Incidental Mutation 'R7797:Naa15'
ID |
600264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naa15
|
Ensembl Gene |
ENSMUSG00000063273 |
Gene Name |
N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
Synonyms |
Narg1, 5730450D16Rik, ASTBDN, Tbdn-1, tubedown, mNAT1 |
MMRRC Submission |
045853-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R7797 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
51323437-51383406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 51356031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 322
(C322Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029303
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029303]
[ENSMUST00000193266]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029303
AA Change: C322Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029303 Gene: ENSMUSG00000063273 AA Change: C322Y
Domain | Start | End | E-Value | Type |
TPR
|
46 |
79 |
6.24e1 |
SMART |
TPR
|
80 |
113 |
1.01e0 |
SMART |
Blast:TPR
|
224 |
257 |
3e-12 |
BLAST |
TPR
|
374 |
407 |
1.87e1 |
SMART |
TPR
|
408 |
441 |
5.06e1 |
SMART |
low complexity region
|
603 |
641 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192197
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193266
AA Change: C272Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141433 Gene: ENSMUSG00000063273 AA Change: C272Y
Domain | Start | End | E-Value | Type |
Blast:TPR
|
1 |
29 |
3e-10 |
BLAST |
TPR
|
30 |
63 |
4.9e-3 |
SMART |
Blast:TPR
|
174 |
207 |
3e-12 |
BLAST |
TPR
|
324 |
357 |
8.9e-2 |
SMART |
TPR
|
358 |
391 |
2.4e-1 |
SMART |
coiled coil region
|
533 |
585 |
N/A |
INTRINSIC |
Blast:TPR
|
622 |
655 |
7e-10 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (68/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,862,509 (GRCm39) |
|
probably null |
Het |
Adam3 |
T |
G |
8: 25,184,660 (GRCm39) |
N535T |
probably damaging |
Het |
Adam34l |
T |
A |
8: 44,079,411 (GRCm39) |
E271V |
probably benign |
Het |
Adamts4 |
A |
G |
1: 171,085,387 (GRCm39) |
K679E |
probably damaging |
Het |
Arnt |
G |
A |
3: 95,387,572 (GRCm39) |
|
probably null |
Het |
Asah2 |
A |
G |
19: 31,999,761 (GRCm39) |
F321L |
probably damaging |
Het |
Asb15 |
T |
C |
6: 24,562,505 (GRCm39) |
S156P |
probably damaging |
Het |
Baiap2l1 |
A |
C |
5: 144,255,760 (GRCm39) |
S65A |
probably damaging |
Het |
Bend7 |
T |
G |
2: 4,754,455 (GRCm39) |
M186R |
probably damaging |
Het |
Blnk |
T |
C |
19: 40,948,232 (GRCm39) |
K146E |
possibly damaging |
Het |
Cd19 |
A |
G |
7: 126,012,680 (GRCm39) |
W238R |
probably damaging |
Het |
Cd44 |
T |
A |
2: 102,679,079 (GRCm39) |
N241I |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,220,973 (GRCm39) |
E1257G |
probably benign |
Het |
Cfap300 |
G |
T |
9: 8,027,130 (GRCm39) |
P136Q |
possibly damaging |
Het |
Cntnap5c |
T |
C |
17: 58,666,270 (GRCm39) |
V1100A |
probably benign |
Het |
Cul7 |
T |
C |
17: 46,969,568 (GRCm39) |
V945A |
possibly damaging |
Het |
Dock2 |
C |
T |
11: 34,232,652 (GRCm39) |
C1116Y |
probably damaging |
Het |
Ehbp1 |
T |
C |
11: 22,046,109 (GRCm39) |
M547V |
possibly damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Grhl3 |
C |
G |
4: 135,286,416 (GRCm39) |
K88N |
possibly damaging |
Het |
Hbb-y |
T |
A |
7: 103,501,088 (GRCm39) |
Y146F |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,005,847 (GRCm39) |
V815A |
probably benign |
Het |
Hoxa7 |
T |
A |
6: 52,192,870 (GRCm39) |
I173F |
probably damaging |
Het |
Igkv1-110 |
T |
G |
6: 68,247,977 (GRCm39) |
S29A |
probably benign |
Het |
Jade2 |
A |
G |
11: 51,708,126 (GRCm39) |
S696P |
probably benign |
Het |
Kif1b |
T |
A |
4: 149,321,844 (GRCm39) |
Q1025L |
probably benign |
Het |
Kif2c |
A |
T |
4: 117,028,940 (GRCm39) |
C241S |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,762,287 (GRCm39) |
H400N |
probably benign |
Het |
Krt35 |
T |
A |
11: 99,985,713 (GRCm39) |
N174Y |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Magi3 |
A |
G |
3: 103,958,618 (GRCm39) |
V489A |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,380,241 (GRCm39) |
E739G |
possibly damaging |
Het |
Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,061,814 (GRCm39) |
|
probably null |
Het |
Megf8 |
G |
A |
7: 25,034,022 (GRCm39) |
R607H |
probably damaging |
Het |
Met |
T |
A |
6: 17,533,952 (GRCm39) |
N634K |
probably damaging |
Het |
Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
Mmp11 |
G |
T |
10: 75,759,314 (GRCm39) |
T107K |
|
Het |
Mroh2b |
A |
C |
15: 4,978,587 (GRCm39) |
N1378H |
probably benign |
Het |
Naip1 |
T |
A |
13: 100,580,986 (GRCm39) |
Y87F |
probably damaging |
Het |
Ngrn |
A |
G |
7: 79,914,185 (GRCm39) |
D112G |
probably benign |
Het |
Osbpl1a |
C |
A |
18: 13,015,321 (GRCm39) |
C369F |
probably damaging |
Het |
Pcnx2 |
G |
C |
8: 126,512,087 (GRCm39) |
D1406E |
possibly damaging |
Het |
Phf8-ps |
T |
C |
17: 33,286,664 (GRCm39) |
D46G |
probably damaging |
Het |
Pold1 |
G |
A |
7: 44,191,213 (GRCm39) |
P206L |
probably benign |
Het |
Psen1 |
A |
G |
12: 83,746,396 (GRCm39) |
S20G |
probably benign |
Het |
Ptpn23 |
C |
T |
9: 110,222,875 (GRCm39) |
D61N |
possibly damaging |
Het |
Rbfox3 |
A |
T |
11: 118,387,310 (GRCm39) |
L268Q |
possibly damaging |
Het |
Rbm22 |
A |
G |
18: 60,694,344 (GRCm39) |
T26A |
probably damaging |
Het |
Rpgrip1 |
G |
A |
14: 52,371,277 (GRCm39) |
R332Q |
possibly damaging |
Het |
Rrm2b |
A |
T |
15: 37,927,505 (GRCm39) |
L347* |
probably null |
Het |
Rsf1 |
A |
T |
7: 97,310,692 (GRCm39) |
D474V |
|
Het |
Ryr2 |
C |
T |
13: 11,816,066 (GRCm39) |
R640Q |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,389,245 (GRCm39) |
E691G |
unknown |
Het |
Septin1 |
A |
T |
7: 126,813,937 (GRCm39) |
V365E |
unknown |
Het |
Tlk2 |
A |
G |
11: 105,101,444 (GRCm39) |
H114R |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,869,864 (GRCm39) |
I135T |
possibly damaging |
Het |
Tpst2 |
T |
A |
5: 112,455,782 (GRCm39) |
V107E |
probably damaging |
Het |
Trim30a |
A |
T |
7: 104,060,407 (GRCm39) |
D456E |
possibly damaging |
Het |
Ttll3 |
T |
C |
6: 113,371,738 (GRCm39) |
V45A |
possibly damaging |
Het |
Ulk2 |
A |
G |
11: 61,672,928 (GRCm39) |
Y889H |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,178,125 (GRCm39) |
S34G |
probably benign |
Het |
Vmn1r67 |
A |
G |
7: 10,180,903 (GRCm39) |
I56V |
probably benign |
Het |
Vmn2r120 |
C |
T |
17: 57,815,874 (GRCm39) |
G827E |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,857,555 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Naa15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Naa15
|
APN |
3 |
51,345,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01753:Naa15
|
APN |
3 |
51,350,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01837:Naa15
|
APN |
3 |
51,351,369 (GRCm39) |
nonsense |
probably null |
|
IGL02619:Naa15
|
APN |
3 |
51,367,552 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02691:Naa15
|
APN |
3 |
51,358,747 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02974:Naa15
|
APN |
3 |
51,368,628 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0009:Naa15
|
UTSW |
3 |
51,377,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Naa15
|
UTSW |
3 |
51,343,634 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0114:Naa15
|
UTSW |
3 |
51,355,859 (GRCm39) |
critical splice donor site |
probably null |
|
R0411:Naa15
|
UTSW |
3 |
51,373,060 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1348:Naa15
|
UTSW |
3 |
51,373,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R1941:Naa15
|
UTSW |
3 |
51,363,355 (GRCm39) |
nonsense |
probably null |
|
R3082:Naa15
|
UTSW |
3 |
51,367,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R4377:Naa15
|
UTSW |
3 |
51,355,786 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4591:Naa15
|
UTSW |
3 |
51,349,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R4980:Naa15
|
UTSW |
3 |
51,366,173 (GRCm39) |
critical splice donor site |
probably null |
|
R5087:Naa15
|
UTSW |
3 |
51,364,706 (GRCm39) |
splice site |
probably null |
|
R5139:Naa15
|
UTSW |
3 |
51,351,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R5289:Naa15
|
UTSW |
3 |
51,363,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R5527:Naa15
|
UTSW |
3 |
51,349,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R5776:Naa15
|
UTSW |
3 |
51,367,447 (GRCm39) |
missense |
probably damaging |
0.96 |
R5909:Naa15
|
UTSW |
3 |
51,367,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:Naa15
|
UTSW |
3 |
51,350,242 (GRCm39) |
missense |
probably damaging |
0.98 |
R6034:Naa15
|
UTSW |
3 |
51,350,242 (GRCm39) |
missense |
probably damaging |
0.98 |
R6194:Naa15
|
UTSW |
3 |
51,370,721 (GRCm39) |
missense |
probably benign |
0.00 |
R6291:Naa15
|
UTSW |
3 |
51,350,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R6522:Naa15
|
UTSW |
3 |
51,378,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R6731:Naa15
|
UTSW |
3 |
51,363,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R6984:Naa15
|
UTSW |
3 |
51,380,021 (GRCm39) |
missense |
probably benign |
0.10 |
R7040:Naa15
|
UTSW |
3 |
51,380,205 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7091:Naa15
|
UTSW |
3 |
51,366,177 (GRCm39) |
splice site |
probably null |
|
R7380:Naa15
|
UTSW |
3 |
51,367,268 (GRCm39) |
splice site |
probably null |
|
R7685:Naa15
|
UTSW |
3 |
51,377,395 (GRCm39) |
splice site |
probably null |
|
R7781:Naa15
|
UTSW |
3 |
51,378,904 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7836:Naa15
|
UTSW |
3 |
51,370,688 (GRCm39) |
nonsense |
probably null |
|
R7981:Naa15
|
UTSW |
3 |
51,366,092 (GRCm39) |
missense |
probably damaging |
0.96 |
R8513:Naa15
|
UTSW |
3 |
51,367,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R8923:Naa15
|
UTSW |
3 |
51,367,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R9159:Naa15
|
UTSW |
3 |
51,358,802 (GRCm39) |
missense |
probably benign |
0.01 |
R9701:Naa15
|
UTSW |
3 |
51,349,370 (GRCm39) |
nonsense |
probably null |
|
R9802:Naa15
|
UTSW |
3 |
51,349,370 (GRCm39) |
nonsense |
probably null |
|
X0020:Naa15
|
UTSW |
3 |
51,377,553 (GRCm39) |
missense |
probably benign |
0.00 |
X0061:Naa15
|
UTSW |
3 |
51,356,022 (GRCm39) |
missense |
probably benign |
0.11 |
X0061:Naa15
|
UTSW |
3 |
51,356,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGGACTAAATACCCCAG -3'
(R):5'- TCAGTAAAGCACCGAAGAGC -3'
Sequencing Primer
(F):5'- AGGCTGCCCTTAAACTTTTTATCTGG -3'
(R):5'- CAGACTACAAATGGAAAAGGGTACAC -3'
|
Posted On |
2019-11-26 |