Incidental Mutation 'R8707:Naa25'
| ID |
669300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naa25
|
| Ensembl Gene |
ENSMUSG00000042719 |
| Gene Name |
N(alpha)-acetyltransferase 25, NatB auxiliary subunit |
| Synonyms |
C330023M02Rik, 4833422K13Rik |
| MMRRC Submission |
068561-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8707 (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 121552875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 199
(Y199C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042163]
[ENSMUST00000151458]
[ENSMUST00000173895]
|
| AlphaFold |
Q8BWZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042163
AA Change: Y199C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038977
Gene: ENSMUSG00000042719
AA Change: Y199C
| 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: ENSMUST00000173895
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb18 |
A |
G |
1: 89,920,857 (GRCm39) |
L140P |
probably damaging |
Het |
| Ccdc8 |
C |
T |
7: 16,729,975 (GRCm39) |
A488V |
unknown |
Het |
| Cfap57 |
C |
A |
4: 118,450,203 (GRCm39) |
V640F |
probably benign |
Het |
| Cx3cl1 |
A |
T |
8: 95,506,375 (GRCm39) |
T127S |
probably benign |
Het |
| Dars2 |
A |
G |
1: 160,884,081 (GRCm39) |
C263R |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,069,847 (GRCm39) |
M1135V |
probably damaging |
Het |
| Echdc2 |
G |
A |
4: 108,031,028 (GRCm39) |
R169Q |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,819,920 (GRCm39) |
A2549V |
probably benign |
Het |
| Fermt1 |
G |
A |
2: 132,766,881 (GRCm39) |
T362I |
probably benign |
Het |
| Fev |
A |
G |
1: 74,924,316 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,073,070 (GRCm39) |
D404V |
probably damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igfals |
C |
A |
17: 25,099,185 (GRCm39) |
A92E |
possibly damaging |
Het |
| Inppl1 |
G |
A |
7: 101,478,903 (GRCm39) |
A33V |
|
Het |
| Kcnc4 |
A |
G |
3: 107,355,449 (GRCm39) |
V333A |
possibly damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,791,234 (GRCm39) |
R393* |
probably null |
Het |
| Lrrc14 |
T |
A |
15: 76,597,416 (GRCm39) |
C109S |
probably benign |
Het |
| Ms4a12 |
A |
G |
19: 11,192,736 (GRCm39) |
V200A |
possibly damaging |
Het |
| Mtnr1b |
C |
A |
9: 15,785,809 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
A |
16: 48,973,450 (GRCm39) |
C1240Y |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,510,359 (GRCm39) |
L47P |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,313,039 (GRCm39) |
T358I |
probably damaging |
Het |
| Pop1 |
C |
T |
15: 34,529,349 (GRCm39) |
T823I |
probably benign |
Het |
| Rad54l |
A |
G |
4: 115,954,533 (GRCm39) |
V690A |
probably benign |
Het |
| Setdb2 |
G |
A |
14: 59,660,907 (GRCm39) |
Q79* |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,070,197 (GRCm39) |
E2530* |
probably null |
Het |
| Synj1 |
T |
C |
16: 90,752,319 (GRCm39) |
D1012G |
probably benign |
Het |
| Thbs2 |
C |
T |
17: 14,911,645 (GRCm39) |
G11D |
probably damaging |
Het |
| Tmem177 |
G |
A |
1: 119,838,070 (GRCm39) |
A203V |
probably benign |
Het |
| Trappc3l |
A |
G |
10: 33,978,727 (GRCm39) |
Y177C |
unknown |
Het |
| Ube2d1 |
T |
C |
10: 71,092,478 (GRCm39) |
D122G |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,412,965 (GRCm39) |
T116A |
probably benign |
Het |
| Wasf2 |
T |
A |
4: 132,917,540 (GRCm39) |
V213E |
unknown |
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 |
|
|
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 |
|
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'- GCTTAGCTGTGACCCCATAG -3'
(R):5'- ATTATGCCAGGAACCTTTTGCC -3'
Sequencing Primer
(F):5'- ATAGGGGCCTCTGGTAGAC -3'
(R):5'- AAGTACACTGTAGCTCTCTTCAGAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation