Incidental Mutation 'R4250:Trmt9b'
| ID |
321308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt9b
|
| Ensembl Gene |
ENSMUSG00000039620 |
| Gene Name |
tRNA methyltransferase 9B |
| Synonyms |
6430573F11Rik |
| MMRRC Submission |
041066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36924643-36981738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36979366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 323
(T323K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135373]
[ENSMUST00000147525]
[ENSMUST00000152039]
[ENSMUST00000171777]
|
| AlphaFold |
Q80WQ4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125492
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135373
|
| SMART Domains |
Protein: ENSMUSP00000120524
Gene: ENSMUSG00000039620
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
49 |
114 |
7.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147525
AA Change: T323K
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119912
Gene: ENSMUSG00000039620
AA Change: T323K
| 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 benign
Transcript: ENSMUST00000152039
|
| SMART Domains |
Protein: ENSMUSP00000119288
Gene: ENSMUSG00000039620
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
49 |
109 |
2.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171777
AA Change: T323K
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000127875
Gene: ENSMUSG00000039620
AA Change: T323K
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2a1d |
C |
T |
9: 88,613,706 (GRCm39) |
V23I |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,936 (GRCm39) |
L552M |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,021,890 (GRCm39) |
L319Q |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,564,726 (GRCm39) |
T296A |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,365,638 (GRCm39) |
I313L |
probably benign |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Ezr |
A |
T |
17: 7,022,196 (GRCm39) |
I94N |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,233,825 (GRCm39) |
I99S |
probably damaging |
Het |
| Hba-x |
T |
C |
11: 32,228,000 (GRCm39) |
Y155H |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,893,501 (GRCm39) |
V921D |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,949,035 (GRCm39) |
T796A |
probably damaging |
Het |
| Igkv8-26 |
G |
A |
6: 70,170,230 (GRCm39) |
V7I |
probably benign |
Het |
| Ikzf1 |
C |
T |
11: 11,704,166 (GRCm39) |
T194M |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,368 (GRCm39) |
M259V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,633,857 (GRCm39) |
Y38C |
probably damaging |
Het |
| Pilra |
A |
T |
5: 137,821,814 (GRCm39) |
S274T |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,077,869 (GRCm39) |
V27A |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,559,579 (GRCm39) |
V414A |
probably benign |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Sirt1 |
T |
A |
10: 63,172,877 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
G |
5: 31,195,062 (GRCm39) |
S512P |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,267,327 (GRCm39) |
T160S |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,617 (GRCm39) |
I298V |
probably benign |
Het |
| Ttc4 |
G |
A |
4: 106,522,880 (GRCm39) |
T346I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,056 (GRCm39) |
T32977A |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 19,975,685 (GRCm39) |
K114E |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,020 (GRCm39) |
V133A |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGGCCCATGAAAATCCC -3'
(R):5'- GCTTTGGAATCGGTGGCATC -3'
Sequencing Primer
(F):5'- CCATGAAAATCCCAGAGGCTTGG -3'
(R):5'- ATCCCGTTGTGCTTCCAAAAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation