Incidental Mutation 'PIT4508001:Naa16'
| ID |
556242 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4508001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
79571947-79628228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79606527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 335
(D335E)
|
| 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: D335E
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022597
Gene: ENSMUSG00000022020
AA Change: D335E
| 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: D301E
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000131268
Gene: ENSMUSG00000022020
AA Change: D301E
| 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 |
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 |
- 1x: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,903,057 (GRCm39) |
A6T |
possibly damaging |
Het |
| Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,767,284 (GRCm39) |
F478S |
probably damaging |
Het |
| Esco2 |
A |
T |
14: 66,068,914 (GRCm39) |
V132E |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,033 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
| H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
| Itga3 |
T |
C |
11: 94,946,719 (GRCm39) |
H730R |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,360,606 (GRCm39) |
L127Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
| Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
| Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
| Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,722,892 (GRCm39) |
A331S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
| Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
| Zfp326 |
A |
T |
5: 106,062,556 (GRCm39) |
Q475L |
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
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 |
|
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATGCGCAATTCCTTTG -3'
(R):5'- CTGCTTGCAGAGTCATTGCTC -3'
Sequencing Primer
(F):5'- ATGCGCAATTCCTTTGTTATCAC -3'
(R):5'- AGAGTCATTGCTCTGAGGGGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation