Incidental Mutation 'IGL01406:Naa20'
| ID |
79813 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Naa20
|
| Ensembl Gene |
ENSMUSG00000002728 |
| Gene Name |
N(alpha)-acetyltransferase 20, NatB catalytic subunit |
| Synonyms |
D2Ertd186e, 1500004D14Rik, Nat5, 2900026I01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
IGL01406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
145744019-145758345 bp(+) (GRCm39) |
| Type of Mutation |
splice site (249 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 145757726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001818]
[ENSMUST00000002805]
[ENSMUST00000110000]
[ENSMUST00000149461]
[ENSMUST00000150316]
[ENSMUST00000169732]
[ENSMUST00000165635]
|
| AlphaFold |
P61600 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001818
|
| SMART Domains |
Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
52 |
N/A |
INTRINSIC |
|
HAT
|
61 |
93 |
4.57e-2 |
SMART |
|
HAT
|
95 |
127 |
3.48e-7 |
SMART |
|
HAT
|
129 |
161 |
3.33e-4 |
SMART |
|
HAT
|
163 |
194 |
2.48e-3 |
SMART |
|
HAT
|
196 |
227 |
1.32e-7 |
SMART |
|
HAT
|
229 |
264 |
2.11e-6 |
SMART |
|
HAT
|
266 |
300 |
2.07e0 |
SMART |
|
Blast:HAT
|
310 |
342 |
1e-13 |
BLAST |
|
HAT
|
344 |
378 |
3.88e-5 |
SMART |
|
HAT
|
388 |
424 |
6.86e-6 |
SMART |
|
HAT
|
426 |
457 |
1.92e2 |
SMART |
|
HAT
|
459 |
491 |
1.29e-1 |
SMART |
|
HAT
|
493 |
527 |
2e-7 |
SMART |
|
HAT
|
529 |
560 |
8.07e-3 |
SMART |
|
coiled coil region
|
566 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002805
AA Change: M162V
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002805
Gene: ENSMUSG00000002728
AA Change: M162V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_7
|
40 |
140 |
2.1e-8 |
PFAM |
|
Pfam:Acetyltransf_1
|
48 |
139 |
4.3e-15 |
PFAM |
|
Pfam:FR47
|
67 |
148 |
3.6e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110000
AA Change: M152V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105627
Gene: ENSMUSG00000002728
AA Change: M152V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_10
|
26 |
128 |
5.9e-8 |
PFAM |
|
Pfam:Acetyltransf_7
|
40 |
130 |
5.1e-10 |
PFAM |
|
Pfam:Acetyltransf_1
|
48 |
129 |
8.3e-18 |
PFAM |
|
Pfam:FR47
|
55 |
138 |
7.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149461
|
| SMART Domains |
Protein: ENSMUSP00000127918
Gene: ENSMUSG00000002728
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1cjwa_
|
3 |
73 |
5e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150316
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169732
|
| SMART Domains |
Protein: ENSMUSP00000132857
Gene: ENSMUSG00000002728
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_1
|
40 |
112 |
2.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165635
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,180,212 (GRCm39) |
Q558* |
probably null |
Het |
| Adam29 |
A |
T |
8: 56,324,874 (GRCm39) |
Y527N |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,351,046 (GRCm39) |
*3067W |
probably null |
Het |
| B3galt2 |
A |
T |
1: 143,522,844 (GRCm39) |
I327L |
possibly damaging |
Het |
| Cadm2 |
C |
A |
16: 66,612,192 (GRCm39) |
|
probably null |
Het |
| Cd6 |
G |
T |
19: 10,768,501 (GRCm39) |
A496E |
possibly damaging |
Het |
| Cdh16 |
A |
T |
8: 105,345,044 (GRCm39) |
I415N |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,798,622 (GRCm39) |
N188S |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,268,898 (GRCm39) |
D980G |
probably damaging |
Het |
| Dmgdh |
G |
A |
13: 93,823,539 (GRCm39) |
|
probably benign |
Het |
| Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,243,374 (GRCm39) |
S917P |
probably damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,085,516 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gm3115 |
T |
A |
14: 4,087,137 (GRCm38) |
|
probably benign |
Het |
| Hnf1b |
C |
T |
11: 83,779,950 (GRCm39) |
P402S |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,508,300 (GRCm39) |
R341* |
probably null |
Het |
| Krt75 |
T |
C |
15: 101,476,460 (GRCm39) |
Y435C |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,367,539 (GRCm39) |
Y578H |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,566,836 (GRCm39) |
D565G |
probably damaging |
Het |
| Pgap1 |
C |
T |
1: 54,572,573 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
G |
A |
6: 140,518,676 (GRCm39) |
R172H |
probably damaging |
Het |
| Snx17 |
A |
G |
5: 31,353,338 (GRCm39) |
Y77C |
probably damaging |
Het |
| Spdye4b |
C |
T |
5: 143,188,166 (GRCm39) |
P220S |
probably benign |
Het |
| Tbx18 |
T |
A |
9: 87,595,596 (GRCm39) |
D326V |
probably damaging |
Het |
| Tlr12 |
A |
T |
4: 128,510,132 (GRCm39) |
L706* |
probably null |
Het |
| Tnfrsf21 |
T |
A |
17: 43,348,837 (GRCm39) |
C150S |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,042,352 (GRCm39) |
D1187G |
possibly damaging |
Het |
| Trav5-1 |
T |
C |
14: 52,860,444 (GRCm39) |
L83P |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,812,500 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Naa20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03205:Naa20
|
APN |
2 |
145,745,251 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0485:Naa20
|
UTSW |
2 |
145,757,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Naa20
|
UTSW |
2 |
145,754,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2161:Naa20
|
UTSW |
2 |
145,753,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4651:Naa20
|
UTSW |
2 |
145,753,752 (GRCm39) |
intron |
probably benign |
|
|
R5044:Naa20
|
UTSW |
2 |
145,757,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Naa20
|
UTSW |
2 |
145,745,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation