Incidental Mutation 'R4432:Trmt9b'
| ID |
328657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt9b
|
| Ensembl Gene |
ENSMUSG00000039620 |
| Gene Name |
tRNA methyltransferase 9B |
| Synonyms |
6430573F11Rik |
| MMRRC Submission |
041701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4432 (G1)
|
| Quality Score |
172 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
36924643-36981738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36965632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 51
(I51F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135373]
[ENSMUST00000147525]
[ENSMUST00000152039]
[ENSMUST00000171777]
|
| AlphaFold |
Q80WQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135373
AA Change: I51F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120524
Gene: ENSMUSG00000039620
AA Change: I51F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
49 |
114 |
7.7e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147525
AA Change: I51F
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119912
Gene: ENSMUSG00000039620
AA Change: I51F
| 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: I51F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119288
Gene: ENSMUSG00000039620
AA Change: I51F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
49 |
109 |
2.9e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171777
AA Change: I51F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127875
Gene: ENSMUSG00000039620
AA Change: I51F
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,132,414 (GRCm39) |
M294V |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
| Acsm4 |
A |
C |
7: 119,310,610 (GRCm39) |
E499A |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
G |
A |
4: 47,044,905 (GRCm39) |
Q334* |
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,626,737 (GRCm39) |
I155L |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,323,653 (GRCm39) |
R74H |
probably damaging |
Het |
| Cdk14 |
A |
G |
5: 5,086,427 (GRCm39) |
W298R |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,022,641 (GRCm39) |
N12D |
probably benign |
Het |
| Cibar2 |
C |
A |
8: 120,901,594 (GRCm39) |
R37L |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,596 (GRCm39) |
D380G |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,402,600 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
C |
1: 161,819,566 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,175,456 (GRCm39) |
Y660H |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,080,215 (GRCm39) |
Y202S |
probably damaging |
Het |
| Hnrnpa0 |
T |
C |
13: 58,275,751 (GRCm39) |
K126R |
probably benign |
Het |
| Insc |
C |
T |
7: 114,368,290 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
G |
A |
11: 120,606,047 (GRCm39) |
|
probably null |
Het |
| Mapkap1 |
T |
C |
2: 34,509,875 (GRCm39) |
L263P |
probably damaging |
Het |
| Nmur1 |
A |
G |
1: 86,315,287 (GRCm39) |
S160P |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,078 (GRCm39) |
M206K |
possibly damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
| Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,135,421 (GRCm39) |
D196G |
probably damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,563,610 (GRCm39) |
F199L |
probably damaging |
Het |
| Phf11c |
A |
T |
14: 59,628,384 (GRCm39) |
N88K |
possibly damaging |
Het |
| Prl8a8 |
T |
A |
13: 27,694,463 (GRCm39) |
Y109F |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,424,460 (GRCm39) |
|
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,946,813 (GRCm39) |
D558G |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,880,109 (GRCm39) |
F263S |
probably benign |
Het |
| Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,757,323 (GRCm38) |
N520K |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,241,428 (GRCm39) |
S1679P |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,412 (GRCm39) |
F173S |
possibly damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,482,918 (GRCm39) |
N19Y |
probably damaging |
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 |
|
IGL03401:Trmt9b
|
APN |
8 |
36,972,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCTGAGCATGTACAAGG -3'
(R):5'- TGCAGACTTTGATGATGGCTG -3'
Sequencing Primer
(F):5'- GCATGTACAAGGCATCACATCTATG -3'
(R):5'- CACCGGGCTTCTTTTTAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation