Incidental Mutation 'R0102:Naa25'
| ID |
63287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naa25
|
| Ensembl Gene |
ENSMUSG00000042719 |
| Gene Name |
N(alpha)-acetyltransferase 25, NatB auxiliary subunit |
| Synonyms |
C330023M02Rik, 4833422K13Rik |
| MMRRC Submission |
038388-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0102 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121535977-121580612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121573632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 787
(D787G)
|
| 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: D787G
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000038977
Gene: ENSMUSG00000042719
AA Change: D787G
| 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: ENSMUST00000172908
|
| SMART Domains |
Protein: ENSMUSP00000134345
Gene: ENSMUSG00000042719
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174322
|
| Meta Mutation Damage Score |
0.2934 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 91.8%
|
| Validation Efficiency |
98% (65/66) |
| 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 |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,874 (GRCm39) |
K1021R |
probably damaging |
Het |
| 2610528J11Rik |
G |
A |
4: 118,386,762 (GRCm39) |
V36M |
probably damaging |
Het |
| 4930402F06Rik |
T |
A |
2: 35,265,795 (GRCm39) |
R292* |
probably null |
Het |
| Abcb4 |
T |
C |
5: 8,959,194 (GRCm39) |
F207S |
probably damaging |
Het |
| Afap1l2 |
G |
T |
19: 56,916,872 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,687,385 (GRCm39) |
H203L |
probably benign |
Het |
| Cfi |
A |
C |
3: 129,642,416 (GRCm39) |
H90P |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,520,775 (GRCm39) |
S371T |
possibly damaging |
Het |
| Cyp2d10 |
C |
T |
15: 82,288,794 (GRCm39) |
M229I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,245,897 (GRCm39) |
|
probably benign |
Het |
| Dnttip2 |
G |
T |
3: 122,069,452 (GRCm39) |
M222I |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,154,757 (GRCm39) |
Y284N |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,882,282 (GRCm39) |
Y413H |
probably benign |
Het |
| Exog |
A |
G |
9: 119,281,319 (GRCm39) |
T186A |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,334,939 (GRCm39) |
N66S |
possibly damaging |
Het |
| Gad1 |
G |
A |
2: 70,417,583 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
C |
A |
16: 36,695,830 (GRCm39) |
|
probably benign |
Het |
| Gprc5a |
A |
T |
6: 135,056,033 (GRCm39) |
N160I |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,323,258 (GRCm39) |
|
probably null |
Het |
| Klhl20 |
A |
T |
1: 160,918,015 (GRCm39) |
C90* |
probably null |
Het |
| Krt84 |
T |
A |
15: 101,437,138 (GRCm39) |
I342L |
probably damaging |
Het |
| Lifr |
G |
A |
15: 7,208,373 (GRCm39) |
D584N |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,298,997 (GRCm39) |
|
probably benign |
Het |
| Lrtm1 |
T |
A |
14: 28,744,184 (GRCm39) |
|
probably benign |
Het |
| Med25 |
C |
T |
7: 44,534,904 (GRCm39) |
V80I |
possibly damaging |
Het |
| Mest |
A |
G |
6: 30,746,269 (GRCm39) |
I279V |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,315,532 (GRCm39) |
R81G |
probably benign |
Het |
| Naaladl1 |
C |
T |
19: 6,162,534 (GRCm39) |
P465S |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Necab3 |
G |
A |
2: 154,387,232 (GRCm39) |
R302C |
probably damaging |
Het |
| Nsg1 |
A |
T |
5: 38,316,254 (GRCm39) |
D32E |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,851,000 (GRCm39) |
D290G |
probably null |
Het |
| Nup205 |
A |
T |
6: 35,202,715 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
T |
A |
14: 50,771,088 (GRCm39) |
L73Q |
probably damaging |
Het |
| Or2w6 |
T |
C |
13: 21,842,905 (GRCm39) |
D196G |
probably damaging |
Het |
| Or4a77 |
T |
C |
2: 89,486,999 (GRCm39) |
N262S |
probably benign |
Het |
| Or4c111 |
T |
C |
2: 88,844,015 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or4f57 |
G |
C |
2: 111,790,942 (GRCm39) |
Q159E |
probably damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,549 (GRCm39) |
I197N |
possibly damaging |
Het |
| Otp |
T |
C |
13: 95,013,663 (GRCm39) |
V27A |
probably benign |
Het |
| Phip |
A |
T |
9: 82,787,845 (GRCm39) |
|
probably null |
Het |
| Pon2 |
A |
G |
6: 5,289,091 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
T |
A |
1: 134,763,637 (GRCm39) |
|
probably null |
Het |
| Ppp1r15b |
A |
G |
1: 133,060,908 (GRCm39) |
N475S |
probably damaging |
Het |
| Prrt3 |
A |
T |
6: 113,474,790 (GRCm39) |
L144H |
probably damaging |
Het |
| Psmb7 |
A |
G |
2: 38,533,377 (GRCm39) |
V50A |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,442,017 (GRCm39) |
S1354R |
probably damaging |
Het |
| Sdcbp2 |
A |
G |
2: 151,425,884 (GRCm39) |
T29A |
probably benign |
Het |
| Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,794,452 (GRCm39) |
I447T |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,026,676 (GRCm39) |
V48A |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,796,751 (GRCm39) |
F260L |
probably damaging |
Het |
| Trim10 |
C |
A |
17: 37,181,074 (GRCm39) |
H102N |
probably damaging |
Het |
| Ube2u |
A |
G |
4: 100,407,122 (GRCm39) |
T215A |
possibly damaging |
Het |
| Vcan |
T |
G |
13: 89,851,787 (GRCm39) |
T1058P |
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 |
|
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 |
|
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'- AGTATTGGGACCACAGGGACACAC -3'
(R):5'- TTGCCAGTTATGCTGCCTGCAC -3'
Sequencing Primer
(F):5'- ACCCTGCTTCACTAATACATATGG -3'
(R):5'- TGGTTCCCCGTAAGTTTAGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation