Incidental Mutation 'R8246:Ythdc1'
| ID |
640757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ythdc1
|
| Ensembl Gene |
ENSMUSG00000035851 |
| Gene Name |
YTH domain containing 1 |
| Synonyms |
A730098D12Rik |
| MMRRC Submission |
067852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R8246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86952080-86984518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86965181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 292
(T292I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038384]
[ENSMUST00000119339]
[ENSMUST00000120498]
[ENSMUST00000156363]
|
| AlphaFold |
E9Q5K9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038384
AA Change: T292I
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039133
Gene: ENSMUSG00000035851
AA Change: T292I
| 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 |
possibly damaging
Transcript: ENSMUST00000119339
AA Change: T292I
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113000
Gene: ENSMUSG00000035851
AA Change: T292I
| 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 |
possibly damaging
Transcript: ENSMUST00000120498
AA Change: T292I
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113951
Gene: ENSMUSG00000035851
AA Change: T292I
| 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 |
possibly damaging
Transcript: ENSMUST00000156363
AA Change: T304I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122491
Gene: ENSMUSG00000035851
AA Change: T304I
| 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 |
0.0980 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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 |
|---|
| Alpk3 |
C |
A |
7: 80,742,524 (GRCm39) |
D780E |
probably benign |
Het |
| Anln |
A |
C |
9: 22,262,251 (GRCm39) |
S947A |
probably benign |
Het |
| Borcs6 |
C |
T |
11: 68,951,377 (GRCm39) |
P252S |
probably benign |
Het |
| Ccdc42 |
C |
A |
11: 68,478,122 (GRCm39) |
Q28K |
probably benign |
Het |
| Cp |
A |
G |
3: 20,029,186 (GRCm39) |
I554M |
probably damaging |
Het |
| Dnm3 |
T |
G |
1: 162,135,486 (GRCm39) |
D429A |
probably damaging |
Het |
| Dok5 |
A |
G |
2: 170,642,813 (GRCm39) |
K37R |
probably benign |
Het |
| Dtwd2 |
A |
T |
18: 49,831,492 (GRCm39) |
Y268N |
probably benign |
Het |
| Eif3a |
T |
C |
19: 60,767,806 (GRCm39) |
E244G |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,496,966 (GRCm39) |
V810A |
probably benign |
Het |
| Fam149a |
T |
C |
8: 45,834,655 (GRCm39) |
E48G |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,838,428 (GRCm39) |
E2605D |
unknown |
Het |
| Fhip1b |
T |
C |
7: 105,038,867 (GRCm39) |
E124G |
probably damaging |
Het |
| Fyn |
T |
A |
10: 39,405,525 (GRCm39) |
W264R |
probably damaging |
Het |
| Gm10024 |
T |
A |
10: 77,547,369 (GRCm39) |
S27T |
unknown |
Het |
| Gpr157 |
C |
T |
4: 150,186,753 (GRCm39) |
L294F |
possibly damaging |
Het |
| Kif6 |
C |
T |
17: 50,065,542 (GRCm39) |
Q506* |
probably null |
Het |
| Klrh1 |
A |
G |
6: 129,752,339 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,451,242 (GRCm39) |
K707R |
possibly damaging |
Het |
| Mcub |
C |
A |
3: 129,708,814 (GRCm39) |
V328L |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,657,284 (GRCm39) |
P12S |
probably benign |
Het |
| Mrgprb3 |
T |
G |
7: 48,293,268 (GRCm39) |
L94F |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,392,640 (GRCm39) |
P3307Q |
probably damaging |
Het |
| Nol8 |
T |
G |
13: 49,808,724 (GRCm39) |
|
probably benign |
Het |
| Or11g2 |
A |
G |
14: 50,855,841 (GRCm39) |
Y54C |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,790,483 (GRCm39) |
I312V |
probably benign |
Het |
| Pax5 |
T |
C |
4: 44,570,027 (GRCm39) |
H286R |
probably benign |
Het |
| Rmdn2 |
T |
A |
17: 79,979,966 (GRCm39) |
C381* |
probably null |
Het |
| Rpusd4 |
A |
G |
9: 35,183,876 (GRCm39) |
I202V |
probably benign |
Het |
| Shank3 |
A |
T |
15: 89,417,549 (GRCm39) |
R49W |
possibly damaging |
Het |
| Smurf2 |
T |
C |
11: 106,721,870 (GRCm39) |
T542A |
probably benign |
Het |
| Sorcs2 |
G |
A |
5: 36,219,932 (GRCm39) |
R371C |
probably damaging |
Het |
| Sqstm1 |
T |
C |
11: 50,101,388 (GRCm39) |
H66R |
probably damaging |
Het |
| Stard8 |
C |
T |
X: 98,109,570 (GRCm39) |
S155L |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,091,889 (GRCm39) |
V1582D |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,427,156 (GRCm39) |
M331V |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,042 (GRCm39) |
S368G |
probably damaging |
Het |
| Tmem184c |
A |
T |
8: 78,336,814 (GRCm39) |
I14N |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,985,941 (GRCm39) |
*911W |
probably null |
Het |
| Unc13b |
T |
C |
4: 43,175,954 (GRCm39) |
F2261L |
unknown |
Het |
| Vps16 |
G |
C |
2: 130,280,793 (GRCm39) |
G241R |
probably damaging |
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 |
|
|
R0311:Ythdc1
|
UTSW |
5 |
86,983,564 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
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'- TGAACAGGGCAACAACACTG -3'
(R):5'- GGCATTCTACCTTGGAAATGTCC -3'
Sequencing Primer
(F):5'- CAGGGCAACAACACTGAGAATG -3'
(R):5'- GCCTGGAATACACTTTCATAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation