Incidental Mutation 'IGL01064:Trmt10b'
| ID |
50836 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trmt10b
|
| Ensembl Gene |
ENSMUSG00000035601 |
| Gene Name |
tRNA methyltransferase 10B |
| Synonyms |
2610042J10Rik, Rg9mtd3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
IGL01064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
45297127-45316131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45314347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 261
(Y261C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030003]
[ENSMUST00000044673]
[ENSMUST00000107800]
|
| AlphaFold |
Q9D075 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030003
|
| SMART Domains |
Protein: ENSMUSP00000030003
Gene: ENSMUSG00000028322
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S1
|
111 |
180 |
4e-36 |
BLAST |
|
Pfam:KH_6
|
196 |
243 |
3.6e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044673
AA Change: Y263C
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041052
Gene: ENSMUSG00000035601
AA Change: Y263C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
135 |
308 |
2.6e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107800
AA Change: Y261C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103429
Gene: ENSMUSG00000035601
AA Change: Y261C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
133 |
306 |
1.6e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152056
|
| SMART Domains |
Protein: ENSMUSP00000115532
Gene: ENSMUSG00000028322
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S1
|
24 |
93 |
8e-38 |
BLAST |
|
Pfam:KH_6
|
109 |
145 |
8e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,433,855 (GRCm39) |
T4137S |
probably benign |
Het |
| Abcb1a |
T |
C |
5: 8,782,388 (GRCm39) |
Y924H |
possibly damaging |
Het |
| Ash1l |
T |
G |
3: 88,979,791 (GRCm39) |
C2772G |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,187 (GRCm39) |
F106S |
probably damaging |
Het |
| Cysltr1 |
A |
T |
X: 105,622,342 (GRCm39) |
I48N |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,473,263 (GRCm39) |
I779F |
probably damaging |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,779 (GRCm39) |
L262H |
probably damaging |
Het |
| Gart |
G |
A |
16: 91,419,895 (GRCm39) |
R871C |
probably damaging |
Het |
| Get4 |
C |
T |
5: 139,238,277 (GRCm39) |
R20C |
probably damaging |
Het |
| Gm13030 |
G |
A |
4: 138,600,869 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
A |
T |
14: 43,816,455 (GRCm39) |
H49Q |
unknown |
Het |
| Gpnmb |
A |
G |
6: 49,032,593 (GRCm39) |
I506V |
probably benign |
Het |
| Ist1 |
T |
C |
8: 110,409,243 (GRCm39) |
I86V |
probably damaging |
Het |
| Kcnip1 |
C |
T |
11: 33,583,192 (GRCm39) |
D198N |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,584,828 (GRCm39) |
I184V |
possibly damaging |
Het |
| Mink1 |
A |
T |
11: 70,494,307 (GRCm39) |
M236L |
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,210 (GRCm39) |
N1507I |
probably benign |
Het |
| Nrxn2 |
G |
T |
19: 6,567,083 (GRCm39) |
E1326D |
probably damaging |
Het |
| Or10ak8 |
A |
T |
4: 118,774,091 (GRCm39) |
M191K |
possibly damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,999 (GRCm39) |
Y200F |
probably benign |
Het |
| Or5b3 |
T |
C |
19: 13,388,590 (GRCm39) |
I219T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,385,210 (GRCm39) |
S326P |
possibly damaging |
Het |
| Pdha2 |
T |
C |
3: 140,916,776 (GRCm39) |
H244R |
possibly damaging |
Het |
| Pgap4 |
C |
T |
4: 49,586,860 (GRCm39) |
V103M |
possibly damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,754 (GRCm39) |
|
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,884,492 (GRCm39) |
L746* |
probably null |
Het |
| Rad54b |
G |
A |
4: 11,604,866 (GRCm39) |
G438D |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,452,879 (GRCm39) |
V536A |
possibly damaging |
Het |
| Rundc3b |
T |
A |
5: 8,619,553 (GRCm39) |
M135L |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,222,696 (GRCm39) |
Y353C |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,159,064 (GRCm39) |
|
probably benign |
Het |
| Sytl5 |
A |
G |
X: 9,771,834 (GRCm39) |
H66R |
probably benign |
Het |
| Tlr7 |
T |
A |
X: 166,091,207 (GRCm39) |
E93V |
probably damaging |
Het |
| Tmem156 |
A |
G |
5: 65,237,327 (GRCm39) |
L76S |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,972,975 (GRCm39) |
F571S |
probably damaging |
Het |
|
| Other mutations in Trmt10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01743:Trmt10b
|
APN |
4 |
45,305,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02012:Trmt10b
|
APN |
4 |
45,315,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02174:Trmt10b
|
APN |
4 |
45,308,508 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0454:Trmt10b
|
UTSW |
4 |
45,304,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Trmt10b
|
UTSW |
4 |
45,304,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1757:Trmt10b
|
UTSW |
4 |
45,307,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Trmt10b
|
UTSW |
4 |
45,314,378 (GRCm39) |
nonsense |
probably null |
|
|
R2944:Trmt10b
|
UTSW |
4 |
45,300,445 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4781:Trmt10b
|
UTSW |
4 |
45,305,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5802:Trmt10b
|
UTSW |
4 |
45,314,236 (GRCm39) |
unclassified |
probably benign |
|
|
R6400:Trmt10b
|
UTSW |
4 |
45,308,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6460:Trmt10b
|
UTSW |
4 |
45,314,322 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7165:Trmt10b
|
UTSW |
4 |
45,308,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Trmt10b
|
UTSW |
4 |
45,308,520 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8399:Trmt10b
|
UTSW |
4 |
45,305,870 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8805:Trmt10b
|
UTSW |
4 |
45,301,281 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9778:Trmt10b
|
UTSW |
4 |
45,314,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation