Incidental Mutation 'R1258:Ythdf1'
ID |
151514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ythdf1
|
Ensembl Gene |
ENSMUSG00000038848 |
Gene Name |
YTH N6-methyladenosine RNA binding protein 1 |
Synonyms |
2210410K23Rik |
MMRRC Submission |
039325-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1258 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
180546170-180562729 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 180553103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 371
(A371S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037299]
[ENSMUST00000108876]
[ENSMUST00000124666]
|
AlphaFold |
P59326 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037299
AA Change: A344S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000037808 Gene: ENSMUSG00000038848 AA Change: A344S
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
low complexity region
|
133 |
153 |
N/A |
INTRINSIC |
low complexity region
|
279 |
326 |
N/A |
INTRINSIC |
Pfam:YTH
|
388 |
526 |
4.2e-51 |
PFAM |
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108876
AA Change: A371S
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000104504 Gene: ENSMUSG00000038848 AA Change: A371S
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
low complexity region
|
160 |
180 |
N/A |
INTRINSIC |
low complexity region
|
306 |
353 |
N/A |
INTRINSIC |
Pfam:YTH
|
416 |
551 |
1.9e-46 |
PFAM |
low complexity region
|
567 |
584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124666
|
SMART Domains |
Protein: ENSMUSP00000116665 Gene: ENSMUSG00000038848
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
low complexity region
|
126 |
146 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
T |
C |
7: 133,539,176 (GRCm39) |
E112G |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,390,122 (GRCm39) |
N17D |
probably benign |
Het |
Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
Igsf9 |
G |
A |
1: 172,319,722 (GRCm39) |
R339H |
probably benign |
Het |
Inpp5a |
G |
T |
7: 139,105,660 (GRCm39) |
G212C |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,723,464 (GRCm39) |
E1133G |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Pcdhb17 |
A |
T |
18: 37,618,587 (GRCm39) |
I126L |
probably damaging |
Het |
Qtrt2 |
A |
G |
16: 43,689,446 (GRCm39) |
V184A |
possibly damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Sall3 |
G |
A |
18: 81,017,280 (GRCm39) |
A216V |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
St8sia6 |
T |
C |
2: 13,661,695 (GRCm39) |
M379V |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,154,225 (GRCm39) |
L2144H |
probably damaging |
Het |
Ypel1 |
A |
T |
16: 16,923,917 (GRCm39) |
L44H |
probably damaging |
Het |
Zdhhc16 |
G |
A |
19: 41,926,483 (GRCm39) |
V89M |
possibly damaging |
Het |
Zfp37 |
A |
T |
4: 62,110,054 (GRCm39) |
Y375N |
probably damaging |
Het |
Zmat3 |
A |
T |
3: 32,397,820 (GRCm39) |
N147K |
probably damaging |
Het |
|
Other mutations in Ythdf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01787:Ythdf1
|
APN |
2 |
180,553,486 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03066:Ythdf1
|
APN |
2 |
180,553,339 (GRCm39) |
missense |
probably damaging |
1.00 |
Agitated
|
UTSW |
2 |
180,560,926 (GRCm39) |
critical splice donor site |
probably null |
|
R1541:Ythdf1
|
UTSW |
2 |
180,560,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R1738:Ythdf1
|
UTSW |
2 |
180,553,285 (GRCm39) |
missense |
probably benign |
0.00 |
R1856:Ythdf1
|
UTSW |
2 |
180,552,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R2169:Ythdf1
|
UTSW |
2 |
180,553,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R4606:Ythdf1
|
UTSW |
2 |
180,553,975 (GRCm39) |
missense |
probably damaging |
0.97 |
R5296:Ythdf1
|
UTSW |
2 |
180,553,981 (GRCm39) |
missense |
probably damaging |
0.98 |
R6250:Ythdf1
|
UTSW |
2 |
180,552,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R6254:Ythdf1
|
UTSW |
2 |
180,552,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R6702:Ythdf1
|
UTSW |
2 |
180,560,926 (GRCm39) |
critical splice donor site |
probably null |
|
R7102:Ythdf1
|
UTSW |
2 |
180,553,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R7409:Ythdf1
|
UTSW |
2 |
180,553,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R9069:Ythdf1
|
UTSW |
2 |
180,552,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R9356:Ythdf1
|
UTSW |
2 |
180,553,998 (GRCm39) |
missense |
probably benign |
0.39 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGATGATGAACACCCGCCCAC -3'
(R):5'- CCTGAAGATTGGGGATGTTACCACC -3'
Sequencing Primer
(F):5'- TAGGGTTATAGCTGTGGGCA -3'
(R):5'- AACTTCATGGGCAGCCATTG -3'
|
Posted On |
2014-01-29 |