Incidental Mutation 'R3709:Naa35'
| ID |
259507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naa35
|
| Ensembl Gene |
ENSMUSG00000021555 |
| Gene Name |
N(alpha)-acetyltransferase 35, NatC auxiliary subunit |
| Synonyms |
Mak10, A330027C19Rik, C030004C14Rik, A330021G12Rik |
| MMRRC Submission |
040702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R3709 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59733147-59782612 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 59765846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022038]
[ENSMUST00000164011]
[ENSMUST00000165253]
[ENSMUST00000172419]
|
| AlphaFold |
Q6PHQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022038
|
| SMART Domains |
Protein: ENSMUSP00000022038
Gene: ENSMUSG00000021555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
45 |
145 |
2.2e-29 |
PFAM |
|
Pfam:Mak10
|
141 |
194 |
3.7e-10 |
PFAM |
|
low complexity region
|
561 |
568 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163395
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164011
|
| SMART Domains |
Protein: ENSMUSP00000127270
Gene: ENSMUSG00000021555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
1 |
119 |
1.9e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172419
|
| SMART Domains |
Protein: ENSMUSP00000126079
Gene: ENSMUSG00000021555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
40 |
193 |
1.2e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172166
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
G |
11: 48,910,480 (GRCm39) |
D651A |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,788,738 (GRCm39) |
N1039S |
probably benign |
Het |
| Abcc2 |
G |
T |
19: 43,786,885 (GRCm39) |
V169F |
possibly damaging |
Het |
| Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
| Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
| Armc8 |
A |
G |
9: 99,402,550 (GRCm39) |
I333T |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Ccdc92b |
C |
A |
11: 74,528,933 (GRCm39) |
R146S |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,381,009 (GRCm39) |
S2804P |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
| Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
| Ctdp1 |
G |
A |
18: 80,493,428 (GRCm39) |
Q356* |
probably null |
Het |
| Cyp2c69 |
A |
G |
19: 39,839,667 (GRCm39) |
|
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,620,281 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,223,815 (GRCm39) |
W1054R |
probably damaging |
Het |
| Gfral |
G |
A |
9: 76,100,725 (GRCm39) |
R238* |
probably null |
Het |
| Gm10322 |
C |
A |
10: 59,451,941 (GRCm39) |
D19E |
possibly damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
C |
9: 54,493,810 (GRCm39) |
S4P |
possibly damaging |
Het |
| Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,366,835 (GRCm39) |
T1595I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,212,400 (GRCm39) |
|
probably null |
Het |
| Klrb1a |
T |
C |
6: 128,595,466 (GRCm39) |
D96G |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
| Lrp4 |
A |
C |
2: 91,320,811 (GRCm39) |
T975P |
possibly damaging |
Het |
| Lsm14a |
T |
A |
7: 34,053,204 (GRCm39) |
I283F |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,455,015 (GRCm39) |
Q1302* |
probably null |
Het |
| Mctp1 |
T |
C |
13: 76,972,999 (GRCm39) |
|
probably null |
Het |
| Mlxip |
T |
C |
5: 123,585,537 (GRCm39) |
V642A |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
| Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,963,645 (GRCm39) |
N499K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,655,004 (GRCm39) |
M272V |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,654,800 (GRCm39) |
S722R |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,358,843 (GRCm39) |
P344S |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,709,002 (GRCm39) |
Y32H |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,229,275 (GRCm39) |
I105V |
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,032,652 (GRCm39) |
D130G |
possibly damaging |
Het |
| Trib1 |
A |
G |
15: 59,526,210 (GRCm39) |
Y260C |
probably damaging |
Het |
| Tsks |
G |
T |
7: 44,601,309 (GRCm39) |
R208L |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,577,585 (GRCm39) |
S22690* |
probably null |
Het |
| Ttyh2 |
T |
G |
11: 114,609,958 (GRCm39) |
S510A |
possibly damaging |
Het |
| Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,213,725 (GRCm39) |
C20S |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,685 (GRCm39) |
Y253* |
probably null |
Het |
|
| Other mutations in Naa35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Naa35
|
APN |
13 |
59,777,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00743:Naa35
|
APN |
13 |
59,778,485 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01335:Naa35
|
APN |
13 |
59,764,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01385:Naa35
|
APN |
13 |
59,748,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01541:Naa35
|
APN |
13 |
59,748,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02129:Naa35
|
APN |
13 |
59,757,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02867:Naa35
|
APN |
13 |
59,756,668 (GRCm39) |
intron |
probably benign |
|
|
IGL02966:Naa35
|
APN |
13 |
59,734,085 (GRCm39) |
missense |
probably benign |
|
|
IGL03260:Naa35
|
APN |
13 |
59,775,699 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0312:Naa35
|
UTSW |
13 |
59,757,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0557:Naa35
|
UTSW |
13 |
59,775,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1553:Naa35
|
UTSW |
13 |
59,766,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1611:Naa35
|
UTSW |
13 |
59,776,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1676:Naa35
|
UTSW |
13 |
59,760,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3896:Naa35
|
UTSW |
13 |
59,755,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Naa35
|
UTSW |
13 |
59,773,345 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5647:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5649:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5650:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5656:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R6734:Naa35
|
UTSW |
13 |
59,756,005 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6735:Naa35
|
UTSW |
13 |
59,773,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6985:Naa35
|
UTSW |
13 |
59,775,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7165:Naa35
|
UTSW |
13 |
59,733,997 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7531:Naa35
|
UTSW |
13 |
59,765,755 (GRCm39) |
nonsense |
probably null |
|
|
R7713:Naa35
|
UTSW |
13 |
59,745,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7739:Naa35
|
UTSW |
13 |
59,747,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Naa35
|
UTSW |
13 |
59,734,036 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8818:Naa35
|
UTSW |
13 |
59,748,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Naa35
|
UTSW |
13 |
59,775,775 (GRCm39) |
missense |
probably benign |
|
|
R9006:Naa35
|
UTSW |
13 |
59,748,842 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9132:Naa35
|
UTSW |
13 |
59,772,341 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9403:Naa35
|
UTSW |
13 |
59,748,817 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCAGTGCTGATAGCTGC -3'
(R):5'- TATGAAGACTCGGTGCTTTCC -3'
Sequencing Primer
(F):5'- TGCTGATAGCTGCATATGGC -3'
(R):5'- GAAGACTCGGTGCTTTCCTCTCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation