Incidental Mutation 'IGL03144:Nmi'
ID 410824
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: 0.086) question?
Stock # IGL03144
Quality Score
Status
Chromosome 2
Chromosomal Location 51838510-51863505 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51842546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 182 (F182Y)
Ref Sequence ENSEMBL: ENSMUSP00000120647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028314] [ENSMUST00000112705] [ENSMUST00000142868] [ENSMUST00000145481] [ENSMUST00000145656]
AlphaFold O35309
Predicted Effect probably damaging
Transcript: ENSMUST00000028314
AA Change: F182Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028314
Gene: ENSMUSG00000026946
AA Change: F182Y

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 damaging
Transcript: ENSMUST00000112705
AA Change: F182Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108325
Gene: ENSMUSG00000026946
AA Change: F182Y

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 possibly damaging
Transcript: ENSMUST00000142868
AA Change: F15Y

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115428
Gene: ENSMUSG00000026946
AA Change: F15Y

DomainStartEndE-ValueType
Pfam:NID 1 26 3e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145481
AA Change: F182Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120647
Gene: ENSMUSG00000026946
AA Change: F182Y

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C A 17: 24,600,938 (GRCm39) Q451K probably benign Het
Acly A T 11: 100,405,909 (GRCm39) D294E possibly damaging Het
Arid3a C T 10: 79,782,316 (GRCm39) probably benign Het
Ascc3 T C 10: 50,643,539 (GRCm39) V1830A probably benign Het
Atp6v1b1 T C 6: 83,735,333 (GRCm39) V467A probably benign Het
Ccdc171 A T 4: 83,736,327 (GRCm39) I1233L probably damaging Het
Ccdc74a C A 16: 17,466,730 (GRCm39) Q146K possibly damaging Het
Cdh26 A G 2: 178,109,967 (GRCm39) D420G probably damaging Het
Ceacam20 T C 7: 19,705,444 (GRCm39) V145A possibly damaging Het
Cmya5 C A 13: 93,227,376 (GRCm39) A2571S probably damaging Het
Cog2 T C 8: 125,267,763 (GRCm39) S360P probably damaging Het
Col26a1 G T 5: 136,794,202 (GRCm39) T132N probably damaging Het
Col6a2 T A 10: 76,450,259 (GRCm39) H224L probably benign Het
Cpm C T 10: 117,519,319 (GRCm39) S409L probably benign Het
Dock4 G T 12: 40,742,906 (GRCm39) probably benign Het
Dpy19l2 T A 9: 24,557,603 (GRCm39) N391Y possibly damaging Het
Exosc9 G A 3: 36,608,284 (GRCm39) G126D probably damaging Het
Eya3 T C 4: 132,420,453 (GRCm39) S256P probably benign Het
Fat3 T C 9: 16,286,541 (GRCm39) D994G probably damaging Het
Fat4 A G 3: 39,011,008 (GRCm39) Q2036R possibly damaging Het
Fryl T C 5: 73,258,798 (GRCm39) Q662R probably null Het
Gm13271 A G 4: 88,673,636 (GRCm39) R178G probably benign Het
Gpr165 T A X: 95,760,560 (GRCm39) L279Q probably damaging Het
Htr1b A G 9: 81,513,998 (GRCm39) L203P probably damaging Het
Kcnb2 T C 1: 15,780,112 (GRCm39) L328P probably damaging Het
Klhl26 C T 8: 70,905,214 (GRCm39) R198H probably damaging Het
Nhsl2 A G X: 101,123,115 (GRCm39) R973G possibly damaging Het
Nop2 T A 6: 125,114,475 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Ooep G T 9: 78,285,289 (GRCm39) A109E possibly damaging Het
Or1j21 A G 2: 36,684,093 (GRCm39) T282A probably benign Het
Pan3 T C 5: 147,387,591 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,467,459 (GRCm39) N127D probably damaging Het
Rabgap1 G A 2: 37,430,544 (GRCm39) R695H probably damaging Het
Rxrg G A 1: 167,426,327 (GRCm39) G3R possibly damaging Het
Slc17a3 T C 13: 24,030,423 (GRCm39) M178T probably benign Het
Slc39a8 A G 3: 135,589,971 (GRCm39) E287G probably benign Het
Slc44a5 G T 3: 153,949,177 (GRCm39) D217Y possibly damaging Het
Slc4a10 G T 2: 62,080,810 (GRCm39) V346L probably benign Het
Slc9a4 T C 1: 40,651,362 (GRCm39) Y547H probably damaging Het
St6galnac3 A C 3: 152,911,164 (GRCm39) Y266D probably damaging Het
Stard6 A T 18: 70,609,182 (GRCm39) Y3F possibly damaging Het
Stk25 C A 1: 93,556,858 (GRCm39) L53F probably damaging Het
Tep1 A T 14: 51,081,474 (GRCm39) probably benign Het
Tmem151a T A 19: 5,135,400 (GRCm39) M1L probably benign Het
Trim10 T C 17: 37,187,740 (GRCm39) S319P probably damaging Het
Trmt44 G T 5: 35,721,766 (GRCm39) P466T probably benign Het
Unc79 T C 12: 103,008,401 (GRCm39) I256T probably damaging Het
Vmn2r125 G T 4: 156,702,314 (GRCm39) L33F possibly 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
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 2016-08-02