Incidental Mutation 'IGL02222:Ythdc1'
| ID |
285192 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ythdc1
|
| Ensembl Gene |
ENSMUSG00000035851 |
| Gene Name |
YTH domain containing 1 |
| Synonyms |
A730098D12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL02222
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86952080-86984518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86975902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 503
(R503H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038384]
[ENSMUST00000119339]
[ENSMUST00000120498]
[ENSMUST00000156363]
|
| AlphaFold |
E9Q5K9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038384
AA Change: R509H
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000039133
Gene: ENSMUSG00000035851
AA Change: R509H
| 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: R491H
|
| SMART Domains |
Protein: ENSMUSP00000113000
Gene: ENSMUSG00000035851
AA Change: R491H
| 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: R509H
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113951
Gene: ENSMUSG00000035851
AA Change: R509H
| 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: ENSMUST00000148142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151489
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156363
AA Change: R503H
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122491
Gene: ENSMUSG00000035851
AA Change: R503H
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,322,045 (GRCm39) |
R1682W |
probably benign |
Het |
| Angptl6 |
A |
T |
9: 20,785,203 (GRCm39) |
M450K |
probably damaging |
Het |
| Armc12 |
C |
A |
17: 28,757,694 (GRCm39) |
N275K |
probably damaging |
Het |
| Cd27 |
T |
C |
6: 125,211,495 (GRCm39) |
H144R |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,641 (GRCm39) |
K1880E |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,414,094 (GRCm39) |
I907N |
probably damaging |
Het |
| Dpy19l4 |
A |
C |
4: 11,281,116 (GRCm39) |
F443C |
possibly damaging |
Het |
| Eif3i |
C |
T |
4: 129,485,881 (GRCm39) |
D315N |
possibly damaging |
Het |
| Fam217a |
A |
G |
13: 35,095,102 (GRCm39) |
L128P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,078 (GRCm39) |
L62F |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,423,454 (GRCm39) |
I1047F |
probably damaging |
Het |
| G2e3 |
A |
G |
12: 51,410,016 (GRCm39) |
H267R |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,338,585 (GRCm39) |
|
probably null |
Het |
| Gm10650 |
T |
C |
3: 127,833,789 (GRCm39) |
|
noncoding transcript |
Het |
| Grip1 |
C |
T |
10: 119,835,714 (GRCm39) |
T470I |
probably damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,682,152 (GRCm39) |
D466A |
probably benign |
Het |
| Lrrc63 |
T |
C |
14: 75,323,580 (GRCm39) |
Y548C |
probably damaging |
Het |
| Naaa |
T |
C |
5: 92,407,409 (GRCm39) |
|
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,975,947 (GRCm39) |
E55D |
possibly damaging |
Het |
| Pnpt1 |
A |
T |
11: 29,109,327 (GRCm39) |
D691V |
possibly damaging |
Het |
| Pnpt1 |
G |
A |
11: 29,080,842 (GRCm39) |
A29T |
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,622,416 (GRCm39) |
M313T |
possibly damaging |
Het |
| Psg25 |
T |
C |
7: 18,263,652 (GRCm39) |
N57S |
probably damaging |
Het |
| Selenbp2 |
T |
A |
3: 94,607,269 (GRCm39) |
V168E |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,999,617 (GRCm39) |
E2337K |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,087,755 (GRCm39) |
T1269A |
probably benign |
Het |
| Tent5b |
T |
C |
4: 133,213,864 (GRCm39) |
V245A |
probably damaging |
Het |
| Tnfrsf13c |
C |
A |
15: 82,107,364 (GRCm39) |
V144L |
probably damaging |
Het |
| Uspl1 |
G |
T |
5: 149,130,854 (GRCm39) |
V132L |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,449 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,659,539 (GRCm39) |
T1663S |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation