Incidental Mutation 'R6560:Ythdc1'
| ID |
521996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ythdc1
|
| Ensembl Gene |
ENSMUSG00000035851 |
| Gene Name |
YTH domain containing 1 |
| Synonyms |
A730098D12Rik |
| MMRRC Submission |
044684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R6560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86952080-86984518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86964467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 92
(V92A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038384]
[ENSMUST00000119339]
[ENSMUST00000120498]
[ENSMUST00000156363]
|
| AlphaFold |
E9Q5K9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038384
AA Change: V92A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039133
Gene: ENSMUSG00000035851
AA Change: V92A
| 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 |
probably benign
Transcript: ENSMUST00000119339
AA Change: V92A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113000
Gene: ENSMUSG00000035851
AA Change: V92A
| 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 |
probably benign
Transcript: ENSMUST00000120498
AA Change: V92A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113951
Gene: ENSMUSG00000035851
AA Change: V92A
| 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: ENSMUST00000151489
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156363
AA Change: V104A
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000122491
Gene: ENSMUSG00000035851
AA Change: V104A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198859
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,843,230 (GRCm39) |
L1235Q |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,916,290 (GRCm39) |
T174A |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,255,130 (GRCm39) |
R733H |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Arsk |
A |
T |
13: 76,223,105 (GRCm39) |
I164N |
probably benign |
Het |
| Bbs5 |
T |
A |
2: 69,487,300 (GRCm39) |
N194K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,723,119 (GRCm39) |
T133A |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,367 (GRCm39) |
P1010S |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,339,790 (GRCm39) |
N778K |
probably benign |
Het |
| Cept1 |
T |
C |
3: 106,412,594 (GRCm39) |
I240V |
possibly damaging |
Het |
| Crip3 |
A |
G |
17: 46,741,962 (GRCm39) |
R150G |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,085,299 (GRCm39) |
T320A |
probably benign |
Het |
| Dio2 |
G |
C |
12: 90,696,607 (GRCm39) |
S127* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,801,161 (GRCm39) |
E99G |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,626,935 (GRCm39) |
S325G |
probably benign |
Het |
| Exosc4 |
A |
G |
15: 76,211,813 (GRCm39) |
I41V |
probably benign |
Het |
| Glb1l3 |
C |
T |
9: 26,739,720 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm3072 |
T |
A |
14: 41,345,510 (GRCm39) |
D89V |
unknown |
Het |
| Gosr2 |
T |
C |
11: 103,577,508 (GRCm39) |
H79R |
probably damaging |
Het |
| Has2 |
T |
A |
15: 56,531,660 (GRCm39) |
T352S |
probably damaging |
Het |
| Insig1 |
T |
A |
5: 28,276,531 (GRCm39) |
C32* |
probably null |
Het |
| Klf9 |
A |
G |
19: 23,119,314 (GRCm39) |
S66G |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,623,665 (GRCm39) |
I263T |
probably damaging |
Het |
| Myl2 |
G |
A |
5: 122,240,834 (GRCm39) |
G38R |
probably null |
Het |
| Negr1 |
A |
G |
3: 157,018,494 (GRCm39) |
T332A |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,787,884 (GRCm39) |
S1417P |
possibly damaging |
Het |
| Or52ab4 |
T |
C |
7: 102,987,945 (GRCm39) |
F228S |
probably benign |
Het |
| Or7e168 |
G |
A |
9: 19,720,412 (GRCm39) |
S266N |
probably benign |
Het |
| Pcgf3 |
C |
A |
5: 108,621,768 (GRCm39) |
H35Q |
probably damaging |
Het |
| Plppr5 |
A |
G |
3: 117,465,639 (GRCm39) |
I297V |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Prx |
A |
T |
7: 27,214,746 (GRCm39) |
Q85H |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,388,688 (GRCm39) |
M305R |
possibly damaging |
Het |
| Zfp619 |
G |
A |
7: 39,186,954 (GRCm39) |
E995K |
probably damaging |
Het |
| Zfp90 |
A |
G |
8: 107,142,379 (GRCm39) |
R4G |
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 |
|
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'- GTTCAGCAGTTGGGAAGCAG -3'
(R):5'- TGTAGGAGACTTGGCCCTTC -3'
Sequencing Primer
(F):5'- CAGCAGTTGGGAAGCAGTTTTG -3'
(R):5'- AGGAGACTTGGCCCTTCTTTCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation