Incidental Mutation 'R3439:Nom1'
ID 267308
Institutional Source Beutler Lab
Gene Symbol Nom1
Ensembl Gene ENSMUSG00000001569
Gene Name nucleolar protein with MIF4G domain 1
Synonyms LOC381627, D5Kng1, Gm1040
MMRRC Submission 040657-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3439 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 29637338-29658504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29640615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 314 (S314P)
Ref Sequence ENSEMBL: ENSMUSP00000001611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001611]
AlphaFold Q3UFM5
Predicted Effect probably benign
Transcript: ENSMUST00000001611
AA Change: S314P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000001611
Gene: ENSMUSG00000001569
AA Change: S314P

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
Meta Mutation Damage Score 0.0700 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (30/30)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agxt2 C A 15: 10,381,511 (GRCm39) P255Q probably benign Het
Cdcp3 T C 7: 130,790,508 (GRCm39) probably null Het
Dnah10 T C 5: 124,873,322 (GRCm39) Y2458H possibly damaging Het
Dnhd1 A G 7: 105,343,992 (GRCm39) T1779A probably damaging Het
Glb1l A T 1: 75,179,264 (GRCm39) C222S probably damaging Het
Gnb1l A G 16: 18,371,117 (GRCm39) T203A probably benign Het
Helq T C 5: 100,946,170 (GRCm39) E57G probably damaging Het
Kng2 T C 16: 22,830,821 (GRCm39) I163V probably benign Het
Larp7-ps A C 4: 92,079,919 (GRCm39) V23G possibly damaging Het
Lingo1 T C 9: 56,528,017 (GRCm39) T191A probably benign Het
Lrrc37a G A 11: 103,388,690 (GRCm39) T2245I unknown Het
Med13 T C 11: 86,176,123 (GRCm39) D1624G probably damaging Het
Mthfsd A G 8: 121,825,860 (GRCm39) V218A possibly damaging Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Nwd2 G A 5: 63,961,895 (GRCm39) R493H probably benign Het
Or4f58 T C 2: 111,851,792 (GRCm39) M136V possibly damaging Het
Or5an11 A T 19: 12,245,759 (GRCm39) H55L possibly damaging Het
Palm C T 10: 79,652,618 (GRCm39) probably benign Het
Pitpnm1 A G 19: 4,162,752 (GRCm39) E1115G probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prrc2b T C 2: 32,096,359 (GRCm39) F577L probably benign Het
Rnpepl1 A T 1: 92,844,662 (GRCm39) T385S possibly damaging Het
Serpinb7 A T 1: 107,356,081 (GRCm39) I35F probably damaging Het
Srbd1 C T 17: 86,365,187 (GRCm39) S623N probably benign Het
Tchh A G 3: 93,354,700 (GRCm39) E1380G unknown Het
Tet2 G T 3: 133,172,592 (GRCm39) A1890D possibly damaging Het
Tfr2 G T 5: 137,572,913 (GRCm39) V215F probably benign Het
Vpreb3 C T 10: 75,779,056 (GRCm39) probably benign Het
Vwde T A 6: 13,208,374 (GRCm39) L169F probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCTTGGAGAGTGACCTAGAGAG -3'
(R):5'- CCCATGAGAACTTGGAGCAG -3'

Sequencing Primer
(F):5'- TTGGAGAGTGACCTAGAGAGCAATTC -3'
(R):5'- CGAAGTGAAGCTCTATGATTGCC -3'
Posted On 2015-02-18