Incidental Mutation 'R3698:Nat8f2'
| ID |
269889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nat8f2
|
| Ensembl Gene |
ENSMUSG00000033634 |
| Gene Name |
N-acetyltransferase 8 (GCN5-related) family member 2 |
| Synonyms |
Cml2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
85842404-85846119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85844778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 195
(T195S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045008]
|
| AlphaFold |
Q8CHQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045008
AA Change: T195S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000044587
Gene: ENSMUSG00000033634
AA Change: T195S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
56 |
N/A |
INTRINSIC |
|
Pfam:Acetyltransf_10
|
77 |
192 |
4.9e-14 |
PFAM |
|
Pfam:Acetyltransf_9
|
79 |
195 |
1.1e-9 |
PFAM |
|
Pfam:Acetyltransf_4
|
84 |
205 |
1.1e-9 |
PFAM |
|
Pfam:Acetyltransf_8
|
86 |
205 |
6.9e-12 |
PFAM |
|
Pfam:Acetyltransf_7
|
104 |
194 |
2e-14 |
PFAM |
|
Pfam:Acetyltransf_1
|
111 |
193 |
1e-17 |
PFAM |
|
Pfam:FR47
|
130 |
200 |
5.1e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
C |
A |
19: 56,904,955 (GRCm39) |
S549I |
possibly damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arpc1a |
G |
T |
5: 145,033,001 (GRCm39) |
K103N |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,161,722 (GRCm39) |
S136P |
probably benign |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dennd10 |
A |
G |
19: 60,821,054 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| G3bp2 |
T |
C |
5: 92,204,139 (GRCm39) |
E316G |
possibly damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,757,890 (GRCm39) |
L767P |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl13 |
G |
A |
X: 23,114,422 (GRCm39) |
T94I |
probably benign |
Het |
| Morc2a |
A |
T |
11: 3,629,672 (GRCm39) |
K364* |
probably null |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Slc13a4 |
T |
A |
6: 35,251,892 (GRCm39) |
I467F |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,114,662 (GRCm39) |
L253Q |
probably benign |
Het |
| Tnxb |
G |
T |
17: 34,909,407 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,564,595 (GRCm39) |
R28514H |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,017,643 (GRCm39) |
D51G |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,589,150 (GRCm39) |
E417G |
probably damaging |
Het |
|
| Other mutations in Nat8f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4449:Nat8f2
|
UTSW |
6 |
85,844,668 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
FR4737:Nat8f2
|
UTSW |
6 |
85,844,668 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0063:Nat8f2
|
UTSW |
6 |
85,844,815 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0063:Nat8f2
|
UTSW |
6 |
85,844,815 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0384:Nat8f2
|
UTSW |
6 |
85,845,350 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0532:Nat8f2
|
UTSW |
6 |
85,844,784 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2143:Nat8f2
|
UTSW |
6 |
85,845,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4335:Nat8f2
|
UTSW |
6 |
85,845,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Nat8f2
|
UTSW |
6 |
85,844,854 (GRCm39) |
nonsense |
probably null |
|
|
R5484:Nat8f2
|
UTSW |
6 |
85,844,994 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5714:Nat8f2
|
UTSW |
6 |
85,844,891 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6737:Nat8f2
|
UTSW |
6 |
85,845,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7676:Nat8f2
|
UTSW |
6 |
85,845,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8054:Nat8f2
|
UTSW |
6 |
85,844,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8415:Nat8f2
|
UTSW |
6 |
85,845,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9598:Nat8f2
|
UTSW |
6 |
85,844,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9710:Nat8f2
|
UTSW |
6 |
85,844,683 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Nat8f2
|
UTSW |
6 |
85,845,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAGCCTTCTGGACACAC -3'
(R):5'- AGCAGATGCAGCTCTTTCGC -3'
Sequencing Primer
(F):5'- ATCCTCAAGATGGGCAGTTGCTAC -3'
(R):5'- GATGCAGCTCTTTCGCCTGTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation