Incidental Mutation 'IGL01134:Ythdf2'
| ID |
50961 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ythdf2
|
| Ensembl Gene |
ENSMUSG00000040025 |
| Gene Name |
YTH N6-methyladenosine RNA binding protein 2 |
| Synonyms |
NY-REN-2, 9430020E02Rik, HGRG8 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.502)
|
| Stock # |
IGL01134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
131912227-131939567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131932789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 124
(F124I)
|
| 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 damaging
Transcript: ENSMUST00000152796
AA Change: F124I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120414
Gene: ENSMUSG00000040025
AA Change: F124I
| 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 |
probably benign
Transcript: ENSMUST00000165072
|
| SMART Domains |
Protein: ENSMUSP00000129225
Gene: ENSMUSG00000040025
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,142,105 (GRCm39) |
H637Q |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Akap6 |
C |
A |
12: 52,984,000 (GRCm39) |
A848E |
probably damaging |
Het |
| Cxxc4 |
A |
G |
3: 133,946,420 (GRCm39) |
I334V |
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,125 (GRCm39) |
I179N |
probably damaging |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,102 (GRCm39) |
A183S |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,509,256 (GRCm39) |
N110S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,019,548 (GRCm39) |
R674S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,419,810 (GRCm39) |
Y155* |
probably null |
Het |
| Fut9 |
G |
T |
4: 25,620,446 (GRCm39) |
Q123K |
probably benign |
Het |
| Gda |
A |
G |
19: 21,394,429 (GRCm39) |
S143P |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,835,820 (GRCm39) |
|
probably null |
Het |
| Hsf2bp |
A |
G |
17: 32,206,378 (GRCm39) |
L251S |
probably damaging |
Het |
| Hsh2d |
A |
T |
8: 72,947,375 (GRCm39) |
D24V |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,501 (GRCm39) |
T264S |
probably benign |
Het |
| Med12l |
G |
A |
3: 58,949,696 (GRCm39) |
E151K |
possibly damaging |
Het |
| Mgat3 |
C |
A |
15: 80,096,377 (GRCm39) |
N401K |
probably benign |
Het |
| Mmp27 |
T |
G |
9: 7,573,298 (GRCm39) |
M130R |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,944,634 (GRCm39) |
S412T |
probably benign |
Het |
| Mrps9 |
A |
G |
1: 42,942,557 (GRCm39) |
I338M |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,893 (GRCm39) |
T395M |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,112 (GRCm39) |
I116M |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,115,587 (GRCm39) |
D230G |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,889 (GRCm39) |
V795I |
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,968,826 (GRCm39) |
R449Q |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,302,784 (GRCm39) |
R770G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,378 (GRCm39) |
S19P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,849 (GRCm39) |
S2529P |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,141,103 (GRCm39) |
F367L |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,050,320 (GRCm39) |
S838G |
probably benign |
Het |
|
| Other mutations in Ythdf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6586:Ythdf2
|
UTSW |
4 |
131,932,911 (GRCm39) |
missense |
probably benign |
0.32 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation