Incidental Mutation 'IGL02506:Nom1'
ID 296366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nom1
Ensembl Gene ENSMUSG00000001569
Gene Name nucleolar protein with MIF4G domain 1
Synonyms LOC381627, D5Kng1, Gm1040
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02506
Quality Score
Status
Chromosome 5
Chromosomal Location 29637338-29658504 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 29644814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001611]
AlphaFold Q3UFM5
Predicted Effect probably benign
Transcript: ENSMUST00000001611
SMART Domains Protein: ENSMUSP00000001611
Gene: ENSMUSG00000001569

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
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,916 (GRCm39) E189G possibly damaging Het
Acad11 T C 9: 103,968,931 (GRCm39) probably null Het
Adcy7 G T 8: 89,044,571 (GRCm39) R488L probably damaging Het
Akt1 C T 12: 112,625,714 (GRCm39) probably benign Het
Ano9 C T 7: 140,682,167 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,953,820 (GRCm39) D182G possibly damaging Het
Asxl3 T A 18: 22,585,456 (GRCm39) V127D probably benign Het
Cacna1g A G 11: 94,319,955 (GRCm39) M1407T probably damaging Het
Card9 A C 2: 26,244,427 (GRCm39) probably benign Het
Cdh5 A G 8: 104,864,454 (GRCm39) N472D probably damaging Het
Ceacam2 T A 7: 25,227,379 (GRCm39) T343S probably benign Het
Cic T A 7: 24,990,282 (GRCm39) C1928S probably benign Het
Clk3 C T 9: 57,661,927 (GRCm39) W31* probably null Het
Cntn4 A G 6: 106,595,349 (GRCm39) T489A probably benign Het
Crispld1 G A 1: 17,826,529 (GRCm39) R431H probably damaging Het
Crmp1 T A 5: 37,436,199 (GRCm39) probably benign Het
Cyld A G 8: 89,456,218 (GRCm39) T423A possibly damaging Het
Cyp3a44 A T 5: 145,736,198 (GRCm39) I84N probably damaging Het
D2hgdh A G 1: 93,757,507 (GRCm39) N141D probably damaging Het
Dip2b T A 15: 100,055,162 (GRCm39) L341Q probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fam227b T A 2: 125,845,831 (GRCm39) Y386F probably benign Het
Fmn1 A T 2: 113,355,640 (GRCm39) T694S unknown Het
Gcnt2 T A 13: 41,040,856 (GRCm39) V5E probably benign Het
Herpud1 G T 8: 95,121,270 (GRCm39) E355* probably null Het
Igf1r T C 7: 67,843,144 (GRCm39) S752P probably benign Het
Iqsec1 T C 6: 90,649,057 (GRCm39) I687V possibly damaging Het
Kdm5a T C 6: 120,409,110 (GRCm39) S1598P probably damaging Het
Klk1b9 A G 7: 43,445,063 (GRCm39) E185G probably benign Het
Myo16 G T 8: 10,440,217 (GRCm39) R423L probably damaging Het
Myo7b T C 18: 32,100,207 (GRCm39) E1609G probably damaging Het
Nomo1 A G 7: 45,727,480 (GRCm39) I1040V possibly damaging Het
Or8b39 G A 9: 37,996,741 (GRCm39) G203D probably damaging Het
Paqr9 T C 9: 95,442,748 (GRCm39) V246A probably benign Het
Pfkfb4 A T 9: 108,859,404 (GRCm39) D437V probably benign Het
Phldb1 G T 9: 44,622,223 (GRCm39) D797E probably benign Het
Pkd1l3 A G 8: 110,374,132 (GRCm39) E1399G probably damaging Het
Plekhs1 G A 19: 56,460,198 (GRCm39) C97Y probably damaging Het
Plscr4 A T 9: 92,372,044 (GRCm39) I272L possibly damaging Het
Prlhr A C 19: 60,456,366 (GRCm39) Y67D probably damaging Het
Rab3gap2 A G 1: 184,984,221 (GRCm39) probably benign Het
Rad23b T C 4: 55,382,511 (GRCm39) V238A probably benign Het
Sel1l2 T C 2: 140,117,380 (GRCm39) T164A possibly damaging Het
Serpinh1 T A 7: 98,996,199 (GRCm39) K295M probably damaging Het
Slc45a4 T C 15: 73,453,687 (GRCm39) E770G probably benign Het
Spag4 T C 2: 155,911,142 (GRCm39) L390P probably damaging Het
Stip1 A G 19: 7,012,857 (GRCm39) probably benign Het
Tacr1 A G 6: 82,380,739 (GRCm39) N50S probably damaging Het
Tg T C 15: 66,613,443 (GRCm39) V433A possibly damaging Het
Ubap1l T A 9: 65,276,493 (GRCm39) probably benign Het
Usp40 A T 1: 87,909,738 (GRCm39) I572K probably damaging Het
Vps13b G T 15: 35,917,308 (GRCm39) E3717D probably damaging Het
Wdr81 T C 11: 75,335,232 (GRCm39) N1778S probably benign Het
Ylpm1 T A 12: 85,095,965 (GRCm39) F1162Y probably damaging Het
Zbtb10 T A 3: 9,330,297 (GRCm39) F552I probably damaging Het
Zfp507 T C 7: 35,475,891 (GRCm39) I811V probably damaging Het
Zfp663 A T 2: 165,195,871 (GRCm39) V116D 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
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
R6208:Nom1 UTSW 5 29,654,617 (GRCm39) missense possibly damaging 0.83
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
Posted On 2015-04-16