Incidental Mutation 'R1792:Nemf'
ID 201862
Institutional Source Beutler Lab
Gene Symbol Nemf
Ensembl Gene ENSMUSG00000020982
Gene Name nuclear export mediator factor
Synonyms Sdccag1, 1500011I12Rik, 4933405E14Rik
MMRRC Submission 039822-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1792 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 69358315-69403975 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69359343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 997 (Y997F)
Ref Sequence ENSEMBL: ENSMUSP00000021368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021362] [ENSMUST00000021368] [ENSMUST00000021368]
AlphaFold Q8CCP0
Predicted Effect probably benign
Transcript: ENSMUST00000021362
SMART Domains Protein: ENSMUSP00000021362
Gene: ENSMUSG00000020978

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000021368
AA Change: Y997F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: Y997F

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000021368
AA Change: Y997F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: Y997F

DomainStartEndE-ValueType
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: ENSMUST00000138585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221278
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.4%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C T 11: 110,074,870 (GRCm39) V1398I probably benign Het
Ackr3 A T 1: 90,142,620 (GRCm39) N360Y probably benign Het
Acr T G 15: 89,457,346 (GRCm39) M198R probably benign Het
Adamts14 A T 10: 61,054,277 (GRCm39) M585K probably benign Het
Adgrb3 A T 1: 25,267,552 (GRCm39) C853S probably damaging Het
Arhgef28 G T 13: 98,067,694 (GRCm39) S1410R probably benign Het
Asprv1 T A 6: 86,605,354 (GRCm39) F67I possibly damaging Het
Atp8b4 T A 2: 126,167,214 (GRCm39) Y1095F probably benign Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Ccdc57 T C 11: 120,788,707 (GRCm39) Q380R possibly damaging Het
Cdc45 A T 16: 18,626,090 (GRCm39) D142E probably benign Het
Cs A T 10: 128,195,948 (GRCm39) N386Y possibly damaging Het
Dsc3 A T 18: 20,120,055 (GRCm39) V201E probably damaging Het
Dusp26 G T 8: 31,581,963 (GRCm39) R19L probably benign Het
Esyt3 C A 9: 99,240,169 (GRCm39) E92* probably null Het
Ext2 T C 2: 93,534,890 (GRCm39) N625D probably damaging Het
Flvcr2 A T 12: 85,793,929 (GRCm39) K102* probably null Het
Fmnl2 T A 2: 52,932,329 (GRCm39) S103T possibly damaging Het
Fmo4 T A 1: 162,621,859 (GRCm39) I451F probably benign Het
Gak A T 5: 108,733,397 (GRCm39) Y47* probably null Het
Gbp10 A T 5: 105,372,166 (GRCm39) L198Q probably damaging Het
Gm11559 T A 11: 99,755,755 (GRCm39) S135T unknown Het
Gm14496 A T 2: 181,637,946 (GRCm39) D340V probably benign Het
Grin2a T C 16: 9,810,259 (GRCm39) T47A possibly damaging Het
Gtf2ird1 A T 5: 134,395,790 (GRCm39) probably null Het
Herc4 T A 10: 63,081,680 (GRCm39) M1K probably null Het
Hirip3 T A 7: 126,461,792 (GRCm39) V29E probably damaging Het
Hs3st5 A G 10: 36,708,720 (GRCm39) D85G probably benign Het
Htt T A 5: 35,064,543 (GRCm39) S2981T probably damaging Het
Iho1 A C 9: 108,282,111 (GRCm39) S526A possibly damaging Het
Il20ra G A 10: 19,635,384 (GRCm39) V542I probably damaging Het
Itgb2l C A 16: 96,226,282 (GRCm39) C603F probably damaging Het
Klhl41 A C 2: 69,501,146 (GRCm39) K202N probably benign Het
Lct G A 1: 128,255,679 (GRCm39) S121F possibly damaging Het
Lhx6 C T 2: 35,977,387 (GRCm39) G355D probably damaging Het
Limk2 A G 11: 3,308,236 (GRCm39) V121A probably benign Het
Med1 T G 11: 98,048,109 (GRCm39) K896Q probably damaging Het
Muc6 A G 7: 141,214,371 (GRCm39) F2789S probably benign Het
Nrap A G 19: 56,367,590 (GRCm39) S296P probably benign Het
Nrxn1 T C 17: 90,896,252 (GRCm39) N961D probably damaging Het
Odad2 T C 18: 7,286,743 (GRCm39) T163A probably benign Het
Or1r1 A C 11: 73,874,673 (GRCm39) S254A probably benign Het
Or6c207 A T 10: 129,105,112 (GRCm39) F27I probably benign Het
Or6y1 T C 1: 174,276,303 (GRCm39) V38A probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdk4 T A 6: 5,489,166 (GRCm39) H247L probably damaging Het
Pkd1l3 T A 8: 110,359,237 (GRCm39) V866E probably damaging Het
Pla2g4e G A 2: 119,998,955 (GRCm39) P803L probably damaging Het
Pnisr T C 4: 21,860,968 (GRCm39) V217A possibly damaging Het
Pole4 G A 6: 82,629,720 (GRCm39) P34L unknown Het
Pole4 G T 6: 82,629,721 (GRCm39) P34T unknown Het
Ptchd3 G A 11: 121,732,377 (GRCm39) W422* probably null Het
Rab1b C T 19: 5,150,513 (GRCm39) A167T probably benign Het
Rasal1 T C 5: 120,802,821 (GRCm39) M359T probably benign Het
Rexo4 T C 2: 26,850,248 (GRCm39) N310D probably benign Het
Rgma C T 7: 73,067,585 (GRCm39) T280M probably damaging Het
Rnaset2a A T 17: 8,364,408 (GRCm39) I43N probably damaging Het
Rtcb A T 10: 85,778,446 (GRCm39) V399E probably damaging Het
Scd4 T G 19: 44,326,013 (GRCm39) Y122* probably null Het
Sirt6 T C 10: 81,462,355 (GRCm39) I15V possibly damaging Het
Slamf8 A T 1: 172,415,526 (GRCm39) V104E possibly damaging Het
Slc12a4 A G 8: 106,678,475 (GRCm39) I285T possibly damaging Het
Slc25a13 G A 6: 6,115,104 (GRCm39) A207V possibly damaging Het
Slc6a21 T C 7: 44,930,155 (GRCm39) S185P probably benign Het
Smarcc2 A C 10: 128,299,740 (GRCm39) N135T probably damaging Het
Susd6 T C 12: 80,921,065 (GRCm39) S221P probably damaging Het
Syne1 C T 10: 4,990,975 (GRCm39) G8418D probably damaging Het
Tasor2 T C 13: 3,640,559 (GRCm39) K193E possibly damaging Het
Tbc1d7 C T 13: 43,318,853 (GRCm39) V95I probably benign Het
Tcerg1l T C 7: 137,963,595 (GRCm39) D225G probably benign Het
Tfip11 A T 5: 112,477,263 (GRCm39) I82F possibly damaging Het
Tmem41a C T 16: 21,755,731 (GRCm39) G192S probably null Het
Trrap G A 5: 144,790,396 (GRCm39) A3619T possibly damaging Het
Tspoap1 G A 11: 87,656,707 (GRCm39) probably null Het
Wfdc21 T C 11: 83,637,883 (GRCm39) S11P probably benign Het
Zc2hc1b A T 10: 13,044,474 (GRCm39) V63E probably damaging Het
Other mutations in Nemf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CAGCTGTAAGGAGAGCACAC -3'
(R):5'- GGGTTCTACTACTCAACAGCAC -3'

Sequencing Primer
(F):5'- GCACACAAGAATGTACTTCTGG -3'
(R):5'- GTTCTACTACTCAACAGCACCCCTC -3'
Posted On 2014-06-23