROSPERO
Pfam:Kelch_1	217	258	1.4e-6	PFAM
Pfam:Kelch_2	217	262	1.2e-7	PFAM
Pfam:Kelch_4	217	266	8.4e-8	PFAM
Pfam:Kelch_3	227	276	5.1e-9	PFAM
Pfam:Kelch_5	265	305	1.4e-6	PFAM
Pfam:Kelch_4	267	310	2e-9	PFAM
Pfam:Kelch_3	278	326	1.4e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021368
AA Change: N966I

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: N966I

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	A	4: 152,270,752 (GRCm39)	S32*	probably null	Het
Adam34	T	A	8: 44,104,766 (GRCm39)	H293L	probably damaging	Het
Adgrl3	A	G	5: 81,872,036 (GRCm39)	N910S	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Ankrd36	A	G	11: 5,593,835 (GRCm39)	D480G	possibly damaging	Het
Aox4	T	A	1: 58,267,278 (GRCm39)	D185E	probably benign	Het
Apol8	C	A	15: 77,633,695 (GRCm39)	V294L	probably damaging	Het
Arsk	G	A	13: 76,220,227 (GRCm39)	A289V	probably damaging	Het
Atg101	A	G	15: 101,188,447 (GRCm39)	D184G	probably benign	Het
Atp10b	C	T	11: 43,042,659 (GRCm39)	T73I	probably damaging	Het
Ccn4	T	G	15: 66,784,785 (GRCm39)	C153G		Het
Ccser2	A	T	14: 36,601,150 (GRCm39)	N411K	possibly damaging	Het
Cct5	A	G	15: 31,601,845 (GRCm39)	S3P	probably benign	Het
Chn1	A	T	2: 73,490,184 (GRCm39)	I31K	probably benign	Het
Clec2e	T	A	6: 129,070,443 (GRCm39)	I193L	probably benign	Het
Crim1	G	A	17: 78,587,497 (GRCm39)	G201R	probably damaging	Het
Ctrc	A	G	4: 141,572,336 (GRCm39)	V68A	probably damaging	Het
Dennd4c	T	A	4: 86,713,363 (GRCm39)	I438N	probably damaging	Het
Dnah5	T	A	15: 28,230,650 (GRCm39)	W183R	probably damaging	Het
Dnali1	T	A	4: 124,950,402 (GRCm39)	I253F	probably damaging	Het
Dyrk1b	T	C	7: 27,881,790 (GRCm39)	L83P	probably damaging	Het
Emx2	T	C	19: 59,452,427 (GRCm39)	I237T	probably benign	Het
Enpp3	C	T	10: 24,685,801 (GRCm39)	R198K	probably damaging	Het
Epb41l1	C	T	2: 156,367,165 (GRCm39)	P678L	possibly damaging	Het
Epm2aip1	C	T	9: 111,102,137 (GRCm39)	T370I	probably damaging	Het
Fam184a	T	G	10: 53,573,342 (GRCm39)	Q346P	probably damaging	Het
Foxi2	A	C	7: 135,013,727 (GRCm39)	H319P	possibly damaging	Het
Gatad1	A	G	5: 3,691,442 (GRCm39)	V250A	possibly damaging	Het
Gmeb1	T	C	4: 131,959,440 (GRCm39)	I205V	probably benign	Het
Gucy2g	C	G	19: 55,219,537 (GRCm39)	V362L	probably benign	Het
Hace1	T	C	10: 45,526,001 (GRCm39)	S281P	probably benign	Het
Helz	C	A	11: 107,563,687 (GRCm39)	A1709D	unknown	Het
Igf2bp2	T	A	16: 21,902,735 (GRCm39)	N115Y	probably damaging	Het
Igkv4-86	C	T	6: 68,887,593 (GRCm39)	V49I	probably benign	Het
Kdm2b	A	T	5: 123,120,842 (GRCm39)	V101E	probably damaging	Het
Kidins220	A	G	12: 25,061,018 (GRCm39)	D790G	probably damaging	Het
Kif18a	A	G	2: 109,171,517 (GRCm39)	T865A	probably benign	Het
Kif1b	A	G	4: 149,375,836 (GRCm39)	V10A	probably damaging	Het
Kmt2d	A	T	15: 98,743,385 (GRCm39)	M3925K	unknown	Het
Mcee	G	T	7: 64,061,730 (GRCm39)	A178S	possibly damaging	Het
Megf10	A	T	18: 57,375,773 (GRCm39)	H233L	probably benign	Het
Meox1	T	A	11: 101,769,482 (GRCm39)	E238V	probably benign	Het
Myo5a	G	A	9: 75,043,631 (GRCm39)	G207R	probably damaging	Het
Or10q3	T	C	19: 11,848,574 (GRCm39)	E2G	probably benign	Het
Or1j14	A	T	2: 36,417,777 (GRCm39)	M118L	probably damaging	Het
Or5b123	G	T	19: 13,597,344 (GRCm39)	A230S	probably benign	Het
Or6c204	A	G	10: 129,022,738 (GRCm39)	I184T	possibly damaging	Het
Pfas	T	C	11: 68,883,542 (GRCm39)	Q662R	probably benign	Het
Phf2	G	T	13: 49,024,218 (GRCm39)	C8*	probably null	Het
Pkhd1	T	A	1: 20,617,690 (GRCm39)	N965I	probably benign	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Prb1b	T	A	6: 132,289,218 (GRCm39)	Q202L	unknown	Het
Prdm8	A	T	5: 98,333,638 (GRCm39)	T402S	probably benign	Het
Proz	T	A	8: 13,116,854 (GRCm39)	D135E	probably benign	Het
Prtg	T	A	9: 72,813,493 (GRCm39)	I951K	probably damaging	Het
Rasgef1b	A	T	5: 99,380,014 (GRCm39)	Y288*	probably null	Het
Sacs	T	A	14: 61,443,428 (GRCm39)	C1825S	probably benign	Het
Slc22a12	G	C	19: 6,587,673 (GRCm39)	P427R	probably damaging	Het
Slfn3	A	G	11: 83,105,728 (GRCm39)	Y575C	probably damaging	Het
St18	C	T	1: 6,929,276 (GRCm39)	T56I		Het
Synrg	T	C	11: 83,910,696 (GRCm39)	L876S	probably damaging	Het
Tchh	T	C	3: 93,354,666 (GRCm39)	C1369R	unknown	Het
Tet2	G	A	3: 133,193,064 (GRCm39)	Q457*	probably null	Het
Thap12	T	C	7: 98,364,495 (GRCm39)	V221A	probably damaging	Het
Tor3a	T	A	1: 156,501,126 (GRCm39)	D104V	probably damaging	Het
Trpc2	T	C	7: 101,744,439 (GRCm39)	V737A	possibly damaging	Het
Trpc4	A	G	3: 54,129,699 (GRCm39)	Y155C	probably damaging	Het
Tspyl1	T	C	10: 34,159,135 (GRCm39)	S287P	possibly damaging	Het
Ube2u	TAGAAGAAGAAGAAGAAGAAGAAGAAGA	TAGAAGAAGAAGAAGAAGAAGAAGA	4: 100,406,943 (GRCm39)		probably benign	Het
Ubr2	A	G	17: 47,266,706 (GRCm39)		probably null	Het
Vmn1r238	T	A	18: 3,122,635 (GRCm39)	T260S	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
IGL02499:Nemf	APN	12	69,368,903 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- ACCAGTTACTACATGGAGATCAAAG -3'
(R):5'- GAACTGTAAGCAGAATTTGGGTAC -3'

Sequencing Primer
(F):5'- GATTCCTAAAGCTACTTGGCAATGAG -3'
(R):5'- TGTCAGATTGTATGTCAGAAAAGGC -3'

Posted On

2022-09-12