Incidental Mutation 'IGL01787:Ythdf1'
| ID |
155094 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ythdf1
|
| Ensembl Gene |
ENSMUSG00000038848 |
| Gene Name |
YTH N6-methyladenosine RNA binding protein 1 |
| Synonyms |
2210410K23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
180546170-180562729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180553486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 216
(L216P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037299]
[ENSMUST00000108876]
[ENSMUST00000124666]
|
| AlphaFold |
P59326 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037299
AA Change: L216P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: L216P
| 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 damaging
Transcript: ENSMUST00000108876
AA Change: L243P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: L243P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,580,887 (GRCm39) |
S1772P |
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,591 (GRCm39) |
Y34N |
probably damaging |
Het |
| Epsti1 |
T |
C |
14: 78,210,052 (GRCm39) |
|
probably null |
Het |
| Mtrr |
A |
T |
13: 68,719,266 (GRCm39) |
L325Q |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,186,367 (GRCm39) |
K902E |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,867,189 (GRCm39) |
L108P |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,470 (GRCm39) |
C141S |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,655 (GRCm39) |
Y127F |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,115 (GRCm39) |
D712G |
probably benign |
Het |
| Polr3k |
T |
C |
2: 181,506,251 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,041,875 (GRCm39) |
F660V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,698,413 (GRCm39) |
D1121G |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,699,983 (GRCm39) |
D998E |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,861,765 (GRCm39) |
D14G |
probably damaging |
Het |
| Tap1 |
T |
C |
17: 34,415,578 (GRCm39) |
S641P |
probably benign |
Het |
| Tgm3 |
C |
T |
2: 129,889,660 (GRCm39) |
S618F |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 129,993,354 (GRCm39) |
|
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,717,781 (GRCm39) |
E194D |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,732 (GRCm39) |
V45E |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,319,146 (GRCm39) |
M292K |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,801,189 (GRCm39) |
D179E |
possibly damaging |
Het |
| Zfp948 |
C |
T |
17: 21,807,333 (GRCm39) |
A175V |
probably benign |
Het |
|
| Other mutations in Ythdf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R1258:Ythdf1
|
UTSW |
2 |
180,553,103 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation