Incidental Mutation 'R3955:Nmt2'
| ID |
310625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nmt2
|
| Ensembl Gene |
ENSMUSG00000026643 |
| Gene Name |
N-myristoyltransferase 2 |
| Synonyms |
hNMT-2, A930001K02Rik |
| MMRRC Submission |
040832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R3955 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3285249-3329914 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3313535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 132
(D132G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081932]
[ENSMUST00000091504]
[ENSMUST00000102989]
|
| AlphaFold |
O70311 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081932
AA Change: D176G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080600
Gene: ENSMUSG00000026643
AA Change: D176G
| 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: D132G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000089085
Gene: ENSMUSG00000026643
AA Change: D132G
| 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: D145G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100054
Gene: ENSMUSG00000026643
AA Change: D145G
| 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 |
|
| Meta Mutation Damage Score |
0.2566 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,834 (GRCm39) |
T1008A |
probably benign |
Het |
| Abcc5 |
G |
C |
16: 20,224,293 (GRCm39) |
H97D |
probably damaging |
Het |
| Acbd7 |
T |
C |
2: 3,337,250 (GRCm39) |
S2P |
probably benign |
Het |
| Acta2 |
G |
T |
19: 34,229,126 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Ajm1 |
G |
T |
2: 25,467,583 (GRCm39) |
S776* |
probably null |
Het |
| Ccnq |
C |
A |
11: 78,641,849 (GRCm39) |
E214* |
probably null |
Het |
| Cd69 |
A |
T |
6: 129,245,343 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dscc1 |
T |
C |
15: 54,946,949 (GRCm39) |
T259A |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,582,432 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
| Insyn1 |
A |
T |
9: 58,406,906 (GRCm39) |
D272V |
probably damaging |
Het |
| Krt20 |
G |
A |
11: 99,323,037 (GRCm39) |
Q262* |
probably null |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lmod2 |
G |
T |
6: 24,603,870 (GRCm39) |
V282L |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,578,642 (GRCm39) |
I228T |
probably damaging |
Het |
| Matn1 |
G |
A |
4: 130,678,726 (GRCm39) |
|
probably null |
Het |
| Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Obscn |
G |
A |
11: 58,927,594 (GRCm39) |
S6118F |
probably damaging |
Het |
| Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
| Or1j21 |
T |
A |
2: 36,683,565 (GRCm39) |
L106M |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,774,172 (GRCm39) |
M96L |
possibly damaging |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Qrfprl |
A |
T |
6: 65,430,092 (GRCm39) |
I263L |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,862,254 (GRCm39) |
Q675R |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
| Sergef |
T |
A |
7: 46,268,176 (GRCm39) |
E210V |
possibly damaging |
Het |
| Sik3 |
C |
A |
9: 46,109,891 (GRCm39) |
N541K |
probably damaging |
Het |
| Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
| Tbc1d14 |
G |
A |
5: 36,700,559 (GRCm39) |
R270* |
probably null |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tdp2 |
C |
T |
13: 25,020,082 (GRCm39) |
T123I |
probably benign |
Het |
| Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
| Tmf1 |
C |
A |
6: 97,153,167 (GRCm39) |
R302L |
probably damaging |
Het |
| Tnip3 |
A |
T |
6: 65,574,379 (GRCm39) |
T137S |
possibly damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
| Zfp677 |
A |
G |
17: 21,618,079 (GRCm39) |
K379E |
possibly damaging |
Het |
| Zfp865 |
T |
A |
7: 5,035,013 (GRCm39) |
D999E |
probably damaging |
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 |
|
|
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 |
|
|
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'- TGACGTGACATACAGTTCCC -3'
(R):5'- AGCAACGTATACAGCTCCTTC -3'
Sequencing Primer
(F):5'- ACGTGACATACAGTTCCCCCTTG -3'
(R):5'- GCTCCTTCAGCTACAAGACAAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation