Incidental Mutation 'R2161:Trmt9b'
ID |
235156 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt9b
|
Ensembl Gene |
ENSMUSG00000039620 |
Gene Name |
tRNA methyltransferase 9B |
Synonyms |
6430573F11Rik |
MMRRC Submission |
040164-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R2161 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
36924643-36981738 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36972804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 85
(C85R)
|
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 |
possibly damaging
Transcript: ENSMUST00000135373
AA Change: C85R
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120524 Gene: ENSMUSG00000039620 AA Change: C85R
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_11
|
49 |
114 |
7.7e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147525
AA Change: C85R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119912 Gene: ENSMUSG00000039620 AA Change: C85R
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 |
possibly damaging
Transcript: ENSMUST00000152039
AA Change: C85R
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119288 Gene: ENSMUSG00000039620 AA Change: C85R
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_11
|
49 |
109 |
2.9e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171777
AA Change: C85R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127875 Gene: ENSMUSG00000039620 AA Change: C85R
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
G |
15: 11,215,821 (GRCm39) |
M281V |
probably damaging |
Het |
Ap1g1 |
A |
T |
8: 110,570,986 (GRCm39) |
D423V |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,968,030 (GRCm39) |
|
probably null |
Het |
Arhgap33 |
T |
C |
7: 30,228,075 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
T |
G |
8: 3,489,575 (GRCm39) |
Y302* |
probably null |
Het |
Blm |
T |
C |
7: 80,131,118 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
G |
9: 15,264,354 (GRCm39) |
E97D |
probably damaging |
Het |
Cep295nl |
T |
C |
11: 118,223,335 (GRCm39) |
D503G |
possibly damaging |
Het |
Chchd2 |
G |
T |
5: 129,912,989 (GRCm39) |
A29E |
probably damaging |
Het |
Cic |
A |
G |
7: 24,987,559 (GRCm39) |
|
probably null |
Het |
Cmtr1 |
C |
T |
17: 29,921,147 (GRCm39) |
L798F |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,771 (GRCm39) |
|
probably benign |
Het |
Crispld2 |
A |
G |
8: 120,742,078 (GRCm39) |
Y142C |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
A |
13: 38,380,427 (GRCm39) |
D1792N |
probably damaging |
Het |
Esp4 |
C |
A |
17: 40,913,284 (GRCm39) |
N50K |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,451 (GRCm39) |
S404P |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,725,259 (GRCm39) |
F639L |
probably benign |
Het |
Golph3l |
G |
A |
3: 95,524,436 (GRCm39) |
G229D |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,459,838 (GRCm39) |
S433R |
probably benign |
Het |
Kdm2b |
T |
A |
5: 123,018,762 (GRCm39) |
S233C |
probably damaging |
Het |
Krt14 |
C |
T |
11: 100,097,939 (GRCm39) |
G115R |
unknown |
Het |
Ldb3 |
A |
G |
14: 34,289,353 (GRCm39) |
|
probably null |
Het |
Lrp1 |
T |
A |
10: 127,391,607 (GRCm39) |
E2937D |
probably damaging |
Het |
Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
Naa20 |
T |
A |
2: 145,753,715 (GRCm39) |
|
probably null |
Het |
Ndufa8 |
A |
T |
2: 35,926,527 (GRCm39) |
W170R |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,328,041 (GRCm39) |
L671I |
probably damaging |
Het |
Or52e19b |
T |
A |
7: 103,032,407 (GRCm39) |
R267S |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,673 (GRCm39) |
I214K |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptpro |
A |
G |
6: 137,426,885 (GRCm39) |
D280G |
probably benign |
Het |
Reps1 |
A |
G |
10: 17,972,031 (GRCm39) |
E361G |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,138,578 (GRCm39) |
E304G |
probably damaging |
Het |
Siglece |
T |
C |
7: 43,308,793 (GRCm39) |
T187A |
probably benign |
Het |
Slc5a10 |
C |
T |
11: 61,610,760 (GRCm39) |
G5R |
probably null |
Het |
Sohlh1 |
A |
G |
2: 25,734,648 (GRCm39) |
I215T |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,771,648 (GRCm39) |
V691D |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmed8 |
A |
G |
12: 87,221,031 (GRCm39) |
V185A |
probably damaging |
Het |
Trim71 |
A |
G |
9: 114,341,840 (GRCm39) |
F814S |
probably damaging |
Het |
Tsnax |
A |
T |
8: 125,742,428 (GRCm39) |
K52N |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,682,292 (GRCm39) |
T676A |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTGTTCTCTGAAGTGTTGCATC -3'
(R):5'- CAGGAGTCAAATAAGTCATGCG -3'
Sequencing Primer
(F):5'- AAGTGTTGCATCTTGGTCATTTAC -3'
(R):5'- ATGATAGCATCGAAGCCC -3'
|
Posted On |
2014-10-01 |