Incidental Mutation 'ANU05:Nmt2'
ID |
262466 |
Institutional Source |
Beutler Lab
|
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 # |
ANU05
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
3285249-3329914 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 3315731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 240
(S240R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081932]
[ENSMUST00000091504]
[ENSMUST00000102989]
|
AlphaFold |
O70311 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081932
AA Change: S271R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000080600 Gene: ENSMUSG00000026643 AA Change: S271R
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 benign
Transcript: ENSMUST00000091504
AA Change: S227R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000089085 Gene: ENSMUSG00000026643 AA Change: S227R
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 benign
Transcript: ENSMUST00000102989
AA Change: S240R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000100054 Gene: ENSMUSG00000026643 AA Change: S240R
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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,206,678 (GRCm39) |
K1513E |
probably damaging |
Het |
Acacb |
T |
A |
5: 114,363,931 (GRCm39) |
F1464Y |
probably benign |
Het |
Adgrg6 |
G |
A |
10: 14,286,274 (GRCm39) |
A1114V |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,566,438 (GRCm39) |
I975T |
possibly damaging |
Het |
Akap7 |
T |
C |
10: 25,147,451 (GRCm39) |
H93R |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,640,481 (GRCm39) |
W1213R |
probably benign |
Het |
Ccar1 |
T |
A |
10: 62,592,428 (GRCm39) |
E708V |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,186,265 (GRCm39) |
S787P |
possibly damaging |
Het |
Col6a3 |
G |
A |
1: 90,730,014 (GRCm39) |
T1157I |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,772,862 (GRCm39) |
S464P |
probably benign |
Het |
Dusp19 |
A |
G |
2: 80,454,618 (GRCm39) |
T113A |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,615,538 (GRCm39) |
Y2957S |
probably benign |
Het |
Epdr1 |
T |
C |
13: 19,778,814 (GRCm39) |
Y94C |
probably damaging |
Het |
Fcho1 |
A |
T |
8: 72,165,191 (GRCm39) |
L422Q |
probably benign |
Het |
Gca |
T |
A |
2: 62,520,787 (GRCm39) |
Y210* |
probably null |
Het |
Gpnmb |
T |
C |
6: 49,032,615 (GRCm39) |
V513A |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,415,786 (GRCm39) |
T192A |
probably damaging |
Het |
Isca1 |
T |
C |
13: 59,906,785 (GRCm39) |
T54A |
probably benign |
Het |
Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
L3mbtl1 |
T |
C |
2: 162,812,100 (GRCm39) |
V715A |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,045,865 (GRCm39) |
D257N |
probably damaging |
Het |
Lgr5 |
T |
C |
10: 115,314,439 (GRCm39) |
H166R |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,289,218 (GRCm39) |
R9G |
probably benign |
Het |
Npas3 |
A |
G |
12: 54,114,857 (GRCm39) |
E593G |
possibly damaging |
Het |
Or8k30 |
G |
A |
2: 86,339,513 (GRCm39) |
A237T |
possibly damaging |
Het |
Pank4 |
T |
C |
4: 155,059,103 (GRCm39) |
M412T |
probably damaging |
Het |
Psd |
A |
G |
19: 46,303,186 (GRCm39) |
V100A |
possibly damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,235,087 (GRCm39) |
T28A |
probably damaging |
Het |
Rnpepl1 |
A |
T |
1: 92,847,468 (GRCm39) |
D685V |
probably benign |
Het |
Rrad |
T |
C |
8: 105,357,283 (GRCm39) |
E88G |
probably benign |
Het |
Sdk2 |
T |
A |
11: 113,733,906 (GRCm39) |
M846L |
probably benign |
Het |
Sparcl1 |
A |
T |
5: 104,242,581 (GRCm39) |
V36E |
possibly damaging |
Het |
Spmip5 |
A |
T |
19: 58,777,545 (GRCm39) |
H80Q |
probably damaging |
Het |
Srrm4 |
C |
T |
5: 116,605,628 (GRCm39) |
E210K |
unknown |
Het |
Stk25 |
A |
T |
1: 93,551,145 (GRCm39) |
|
probably null |
Het |
Tacr3 |
A |
T |
3: 134,635,810 (GRCm39) |
Y338F |
probably damaging |
Het |
Tap2 |
A |
T |
17: 34,428,184 (GRCm39) |
Q286L |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tubgcp5 |
C |
A |
7: 55,458,277 (GRCm39) |
A396E |
possibly damaging |
Het |
Ube2o |
T |
C |
11: 116,430,960 (GRCm39) |
D980G |
probably damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,433 (GRCm39) |
M98V |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,513,935 (GRCm39) |
H236L |
probably benign |
Het |
Zfp521 |
T |
C |
18: 13,950,303 (GRCm39) |
H1217R |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,601,779 (GRCm39) |
F110I |
probably benign |
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 |
IGL01871:Nmt2
|
APN |
2 |
3,313,711 (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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCGGTCTGAGCTTGCAAAGTG -3'
(R):5'- GCAAGATGGTAGTAAGCAACACCCC -3'
Sequencing Primer
(F):5'- TGAGCTTGCAAAGTGCCTAC -3'
(R):5'- ccccatcccaccccatc -3'
|
Posted On |
2015-02-04 |