Incidental Mutation 'R3721:Naa25'
ID |
258902 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naa25
|
Ensembl Gene |
ENSMUSG00000042719 |
Gene Name |
N(alpha)-acetyltransferase 25, NatB auxiliary subunit |
Synonyms |
C330023M02Rik, 4833422K13Rik |
MMRRC Submission |
040712-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3721 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
121535977-121580612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121569619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 659
(D659E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042163]
[ENSMUST00000151458]
[ENSMUST00000153758]
[ENSMUST00000173895]
|
AlphaFold |
Q8BWZ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042163
AA Change: D659E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038977 Gene: ENSMUSG00000042719 AA Change: D659E
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 |
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (59/59) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
T |
C |
2: 48,782,150 (GRCm39) |
S228P |
probably damaging |
Het |
Adamts2 |
C |
T |
11: 50,664,038 (GRCm39) |
|
probably benign |
Het |
Arhgap9 |
A |
G |
10: 127,164,840 (GRCm39) |
E588G |
possibly damaging |
Het |
Ash2l |
C |
G |
8: 26,308,653 (GRCm39) |
G453A |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,404,527 (GRCm39) |
V638A |
probably benign |
Het |
Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
Cdc73 |
T |
C |
1: 143,571,191 (GRCm39) |
I83V |
possibly damaging |
Het |
Ceacam23 |
A |
G |
7: 17,636,663 (GRCm39) |
T247A |
probably benign |
Het |
Clec2e |
C |
A |
6: 129,071,373 (GRCm39) |
E155* |
probably null |
Het |
Cyp3a59 |
T |
A |
5: 146,033,407 (GRCm39) |
M181K |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,890,878 (GRCm39) |
V111E |
probably benign |
Het |
Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
Eeig2 |
C |
T |
3: 108,887,083 (GRCm39) |
R305Q |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,580,449 (GRCm39) |
N759S |
probably benign |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Ggnbp1 |
T |
C |
17: 27,248,587 (GRCm39) |
V52A |
probably benign |
Het |
Gpr171 |
A |
G |
3: 59,005,091 (GRCm39) |
V228A |
possibly damaging |
Het |
Gsta3 |
T |
C |
1: 21,330,313 (GRCm39) |
M55T |
probably benign |
Het |
Hectd3 |
T |
A |
4: 116,856,942 (GRCm39) |
N496K |
probably benign |
Het |
Hp1bp3 |
T |
G |
4: 137,966,919 (GRCm39) |
F367V |
probably damaging |
Het |
Il18rap |
T |
A |
1: 40,576,248 (GRCm39) |
L253Q |
probably damaging |
Het |
Irs1 |
C |
T |
1: 82,267,806 (GRCm39) |
G137S |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lair1 |
A |
C |
7: 4,013,782 (GRCm39) |
L155R |
probably damaging |
Het |
Larp7 |
A |
G |
3: 127,340,460 (GRCm39) |
L126P |
probably damaging |
Het |
Lhx1 |
G |
A |
11: 84,412,654 (GRCm39) |
R89C |
probably damaging |
Het |
Lypd4 |
C |
A |
7: 24,564,884 (GRCm39) |
A85S |
probably benign |
Het |
Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
Myh10 |
G |
T |
11: 68,703,878 (GRCm39) |
R1863L |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,775,463 (GRCm39) |
V1025I |
probably benign |
Het |
Nol9 |
A |
G |
4: 152,124,163 (GRCm39) |
S118G |
probably benign |
Het |
Or4k2 |
C |
T |
14: 50,424,137 (GRCm39) |
C179Y |
probably damaging |
Het |
Or5p72 |
G |
T |
7: 108,022,326 (GRCm39) |
D183Y |
probably damaging |
Het |
Pde10a |
T |
A |
17: 9,188,421 (GRCm39) |
I907N |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,655,879 (GRCm39) |
D218G |
probably benign |
Het |
Poll |
A |
G |
19: 45,542,016 (GRCm39) |
I430T |
probably damaging |
Het |
Pomgnt1 |
T |
G |
4: 116,010,740 (GRCm39) |
|
probably benign |
Het |
Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
Rad1 |
T |
C |
15: 10,488,112 (GRCm39) |
S79P |
probably benign |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Rcc1 |
T |
C |
4: 132,065,125 (GRCm39) |
K133E |
possibly damaging |
Het |
Ric8a |
T |
C |
7: 140,441,874 (GRCm39) |
|
probably null |
Het |
Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
Rps6ka4 |
A |
G |
19: 6,816,645 (GRCm39) |
V146A |
possibly damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,073,050 (GRCm39) |
I633V |
possibly damaging |
Het |
Slc2a2 |
T |
A |
3: 28,781,301 (GRCm39) |
N446K |
probably damaging |
Het |
Slc44a1 |
T |
C |
4: 53,491,445 (GRCm39) |
Y61H |
probably damaging |
Het |
Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
Smc5 |
T |
C |
19: 23,187,856 (GRCm39) |
M911V |
probably benign |
Het |
Sntb1 |
C |
A |
15: 55,506,214 (GRCm39) |
R453L |
probably benign |
Het |
Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
Srrm2 |
CTCCTCTTCTTCCTCTTCTTCCTC |
CTCCTCTTCTTCCTC |
17: 24,041,549 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
T |
G |
7: 63,867,475 (GRCm39) |
|
probably benign |
Het |
Tufm |
T |
C |
7: 126,089,632 (GRCm39) |
M442T |
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,891,242 (GRCm39) |
N539S |
possibly 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 |
|
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 |
|
R7800:Naa25
|
UTSW |
5 |
121,562,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
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'- CTCGTTCCAGGAAAAGAAAGTCC -3'
(R):5'- TCCACTCGGAGCTCATACAG -3'
Sequencing Primer
(F):5'- CATCCATGTGTAAATCAGGCATGGC -3'
(R):5'- CCAAGGACAGACCCAGCTTGG -3'
|
Posted On |
2015-01-23 |