Incidental Mutation 'IGL02041:Nmi'
ID 184737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmi
Ensembl Gene ENSMUSG00000026946
Gene Name N-myc (and STAT) interactor
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02041
Quality Score
Status
Chromosome 2
Chromosomal Location 51838510-51863505 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 51850641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 9 (K9T)
Ref Sequence ENSEMBL: ENSMUSP00000122318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028314] [ENSMUST00000112705] [ENSMUST00000145481] [ENSMUST00000145656]
AlphaFold O35309
Predicted Effect probably benign
Transcript: ENSMUST00000028314
AA Change: K9T

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028314
Gene: ENSMUSG00000026946
AA Change: K9T

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: ENSMUST00000112705
AA Change: K9T

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108325
Gene: ENSMUSG00000026946
AA Change: K9T

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 noncoding transcript
Transcript: ENSMUST00000123521
Predicted Effect probably benign
Transcript: ENSMUST00000145481
AA Change: K9T

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120647
Gene: ENSMUSG00000026946
AA Change: K9T

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 possibly damaging
Transcript: ENSMUST00000145656
AA Change: K9T

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122318
Gene: ENSMUSG00000026946
AA Change: K9T

DomainStartEndE-ValueType
Pfam:IFP_35_N 30 75 1.3e-22 PFAM
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,772,674 (GRCm39) Q28L probably damaging Het
Abtb3 G A 10: 85,223,418 (GRCm39) D76N unknown Het
Afg1l A G 10: 42,330,376 (GRCm39) V97A probably damaging Het
Akap6 A C 12: 53,187,436 (GRCm39) S1617R probably damaging Het
Aldh1a3 T C 7: 66,057,579 (GRCm39) N285D probably damaging Het
Arhgap20 A T 9: 51,757,490 (GRCm39) N494I possibly damaging Het
Atg9a G T 1: 75,159,748 (GRCm39) Q712K possibly damaging Het
Cdcp2 G A 4: 106,964,386 (GRCm39) probably benign Het
Cds2 T A 2: 132,136,363 (GRCm39) I84N possibly damaging Het
Clcn3 T C 8: 61,376,187 (GRCm39) I596V probably damaging Het
Ctxn1 A G 8: 4,308,514 (GRCm39) L39P probably damaging Het
Efhb A T 17: 53,733,287 (GRCm39) V528D probably damaging Het
Fmod T G 1: 133,968,001 (GRCm39) S14A probably benign Het
Foxh1 A G 15: 76,553,120 (GRCm39) F198S probably damaging Het
Gcc2 A G 10: 58,105,103 (GRCm39) E77G probably damaging Het
Gm5420 G T 10: 21,566,933 (GRCm39) noncoding transcript Het
Gm6434 T G 7: 25,581,655 (GRCm39) noncoding transcript Het
Il1b A T 2: 129,211,662 (GRCm39) N19K possibly damaging Het
Lama2 T A 10: 26,860,322 (GRCm39) D3055V probably damaging Het
Lcn3 G A 2: 25,655,636 (GRCm39) V18I probably benign Het
Lpcat2 A G 8: 93,644,809 (GRCm39) S533G probably benign Het
Map4k2 G A 19: 6,401,348 (GRCm39) R606Q probably benign Het
Mtnr1b T C 9: 15,774,589 (GRCm39) T157A probably benign Het
Myo15a G A 11: 60,397,689 (GRCm39) E2705K probably damaging Het
Ncf2 A G 1: 152,711,871 (GRCm39) probably benign Het
Nfkbil1 G A 17: 35,439,934 (GRCm39) T193M probably benign Het
Or2d4 T C 7: 106,543,320 (GRCm39) D296G possibly damaging Het
Or5p69 T C 7: 107,966,742 (GRCm39) F15S probably damaging Het
Or6c6c A G 10: 129,541,104 (GRCm39) D119G probably damaging Het
Osbpl7 T A 11: 96,951,334 (GRCm39) C502S probably benign Het
Pex5 A T 6: 124,382,240 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,356,452 (GRCm39) probably null Het
Prmt3 C T 7: 49,478,711 (GRCm39) T424M possibly damaging Het
Rapgef4 G A 2: 72,029,140 (GRCm39) G404D probably damaging Het
Rbm5 C T 9: 107,633,045 (GRCm39) probably benign Het
Rfc2 T A 5: 134,623,098 (GRCm39) F238L probably benign Het
Rsl1 A G 13: 67,324,612 (GRCm39) E46G probably damaging Het
Sall1 A G 8: 89,758,097 (GRCm39) F669S probably damaging Het
Sipa1l2 A G 8: 126,218,558 (GRCm39) S260P probably benign Het
Slc26a8 A G 17: 28,861,225 (GRCm39) Y820H probably damaging Het
Tas2r115 A G 6: 132,714,430 (GRCm39) F174L probably benign Het
Terb1 A C 8: 105,221,746 (GRCm39) C185G probably damaging Het
Vmn2r108 A T 17: 20,683,398 (GRCm39) V602E probably damaging Het
Vmn2r58 T A 7: 41,514,703 (GRCm39) I89F probably damaging Het
Vps13b G T 15: 35,423,391 (GRCm39) R237L probably damaging Het
Zfp865 T C 7: 5,034,372 (GRCm39) S786P probably benign Het
Other mutations in Nmi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01967:Nmi APN 2 51,846,052 (GRCm39) splice site probably null
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
R7129:Nmi UTSW 2 51,845,936 (GRCm39) critical splice donor site probably null
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
Posted On 2014-05-07