Incidental Mutation 'R7129:Nmi'
ID 552497
Institutional Source Beutler Lab
Gene Symbol Nmi
Ensembl Gene ENSMUSG00000026946
Gene Name N-myc (and STAT) interactor
Synonyms
MMRRC Submission 045214-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R7129 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 51838510-51863505 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 51845936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028314] [ENSMUST00000112705] [ENSMUST00000142868] [ENSMUST00000145481] [ENSMUST00000145656]
AlphaFold O35309
Predicted Effect probably null
Transcript: ENSMUST00000028314
SMART Domains Protein: ENSMUSP00000028314
Gene: ENSMUSG00000026946

DomainStartEndE-ValueType
Pfam:IFP_35_N 30 105 7.6e-39 PFAM
Pfam:NID 106 193 3.7e-49 PFAM
Pfam:NID 204 292 1.8e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112705
SMART Domains Protein: ENSMUSP00000108325
Gene: ENSMUSG00000026946

DomainStartEndE-ValueType
Pfam:IFP_35_N 30 105 7.6e-39 PFAM
Pfam:NID 106 193 3.7e-49 PFAM
Pfam:NID 204 292 1.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142868
SMART Domains Protein: ENSMUSP00000115428
Gene: ENSMUSG00000026946

DomainStartEndE-ValueType
Pfam:NID 1 26 3e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000145481
SMART Domains Protein: ENSMUSP00000120647
Gene: ENSMUSG00000026946

DomainStartEndE-ValueType
Pfam:IFP_35_N 30 105 3.7e-41 PFAM
Pfam:NID 106 193 7.3e-34 PFAM
Pfam:NID 204 292 2.9e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145656
SMART Domains Protein: ENSMUSP00000122318
Gene: ENSMUSG00000026946

DomainStartEndE-ValueType
Pfam:IFP_35_N 30 75 1.3e-22 PFAM
Meta Mutation Damage Score 0.9591 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,209,199 (GRCm39) E443G probably damaging Het
2700049A03Rik A G 12: 71,263,004 (GRCm39) probably null Het
3110082I17Rik A G 5: 139,349,738 (GRCm39) Y104H probably damaging Het
Abcg4 T C 9: 44,190,681 (GRCm39) K282E probably benign Het
Adamts17 T C 7: 66,770,758 (GRCm39) S956P probably damaging Het
Adh1 T C 3: 137,986,235 (GRCm39) V74A probably damaging Het
Akt1 A T 12: 112,626,083 (GRCm39) M63K probably benign Het
Arfrp1 G A 2: 181,001,344 (GRCm39) R177* probably null Het
Arl11 A G 14: 61,548,346 (GRCm39) E52G possibly damaging Het
BC051019 T C 7: 109,319,825 (GRCm39) S10G Het
Bfsp2 T A 9: 103,357,118 (GRCm39) E103V probably damaging Het
Bms1 G T 6: 118,380,122 (GRCm39) C728* probably null Het
Cachd1 T G 4: 100,775,263 (GRCm39) N159K probably null Het
Cd38 A G 5: 44,067,651 (GRCm39) N294S probably benign Het
Cfap54 T C 10: 92,852,433 (GRCm39) N891S probably benign Het
Chsy3 A T 18: 59,543,370 (GRCm39) H836L probably damaging Het
Cldn16 A T 16: 26,301,388 (GRCm39) D232V probably damaging Het
Dhx33 A T 11: 70,884,689 (GRCm39) I425N probably damaging Het
Dock4 A G 12: 40,878,878 (GRCm39) N1506D probably damaging Het
Dok7 T C 5: 35,236,392 (GRCm39) S227P probably damaging Het
Elf2 T C 3: 51,168,432 (GRCm39) R201G probably damaging Het
Elp1 T C 4: 56,787,944 (GRCm39) H329R probably damaging Het
Etaa1 T C 11: 17,890,339 (GRCm39) R841G possibly damaging Het
Exoc4 T C 6: 33,948,934 (GRCm39) Y926H probably damaging Het
Fras1 A G 5: 96,929,143 (GRCm39) H3849R probably benign Het
Hapln3 C T 7: 78,771,572 (GRCm39) G106R probably damaging Het
Hmcn1 A C 1: 150,452,961 (GRCm39) probably null Het
Ifitm7 A T 16: 13,801,600 (GRCm39) I53N possibly damaging Het
Il6ra T C 3: 89,778,554 (GRCm39) N433D probably damaging Het
Iqch C T 9: 63,329,191 (GRCm39) V1048I probably benign Het
Kif20a A G 18: 34,765,588 (GRCm39) T862A probably benign Het
Mcrs1 G A 15: 99,146,609 (GRCm39) L141F probably damaging Het
Nkx3-2 A G 5: 41,919,017 (GRCm39) S324P probably damaging Het
Nufip1 A G 14: 76,372,325 (GRCm39) K480E possibly damaging Het
Oit3 T A 10: 59,264,166 (GRCm39) I323F probably damaging Het
Or2ag17 T C 7: 106,389,690 (GRCm39) K173E probably benign Het
Or5b98 A T 19: 12,931,478 (GRCm39) H175L possibly damaging Het
Pcdha11 A G 18: 37,140,291 (GRCm39) E640G probably benign Het
Phip C T 9: 82,759,353 (GRCm39) V1366I probably damaging Het
Plin5 T C 17: 56,422,174 (GRCm39) M162V probably null Het
Podxl2 A G 6: 88,820,487 (GRCm39) probably null Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Rab4a A T 8: 124,554,069 (GRCm39) D40V probably benign Het
Scn7a A G 2: 66,530,537 (GRCm39) F603L probably benign Het
Slfn5 A T 11: 82,851,976 (GRCm39) K701* probably null Het
Speer4f2 A G 5: 17,582,446 (GRCm39) D223G Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Tas2r117 A T 6: 132,780,350 (GRCm39) T163S probably benign Het
Tecta T C 9: 42,259,287 (GRCm39) D1532G probably damaging Het
Tmem63a T C 1: 180,782,441 (GRCm39) I146T probably damaging Het
Ttn C A 2: 76,646,515 (GRCm39) G12844W probably damaging Het
Usp22 T C 11: 61,053,775 (GRCm39) I190V probably damaging Het
Usp24 T C 4: 106,219,412 (GRCm39) I536T probably damaging Het
Vmn1r23 A G 6: 57,903,061 (GRCm39) V239A possibly damaging Het
Vmn1r9 A C 6: 57,048,611 (GRCm39) T229P probably damaging Het
Zbtb21 AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC 16: 97,752,887 (GRCm39) probably benign Het
Zbtb8a G C 4: 129,254,188 (GRCm39) A102G probably damaging Het
Zfp51 T C 17: 21,681,971 (GRCm39) W57R probably damaging Het
Other mutations in Nmi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01967:Nmi APN 2 51,846,052 (GRCm39) splice site probably null
IGL02041:Nmi APN 2 51,850,641 (GRCm39) missense possibly damaging 0.72
IGL02299:Nmi APN 2 51,848,976 (GRCm39) missense probably damaging 1.00
IGL03144:Nmi APN 2 51,842,546 (GRCm39) missense probably damaging 1.00
R1589:Nmi UTSW 2 51,848,989 (GRCm39) missense possibly damaging 0.62
R1961:Nmi UTSW 2 51,838,632 (GRCm39) missense probably benign 0.01
R2114:Nmi UTSW 2 51,838,719 (GRCm39) missense probably benign 0.30
R2115:Nmi UTSW 2 51,838,719 (GRCm39) missense probably benign 0.30
R2116:Nmi UTSW 2 51,838,719 (GRCm39) missense probably benign 0.30
R2151:Nmi UTSW 2 51,842,555 (GRCm39) missense probably damaging 1.00
R2153:Nmi UTSW 2 51,842,555 (GRCm39) missense probably damaging 1.00
R3964:Nmi UTSW 2 51,846,081 (GRCm39) missense possibly damaging 0.85
R4195:Nmi UTSW 2 51,838,632 (GRCm39) missense probably benign 0.00
R4650:Nmi UTSW 2 51,838,646 (GRCm39) missense probably benign 0.33
R6573:Nmi UTSW 2 51,840,081 (GRCm39) missense possibly damaging 0.55
R7369:Nmi UTSW 2 51,840,096 (GRCm39) missense possibly damaging 0.85
R7520:Nmi UTSW 2 51,842,492 (GRCm39) missense probably benign 0.02
R8774:Nmi UTSW 2 51,848,974 (GRCm39) missense probably benign 0.01
R8774-TAIL:Nmi UTSW 2 51,848,974 (GRCm39) missense probably benign 0.01
R9216:Nmi UTSW 2 51,846,003 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTGGTGCCCCTAATGCTTGG -3'
(R):5'- GTACTGTCATTGGAAGGCCTTAAG -3'

Sequencing Primer
(F):5'- GGTTTCCTTCTCTGTAAATTGAGAC -3'
(R):5'- GGAAGGCCTTAAGTTATATCTTGC -3'
Posted On 2019-05-15