Incidental Mutation 'R6208:Nom1'
ID 503256
Institutional Source Beutler Lab
Gene Symbol Nom1
Ensembl Gene ENSMUSG00000001569
Gene Name nucleolar protein with MIF4G domain 1
Synonyms LOC381627, D5Kng1, Gm1040
MMRRC Submission 044342-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6208 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 29637338-29658504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29654617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 773 (H773L)
Ref Sequence ENSEMBL: ENSMUSP00000001611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001611]
AlphaFold Q3UFM5
Predicted Effect possibly damaging
Transcript: ENSMUST00000001611
AA Change: H773L

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001611
Gene: ENSMUSG00000001569
AA Change: H773L

DomainStartEndE-ValueType
low complexity region 79 98 N/A INTRINSIC
low complexity region 102 114 N/A INTRINSIC
low complexity region 119 147 N/A INTRINSIC
coiled coil region 170 197 N/A INTRINSIC
low complexity region 227 250 N/A INTRINSIC
low complexity region 311 326 N/A INTRINSIC
MIF4G 356 553 1.1e-21 SMART
MA3 649 755 1.59e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146347
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign Het
Other mutations in Nom1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Nom1 APN 5 29,651,272 (GRCm39) missense possibly damaging 0.74
IGL01795:Nom1 APN 5 29,651,869 (GRCm39) missense probably benign 0.06
IGL02308:Nom1 APN 5 29,642,708 (GRCm39) missense probably damaging 1.00
IGL02378:Nom1 APN 5 29,656,124 (GRCm39) nonsense probably null
IGL02506:Nom1 APN 5 29,644,814 (GRCm39) splice site probably benign
R0633:Nom1 UTSW 5 29,656,098 (GRCm39) missense probably damaging 1.00
R0652:Nom1 UTSW 5 29,640,309 (GRCm39) missense probably damaging 1.00
R1571:Nom1 UTSW 5 29,647,633 (GRCm39) nonsense probably null
R1707:Nom1 UTSW 5 29,640,316 (GRCm39) missense probably damaging 0.99
R1852:Nom1 UTSW 5 29,651,876 (GRCm39) missense possibly damaging 0.46
R2025:Nom1 UTSW 5 29,651,849 (GRCm39) missense probably damaging 1.00
R2196:Nom1 UTSW 5 29,641,019 (GRCm39) missense probably benign 0.00
R2207:Nom1 UTSW 5 29,644,972 (GRCm39) missense probably damaging 1.00
R2256:Nom1 UTSW 5 29,642,750 (GRCm39) missense probably damaging 1.00
R2257:Nom1 UTSW 5 29,642,750 (GRCm39) missense probably damaging 1.00
R2680:Nom1 UTSW 5 29,648,415 (GRCm39) missense probably damaging 1.00
R3439:Nom1 UTSW 5 29,640,615 (GRCm39) missense probably benign 0.01
R4291:Nom1 UTSW 5 29,651,370 (GRCm39) critical splice donor site probably null
R4587:Nom1 UTSW 5 29,656,163 (GRCm39) missense possibly damaging 0.91
R5374:Nom1 UTSW 5 29,646,377 (GRCm39) missense probably damaging 1.00
R5761:Nom1 UTSW 5 29,642,639 (GRCm39) missense probably damaging 1.00
R5772:Nom1 UTSW 5 29,651,873 (GRCm39) missense possibly damaging 0.81
R5828:Nom1 UTSW 5 29,640,124 (GRCm39) missense possibly damaging 0.53
R5963:Nom1 UTSW 5 29,642,768 (GRCm39) missense probably damaging 1.00
R7234:Nom1 UTSW 5 29,640,451 (GRCm39) missense probably benign 0.01
R7476:Nom1 UTSW 5 29,647,534 (GRCm39) missense probably benign 0.29
R8848:Nom1 UTSW 5 29,645,137 (GRCm39) missense probably damaging 1.00
R9018:Nom1 UTSW 5 29,639,712 (GRCm39) missense possibly damaging 0.53
R9284:Nom1 UTSW 5 29,647,532 (GRCm39) missense probably damaging 0.99
R9390:Nom1 UTSW 5 29,639,766 (GRCm39) missense probably benign
R9608:Nom1 UTSW 5 29,642,750 (GRCm39) missense probably damaging 1.00
R9681:Nom1 UTSW 5 29,642,623 (GRCm39) missense probably damaging 0.99
Z1177:Nom1 UTSW 5 29,654,676 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GATCCCCACTGCATTGTAGC -3'
(R):5'- GCAGCTGTGAATGGAAGTCC -3'

Sequencing Primer
(F):5'- TGCATTGTAGCTCACAGCCTAGG -3'
(R):5'- GTCCAAGGATCTAGCAGTTACTCAG -3'
Posted On 2018-02-27