Incidental Mutation 'R0311:Ythdc1'
ID |
25191 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ythdc1
|
Ensembl Gene |
ENSMUSG00000035851 |
Gene Name |
YTH domain containing 1 |
Synonyms |
A730098D12Rik |
MMRRC Submission |
038521-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R0311 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
86952080-86984518 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86983564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 670
(D670N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039133
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038384]
[ENSMUST00000119339]
[ENSMUST00000120498]
[ENSMUST00000156363]
|
AlphaFold |
E9Q5K9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038384
AA Change: D670N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039133 Gene: ENSMUSG00000035851 AA Change: D670N
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
225 |
249 |
6e-3 |
SMART |
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
low complexity region
|
316 |
330 |
N/A |
INTRINSIC |
Pfam:YTH
|
356 |
494 |
5e-42 |
PFAM |
low complexity region
|
516 |
540 |
N/A |
INTRINSIC |
low complexity region
|
609 |
622 |
N/A |
INTRINSIC |
low complexity region
|
625 |
645 |
N/A |
INTRINSIC |
low complexity region
|
682 |
736 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000119339
AA Change: D644N
|
SMART Domains |
Protein: ENSMUSP00000113000 Gene: ENSMUSG00000035851 AA Change: D644N
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
225 |
249 |
6e-3 |
SMART |
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
Pfam:YTH
|
337 |
478 |
4.4e-44 |
PFAM |
low complexity region
|
498 |
522 |
N/A |
INTRINSIC |
low complexity region
|
583 |
596 |
N/A |
INTRINSIC |
low complexity region
|
599 |
619 |
N/A |
INTRINSIC |
low complexity region
|
656 |
710 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000120498
AA Change: D662N
|
SMART Domains |
Protein: ENSMUSP00000113951 Gene: ENSMUSG00000035851 AA Change: D662N
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
225 |
249 |
6e-3 |
SMART |
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
low complexity region
|
316 |
330 |
N/A |
INTRINSIC |
Pfam:YTH
|
355 |
496 |
4.6e-44 |
PFAM |
low complexity region
|
516 |
540 |
N/A |
INTRINSIC |
low complexity region
|
601 |
614 |
N/A |
INTRINSIC |
low complexity region
|
617 |
637 |
N/A |
INTRINSIC |
low complexity region
|
674 |
728 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151489
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156363
|
SMART Domains |
Protein: ENSMUSP00000122491 Gene: ENSMUSG00000035851
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
237 |
261 |
8e-3 |
SMART |
low complexity region
|
281 |
292 |
N/A |
INTRINSIC |
Pfam:YTH
|
350 |
488 |
3e-42 |
PFAM |
low complexity region
|
510 |
525 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1807 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 91.6%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
C |
7: 120,002,127 (GRCm39) |
M1547L |
probably damaging |
Het |
Abcb4 |
A |
G |
5: 8,984,243 (GRCm39) |
K658E |
probably benign |
Het |
Abr |
A |
G |
11: 76,399,953 (GRCm39) |
S15P |
possibly damaging |
Het |
Adgrb2 |
G |
C |
4: 129,910,922 (GRCm39) |
A1168P |
probably damaging |
Het |
Adgre4 |
A |
T |
17: 56,109,010 (GRCm39) |
E339V |
probably benign |
Het |
Asprv1 |
T |
C |
6: 86,605,822 (GRCm39) |
W223R |
probably damaging |
Het |
Ccdc89 |
A |
G |
7: 90,075,901 (GRCm39) |
E37G |
probably damaging |
Het |
Cd48 |
C |
A |
1: 171,527,148 (GRCm39) |
Y191* |
probably null |
Het |
Chd4 |
T |
C |
6: 125,078,628 (GRCm39) |
I257T |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,638,257 (GRCm39) |
M2V |
probably benign |
Het |
Dnah11 |
A |
T |
12: 118,090,868 (GRCm39) |
D1025E |
probably benign |
Het |
Erich5 |
A |
G |
15: 34,473,085 (GRCm39) |
*363W |
probably null |
Het |
Etl4 |
A |
G |
2: 20,811,940 (GRCm39) |
D1341G |
probably damaging |
Het |
Fbxw11 |
A |
G |
11: 32,672,083 (GRCm39) |
T184A |
probably benign |
Het |
Fktn |
A |
G |
4: 53,744,620 (GRCm39) |
Q300R |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gdpd3 |
G |
A |
7: 126,366,361 (GRCm39) |
R66Q |
possibly damaging |
Het |
Hexb |
A |
G |
13: 97,320,327 (GRCm39) |
|
probably benign |
Het |
Kdm4b |
A |
G |
17: 56,693,200 (GRCm39) |
R346G |
probably benign |
Het |
Mbtd1 |
T |
A |
11: 93,812,183 (GRCm39) |
|
probably null |
Het |
Med23 |
T |
A |
10: 24,773,256 (GRCm39) |
C653S |
possibly damaging |
Het |
Nwd2 |
A |
T |
5: 63,962,341 (GRCm39) |
I642L |
probably damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,460 (GRCm39) |
Y71F |
possibly damaging |
Het |
Or5b21 |
A |
G |
19: 12,839,233 (GRCm39) |
I31M |
probably benign |
Het |
Or8b48 |
T |
C |
9: 38,450,593 (GRCm39) |
V134A |
probably benign |
Het |
Pbld2 |
T |
C |
10: 62,890,286 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
Plpp2 |
C |
T |
10: 79,363,414 (GRCm39) |
R77K |
probably damaging |
Het |
Pym1 |
G |
T |
10: 128,601,853 (GRCm39) |
R168L |
possibly damaging |
Het |
Rbm4 |
T |
C |
19: 4,837,584 (GRCm39) |
Y300C |
probably damaging |
Het |
Rnf207 |
A |
G |
4: 152,400,236 (GRCm39) |
C175R |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,298,943 (GRCm39) |
I1048L |
possibly damaging |
Het |
Th |
T |
C |
7: 142,449,778 (GRCm39) |
E41G |
probably damaging |
Het |
Tmx4 |
T |
A |
2: 134,440,446 (GRCm39) |
*336L |
probably null |
Het |
Tnfrsf18 |
T |
C |
4: 156,110,872 (GRCm39) |
V10A |
possibly damaging |
Het |
Tnxb |
A |
T |
17: 34,935,958 (GRCm39) |
I2670F |
probably damaging |
Het |
Tpx2 |
T |
C |
2: 152,732,412 (GRCm39) |
V562A |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,127,846 (GRCm39) |
Y890H |
probably benign |
Het |
|
Other mutations in Ythdc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00676:Ythdc1
|
APN |
5 |
86,979,670 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02222:Ythdc1
|
APN |
5 |
86,975,902 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0091:Ythdc1
|
UTSW |
5 |
86,968,560 (GRCm39) |
intron |
probably benign |
|
R0349:Ythdc1
|
UTSW |
5 |
86,983,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R0630:Ythdc1
|
UTSW |
5 |
86,957,207 (GRCm39) |
splice site |
probably benign |
|
R1662:Ythdc1
|
UTSW |
5 |
86,975,981 (GRCm39) |
critical splice donor site |
probably null |
|
R1907:Ythdc1
|
UTSW |
5 |
86,978,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R2100:Ythdc1
|
UTSW |
5 |
86,964,544 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2911:Ythdc1
|
UTSW |
5 |
86,964,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3692:Ythdc1
|
UTSW |
5 |
86,970,526 (GRCm39) |
missense |
probably damaging |
0.98 |
R4042:Ythdc1
|
UTSW |
5 |
86,964,383 (GRCm39) |
missense |
probably benign |
0.03 |
R4398:Ythdc1
|
UTSW |
5 |
86,983,679 (GRCm39) |
utr 3 prime |
probably benign |
|
R4398:Ythdc1
|
UTSW |
5 |
86,963,513 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4608:Ythdc1
|
UTSW |
5 |
86,970,667 (GRCm39) |
missense |
probably damaging |
0.97 |
R4806:Ythdc1
|
UTSW |
5 |
86,970,704 (GRCm39) |
missense |
probably damaging |
0.99 |
R5291:Ythdc1
|
UTSW |
5 |
86,983,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R5761:Ythdc1
|
UTSW |
5 |
86,983,810 (GRCm39) |
utr 3 prime |
probably benign |
|
R6180:Ythdc1
|
UTSW |
5 |
86,975,953 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6249:Ythdc1
|
UTSW |
5 |
86,979,815 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6560:Ythdc1
|
UTSW |
5 |
86,964,467 (GRCm39) |
missense |
probably benign |
0.06 |
R7145:Ythdc1
|
UTSW |
5 |
86,964,467 (GRCm39) |
missense |
probably benign |
0.06 |
R8072:Ythdc1
|
UTSW |
5 |
86,969,133 (GRCm39) |
nonsense |
probably null |
|
R8225:Ythdc1
|
UTSW |
5 |
86,964,797 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8225:Ythdc1
|
UTSW |
5 |
86,964,796 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8229:Ythdc1
|
UTSW |
5 |
86,957,167 (GRCm39) |
intron |
probably benign |
|
R8246:Ythdc1
|
UTSW |
5 |
86,965,181 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8284:Ythdc1
|
UTSW |
5 |
86,964,325 (GRCm39) |
missense |
probably benign |
0.18 |
R8385:Ythdc1
|
UTSW |
5 |
86,975,961 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8546:Ythdc1
|
UTSW |
5 |
86,974,607 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGAAAGGGTGTGTTGCACAAAGG -3'
(R):5'- AAAAGAGTCAACCCAACTGTCAACTGT -3'
Sequencing Primer
(F):5'- GAAATTACAGGAATACATGGTGCTC -3'
(R):5'- TCCCctcggtctctgtcc -3'
|
Posted On |
2013-04-16 |