Incidental Mutation 'R5172:Ythdf3'
| ID |
398787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ythdf3
|
| Ensembl Gene |
ENSMUSG00000047213 |
| Gene Name |
YTH N6-methyladenosine RNA binding protein 3 |
| Synonyms |
9130022A11Rik |
| MMRRC Submission |
042752-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R5172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
16237376-16271201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 16258198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 119
(T119I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108345]
[ENSMUST00000108346]
[ENSMUST00000191774]
|
| AlphaFold |
Q8BYK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108345
AA Change: T115I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103982
Gene: ENSMUSG00000047213
AA Change: T115I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
394 |
N/A |
INTRINSIC |
|
Pfam:YTH
|
415 |
553 |
1.5e-50 |
PFAM |
|
low complexity region
|
567 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108346
AA Change: T126I
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103983
Gene: ENSMUSG00000047213
AA Change: T126I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
Pfam:YTH
|
427 |
562 |
1.1e-44 |
PFAM |
|
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191774
AA Change: T119I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141610
Gene: ENSMUSG00000047213
AA Change: T119I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
398 |
N/A |
INTRINSIC |
|
Pfam:YTH
|
419 |
557 |
1.6e-50 |
PFAM |
|
low complexity region
|
571 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193598
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,266,434 (GRCm39) |
Y52C |
probably damaging |
Het |
| Acmsd |
C |
T |
1: 127,681,585 (GRCm39) |
R183* |
probably null |
Het |
| Anxa2 |
T |
A |
9: 69,392,533 (GRCm39) |
D127E |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,673,945 (GRCm39) |
Y593* |
probably null |
Het |
| Atxn2 |
C |
T |
5: 121,933,098 (GRCm39) |
|
probably null |
Het |
| Ccl6 |
A |
T |
11: 83,480,169 (GRCm39) |
Y66N |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,642,113 (GRCm39) |
V223A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,269,556 (GRCm39) |
Y1187H |
probably benign |
Het |
| Cfc1 |
A |
T |
1: 34,575,011 (GRCm39) |
I10F |
probably benign |
Het |
| Chrne |
T |
A |
11: 70,506,352 (GRCm39) |
T365S |
probably benign |
Het |
| Clec4b1 |
G |
T |
6: 123,048,414 (GRCm39) |
R183L |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,371,190 (GRCm39) |
Q1926P |
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,563 (GRCm39) |
Q570L |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,797,690 (GRCm39) |
Q507L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,339,195 (GRCm39) |
V496A |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,259,016 (GRCm39) |
D589E |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,206,631 (GRCm39) |
E4G |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,569,508 (GRCm39) |
D796G |
possibly damaging |
Het |
| Lemd2 |
G |
T |
17: 27,414,356 (GRCm39) |
S326* |
probably null |
Het |
| Mdc1 |
T |
C |
17: 36,163,982 (GRCm39) |
S1177P |
probably benign |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,083 (GRCm39) |
F78S |
probably damaging |
Het |
| Mmgt2 |
T |
A |
11: 62,555,954 (GRCm39) |
F101I |
possibly damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,924 (GRCm39) |
L785P |
probably damaging |
Het |
| Nup155 |
C |
A |
15: 8,139,026 (GRCm39) |
Q33K |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,734,884 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,699,171 (GRCm39) |
T279A |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,818,202 (GRCm39) |
C112* |
probably null |
Het |
| Pcmtd1 |
T |
A |
1: 7,233,485 (GRCm39) |
M23K |
probably benign |
Het |
| Rere |
A |
T |
4: 150,654,726 (GRCm39) |
R419S |
unknown |
Het |
| Rpf1 |
T |
C |
3: 146,218,050 (GRCm39) |
R155G |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,864,961 (GRCm39) |
T421A |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,231,741 (GRCm39) |
S323P |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,764,147 (GRCm39) |
E180G |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,886,615 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sult6b2 |
A |
T |
6: 142,743,657 (GRCm39) |
V123D |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,536,951 (GRCm39) |
|
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,761 (GRCm39) |
N38I |
probably damaging |
Het |
| Wdr93 |
T |
A |
7: 79,402,241 (GRCm39) |
I180N |
probably damaging |
Het |
| Zc3h18 |
T |
G |
8: 123,134,159 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ythdf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02585:Ythdf3
|
APN |
3 |
16,243,642 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03068:Ythdf3
|
APN |
3 |
16,258,882 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Disinclined
|
UTSW |
3 |
16,257,356 (GRCm39) |
nonsense |
probably null |
|
|
R0501:Ythdf3
|
UTSW |
3 |
16,259,236 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0644:Ythdf3
|
UTSW |
3 |
16,259,056 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1667:Ythdf3
|
UTSW |
3 |
16,259,056 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1940:Ythdf3
|
UTSW |
3 |
16,259,256 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2121:Ythdf3
|
UTSW |
3 |
16,259,356 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2191:Ythdf3
|
UTSW |
3 |
16,257,375 (GRCm39) |
intron |
probably benign |
|
|
R2341:Ythdf3
|
UTSW |
3 |
16,257,379 (GRCm39) |
intron |
probably benign |
|
|
R2512:Ythdf3
|
UTSW |
3 |
16,259,059 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2850:Ythdf3
|
UTSW |
3 |
16,257,982 (GRCm39) |
splice site |
probably benign |
|
|
R3037:Ythdf3
|
UTSW |
3 |
16,259,355 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4934:Ythdf3
|
UTSW |
3 |
16,258,220 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5007:Ythdf3
|
UTSW |
3 |
16,259,362 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5164:Ythdf3
|
UTSW |
3 |
16,237,677 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5480:Ythdf3
|
UTSW |
3 |
16,237,664 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5512:Ythdf3
|
UTSW |
3 |
16,238,086 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6059:Ythdf3
|
UTSW |
3 |
16,257,356 (GRCm39) |
nonsense |
probably null |
|
|
R6104:Ythdf3
|
UTSW |
3 |
16,259,325 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6273:Ythdf3
|
UTSW |
3 |
16,259,020 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6721:Ythdf3
|
UTSW |
3 |
16,258,025 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7187:Ythdf3
|
UTSW |
3 |
16,258,451 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7285:Ythdf3
|
UTSW |
3 |
16,258,049 (GRCm39) |
splice site |
probably null |
|
|
R7307:Ythdf3
|
UTSW |
3 |
16,237,664 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7816:Ythdf3
|
UTSW |
3 |
16,243,681 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8499:Ythdf3
|
UTSW |
3 |
16,259,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8754:Ythdf3
|
UTSW |
3 |
16,258,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9401:Ythdf3
|
UTSW |
3 |
16,258,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAATGTCAGATCCATATATGCC -3'
(R):5'- GCCAGGCACCTTACTCAAAG -3'
Sequencing Primer
(F):5'- ATATATGCCTAGTTACTATGCTCCG -3'
(R):5'- GGCACCTTACTCAAAGTATCATTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation