Incidental Mutation 'R5077:Naa25'
| ID |
401931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naa25
|
| Ensembl Gene |
ENSMUSG00000042719 |
| Gene Name |
N(alpha)-acetyltransferase 25, NatB auxiliary subunit |
| Synonyms |
C330023M02Rik, 4833422K13Rik |
| MMRRC Submission |
042666-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5077 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121535977-121580612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121562639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 474
(V474M)
|
| 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: V474M
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000038977
Gene: ENSMUSG00000042719
AA Change: V474M
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
93% (51/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,080,200 (GRCm39) |
V8A |
possibly damaging |
Het |
| Agbl4 |
A |
T |
4: 111,423,939 (GRCm39) |
M322L |
probably benign |
Het |
| Ankrd55 |
A |
G |
13: 112,492,522 (GRCm39) |
K231R |
probably benign |
Het |
| Asap1 |
A |
C |
15: 63,999,272 (GRCm39) |
M534R |
probably damaging |
Het |
| B4galnt2 |
T |
A |
11: 95,767,140 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,437,475 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,594,224 (GRCm39) |
I2311M |
probably benign |
Het |
| Capn2 |
G |
T |
1: 182,300,138 (GRCm39) |
D617E |
possibly damaging |
Het |
| Catsper1 |
A |
G |
19: 5,385,998 (GRCm39) |
D77G |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,922,098 (GRCm39) |
|
probably benign |
Het |
| Cdca8 |
T |
C |
4: 124,820,470 (GRCm39) |
K109E |
probably damaging |
Het |
| Dbx1 |
A |
G |
7: 49,283,242 (GRCm39) |
S223P |
probably damaging |
Het |
| Dlg4 |
A |
G |
11: 69,917,852 (GRCm39) |
N45S |
possibly damaging |
Het |
| Dlgap2 |
T |
G |
8: 14,872,691 (GRCm39) |
V723G |
probably benign |
Het |
| Efl1 |
C |
A |
7: 82,307,295 (GRCm39) |
Q64K |
probably damaging |
Het |
| Eml1 |
T |
A |
12: 108,472,871 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,117 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
A |
T |
2: 98,497,379 (GRCm39) |
L80M |
probably benign |
Het |
| H4c16 |
A |
G |
6: 136,781,113 (GRCm39) |
Y89H |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,239,964 (GRCm39) |
V112E |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,307,797 (GRCm39) |
S123P |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,780,851 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,372,658 (GRCm39) |
V119A |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,379,277 (GRCm39) |
V219E |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,590,274 (GRCm39) |
I523V |
probably benign |
Het |
| Nrp1 |
G |
T |
8: 129,227,154 (GRCm39) |
|
probably null |
Het |
| Nsun4 |
A |
T |
4: 115,905,781 (GRCm39) |
D58E |
probably benign |
Het |
| Obscn |
G |
T |
11: 58,934,883 (GRCm39) |
A5249D |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,683 (GRCm39) |
H142Q |
probably benign |
Het |
| Osmr |
A |
T |
15: 6,873,874 (GRCm39) |
Y174* |
probably null |
Het |
| Pi4k2a |
T |
C |
19: 42,108,275 (GRCm39) |
|
probably null |
Het |
| Pram1 |
C |
T |
17: 33,863,878 (GRCm39) |
Q572* |
probably null |
Het |
| Prdm5 |
C |
A |
6: 65,756,158 (GRCm39) |
T25K |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,771,439 (GRCm39) |
Y240H |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
| Rbck1 |
A |
C |
2: 152,160,371 (GRCm39) |
M436R |
probably benign |
Het |
| Resf1 |
T |
G |
6: 149,227,528 (GRCm39) |
S191R |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,377,488 (GRCm39) |
N64D |
possibly damaging |
Het |
| Rsph4a |
A |
G |
10: 33,784,275 (GRCm39) |
D299G |
probably damaging |
Het |
| Sema4c |
T |
C |
1: 36,590,812 (GRCm39) |
S480G |
probably benign |
Het |
| Srp68 |
T |
C |
11: 116,136,638 (GRCm39) |
D552G |
probably damaging |
Het |
| Syde2 |
G |
T |
3: 145,707,764 (GRCm39) |
A568S |
probably damaging |
Het |
| Szrd1 |
G |
T |
4: 140,867,092 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
T |
4: 118,226,813 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
A |
G |
15: 57,818,797 (GRCm39) |
E800G |
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,122 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
G |
1: 74,480,720 (GRCm39) |
V895A |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,026 (GRCm39) |
I193T |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,834 (GRCm39) |
V283A |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,814,811 (GRCm39) |
G3180D |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,344,821 (GRCm39) |
D2354A |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,723,465 (GRCm39) |
|
probably null |
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 |
|
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'- CTGCATCCCAGGTTATTATTAAGGC -3'
(R):5'- ACACTCATCAGAAGGCAGGG -3'
Sequencing Primer
(F):5'- AGGCTTATATTTGTCTTCAGTACTCC -3'
(R):5'- CTCATCAGAAGGCAGGGAGAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation