Incidental Mutation 'R6586:Ythdf2'
ID |
524387 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ythdf2
|
Ensembl Gene |
ENSMUSG00000040025 |
Gene Name |
YTH N6-methyladenosine RNA binding protein 2 |
Synonyms |
NY-REN-2, 9430020E02Rik, HGRG8 |
MMRRC Submission |
044710-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.502)
|
Stock # |
R6586 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
131912227-131939567 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 131932911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 83
(M83K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120414
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085181]
[ENSMUST00000152796]
|
AlphaFold |
Q91YT7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085181
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102570
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152796
AA Change: M83K
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000120414 Gene: ENSMUSG00000040025 AA Change: M83K
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
low complexity region
|
135 |
153 |
N/A |
INTRINSIC |
low complexity region
|
324 |
349 |
N/A |
INTRINSIC |
Pfam:YTH
|
410 |
545 |
1.1e-45 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000165072
AA Change: M58K
|
SMART Domains |
Protein: ENSMUSP00000129225 Gene: ENSMUSG00000040025 AA Change: M58K
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4365 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the YTH (YT521-B homology) superfamily containing YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding to RNA. In addition to a YTH domain, this protein has a proline rich region which may be involved in signal transduction. An Alu-rich domain has been identified in one of the introns of this gene, which is thought to be associated with human longevity. In addition, reciprocal translocations between this gene and the Runx1 (AML1) gene on chromosome 21 has been observed in patients with acute myeloid leukemia. This gene was initially mapped to chromosome 14, which was later turned out to be a pseudogene. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Oct 2012] PHENOTYPE: Mice homozgyous for a knock-out allele exhibit female, but not male, infertility and preweaning lethality that is background sensitive. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
Acaa1a |
A |
G |
9: 119,178,604 (GRCm39) |
|
probably null |
Het |
Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
Egfem1 |
T |
A |
3: 29,716,560 (GRCm39) |
C343* |
probably null |
Het |
Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
Mterf2 |
A |
G |
10: 84,955,970 (GRCm39) |
F218S |
probably damaging |
Het |
Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
Nrip2 |
T |
A |
6: 128,381,911 (GRCm39) |
C85* |
probably null |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
Palm |
A |
C |
10: 79,645,365 (GRCm39) |
N111H |
probably benign |
Het |
Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
Psg28 |
T |
C |
7: 18,164,469 (GRCm39) |
Y81C |
probably damaging |
Het |
Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
Styxl2 |
T |
C |
1: 165,928,454 (GRCm39) |
E386G |
possibly damaging |
Het |
Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
Trim60 |
G |
T |
8: 65,453,248 (GRCm39) |
L334I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
|
Other mutations in Ythdf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01134:Ythdf2
|
APN |
4 |
131,932,789 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01356:Ythdf2
|
APN |
4 |
131,932,661 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01925:Ythdf2
|
APN |
4 |
131,938,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02156:Ythdf2
|
APN |
4 |
131,931,819 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02183:Ythdf2
|
APN |
4 |
131,932,885 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02397:Ythdf2
|
APN |
4 |
131,938,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R0492:Ythdf2
|
UTSW |
4 |
131,931,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R1246:Ythdf2
|
UTSW |
4 |
131,932,182 (GRCm39) |
missense |
probably benign |
0.37 |
R6738:Ythdf2
|
UTSW |
4 |
131,932,272 (GRCm39) |
missense |
probably benign |
0.11 |
R8103:Ythdf2
|
UTSW |
4 |
131,932,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R8406:Ythdf2
|
UTSW |
4 |
131,931,946 (GRCm39) |
missense |
probably damaging |
0.97 |
R8916:Ythdf2
|
UTSW |
4 |
131,931,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGAACTGTTATTTCCCCATGCTG -3'
(R):5'- TTTGTAGTGATGGCTCAACTCC -3'
Sequencing Primer
(F):5'- TGCTGAGAAGTCAATCCCACTGG -3'
(R):5'- GTAGTGATGGCTCAACTCCTTAAG -3'
|
Posted On |
2018-06-22 |