Incidental Mutation 'IGL01981:Naa16'
| ID |
183496 |
| 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: 0.097)
|
| Stock # |
IGL01981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
79571947-79628228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79618956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 172
(E172D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022597]
[ENSMUST00000163486]
[ENSMUST00000169500]
|
| AlphaFold |
Q9DBB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022597
AA Change: E172D
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: E172D
| 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
AA Change: E138D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: E138D
| 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: ENSMUST00000165337
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169500
|
| SMART Domains |
Protein: ENSMUSP00000127298
Gene: ENSMUSG00000022020
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4KVO|D
|
1 |
46 |
1e-6 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
A |
C |
7: 27,337,499 (GRCm39) |
D417A |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,336 (GRCm39) |
S231T |
possibly damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,421,935 (GRCm39) |
T1377I |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,895,896 (GRCm39) |
T48A |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,251,501 (GRCm39) |
Y510C |
probably damaging |
Het |
| Chml |
A |
G |
1: 175,515,751 (GRCm39) |
S57P |
probably damaging |
Het |
| Cpxm1 |
G |
T |
2: 130,236,060 (GRCm39) |
C367* |
probably null |
Het |
| D930020B18Rik |
A |
G |
10: 121,528,319 (GRCm39) |
T428A |
probably damaging |
Het |
| Dnaja3 |
A |
T |
16: 4,519,033 (GRCm39) |
I325F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,407,519 (GRCm39) |
V943A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,481 (GRCm39) |
I300V |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,588,537 (GRCm39) |
E76G |
probably damaging |
Het |
| Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,042,647 (GRCm39) |
L380P |
probably damaging |
Het |
| Fxr2 |
A |
C |
11: 69,541,328 (GRCm39) |
I354L |
possibly damaging |
Het |
| Garnl3 |
G |
T |
2: 32,887,741 (GRCm39) |
N756K |
probably damaging |
Het |
| Gimap1 |
A |
G |
6: 48,720,258 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,935,795 (GRCm39) |
W99* |
probably null |
Het |
| Hexd |
G |
T |
11: 121,107,819 (GRCm39) |
S183I |
possibly damaging |
Het |
| Hmg20a |
C |
T |
9: 56,384,514 (GRCm39) |
P95S |
probably damaging |
Het |
| Jhy |
A |
T |
9: 40,806,842 (GRCm39) |
I769N |
probably damaging |
Het |
| Lrrd1 |
G |
T |
5: 3,901,267 (GRCm39) |
C524F |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,296,629 (GRCm39) |
S76R |
probably damaging |
Het |
| Myom3 |
C |
T |
4: 135,513,160 (GRCm39) |
R613* |
probably null |
Het |
| Obox6 |
A |
T |
7: 15,568,846 (GRCm39) |
M10K |
possibly damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,174 (GRCm39) |
Y278N |
probably benign |
Het |
| Pam |
C |
T |
1: 97,762,166 (GRCm39) |
V700M |
probably damaging |
Het |
| Phf8-ps |
C |
T |
17: 33,286,628 (GRCm39) |
G58E |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,743,655 (GRCm39) |
R1978L |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,593,791 (GRCm39) |
T1441S |
possibly damaging |
Het |
| Plg |
A |
G |
17: 12,621,934 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
A |
G |
6: 25,750,099 (GRCm39) |
L521P |
probably damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,924 (GRCm39) |
P6S |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,270,256 (GRCm39) |
V1280E |
probably damaging |
Het |
| Rcbtb2 |
T |
C |
14: 73,402,222 (GRCm39) |
S136P |
possibly damaging |
Het |
| Rtl1 |
C |
T |
12: 109,558,369 (GRCm39) |
E1157K |
possibly damaging |
Het |
| Sell |
G |
A |
1: 163,893,195 (GRCm39) |
R137Q |
probably benign |
Het |
| Shisa9 |
A |
T |
16: 12,062,522 (GRCm39) |
M248L |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,966,149 (GRCm39) |
E1144G |
probably benign |
Het |
| Sphk2 |
G |
T |
7: 45,360,157 (GRCm39) |
Q616K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,442,453 (GRCm39) |
T207A |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,996,842 (GRCm39) |
T1885A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,232,965 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,927,350 (GRCm39) |
M622T |
probably benign |
Het |
| Vangl1 |
A |
G |
3: 102,091,607 (GRCm39) |
F160L |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,813,317 (GRCm39) |
S3289G |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,855,673 (GRCm39) |
F647S |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,498,907 (GRCm39) |
L509P |
probably damaging |
Het |
| Zcchc2 |
A |
G |
1: 105,955,229 (GRCm39) |
E640G |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,324,383 (GRCm39) |
I326N |
probably benign |
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 |
|
|
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 |
|
IGL03064:Naa16
|
APN |
14 |
79,577,068 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2014-05-07 |
Incidental Mutation