Incidental Mutation 'IGL00929:Nmt1'
| ID |
28537 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nmt1
|
| Ensembl Gene |
ENSMUSG00000020936 |
| Gene Name |
N-myristoyltransferase 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102919163-102959734 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 102950902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021314]
[ENSMUST00000021314]
[ENSMUST00000021314]
|
| AlphaFold |
O70310 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021314
|
| SMART Domains |
Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
67 |
N/A |
INTRINSIC |
|
Pfam:NMT
|
137 |
294 |
6.7e-77 |
PFAM |
|
Pfam:NMT_C
|
308 |
495 |
1.4e-85 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021314
|
| SMART Domains |
Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
67 |
N/A |
INTRINSIC |
|
Pfam:NMT
|
137 |
294 |
6.7e-77 |
PFAM |
|
Pfam:NMT_C
|
308 |
495 |
1.4e-85 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021314
|
| SMART Domains |
Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
67 |
N/A |
INTRINSIC |
|
Pfam:NMT
|
137 |
294 |
6.7e-77 |
PFAM |
|
Pfam:NMT_C
|
308 |
495 |
1.4e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181125
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality between E3.5 and E7.5. Heterozygotes show partial prenatal lethality. Mice homozygous for a conditional allele knocked out in T cells exhibit reduced T cell, double positive T cell and single positive T cell numbers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
A |
T |
12: 30,954,899 (GRCm39) |
H67Q |
probably damaging |
Het |
| Ankrd13b |
A |
G |
11: 77,363,578 (GRCm39) |
S247P |
probably damaging |
Het |
| Aqp4 |
C |
T |
18: 15,526,656 (GRCm39) |
G275E |
probably benign |
Het |
| Arhgef15 |
A |
T |
11: 68,844,928 (GRCm39) |
L223Q |
probably damaging |
Het |
| Asb13 |
A |
G |
13: 3,699,427 (GRCm39) |
Y209C |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,046,257 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
G |
A |
1: 115,988,004 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,159,648 (GRCm39) |
M1V |
probably null |
Het |
| Dab2ip |
A |
T |
2: 35,598,889 (GRCm39) |
M137L |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Lemd1 |
A |
G |
1: 132,184,447 (GRCm39) |
D73G |
probably benign |
Het |
| Lpin1 |
G |
A |
12: 16,623,700 (GRCm39) |
S228L |
probably benign |
Het |
| Mtcl3 |
C |
A |
10: 29,024,288 (GRCm39) |
N401K |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,780,946 (GRCm39) |
L48P |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,893,529 (GRCm39) |
|
probably null |
Het |
| Ndc1 |
T |
A |
4: 107,246,694 (GRCm39) |
N372K |
probably benign |
Het |
| Ndufa2 |
A |
G |
18: 36,877,228 (GRCm39) |
|
probably benign |
Het |
| Or52s1 |
A |
T |
7: 102,861,892 (GRCm39) |
H264L |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,758 (GRCm39) |
Y489H |
probably damaging |
Het |
| Rttn |
A |
T |
18: 89,047,059 (GRCm39) |
K907M |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,716,025 (GRCm39) |
Y979C |
probably damaging |
Het |
| Spag6l |
C |
T |
16: 16,584,877 (GRCm39) |
A424T |
possibly damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,233 (GRCm39) |
I266N |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,637 (GRCm39) |
L1600P |
probably benign |
Het |
| Tiam1 |
T |
A |
16: 89,591,627 (GRCm39) |
I1358F |
probably damaging |
Het |
| Usp37 |
G |
T |
1: 74,529,313 (GRCm39) |
T122N |
probably benign |
Het |
| Vit |
T |
C |
17: 78,886,830 (GRCm39) |
S153P |
probably damaging |
Het |
|
| Other mutations in Nmt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02058:Nmt1
|
APN |
11 |
102,943,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02582:Nmt1
|
APN |
11 |
102,955,625 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
cropped
|
UTSW |
11 |
102,947,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Nmt1
|
UTSW |
11 |
102,937,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:Nmt1
|
UTSW |
11 |
102,948,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1827:Nmt1
|
UTSW |
11 |
102,955,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Nmt1
|
UTSW |
11 |
102,943,077 (GRCm39) |
missense |
probably benign |
|
|
R2199:Nmt1
|
UTSW |
11 |
102,954,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Nmt1
|
UTSW |
11 |
102,943,059 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4373:Nmt1
|
UTSW |
11 |
102,934,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4648:Nmt1
|
UTSW |
11 |
102,954,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Nmt1
|
UTSW |
11 |
102,949,041 (GRCm39) |
nonsense |
probably null |
|
|
R6908:Nmt1
|
UTSW |
11 |
102,949,080 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7315:Nmt1
|
UTSW |
11 |
102,951,009 (GRCm39) |
missense |
probably benign |
|
|
R7473:Nmt1
|
UTSW |
11 |
102,937,226 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7504:Nmt1
|
UTSW |
11 |
102,947,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8548:Nmt1
|
UTSW |
11 |
102,934,052 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8913:Nmt1
|
UTSW |
11 |
102,948,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Nmt1
|
UTSW |
11 |
102,919,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Nmt1
|
UTSW |
11 |
102,946,039 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2013-04-17 |
Incidental Mutation