Incidental Mutation 'R0008:Nat9'
| ID |
8014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nat9
|
| Ensembl Gene |
ENSMUSG00000015542 |
| Gene Name |
N-acetyltransferase 9 (GCN5-related, putative) |
| Synonyms |
1110028N05Rik |
| MMRRC Submission |
038303-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R0008 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115073655-115078682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115075941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 27
(Y27N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021077]
[ENSMUST00000061450]
[ENSMUST00000100235]
[ENSMUST00000103038]
[ENSMUST00000103039]
[ENSMUST00000103040]
[ENSMUST00000103041]
|
| AlphaFold |
Q3UG98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021077
|
| SMART Domains |
Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
22 |
94 |
2.9e-20 |
SMART |
|
PDZ
|
157 |
229 |
6.03e-18 |
SMART |
|
Pfam:EBP50_C
|
230 |
355 |
1.4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061450
|
| SMART Domains |
Protein: ENSMUSP00000056805
Gene: ENSMUSG00000045980
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
13 |
77 |
3.4e-10 |
PFAM |
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
128 |
487 |
4.5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100235
|
| SMART Domains |
Protein: ENSMUSP00000097807
Gene: ENSMUSG00000045980
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
13 |
81 |
5.5e-11 |
PFAM |
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
127 |
485 |
1.2e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103038
AA Change: Y27N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099327
Gene: ENSMUSG00000015542
AA Change: Y27N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_3
|
13 |
161 |
1.4e-28 |
PFAM |
|
Pfam:Acetyltransf_1
|
57 |
161 |
4.3e-10 |
PFAM |
|
Pfam:FR47
|
86 |
169 |
2.2e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103039
AA Change: Y27N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099328
Gene: ENSMUSG00000015542
AA Change: Y27N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_3
|
13 |
161 |
9e-29 |
PFAM |
|
Pfam:Acetyltransf_1
|
81 |
161 |
2.8e-10 |
PFAM |
|
Pfam:FR47
|
86 |
169 |
2.2e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103040
AA Change: Y27N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099329
Gene: ENSMUSG00000015542
AA Change: Y27N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_3
|
13 |
161 |
1.4e-28 |
PFAM |
|
Pfam:Acetyltransf_1
|
57 |
161 |
4.3e-10 |
PFAM |
|
Pfam:FR47
|
86 |
169 |
2.2e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103041
AA Change: Y27N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099330
Gene: ENSMUSG00000015542
AA Change: Y27N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_3
|
13 |
161 |
1.4e-28 |
PFAM |
|
Pfam:Acetyltransf_1
|
57 |
161 |
4.3e-10 |
PFAM |
|
Pfam:FR47
|
86 |
169 |
2.2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135536
|
| Meta Mutation Damage Score |
0.9589 |
| Coding Region Coverage |
- 1x: 81.0%
- 3x: 72.4%
- 10x: 49.2%
- 20x: 28.4%
|
| Validation Efficiency |
90% (82/91) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,346 (GRCm39) |
K118R |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,889,976 (GRCm39) |
S87P |
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,303,125 (GRCm39) |
K196R |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,039,194 (GRCm39) |
I75N |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,203,618 (GRCm39) |
D54G |
probably benign |
Het |
| Cnot1 |
G |
T |
8: 96,487,969 (GRCm39) |
D562E |
probably damaging |
Het |
| Cp |
T |
A |
3: 20,022,287 (GRCm39) |
Y230N |
probably damaging |
Het |
| Dclre1c |
T |
C |
2: 3,439,032 (GRCm39) |
V64A |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,202,075 (GRCm39) |
L333H |
probably damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,397 (GRCm39) |
V146A |
probably damaging |
Het |
| Il11 |
T |
C |
7: 4,776,658 (GRCm39) |
S111G |
probably benign |
Het |
| Ist1 |
A |
T |
8: 110,403,418 (GRCm39) |
I273K |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,346,895 (GRCm39) |
N784Y |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,462,716 (GRCm39) |
E648G |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,449,889 (GRCm39) |
|
probably benign |
Het |
| Nipsnap3b |
T |
A |
4: 53,015,112 (GRCm39) |
L53Q |
probably damaging |
Het |
| Nlrp3 |
A |
T |
11: 59,449,274 (GRCm39) |
H852L |
probably benign |
Het |
| Pax9 |
A |
G |
12: 56,756,528 (GRCm39) |
T289A |
probably benign |
Het |
| Pcyt2 |
A |
T |
11: 120,506,695 (GRCm39) |
I53N |
possibly damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,229,756 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,369,704 (GRCm39) |
|
probably benign |
Het |
| Ppt1 |
T |
C |
4: 122,742,216 (GRCm39) |
|
probably benign |
Het |
| Prep |
T |
C |
10: 44,991,174 (GRCm39) |
V280A |
probably benign |
Het |
| Proser3 |
G |
A |
7: 30,239,563 (GRCm39) |
R514C |
probably damaging |
Het |
| Rbm45 |
T |
C |
2: 76,208,742 (GRCm39) |
Y293H |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,747,581 (GRCm39) |
L643P |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,878,884 (GRCm39) |
G208S |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,135,452 (GRCm39) |
Y287N |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,283,302 (GRCm39) |
T260A |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,064,301 (GRCm39) |
S415G |
possibly damaging |
Het |
| Tdp2 |
T |
G |
13: 25,025,333 (GRCm39) |
|
probably null |
Het |
| Tnrc6a |
G |
A |
7: 122,769,617 (GRCm39) |
R469H |
probably benign |
Het |
| Tox |
T |
A |
4: 6,842,411 (GRCm39) |
M40L |
probably benign |
Het |
| Trib2 |
A |
T |
12: 15,859,930 (GRCm39) |
H110Q |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,973,439 (GRCm39) |
I293T |
possibly damaging |
Het |
| Wdr93 |
A |
G |
7: 79,408,221 (GRCm39) |
E234G |
probably damaging |
Het |
| Zfp385b |
A |
T |
2: 77,246,291 (GRCm39) |
S245R |
probably benign |
Het |
| Zfyve9 |
T |
A |
4: 108,575,902 (GRCm39) |
E393V |
possibly damaging |
Het |
|
| Other mutations in Nat9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02086:Nat9
|
APN |
11 |
115,074,234 (GRCm39) |
splice site |
probably null |
|
|
R0008:Nat9
|
UTSW |
11 |
115,075,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Nat9
|
UTSW |
11 |
115,074,234 (GRCm39) |
splice site |
probably null |
|
|
R0233:Nat9
|
UTSW |
11 |
115,074,234 (GRCm39) |
splice site |
probably null |
|
|
R4668:Nat9
|
UTSW |
11 |
115,075,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Nat9
|
UTSW |
11 |
115,075,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4708:Nat9
|
UTSW |
11 |
115,074,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6213:Nat9
|
UTSW |
11 |
115,075,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Nat9
|
UTSW |
11 |
115,075,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8448:Nat9
|
UTSW |
11 |
115,075,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Nat9
|
UTSW |
11 |
115,075,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9224:Nat9
|
UTSW |
11 |
115,075,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Nat9
|
UTSW |
11 |
115,074,212 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-11-20 |
Incidental Mutation