Incidental Mutation 'IGL03064:Naa16'
| ID |
409597 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Naa16
|
| Ensembl Gene |
ENSMUSG00000022020 |
| Gene Name |
N(alpha)-acetyltransferase 16, NatA auxiliary subunit |
| Synonyms |
1300019C06Rik, Narg1l |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL03064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
79571947-79628228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79577068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 735
(Q735H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022597]
[ENSMUST00000163486]
|
| AlphaFold |
Q9DBB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022597
AA Change: Q735H
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: Q735H
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
46 |
79 |
2.99e1 |
SMART |
|
TPR
|
80 |
113 |
2.98e-3 |
SMART |
|
Blast:TPR
|
224 |
257 |
1e-10 |
BLAST |
|
TPR
|
374 |
407 |
9.96e0 |
SMART |
|
TPR
|
408 |
441 |
7.47e0 |
SMART |
|
low complexity region
|
616 |
633 |
N/A |
INTRINSIC |
|
Blast:TPR
|
672 |
705 |
3e-12 |
BLAST |
|
low complexity region
|
830 |
841 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163486
|
| SMART Domains |
Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
12 |
45 |
2.99e1 |
SMART |
|
TPR
|
46 |
79 |
2.98e-3 |
SMART |
|
Blast:TPR
|
190 |
223 |
3e-10 |
BLAST |
|
TPR
|
340 |
373 |
9.96e0 |
SMART |
|
TPR
|
374 |
407 |
7.47e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227775
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,174,864 (GRCm39) |
T210A |
probably damaging |
Het |
| Adgb |
T |
A |
10: 10,276,316 (GRCm39) |
T351S |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,018,755 (GRCm39) |
H1112R |
probably damaging |
Het |
| Angptl6 |
A |
T |
9: 20,786,939 (GRCm39) |
Y261* |
probably null |
Het |
| Arhgef10l |
A |
C |
4: 140,306,590 (GRCm39) |
F395V |
probably damaging |
Het |
| Bub1 |
T |
C |
2: 127,659,373 (GRCm39) |
N328S |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,039,731 (GRCm39) |
N1186D |
probably damaging |
Het |
| Cacna2d2 |
C |
A |
9: 107,386,474 (GRCm39) |
F200L |
probably damaging |
Het |
| Calca |
G |
A |
7: 114,232,919 (GRCm39) |
S110L |
probably benign |
Het |
| Ccdc120 |
G |
A |
X: 7,601,601 (GRCm39) |
P263S |
probably benign |
Het |
| Dcaf8l |
A |
G |
X: 88,448,857 (GRCm39) |
V424A |
possibly damaging |
Het |
| Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| F5 |
A |
T |
1: 164,023,163 (GRCm39) |
T1574S |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,968,762 (GRCm39) |
|
probably null |
Het |
| Gm20521 |
T |
A |
14: 55,134,680 (GRCm39) |
S301T |
possibly damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,787,287 (GRCm39) |
I239N |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,663,514 (GRCm39) |
E163D |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,086,099 (GRCm39) |
Y1446F |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,572,406 (GRCm39) |
T537M |
possibly damaging |
Het |
| Lars1 |
G |
T |
18: 42,354,636 (GRCm39) |
Y770* |
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,313,477 (GRCm39) |
V2418E |
probably damaging |
Het |
| Maip1 |
A |
G |
1: 57,446,359 (GRCm39) |
E143G |
probably damaging |
Het |
| Mast4 |
G |
T |
13: 102,897,472 (GRCm39) |
S739* |
probably null |
Het |
| Mctp1 |
C |
T |
13: 76,949,632 (GRCm39) |
Q555* |
probably null |
Het |
| Med14 |
A |
T |
X: 12,613,742 (GRCm39) |
D291E |
probably benign |
Het |
| Mgat2 |
T |
A |
12: 69,231,777 (GRCm39) |
V117D |
probably damaging |
Het |
| Mllt1 |
A |
T |
17: 57,207,094 (GRCm39) |
M250K |
probably benign |
Het |
| Myt1 |
A |
C |
2: 181,439,594 (GRCm39) |
Y372S |
probably benign |
Het |
| Ncf4 |
A |
G |
15: 78,135,102 (GRCm39) |
Y53C |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,148,934 (GRCm39) |
K180N |
probably benign |
Het |
| Nova1 |
A |
G |
12: 46,746,861 (GRCm39) |
V472A |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,847,315 (GRCm39) |
T705A |
probably benign |
Het |
| Odf2 |
T |
A |
2: 29,791,091 (GRCm39) |
N79K |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,768 (GRCm39) |
I101T |
possibly damaging |
Het |
| Pard3b |
G |
A |
1: 62,237,930 (GRCm39) |
|
probably benign |
Het |
| Pde8b |
G |
A |
13: 95,182,906 (GRCm39) |
T388I |
probably damaging |
Het |
| Phactr2 |
A |
G |
10: 13,264,457 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
T |
C |
11: 77,874,186 (GRCm39) |
S17P |
probably damaging |
Het |
| Psmg2 |
T |
A |
18: 67,779,102 (GRCm39) |
L90* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,658,788 (GRCm39) |
|
probably null |
Het |
| Sec23b |
T |
C |
2: 144,423,952 (GRCm39) |
F534L |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,483,686 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
A |
T |
13: 100,947,818 (GRCm39) |
L463Q |
probably damaging |
Het |
| Slc35g3 |
T |
C |
11: 69,651,895 (GRCm39) |
H52R |
possibly damaging |
Het |
| Slc6a3 |
G |
T |
13: 73,719,585 (GRCm39) |
S538I |
probably damaging |
Het |
| Socs2 |
G |
T |
10: 95,248,713 (GRCm39) |
C133* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,076,423 (GRCm39) |
R691H |
probably benign |
Het |
| Tlr11 |
C |
A |
14: 50,598,557 (GRCm39) |
P181Q |
probably damaging |
Het |
| Tlr7 |
T |
A |
X: 166,089,203 (GRCm39) |
Q761L |
possibly damaging |
Het |
| Tmem120b |
T |
A |
5: 123,240,336 (GRCm39) |
Y90N |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,675,631 (GRCm39) |
I778V |
possibly damaging |
Het |
| Ttll8 |
T |
C |
15: 88,803,797 (GRCm39) |
T385A |
probably benign |
Het |
| Vmn1r223 |
G |
A |
13: 23,434,153 (GRCm39) |
R249H |
probably damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,334,937 (GRCm39) |
I241N |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,083,863 (GRCm39) |
R808G |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,308,565 (GRCm39) |
S231C |
probably damaging |
Het |
|
| Other mutations in Naa16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Naa16
|
APN |
14 |
79,593,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Naa16
|
APN |
14 |
79,622,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01155:Naa16
|
APN |
14 |
79,622,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01335:Naa16
|
APN |
14 |
79,582,556 (GRCm39) |
splice site |
probably benign |
|
|
IGL01981:Naa16
|
APN |
14 |
79,618,956 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02230:Naa16
|
APN |
14 |
79,614,801 (GRCm39) |
splice site |
probably benign |
|
|
IGL02313:Naa16
|
APN |
14 |
79,622,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02418:Naa16
|
APN |
14 |
79,620,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Naa16
|
APN |
14 |
79,573,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03051:Naa16
|
APN |
14 |
79,606,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03205:Naa16
|
APN |
14 |
79,593,952 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4508001:Naa16
|
UTSW |
14 |
79,606,527 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0651:Naa16
|
UTSW |
14 |
79,588,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Naa16
|
UTSW |
14 |
79,596,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1674:Naa16
|
UTSW |
14 |
79,624,497 (GRCm39) |
start codon destroyed |
probably null |
0.65 |
|
R1693:Naa16
|
UTSW |
14 |
79,588,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Naa16
|
UTSW |
14 |
79,593,183 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1992:Naa16
|
UTSW |
14 |
79,593,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Naa16
|
UTSW |
14 |
79,582,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Naa16
|
UTSW |
14 |
79,607,489 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2847:Naa16
|
UTSW |
14 |
79,573,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2848:Naa16
|
UTSW |
14 |
79,573,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Naa16
|
UTSW |
14 |
79,580,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3884:Naa16
|
UTSW |
14 |
79,580,702 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4001:Naa16
|
UTSW |
14 |
79,580,561 (GRCm39) |
splice site |
probably null |
|
|
R4199:Naa16
|
UTSW |
14 |
79,593,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4638:Naa16
|
UTSW |
14 |
79,577,473 (GRCm39) |
splice site |
probably null |
|
|
R4676:Naa16
|
UTSW |
14 |
79,573,788 (GRCm39) |
unclassified |
probably benign |
|
|
R4690:Naa16
|
UTSW |
14 |
79,582,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Naa16
|
UTSW |
14 |
79,582,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5087:Naa16
|
UTSW |
14 |
79,614,855 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5104:Naa16
|
UTSW |
14 |
79,622,140 (GRCm39) |
nonsense |
probably null |
|
|
R5729:Naa16
|
UTSW |
14 |
79,593,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6178:Naa16
|
UTSW |
14 |
79,620,780 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6960:Naa16
|
UTSW |
14 |
79,596,911 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7794:Naa16
|
UTSW |
14 |
79,614,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Naa16
|
UTSW |
14 |
79,578,486 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8356:Naa16
|
UTSW |
14 |
79,596,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8456:Naa16
|
UTSW |
14 |
79,596,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8892:Naa16
|
UTSW |
14 |
79,628,016 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8931:Naa16
|
UTSW |
14 |
79,582,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9010:Naa16
|
UTSW |
14 |
79,607,482 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9068:Naa16
|
UTSW |
14 |
79,612,289 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9360:Naa16
|
UTSW |
14 |
79,593,943 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9688:Naa16
|
UTSW |
14 |
79,573,309 (GRCm39) |
nonsense |
probably null |
|
|
X0064:Naa16
|
UTSW |
14 |
79,588,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Naa16
|
UTSW |
14 |
79,582,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation