Incidental Mutation 'IGL01871:Nmt2'
ID |
178707 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nmt2
|
Ensembl Gene |
ENSMUSG00000026643 |
Gene Name |
N-myristoyltransferase 2 |
Synonyms |
hNMT-2, A930001K02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
IGL01871
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
3285249-3329914 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3313711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 175
(Y175H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081932]
[ENSMUST00000091504]
[ENSMUST00000102989]
|
AlphaFold |
O70311 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081932
AA Change: Y206H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080600 Gene: ENSMUSG00000026643 AA Change: Y206H
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
low complexity region
|
46 |
58 |
N/A |
INTRINSIC |
Pfam:NMT
|
170 |
327 |
1e-78 |
PFAM |
Pfam:NMT_C
|
341 |
528 |
2.9e-83 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091504
AA Change: Y162H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000089085 Gene: ENSMUSG00000026643 AA Change: Y162H
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
Pfam:NMT
|
124 |
283 |
2e-84 |
PFAM |
Pfam:NMT_C
|
297 |
484 |
1.4e-87 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102989
AA Change: Y175H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100054 Gene: ENSMUSG00000026643 AA Change: Y175H
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
low complexity region
|
46 |
58 |
N/A |
INTRINSIC |
Pfam:NMT
|
137 |
296 |
7.8e-85 |
PFAM |
Pfam:NMT_C
|
310 |
497 |
6.4e-88 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two N-myristoyltransferase proteins. N-terminal myristoylation is a lipid modification that is involved in regulating the function and localization of signaling proteins. The encoded protein catalyzes the addition of a myristoyl group to the N-terminal glycine residue of many signaling proteins, including the human immunodeficiency virus type 1 (HIV-1) proteins, Gag and Nef. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] PHENOTYPE: 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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,620,513 (GRCm39) |
|
probably null |
Het |
Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
Asxl2 |
G |
T |
12: 3,552,112 (GRCm39) |
V1285L |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,202,561 (GRCm39) |
S688T |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,846,311 (GRCm39) |
I357F |
probably damaging |
Het |
Clasp1 |
A |
T |
1: 118,498,619 (GRCm39) |
I884F |
probably damaging |
Het |
Cpne4 |
T |
G |
9: 104,802,956 (GRCm39) |
M200R |
possibly damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,288,086 (GRCm39) |
D180V |
probably damaging |
Het |
Dicer1 |
A |
T |
12: 104,670,439 (GRCm39) |
V1042D |
probably damaging |
Het |
Dlc1 |
G |
A |
8: 37,317,334 (GRCm39) |
T447I |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,412,527 (GRCm39) |
M972T |
possibly damaging |
Het |
Erbin |
A |
G |
13: 103,971,274 (GRCm39) |
S781P |
probably damaging |
Het |
Galnt4 |
G |
A |
10: 98,945,103 (GRCm39) |
G276D |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gmppa |
A |
G |
1: 75,413,661 (GRCm39) |
I41V |
probably damaging |
Het |
Golga1 |
C |
T |
2: 38,940,210 (GRCm39) |
|
probably benign |
Het |
H2-Ob |
G |
T |
17: 34,461,519 (GRCm39) |
W86L |
probably damaging |
Het |
Hnrnpr |
G |
A |
4: 136,066,885 (GRCm39) |
R482H |
unknown |
Het |
L2hgdh |
T |
C |
12: 69,768,869 (GRCm39) |
E81G |
probably damaging |
Het |
Mre11a |
T |
C |
9: 14,723,193 (GRCm39) |
V389A |
possibly damaging |
Het |
Mxra8 |
A |
G |
4: 155,927,258 (GRCm39) |
T372A |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,845,923 (GRCm39) |
S593R |
probably benign |
Het |
Ndufaf1 |
C |
T |
2: 119,488,768 (GRCm39) |
W250* |
probably null |
Het |
Neb |
T |
C |
2: 52,043,081 (GRCm39) |
E6783G |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,489,924 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,946,964 (GRCm39) |
M812L |
probably damaging |
Het |
Pou2f3 |
A |
G |
9: 43,045,768 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,028,704 (GRCm39) |
T392A |
possibly damaging |
Het |
Rhov |
G |
T |
2: 119,101,219 (GRCm39) |
Q71K |
probably benign |
Het |
Slc22a15 |
T |
C |
3: 101,768,110 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
T |
A |
4: 34,040,894 (GRCm39) |
N22Y |
probably damaging |
Het |
Stmnd1 |
A |
G |
13: 46,443,189 (GRCm39) |
E107G |
probably damaging |
Het |
Tent5b |
A |
G |
4: 133,213,620 (GRCm39) |
I164V |
possibly damaging |
Het |
Timm22 |
T |
C |
11: 76,298,263 (GRCm39) |
V78A |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,676,993 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
C |
8: 107,638,949 (GRCm39) |
K419T |
probably benign |
Het |
Zfp410 |
T |
C |
12: 84,372,565 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Nmt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00783:Nmt2
|
APN |
2 |
3,315,846 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00784:Nmt2
|
APN |
2 |
3,315,846 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02617:Nmt2
|
APN |
2 |
3,315,750 (GRCm39) |
missense |
probably benign |
0.15 |
Faul
|
UTSW |
2 |
3,306,341 (GRCm39) |
splice site |
probably null |
|
ANU05:Nmt2
|
UTSW |
2 |
3,315,731 (GRCm39) |
missense |
probably benign |
|
R0278:Nmt2
|
UTSW |
2 |
3,326,424 (GRCm39) |
missense |
probably benign |
0.00 |
R0524:Nmt2
|
UTSW |
2 |
3,306,474 (GRCm39) |
missense |
probably benign |
|
R0743:Nmt2
|
UTSW |
2 |
3,315,822 (GRCm39) |
nonsense |
probably null |
|
R0884:Nmt2
|
UTSW |
2 |
3,315,822 (GRCm39) |
nonsense |
probably null |
|
R1895:Nmt2
|
UTSW |
2 |
3,323,672 (GRCm39) |
missense |
probably benign |
0.11 |
R1946:Nmt2
|
UTSW |
2 |
3,323,672 (GRCm39) |
missense |
probably benign |
0.11 |
R1957:Nmt2
|
UTSW |
2 |
3,326,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2037:Nmt2
|
UTSW |
2 |
3,310,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R2656:Nmt2
|
UTSW |
2 |
3,308,050 (GRCm39) |
missense |
probably benign |
|
R3422:Nmt2
|
UTSW |
2 |
3,285,425 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3835:Nmt2
|
UTSW |
2 |
3,315,723 (GRCm39) |
splice site |
probably benign |
|
R3955:Nmt2
|
UTSW |
2 |
3,313,535 (GRCm39) |
missense |
probably benign |
0.00 |
R4701:Nmt2
|
UTSW |
2 |
3,323,678 (GRCm39) |
missense |
probably benign |
|
R5032:Nmt2
|
UTSW |
2 |
3,285,429 (GRCm39) |
missense |
probably benign |
|
R6373:Nmt2
|
UTSW |
2 |
3,325,988 (GRCm39) |
missense |
probably benign |
0.05 |
R6396:Nmt2
|
UTSW |
2 |
3,315,738 (GRCm39) |
missense |
probably benign |
0.18 |
R6410:Nmt2
|
UTSW |
2 |
3,317,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R6863:Nmt2
|
UTSW |
2 |
3,306,341 (GRCm39) |
splice site |
probably null |
|
R6865:Nmt2
|
UTSW |
2 |
3,315,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R7100:Nmt2
|
UTSW |
2 |
3,313,950 (GRCm39) |
missense |
probably benign |
|
R7139:Nmt2
|
UTSW |
2 |
3,285,352 (GRCm39) |
missense |
probably benign |
0.01 |
R7516:Nmt2
|
UTSW |
2 |
3,313,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R9098:Nmt2
|
UTSW |
2 |
3,306,315 (GRCm39) |
intron |
probably benign |
|
R9581:Nmt2
|
UTSW |
2 |
3,317,212 (GRCm39) |
missense |
possibly damaging |
0.80 |
X0067:Nmt2
|
UTSW |
2 |
3,325,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-05-07 |