Incidental Mutation 'R5855:Naa25'
ID |
454862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naa25
|
Ensembl Gene |
ENSMUSG00000042719 |
Gene Name |
N(alpha)-acetyltransferase 25, NatB auxiliary subunit |
Synonyms |
C330023M02Rik, 4833422K13Rik |
MMRRC Submission |
043229-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5855 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
121535977-121580612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 121561755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 436
(L436R)
|
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: L436R
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000038977 Gene: ENSMUSG00000042719 AA Change: L436R
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: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.3%
|
Validation Efficiency |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
G |
7: 131,026,328 (GRCm39) |
L57R |
probably damaging |
Het |
Bmpr1b |
G |
A |
3: 141,577,146 (GRCm39) |
T55M |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,829,508 (GRCm39) |
T132I |
probably benign |
Het |
Cops4 |
A |
T |
5: 100,695,280 (GRCm39) |
M400L |
probably benign |
Het |
Cul1 |
G |
A |
6: 47,500,147 (GRCm39) |
D653N |
probably benign |
Het |
Cyp3a13 |
C |
G |
5: 137,917,318 (GRCm39) |
L36F |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,342,558 (GRCm39) |
F131L |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,861,944 (GRCm39) |
|
probably null |
Het |
Igll1 |
C |
T |
16: 16,678,921 (GRCm39) |
V130M |
probably damaging |
Het |
Kif2c |
C |
T |
4: 117,039,739 (GRCm39) |
|
probably benign |
Het |
Klra7 |
T |
C |
6: 130,195,921 (GRCm39) |
D262G |
possibly damaging |
Het |
Lrrc27 |
T |
C |
7: 138,798,251 (GRCm39) |
|
probably benign |
Het |
Maf |
A |
G |
8: 116,432,531 (GRCm39) |
S358P |
probably benign |
Het |
Map1a |
A |
G |
2: 121,134,155 (GRCm39) |
D1419G |
possibly damaging |
Het |
Map3k1 |
G |
A |
13: 111,892,513 (GRCm39) |
A914V |
probably benign |
Het |
Ndc1 |
T |
C |
4: 107,240,904 (GRCm39) |
I294T |
probably damaging |
Het |
Nek1 |
A |
C |
8: 61,469,306 (GRCm39) |
D121A |
probably damaging |
Het |
Nfil3 |
C |
T |
13: 53,122,746 (GRCm39) |
G53R |
probably benign |
Het |
Or10h28 |
T |
C |
17: 33,488,310 (GRCm39) |
V204A |
possibly damaging |
Het |
Parp14 |
A |
T |
16: 35,661,297 (GRCm39) |
Y1550* |
probably null |
Het |
Patl1 |
A |
G |
19: 11,898,880 (GRCm39) |
I192V |
probably damaging |
Het |
Pax3 |
G |
A |
1: 78,098,288 (GRCm39) |
T367I |
probably damaging |
Het |
Pla2g4a |
C |
T |
1: 149,755,814 (GRCm39) |
V208M |
probably damaging |
Het |
Prdm10 |
A |
T |
9: 31,248,619 (GRCm39) |
K347M |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,439,699 (GRCm39) |
M376K |
probably benign |
Het |
Prkg1 |
C |
T |
19: 30,872,094 (GRCm39) |
V219I |
possibly damaging |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Sox4 |
T |
C |
13: 29,136,979 (GRCm39) |
E9G |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,628,307 (GRCm39) |
D354E |
probably damaging |
Het |
Stat2 |
T |
A |
10: 128,119,363 (GRCm39) |
L450H |
probably damaging |
Het |
Tek |
T |
A |
4: 94,741,790 (GRCm39) |
M849K |
probably damaging |
Het |
Tmem63c |
G |
A |
12: 87,122,500 (GRCm39) |
D433N |
probably damaging |
Het |
Tnpo3 |
G |
A |
6: 29,589,032 (GRCm39) |
T106I |
probably damaging |
Het |
Tns1 |
G |
T |
1: 73,957,192 (GRCm39) |
A1674D |
possibly damaging |
Het |
Trim8 |
T |
C |
19: 46,503,849 (GRCm39) |
V467A |
possibly damaging |
Het |
Trmo |
T |
A |
4: 46,382,568 (GRCm39) |
H183L |
probably benign |
Het |
Trpm1 |
C |
A |
7: 63,918,710 (GRCm39) |
C683* |
probably null |
Het |
Vsig10 |
T |
G |
5: 117,476,335 (GRCm39) |
L263R |
probably damaging |
Het |
Zfp874a |
A |
T |
13: 67,590,812 (GRCm39) |
Y291N |
probably benign |
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 |
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'- AAGAGTCTCTCAGGTGTGGC -3'
(R):5'- CTCATCTAAGAGCCATGGTCTAG -3'
Sequencing Primer
(F):5'- CATGGTGTGGCCTTTGTTCATCC -3'
(R):5'- TAAGAGCCATGGTCTAGCCCAG -3'
|
Posted On |
2017-02-10 |