Incidental Mutation 'R7063:Nat10'
| ID |
548380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nat10
|
| Ensembl Gene |
ENSMUSG00000027185 |
| Gene Name |
N-acetyltransferase 10 |
| Synonyms |
|
| MMRRC Submission |
045159-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
103551601-103591615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103578422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 228
(L228F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028608]
[ENSMUST00000140895]
|
| AlphaFold |
Q8K224 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028608
AA Change: L228F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000028608
Gene: ENSMUSG00000027185
AA Change: L228F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1726
|
107 |
201 |
6.9e-39 |
PFAM |
|
low complexity region
|
226 |
242 |
N/A |
INTRINSIC |
|
Pfam:Helicase_RecD
|
281 |
488 |
1.3e-68 |
PFAM |
|
Pfam:GNAT_acetyltr_2
|
528 |
753 |
7e-103 |
PFAM |
|
Pfam:tRNA_bind_2
|
771 |
892 |
3.6e-46 |
PFAM |
|
low complexity region
|
999 |
1024 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140895
|
| SMART Domains |
Protein: ENSMUSP00000115072
Gene: ENSMUSG00000027185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1726
|
107 |
186 |
1.2e-39 |
PFAM |
|
| Meta Mutation Damage Score |
0.0878 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
| Btbd6 |
A |
G |
12: 112,941,132 (GRCm39) |
Y148C |
probably damaging |
Het |
| Casr |
T |
C |
16: 36,314,936 (GRCm39) |
I968V |
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,843,189 (GRCm39) |
|
probably null |
Het |
| Chst2 |
G |
T |
9: 95,287,621 (GRCm39) |
R242S |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,460,967 (GRCm39) |
D228V |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,532 (GRCm39) |
Y288C |
probably benign |
Het |
| Cyp2r1 |
A |
G |
7: 114,152,184 (GRCm39) |
S49P |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,233,394 (GRCm39) |
E251G |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,394,332 (GRCm39) |
R199G |
possibly damaging |
Het |
| Fat1 |
C |
T |
8: 45,493,812 (GRCm39) |
T3986I |
probably benign |
Het |
| Gbp4 |
G |
A |
5: 105,266,314 (GRCm39) |
R576C |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm6408 |
T |
C |
5: 146,420,594 (GRCm39) |
I158T |
probably benign |
Het |
| Gpr89 |
C |
G |
3: 96,783,014 (GRCm39) |
R312P |
probably damaging |
Het |
| Idh2 |
A |
G |
7: 79,745,432 (GRCm39) |
V403A |
probably damaging |
Het |
| Lclat1 |
A |
G |
17: 73,546,986 (GRCm39) |
E301G |
possibly damaging |
Het |
| Lgmn |
A |
G |
12: 102,368,937 (GRCm39) |
Y181H |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,292,639 (GRCm39) |
Y417C |
probably damaging |
Het |
| Man1a |
G |
T |
10: 53,906,840 (GRCm39) |
N311K |
probably damaging |
Het |
| Or10d3 |
T |
G |
9: 39,461,411 (GRCm39) |
Y252S |
possibly damaging |
Het |
| Or10v5 |
A |
G |
19: 11,805,548 (GRCm39) |
F281L |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,449 (GRCm39) |
D68G |
probably damaging |
Het |
| Or5p55 |
C |
A |
7: 107,567,411 (GRCm39) |
A269E |
probably benign |
Het |
| Pcmtd2 |
T |
A |
2: 181,496,776 (GRCm39) |
Y130* |
probably null |
Het |
| Potefam3f |
G |
A |
8: 20,479,013 (GRCm39) |
C7Y |
|
Het |
| Qrfprl |
A |
G |
6: 65,418,387 (GRCm39) |
|
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,652,864 (GRCm39) |
D62G |
possibly damaging |
Het |
| Serpina3m |
A |
T |
12: 104,357,726 (GRCm39) |
I217L |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,409,505 (GRCm39) |
R802G |
possibly damaging |
Het |
| Sypl2 |
A |
T |
3: 108,124,971 (GRCm39) |
M130K |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,184,386 (GRCm39) |
L503Q |
probably damaging |
Het |
| Ubald2 |
A |
G |
11: 116,325,443 (GRCm39) |
Q60R |
probably benign |
Het |
| Vav1 |
C |
T |
17: 57,618,860 (GRCm39) |
Q673* |
probably null |
Het |
| Vgll2 |
T |
C |
10: 51,904,072 (GRCm39) |
S312P |
probably benign |
Het |
| Vmn1r191 |
C |
T |
13: 22,362,864 (GRCm39) |
A297T |
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,418 (GRCm39) |
I281F |
possibly damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,701,410 (GRCm39) |
Y30C |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,650 (GRCm39) |
N619S |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,150,549 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
A |
G |
15: 76,775,919 (GRCm39) |
I654V |
possibly damaging |
Het |
| Zmat2 |
A |
G |
18: 36,929,627 (GRCm39) |
N129S |
probably null |
Het |
|
| Other mutations in Nat10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Nat10
|
APN |
2 |
103,556,109 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01062:Nat10
|
APN |
2 |
103,573,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01524:Nat10
|
APN |
2 |
103,588,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02553:Nat10
|
APN |
2 |
103,583,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03040:Nat10
|
APN |
2 |
103,587,610 (GRCm39) |
splice site |
probably benign |
|
|
diana
|
UTSW |
2 |
103,556,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
Trimmer
|
UTSW |
2 |
103,584,495 (GRCm39) |
missense |
probably null |
1.00 |
|
R0106:Nat10
|
UTSW |
2 |
103,587,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Nat10
|
UTSW |
2 |
103,587,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Nat10
|
UTSW |
2 |
103,558,262 (GRCm39) |
splice site |
probably benign |
|
|
R0422:Nat10
|
UTSW |
2 |
103,557,074 (GRCm39) |
nonsense |
probably null |
|
|
R0423:Nat10
|
UTSW |
2 |
103,578,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0788:Nat10
|
UTSW |
2 |
103,573,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0946:Nat10
|
UTSW |
2 |
103,561,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1353:Nat10
|
UTSW |
2 |
103,584,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2141:Nat10
|
UTSW |
2 |
103,561,648 (GRCm39) |
splice site |
probably null |
|
|
R2142:Nat10
|
UTSW |
2 |
103,561,648 (GRCm39) |
splice site |
probably null |
|
|
R2192:Nat10
|
UTSW |
2 |
103,556,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3904:Nat10
|
UTSW |
2 |
103,556,592 (GRCm39) |
splice site |
probably benign |
|
|
R4183:Nat10
|
UTSW |
2 |
103,570,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Nat10
|
UTSW |
2 |
103,588,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Nat10
|
UTSW |
2 |
103,584,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Nat10
|
UTSW |
2 |
103,584,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4639:Nat10
|
UTSW |
2 |
103,565,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4679:Nat10
|
UTSW |
2 |
103,562,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4711:Nat10
|
UTSW |
2 |
103,578,612 (GRCm39) |
nonsense |
probably null |
|
|
R5089:Nat10
|
UTSW |
2 |
103,587,488 (GRCm39) |
unclassified |
probably benign |
|
|
R5103:Nat10
|
UTSW |
2 |
103,587,605 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5108:Nat10
|
UTSW |
2 |
103,562,548 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5134:Nat10
|
UTSW |
2 |
103,573,638 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5823:Nat10
|
UTSW |
2 |
103,560,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Nat10
|
UTSW |
2 |
103,552,184 (GRCm39) |
unclassified |
probably benign |
|
|
R6135:Nat10
|
UTSW |
2 |
103,573,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:Nat10
|
UTSW |
2 |
103,570,231 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6592:Nat10
|
UTSW |
2 |
103,584,495 (GRCm39) |
missense |
probably null |
1.00 |
|
R6956:Nat10
|
UTSW |
2 |
103,564,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7036:Nat10
|
UTSW |
2 |
103,584,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7172:Nat10
|
UTSW |
2 |
103,563,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7226:Nat10
|
UTSW |
2 |
103,557,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7286:Nat10
|
UTSW |
2 |
103,584,514 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7448:Nat10
|
UTSW |
2 |
103,578,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7470:Nat10
|
UTSW |
2 |
103,565,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7639:Nat10
|
UTSW |
2 |
103,573,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Nat10
|
UTSW |
2 |
103,573,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Nat10
|
UTSW |
2 |
103,573,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Nat10
|
UTSW |
2 |
103,557,131 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7766:Nat10
|
UTSW |
2 |
103,556,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7787:Nat10
|
UTSW |
2 |
103,552,208 (GRCm39) |
missense |
unknown |
|
|
R7910:Nat10
|
UTSW |
2 |
103,555,490 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8506:Nat10
|
UTSW |
2 |
103,562,582 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8774:Nat10
|
UTSW |
2 |
103,561,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8774-TAIL:Nat10
|
UTSW |
2 |
103,561,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8922:Nat10
|
UTSW |
2 |
103,582,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9283:Nat10
|
UTSW |
2 |
103,556,092 (GRCm39) |
nonsense |
probably null |
|
|
R9344:Nat10
|
UTSW |
2 |
103,573,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Nat10
|
UTSW |
2 |
103,563,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Nat10
|
UTSW |
2 |
103,578,538 (GRCm39) |
missense |
probably benign |
|
|
R9696:Nat10
|
UTSW |
2 |
103,556,040 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
X0024:Nat10
|
UTSW |
2 |
103,558,226 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACGTCCTAACATGGTCCG -3'
(R):5'- CTGGCCTCTTGTAAGAAGTGTC -3'
Sequencing Primer
(F):5'- TAACATGGTCCGTGCTGC -3'
(R):5'- TGGTCATTGACGATCAGCTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation