Incidental Mutation 'IGL03401:Trmt9b'
| ID |
421433 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trmt9b
|
| Ensembl Gene |
ENSMUSG00000039620 |
| Gene Name |
tRNA methyltransferase 9B |
| Synonyms |
6430573F11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL03401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
36924643-36981738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 36972823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 91
(D91A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135373]
[ENSMUST00000147525]
[ENSMUST00000152039]
[ENSMUST00000171777]
|
| AlphaFold |
Q80WQ4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125492
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135373
AA Change: D91A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120524
Gene: ENSMUSG00000039620
AA Change: D91A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
49 |
114 |
7.7e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147525
AA Change: D91A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119912
Gene: ENSMUSG00000039620
AA Change: D91A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_8
|
4 |
158 |
3.6e-9 |
PFAM |
|
Pfam:Ubie_methyltran
|
9 |
153 |
2.9e-7 |
PFAM |
|
Pfam:Methyltransf_23
|
23 |
184 |
4.2e-12 |
PFAM |
|
Pfam:Methyltransf_31
|
42 |
186 |
1.3e-10 |
PFAM |
|
Pfam:Methyltransf_25
|
48 |
135 |
4.2e-9 |
PFAM |
|
Pfam:Methyltransf_12
|
49 |
137 |
4.1e-11 |
PFAM |
|
Pfam:Methyltransf_11
|
49 |
139 |
3.6e-18 |
PFAM |
|
low complexity region
|
377 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152039
AA Change: D91A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119288
Gene: ENSMUSG00000039620
AA Change: D91A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
49 |
109 |
2.9e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171777
AA Change: D91A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127875
Gene: ENSMUSG00000039620
AA Change: D91A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_8
|
4 |
158 |
3.6e-9 |
PFAM |
|
Pfam:Ubie_methyltran
|
9 |
153 |
2.9e-7 |
PFAM |
|
Pfam:Methyltransf_23
|
23 |
186 |
1.5e-11 |
PFAM |
|
Pfam:Methyltransf_31
|
42 |
186 |
3.5e-10 |
PFAM |
|
Pfam:Methyltransf_25
|
48 |
135 |
4.3e-9 |
PFAM |
|
Pfam:Methyltransf_12
|
49 |
137 |
4.1e-11 |
PFAM |
|
Pfam:Methyltransf_11
|
49 |
139 |
3.2e-18 |
PFAM |
|
low complexity region
|
377 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
430 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,223 (GRCm39) |
R581* |
probably null |
Het |
| Actn1 |
A |
T |
12: 80,215,741 (GRCm39) |
L799* |
probably null |
Het |
| Adam12 |
A |
T |
7: 133,518,192 (GRCm39) |
N327K |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,763,849 (GRCm39) |
V1314A |
probably damaging |
Het |
| Agbl4 |
G |
T |
4: 110,976,216 (GRCm39) |
R191L |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,847,786 (GRCm39) |
I611T |
probably damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,330,953 (GRCm39) |
S556T |
possibly damaging |
Het |
| AW209491 |
A |
G |
13: 14,812,041 (GRCm39) |
D298G |
probably benign |
Het |
| Cc2d1a |
A |
G |
8: 84,861,258 (GRCm39) |
M763T |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,336,127 (GRCm39) |
D388G |
probably benign |
Het |
| Cept1 |
T |
C |
3: 106,440,706 (GRCm39) |
E151G |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,174,526 (GRCm39) |
K139E |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
| Enpep |
T |
A |
3: 129,106,269 (GRCm39) |
Q319L |
probably benign |
Het |
| F13a1 |
A |
G |
13: 37,082,054 (GRCm39) |
I550T |
probably benign |
Het |
| Fbxw19 |
A |
G |
9: 109,324,038 (GRCm39) |
|
probably null |
Het |
| Frem3 |
T |
G |
8: 81,341,170 (GRCm39) |
D1154E |
probably damaging |
Het |
| Frmpd1 |
G |
T |
4: 45,284,383 (GRCm39) |
C1068F |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,820,814 (GRCm39) |
P5516T |
probably benign |
Het |
| Hyou1 |
G |
A |
9: 44,296,206 (GRCm39) |
A429T |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,000,790 (GRCm39) |
E2145K |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,563,776 (GRCm39) |
V2397D |
unknown |
Het |
| Mcm3ap |
T |
C |
10: 76,320,483 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
T |
G |
3: 51,571,933 (GRCm39) |
S20R |
possibly damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,070,987 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
A |
8: 95,036,339 (GRCm39) |
|
probably null |
Het |
| Or1e1f |
T |
C |
11: 73,856,388 (GRCm39) |
|
probably benign |
Het |
| Papola |
A |
T |
12: 105,795,381 (GRCm39) |
T611S |
probably benign |
Het |
| Pik3ca |
C |
A |
3: 32,491,963 (GRCm39) |
|
probably null |
Het |
| Pklr |
T |
C |
3: 89,050,036 (GRCm39) |
V337A |
probably benign |
Het |
| Prl7b1 |
A |
G |
13: 27,785,964 (GRCm39) |
Y235H |
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,326 (GRCm39) |
Y447C |
possibly damaging |
Het |
| Pum1 |
T |
C |
4: 130,470,992 (GRCm39) |
|
probably benign |
Het |
| Rimklb |
A |
T |
6: 122,441,077 (GRCm39) |
I32N |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,114,951 (GRCm39) |
D644E |
possibly damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Shbg |
A |
G |
11: 69,505,925 (GRCm39) |
S361P |
probably damaging |
Het |
| Zfp647 |
T |
A |
15: 76,795,568 (GRCm39) |
H364L |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,160 (GRCm39) |
S267T |
probably benign |
Het |
|
| Other mutations in Trmt9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Trmt9b
|
APN |
8 |
36,979,453 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01360:Trmt9b
|
APN |
8 |
36,979,713 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01364:Trmt9b
|
APN |
8 |
36,979,501 (GRCm39) |
missense |
probably benign |
0.03 |
|
Bear_market
|
UTSW |
8 |
36,965,637 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2161:Trmt9b
|
UTSW |
8 |
36,972,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Trmt9b
|
UTSW |
8 |
36,979,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Trmt9b
|
UTSW |
8 |
36,979,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4250:Trmt9b
|
UTSW |
8 |
36,979,366 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4432:Trmt9b
|
UTSW |
8 |
36,965,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Trmt9b
|
UTSW |
8 |
36,972,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5242:Trmt9b
|
UTSW |
8 |
36,979,084 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5261:Trmt9b
|
UTSW |
8 |
36,979,078 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5482:Trmt9b
|
UTSW |
8 |
36,979,203 (GRCm39) |
missense |
probably benign |
|
|
R5579:Trmt9b
|
UTSW |
8 |
36,979,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5594:Trmt9b
|
UTSW |
8 |
36,979,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5797:Trmt9b
|
UTSW |
8 |
36,965,569 (GRCm39) |
nonsense |
probably null |
|
|
R6481:Trmt9b
|
UTSW |
8 |
36,965,637 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7504:Trmt9b
|
UTSW |
8 |
36,979,309 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8119:Trmt9b
|
UTSW |
8 |
36,965,576 (GRCm39) |
nonsense |
probably null |
|
|
R8169:Trmt9b
|
UTSW |
8 |
36,978,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8962:Trmt9b
|
UTSW |
8 |
36,972,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Trmt9b
|
UTSW |
8 |
36,978,954 (GRCm39) |
nonsense |
probably null |
|
|
R9035:Trmt9b
|
UTSW |
8 |
36,978,954 (GRCm39) |
nonsense |
probably null |
|
|
R9647:Trmt9b
|
UTSW |
8 |
36,979,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0057:Trmt9b
|
UTSW |
8 |
36,979,142 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Trmt9b
|
UTSW |
8 |
36,979,010 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2016-08-02 |
Incidental Mutation