Incidental Mutation 'IGL00476:Naa35'
| ID |
12750 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Naa35
|
| Ensembl Gene |
ENSMUSG00000021555 |
| Gene Name |
N(alpha)-acetyltransferase 35, NatC auxiliary subunit |
| Synonyms |
Mak10, A330027C19Rik, C030004C14Rik, A330021G12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL00476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
59733147-59782612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59777869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 610
(D610G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022038]
[ENSMUST00000022039]
[ENSMUST00000095739]
[ENSMUST00000165253]
|
| AlphaFold |
Q6PHQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022038
AA Change: D610G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022038
Gene: ENSMUSG00000021555
AA Change: D610G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
45 |
145 |
2.2e-29 |
PFAM |
|
Pfam:Mak10
|
141 |
194 |
3.7e-10 |
PFAM |
|
low complexity region
|
561 |
568 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022039
|
| SMART Domains |
Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095739
|
| SMART Domains |
Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165129
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224194
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
| Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
| Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
| Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
| Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
| Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
| Other mutations in Naa35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Naa35
|
APN |
13 |
59,778,485 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01335:Naa35
|
APN |
13 |
59,764,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01385:Naa35
|
APN |
13 |
59,748,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01541:Naa35
|
APN |
13 |
59,748,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02129:Naa35
|
APN |
13 |
59,757,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02867:Naa35
|
APN |
13 |
59,756,668 (GRCm39) |
intron |
probably benign |
|
|
IGL02966:Naa35
|
APN |
13 |
59,734,085 (GRCm39) |
missense |
probably benign |
|
|
IGL03260:Naa35
|
APN |
13 |
59,775,699 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0312:Naa35
|
UTSW |
13 |
59,757,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0557:Naa35
|
UTSW |
13 |
59,775,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1553:Naa35
|
UTSW |
13 |
59,766,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1611:Naa35
|
UTSW |
13 |
59,776,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1676:Naa35
|
UTSW |
13 |
59,760,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3709:Naa35
|
UTSW |
13 |
59,765,846 (GRCm39) |
splice site |
probably benign |
|
|
R3896:Naa35
|
UTSW |
13 |
59,755,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Naa35
|
UTSW |
13 |
59,773,345 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5647:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5649:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5650:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5656:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R6734:Naa35
|
UTSW |
13 |
59,756,005 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6735:Naa35
|
UTSW |
13 |
59,773,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6985:Naa35
|
UTSW |
13 |
59,775,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7165:Naa35
|
UTSW |
13 |
59,733,997 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7531:Naa35
|
UTSW |
13 |
59,765,755 (GRCm39) |
nonsense |
probably null |
|
|
R7713:Naa35
|
UTSW |
13 |
59,745,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7739:Naa35
|
UTSW |
13 |
59,747,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Naa35
|
UTSW |
13 |
59,734,036 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8818:Naa35
|
UTSW |
13 |
59,748,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Naa35
|
UTSW |
13 |
59,775,775 (GRCm39) |
missense |
probably benign |
|
|
R9006:Naa35
|
UTSW |
13 |
59,748,842 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9132:Naa35
|
UTSW |
13 |
59,772,341 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9403:Naa35
|
UTSW |
13 |
59,748,817 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Posted On |
2012-12-06 |
Incidental Mutation