Incidental Mutation 'R7800:Naa25'
| ID |
600469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naa25
|
| Ensembl Gene |
ENSMUSG00000042719 |
| Gene Name |
N(alpha)-acetyltransferase 25, NatB auxiliary subunit |
| Synonyms |
C330023M02Rik, 4833422K13Rik |
| MMRRC Submission |
045855-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121535977-121580612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121562594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 459
(T459A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042163]
[ENSMUST00000151458]
[ENSMUST00000153758]
[ENSMUST00000173895]
|
| AlphaFold |
Q8BWZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042163
AA Change: T459A
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038977
Gene: ENSMUSG00000042719
AA Change: T459A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
45 |
N/A |
INTRINSIC |
|
Pfam:NatB_MDM20
|
263 |
658 |
1.6e-121 |
PFAM |
|
low complexity region
|
672 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
935 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
971 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151458
|
| SMART Domains |
Protein: ENSMUSP00000120970
Gene: ENSMUSG00000042719
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a17__
|
21 |
94 |
1e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153758
|
| SMART Domains |
Protein: ENSMUSP00000122522
Gene: ENSMUSG00000029616
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
SCOP:d1g7ea_
|
35 |
55 |
3e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173895
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,078,698 (GRCm39) |
D1264G |
probably benign |
Het |
| Ace |
T |
C |
11: 105,876,884 (GRCm39) |
F1122S |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 70,990,283 (GRCm39) |
Y112D |
probably benign |
Het |
| Cacnb1 |
T |
G |
11: 97,900,121 (GRCm39) |
I346L |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,209,639 (GRCm39) |
T607A |
probably damaging |
Het |
| Cby3 |
T |
C |
11: 50,250,175 (GRCm39) |
F32S |
probably damaging |
Het |
| Cers5 |
G |
T |
15: 99,634,122 (GRCm39) |
H409N |
probably benign |
Het |
| Ces1h |
A |
T |
8: 94,106,322 (GRCm39) |
L11H |
|
Het |
| Clcnkb |
T |
C |
4: 141,141,833 (GRCm39) |
Y51C |
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,866,420 (GRCm39) |
E856G |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,491,690 (GRCm39) |
V378A |
probably benign |
Het |
| Crisp4 |
A |
C |
1: 18,198,973 (GRCm39) |
S154A |
probably benign |
Het |
| Disp1 |
C |
T |
1: 182,880,550 (GRCm39) |
R241Q |
probably benign |
Het |
| Ermard |
G |
A |
17: 15,277,065 (GRCm39) |
R429H |
probably benign |
Het |
| Extl1 |
C |
T |
4: 134,098,929 (GRCm39) |
G34D |
probably benign |
Het |
| Gen1 |
T |
C |
12: 11,291,863 (GRCm39) |
D707G |
probably benign |
Het |
| H1f3 |
C |
A |
13: 23,739,541 (GRCm39) |
T93N |
possibly damaging |
Het |
| Igkv5-37 |
A |
C |
6: 69,940,499 (GRCm39) |
S48R |
possibly damaging |
Het |
| Ilvbl |
C |
T |
10: 78,419,809 (GRCm39) |
A571V |
possibly damaging |
Het |
| Itgb1 |
A |
G |
8: 129,439,718 (GRCm39) |
K136E |
possibly damaging |
Het |
| Lhx8 |
A |
G |
3: 154,027,284 (GRCm39) |
F253L |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,636,621 (GRCm39) |
Y574C |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,396,635 (GRCm39) |
|
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 77,952,488 (GRCm39) |
R576S |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,041,904 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or2ag12 |
A |
G |
7: 106,276,781 (GRCm39) |
V304A |
probably benign |
Het |
| Or8b53 |
T |
G |
9: 38,667,914 (GRCm39) |
L310W |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,722,376 (GRCm39) |
Y326F |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,064,426 (GRCm39) |
D363E |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,434,974 (GRCm39) |
N313K |
probably benign |
Het |
| Pcdhb9 |
A |
C |
18: 37,534,602 (GRCm39) |
S199R |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,622,599 (GRCm39) |
D1537N |
probably damaging |
Het |
| Pinx1 |
A |
G |
14: 64,156,984 (GRCm39) |
K304E |
probably benign |
Het |
| Pnlip |
T |
C |
19: 58,670,134 (GRCm39) |
V458A |
probably benign |
Het |
| Polr3a |
C |
A |
14: 24,534,455 (GRCm39) |
M60I |
probably null |
Het |
| Qrich2 |
G |
T |
11: 116,347,686 (GRCm39) |
S1046* |
probably null |
Het |
| Rigi |
T |
C |
4: 40,211,618 (GRCm39) |
E650G |
probably benign |
Het |
| Rps6ka5 |
G |
A |
12: 100,524,824 (GRCm39) |
P638S |
probably damaging |
Het |
| Slc6a13 |
T |
A |
6: 121,298,658 (GRCm39) |
N158K |
probably damaging |
Het |
| Sord |
T |
C |
2: 122,089,561 (GRCm39) |
V187A |
probably damaging |
Het |
| Sult2a2 |
A |
G |
7: 13,468,710 (GRCm39) |
T59A |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,896,558 (GRCm39) |
D777G |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,743,345 (GRCm39) |
D159G |
probably benign |
Het |
| Trbc1 |
A |
G |
6: 41,516,195 (GRCm39) |
I142V |
|
Het |
| Usp17ld |
A |
G |
7: 102,900,041 (GRCm39) |
V297A |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,069 (GRCm39) |
*316R |
probably null |
Het |
| Wdr59 |
C |
A |
8: 112,248,570 (GRCm39) |
R15L |
|
Het |
| Zfp189 |
C |
T |
4: 49,529,367 (GRCm39) |
P157S |
possibly damaging |
Het |
| Zfp407 |
C |
T |
18: 84,578,800 (GRCm39) |
G771D |
probably damaging |
Het |
|
| Other mutations in Naa25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02025:Naa25
|
APN |
5 |
121,577,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Naa25
|
APN |
5 |
121,564,825 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02541:Naa25
|
APN |
5 |
121,562,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02747:Naa25
|
APN |
5 |
121,552,668 (GRCm39) |
splice site |
probably benign |
|
|
IGL03074:Naa25
|
APN |
5 |
121,546,400 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03119:Naa25
|
APN |
5 |
121,573,041 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03218:Naa25
|
APN |
5 |
121,564,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Naa25
|
UTSW |
5 |
121,545,247 (GRCm39) |
intron |
probably benign |
|
|
R0022:Naa25
|
UTSW |
5 |
121,556,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Naa25
|
UTSW |
5 |
121,556,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Naa25
|
UTSW |
5 |
121,573,632 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0102:Naa25
|
UTSW |
5 |
121,573,632 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0399:Naa25
|
UTSW |
5 |
121,573,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0973:Naa25
|
UTSW |
5 |
121,576,779 (GRCm39) |
splice site |
probably benign |
|
|
R1418:Naa25
|
UTSW |
5 |
121,561,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1582:Naa25
|
UTSW |
5 |
121,572,892 (GRCm39) |
missense |
probably benign |
|
|
R1793:Naa25
|
UTSW |
5 |
121,558,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Naa25
|
UTSW |
5 |
121,555,478 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1863:Naa25
|
UTSW |
5 |
121,573,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3160:Naa25
|
UTSW |
5 |
121,573,135 (GRCm39) |
splice site |
probably null |
|
|
R3162:Naa25
|
UTSW |
5 |
121,573,135 (GRCm39) |
splice site |
probably null |
|
|
R3721:Naa25
|
UTSW |
5 |
121,569,619 (GRCm39) |
missense |
probably benign |
|
|
R3864:Naa25
|
UTSW |
5 |
121,547,260 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4852:Naa25
|
UTSW |
5 |
121,568,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Naa25
|
UTSW |
5 |
121,562,639 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5602:Naa25
|
UTSW |
5 |
121,558,558 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5855:Naa25
|
UTSW |
5 |
121,561,755 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6464:Naa25
|
UTSW |
5 |
121,556,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Naa25
|
UTSW |
5 |
121,576,888 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6750:Naa25
|
UTSW |
5 |
121,546,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Naa25
|
UTSW |
5 |
121,577,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Naa25
|
UTSW |
5 |
121,576,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Naa25
|
UTSW |
5 |
121,555,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7631:Naa25
|
UTSW |
5 |
121,576,791 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7701:Naa25
|
UTSW |
5 |
121,564,042 (GRCm39) |
missense |
probably benign |
|
|
R7804:Naa25
|
UTSW |
5 |
121,562,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7822:Naa25
|
UTSW |
5 |
121,545,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8707:Naa25
|
UTSW |
5 |
121,552,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Naa25
|
UTSW |
5 |
121,552,573 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9486:Naa25
|
UTSW |
5 |
121,577,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0004:Naa25
|
UTSW |
5 |
121,551,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATCCCAGGTTATTATTAAGGC -3'
(R):5'- ACACTCATCAGAAGGCAGGG -3'
Sequencing Primer
(F):5'- AGGCTTATATTTGTCTTCAGTACTCC -3'
(R):5'- CCTAAGGCCCAGTGCATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation