Incidental Mutation 'R3957:Mettl25b'
ID |
310747 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mettl25b
|
Ensembl Gene |
ENSMUSG00000004896 |
Gene Name |
methyltransferase like 25B |
Synonyms |
BC023814, Rrnad1 |
MMRRC Submission |
040931-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R3957 (G1)
|
Quality Score |
199 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
87829908-87838024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87834135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 116
(K116R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005016]
[ENSMUST00000019854]
[ENSMUST00000055984]
[ENSMUST00000119968]
[ENSMUST00000121048]
[ENSMUST00000121920]
[ENSMUST00000137775]
[ENSMUST00000160074]
[ENSMUST00000160143]
[ENSMUST00000164439]
[ENSMUST00000160648]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005016
AA Change: K180R
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000005016 Gene: ENSMUSG00000004896 AA Change: K180R
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_32
|
133 |
293 |
1.5e-29 |
PFAM |
low complexity region
|
385 |
402 |
N/A |
INTRINSIC |
low complexity region
|
412 |
426 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000019854
|
SMART Domains |
Protein: ENSMUSP00000019854 Gene: ENSMUSG00000019710
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
KOW
|
55 |
82 |
7.17e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000055984
|
SMART Domains |
Protein: ENSMUSP00000059783 Gene: ENSMUSG00000048039
Domain | Start | End | E-Value | Type |
low complexity region
|
128 |
145 |
N/A |
INTRINSIC |
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
EXOIII
|
193 |
359 |
3.34e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119968
|
SMART Domains |
Protein: ENSMUSP00000114111 Gene: ENSMUSG00000019710
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
KOW
|
55 |
82 |
7.17e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121048
|
SMART Domains |
Protein: ENSMUSP00000113959 Gene: ENSMUSG00000019710
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
KOW
|
55 |
82 |
7.17e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121920
|
SMART Domains |
Protein: ENSMUSP00000112885 Gene: ENSMUSG00000019710
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
KOW
|
55 |
82 |
7.17e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137775
|
SMART Domains |
Protein: ENSMUSP00000142071 Gene: ENSMUSG00000019710
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
PDB:4CE4|Y
|
17 |
62 |
5e-21 |
PDB |
SCOP:d1jj2s_
|
24 |
54 |
2e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161471
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159091
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159967
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160074
AA Change: K116R
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125365 Gene: ENSMUSG00000004896 AA Change: K116R
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_32
|
69 |
229 |
1.3e-29 |
PFAM |
low complexity region
|
321 |
338 |
N/A |
INTRINSIC |
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160143
AA Change: K180R
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124113 Gene: ENSMUSG00000004896 AA Change: K180R
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_32
|
133 |
247 |
5e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168070
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159831
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160068
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164439
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160648
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
Acsm4 |
A |
T |
7: 119,302,588 (GRCm39) |
M238L |
possibly damaging |
Het |
Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,117,012 (GRCm39) |
I579L |
probably benign |
Het |
Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
Cdan1 |
A |
G |
2: 120,556,113 (GRCm39) |
Y718H |
probably damaging |
Het |
Cdan1 |
G |
A |
2: 120,561,501 (GRCm39) |
|
probably benign |
Het |
Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
Dach1 |
T |
C |
14: 98,077,545 (GRCm39) |
T561A |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
Dhx29 |
C |
T |
13: 113,067,455 (GRCm39) |
A112V |
probably benign |
Het |
Fanca |
G |
A |
8: 124,043,102 (GRCm39) |
R95C |
probably benign |
Het |
Fat4 |
C |
A |
3: 39,036,495 (GRCm39) |
N3382K |
probably benign |
Het |
Fkbp15 |
A |
C |
4: 62,252,489 (GRCm39) |
F290L |
probably benign |
Het |
Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
Ighv3-4 |
T |
A |
12: 114,217,300 (GRCm39) |
Q97L |
probably damaging |
Het |
Igkv15-103 |
A |
T |
6: 68,414,903 (GRCm39) |
Y114F |
probably benign |
Het |
Kera |
G |
A |
10: 97,448,707 (GRCm39) |
R309H |
probably benign |
Het |
Kif1a |
T |
A |
1: 92,953,416 (GRCm39) |
H1256L |
probably damaging |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Lmx1b |
T |
C |
2: 33,459,106 (GRCm39) |
E149G |
probably damaging |
Het |
Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,980,589 (GRCm39) |
S307R |
probably damaging |
Het |
Mocs2 |
T |
A |
13: 114,961,803 (GRCm39) |
|
probably null |
Het |
Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
Or5d43 |
A |
G |
2: 88,105,348 (GRCm39) |
F15S |
probably damaging |
Het |
Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
Pan2 |
C |
T |
10: 128,151,046 (GRCm39) |
R806C |
probably damaging |
Het |
Plod3 |
A |
T |
5: 137,023,046 (GRCm39) |
H616L |
probably damaging |
Het |
Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
Tdrkh |
A |
G |
3: 94,335,556 (GRCm39) |
N383S |
probably damaging |
Het |
Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
Trub1 |
G |
A |
19: 57,473,798 (GRCm39) |
A239T |
possibly damaging |
Het |
Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
Usp3 |
T |
C |
9: 66,469,873 (GRCm39) |
T83A |
probably benign |
Het |
Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
Zmym6 |
T |
C |
4: 127,017,089 (GRCm39) |
S957P |
possibly damaging |
Het |
Zmynd8 |
T |
C |
2: 165,654,395 (GRCm39) |
T722A |
probably damaging |
Het |
|
Other mutations in Mettl25b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1775:Mettl25b
|
UTSW |
3 |
87,831,124 (GRCm39) |
missense |
probably damaging |
0.99 |
R2165:Mettl25b
|
UTSW |
3 |
87,834,360 (GRCm39) |
critical splice donor site |
probably null |
|
R2307:Mettl25b
|
UTSW |
3 |
87,834,162 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4651:Mettl25b
|
UTSW |
3 |
87,834,979 (GRCm39) |
missense |
probably benign |
|
R4663:Mettl25b
|
UTSW |
3 |
87,835,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R4818:Mettl25b
|
UTSW |
3 |
87,832,305 (GRCm39) |
missense |
probably benign |
0.32 |
R5387:Mettl25b
|
UTSW |
3 |
87,837,318 (GRCm39) |
intron |
probably benign |
|
R5427:Mettl25b
|
UTSW |
3 |
87,831,639 (GRCm39) |
unclassified |
probably benign |
|
R7032:Mettl25b
|
UTSW |
3 |
87,831,649 (GRCm39) |
critical splice donor site |
probably null |
|
R7048:Mettl25b
|
UTSW |
3 |
87,837,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R7953:Mettl25b
|
UTSW |
3 |
87,834,955 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8334:Mettl25b
|
UTSW |
3 |
87,835,056 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8969:Mettl25b
|
UTSW |
3 |
87,837,282 (GRCm39) |
intron |
probably benign |
|
R9110:Mettl25b
|
UTSW |
3 |
87,834,978 (GRCm39) |
missense |
probably benign |
0.03 |
R9142:Mettl25b
|
UTSW |
3 |
87,831,195 (GRCm39) |
missense |
probably benign |
0.03 |
R9181:Mettl25b
|
UTSW |
3 |
87,835,392 (GRCm39) |
intron |
probably benign |
|
R9257:Mettl25b
|
UTSW |
3 |
87,831,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATGAGTCTTACTCCATAGTCCC -3'
(R):5'- AGAAGCTTAGCGATCTCACTG -3'
Sequencing Primer
(F):5'- GTCTTACTCCATAGTCCCAGCCAAG -3'
(R):5'- ATTAGCAGGTCGGATGCCCATG -3'
|
Posted On |
2015-04-29 |