Incidental Mutation 'R1392:Tmt1b'
| ID |
200890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmt1b
|
| Ensembl Gene |
ENSMUSG00000025347 |
| Gene Name |
thiol methyltransferase 1B |
| Synonyms |
Mettl7b, 0610006F02Rik |
| MMRRC Submission |
039454-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1392 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128794146-128796857 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128796567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 81
(T81A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026398]
[ENSMUST00000099112]
[ENSMUST00000218290]
|
| AlphaFold |
Q9DD20 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026398
AA Change: T81A
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026398
Gene: ENSMUSG00000025347
AA Change: T81A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Ubie_methyltran
|
40 |
193 |
2.8e-9 |
PFAM |
|
Pfam:Methyltransf_23
|
43 |
222 |
5.5e-20 |
PFAM |
|
Pfam:Methyltransf_31
|
68 |
225 |
1.6e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
71 |
175 |
4.6e-10 |
PFAM |
|
Pfam:Methyltransf_25
|
74 |
168 |
2.3e-10 |
PFAM |
|
Pfam:Methyltransf_12
|
75 |
170 |
8.8e-16 |
PFAM |
|
Pfam:Methyltransf_11
|
75 |
172 |
1.9e-22 |
PFAM |
|
Pfam:Methyltransf_8
|
120 |
192 |
3.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099112
|
| SMART Domains |
Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348
| Domain | Start | End | E-Value | Type |
|---|
|
Int_alpha
|
48 |
110 |
4.11e-6 |
SMART |
|
Int_alpha
|
259 |
312 |
3.72e-4 |
SMART |
|
Int_alpha
|
316 |
372 |
1.16e-14 |
SMART |
|
Int_alpha
|
377 |
430 |
9.21e-18 |
SMART |
|
Int_alpha
|
435 |
490 |
4.38e-1 |
SMART |
|
low complexity region
|
510 |
523 |
N/A |
INTRINSIC |
|
SCOP:d1m1xa3
|
807 |
1039 |
6e-50 |
SMART |
|
low complexity region
|
1041 |
1058 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219427
|
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 97.1%
- 10x: 95.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930005H10Rik |
T |
C |
3: 115,681,653 (GRCm39) |
|
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,772,311 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,663,946 (GRCm39) |
V74A |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,579,304 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
A |
T |
17: 33,877,389 (GRCm39) |
S325T |
possibly damaging |
Het |
| Hunk |
T |
C |
16: 90,269,352 (GRCm39) |
S299P |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,905,031 (GRCm39) |
V207I |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,800 (GRCm39) |
H520R |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,332,014 (GRCm39) |
|
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,063 (GRCm39) |
F311L |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,187 (GRCm39) |
Y58N |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,919 (GRCm39) |
L83P |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,880 (GRCm39) |
H607R |
possibly damaging |
Het |
| Rsad2 |
A |
G |
12: 26,495,439 (GRCm39) |
V352A |
probably benign |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,856 (GRCm39) |
L136P |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,991,271 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,647,349 (GRCm39) |
V993I |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,464,472 (GRCm39) |
H67R |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,596,624 (GRCm39) |
S144T |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,830 (GRCm39) |
T239A |
probably benign |
Het |
|
| Other mutations in Tmt1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01705:Tmt1b
|
APN |
10 |
128,794,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02157:Tmt1b
|
APN |
10 |
128,796,486 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1392:Tmt1b
|
UTSW |
10 |
128,796,567 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2210:Tmt1b
|
UTSW |
10 |
128,794,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Tmt1b
|
UTSW |
10 |
128,796,571 (GRCm39) |
nonsense |
probably null |
|
|
R5075:Tmt1b
|
UTSW |
10 |
128,796,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Tmt1b
|
UTSW |
10 |
128,796,476 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9327:Tmt1b
|
UTSW |
10 |
128,794,607 (GRCm39) |
missense |
probably benign |
0.30 |
|
Z1176:Tmt1b
|
UTSW |
10 |
128,794,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTCAGCCAGTTGTTTCATGTTC -3'
(R):5'- AAAAGCCAGTGACACTGTATGACCC -3'
Sequencing Primer
(F):5'- TTCTCTCCGTAAGCCACAATGAAG -3'
(R):5'- ACTCTAGTGTTCCACGAGACG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation