Incidental Mutation 'IGL01541:Naa35'
| ID |
90151 |
| 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 # |
IGL01541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
59733147-59782612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59748777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 132
(H132Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022038]
[ENSMUST00000164011]
[ENSMUST00000166923]
[ENSMUST00000168367]
[ENSMUST00000172419]
|
| AlphaFold |
Q6PHQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022038
AA Change: H136Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022038
Gene: ENSMUSG00000021555
AA Change: H136Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000163521
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164011
AA Change: H58Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127270
Gene: ENSMUSG00000021555
AA Change: H58Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
1 |
119 |
1.9e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166923
AA Change: H136Q
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128097
Gene: ENSMUSG00000021555
AA Change: H136Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
44 |
188 |
1.1e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168367
|
| SMART Domains |
Protein: ENSMUSP00000127466
Gene: ENSMUSG00000021555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
44 |
111 |
3.1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172419
AA Change: H132Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126079
Gene: ENSMUSG00000021555
AA Change: H132Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
40 |
193 |
1.2e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225670
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,762,205 (GRCm39) |
S505G |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,985,243 (GRCm39) |
H2176Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,572 (GRCm39) |
D2544Y |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,350,283 (GRCm39) |
F88L |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,723 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,708,907 (GRCm39) |
V1251A |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,129,955 (GRCm39) |
F273I |
possibly damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,965 (GRCm39) |
C104R |
probably damaging |
Het |
| Ercc3 |
A |
T |
18: 32,381,372 (GRCm39) |
D396V |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,940,014 (GRCm39) |
D556V |
probably damaging |
Het |
| Frg1 |
C |
T |
8: 41,863,362 (GRCm39) |
|
probably benign |
Het |
| Fto |
T |
C |
8: 92,136,376 (GRCm39) |
Y217H |
probably damaging |
Het |
| Garin4 |
A |
T |
1: 190,896,606 (GRCm39) |
Y12* |
probably null |
Het |
| Grin3a |
A |
T |
4: 49,792,533 (GRCm39) |
V400E |
probably damaging |
Het |
| Gtse1 |
T |
A |
15: 85,759,855 (GRCm39) |
L682* |
probably null |
Het |
| Igkv6-32 |
A |
G |
6: 70,051,290 (GRCm39) |
I22T |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,215,905 (GRCm39) |
C35R |
probably damaging |
Het |
| Lzts3 |
A |
T |
2: 130,478,126 (GRCm39) |
L324Q |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,236,069 (GRCm39) |
R453* |
probably null |
Het |
| Pgm5 |
C |
A |
19: 24,793,777 (GRCm39) |
G296W |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,805,272 (GRCm39) |
C3275S |
probably damaging |
Het |
| Podxl2 |
A |
G |
6: 88,826,331 (GRCm39) |
L325P |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,371,050 (GRCm39) |
|
probably null |
Het |
| Rab12 |
T |
C |
17: 66,804,404 (GRCm39) |
S185G |
probably damaging |
Het |
| Rnf43 |
T |
G |
11: 87,621,046 (GRCm39) |
M313R |
probably null |
Het |
| Rusc2 |
T |
C |
4: 43,415,840 (GRCm39) |
V382A |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,516,618 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,816,770 (GRCm39) |
I10T |
probably benign |
Het |
| Smpd1 |
T |
C |
7: 105,205,033 (GRCm39) |
F304S |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,044,725 (GRCm39) |
V1454I |
probably benign |
Het |
| Tdrd7 |
A |
T |
4: 46,018,551 (GRCm39) |
I722F |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,262,364 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,807,502 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,778 (GRCm39) |
M169I |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,257 (GRCm39) |
S789G |
unknown |
Het |
| Zfp629 |
G |
T |
7: 127,211,917 (GRCm39) |
|
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,230,156 (GRCm39) |
R123I |
probably benign |
Het |
|
| Other mutations in Naa35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Naa35
|
APN |
13 |
59,777,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation