Incidental Mutation 'R2307:Mettl25b'
| ID |
244619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl25b
|
| Ensembl Gene |
ENSMUSG00000004896 |
| Gene Name |
methyltransferase like 25B |
| Synonyms |
BC023814, Rrnad1 |
| MMRRC Submission |
040306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2307 (G1)
|
| Quality Score |
174 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87829908-87838024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87834162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 171
(M171K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124113
(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: M171K
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000005016
Gene: ENSMUSG00000004896
AA Change: M171K
| 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 |
possibly damaging
Transcript: ENSMUST00000160074
AA Change: M107K
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125365
Gene: ENSMUSG00000004896
AA Change: M107K
| 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: M171K
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124113
Gene: ENSMUSG00000004896
AA Change: M171K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_32
|
133 |
247 |
5e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161471
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168070
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160648
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
| Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
| Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
| Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
| Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
| Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
| Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
| Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
| Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
| Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
| Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
| Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
| Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
probably benign |
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 |
|
|
R3957:Mettl25b
|
UTSW |
3 |
87,834,135 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- AGTCTTACTCCATAGTCCCAGC -3'
(R):5'- CTTAGCGATCTCACTGGCTG -3'
Sequencing Primer
(F):5'- TTACTCCATAGTCCCAGCCAAGC -3'
(R):5'- ACTGGCTGCACCCAAGTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation