Incidental Mutation 'IGL02299:Nmi'
| ID |
290233 |
| 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)
|
| Stock # |
IGL02299
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
51838510-51863505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51848976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 38
(N38I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028314]
[ENSMUST00000112705]
[ENSMUST00000145481]
[ENSMUST00000145656]
|
| AlphaFold |
O35309 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028314
AA Change: N38I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028314
Gene: ENSMUSG00000026946
AA Change: N38I
| Domain | Start | End | E-Value | Type |
|---|
|
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: N38I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108325
Gene: ENSMUSG00000026946
AA Change: N38I
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000145481
AA Change: N38I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120647
Gene: ENSMUSG00000026946
AA Change: N38I
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000145656
AA Change: N38I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122318
Gene: ENSMUSG00000026946
AA Change: N38I
| Domain | Start | End | E-Value | Type |
|---|
|
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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
C |
T |
12: 84,105,585 (GRCm39) |
Q351* |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,143,812 (GRCm39) |
H993L |
possibly damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,338,286 (GRCm39) |
|
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,619,015 (GRCm39) |
I13T |
probably damaging |
Het |
| Clasp2 |
T |
A |
9: 113,709,057 (GRCm39) |
D633E |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,770,316 (GRCm39) |
E23G |
probably damaging |
Het |
| Dnah3 |
G |
T |
7: 119,566,802 (GRCm39) |
L2475I |
probably benign |
Het |
| Fscn2 |
A |
G |
11: 120,253,025 (GRCm39) |
D164G |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,881,755 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,874,482 (GRCm39) |
S1629T |
probably benign |
Het |
| Mpp4 |
C |
A |
1: 59,197,738 (GRCm39) |
|
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,390,370 (GRCm39) |
L226M |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,796,978 (GRCm39) |
S909P |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,043,755 (GRCm39) |
W126R |
probably benign |
Het |
| Pcdhb5 |
T |
C |
18: 37,453,943 (GRCm39) |
F108L |
probably benign |
Het |
| Plxna4 |
G |
A |
6: 32,142,091 (GRCm39) |
P1589S |
probably benign |
Het |
| Qtrt1 |
A |
G |
9: 21,323,245 (GRCm39) |
E32G |
probably benign |
Het |
| S100a3 |
A |
G |
3: 90,509,562 (GRCm39) |
E69G |
possibly damaging |
Het |
| Slc1a6 |
C |
A |
10: 78,629,137 (GRCm39) |
P185T |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,361,998 (GRCm39) |
I274F |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,340,752 (GRCm39) |
N468S |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,078,128 (GRCm39) |
L1567P |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,390,174 (GRCm39) |
S424L |
probably benign |
Het |
| Urgcp |
A |
G |
11: 5,667,573 (GRCm39) |
L255P |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,815 (GRCm39) |
K359N |
probably benign |
Het |
| Xpo1 |
T |
A |
11: 23,243,915 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nmi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-04-16 |
Incidental Mutation