Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00676:Ythdc1'

14897

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) question?

Stock #

IGL00676

Quality Score

Status

Chromosome

Chromosomal Location

86952080-86984518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86979670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 588 (V588D)

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: V588D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039133
Gene: ENSMUSG00000035851
AA Change: V588D

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: V562D

SMART Domains

Protein: ENSMUSP00000113000
Gene: ENSMUSG00000035851
AA Change: V562D

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: V580D

SMART Domains

Protein: ENSMUSP00000113951
Gene: ENSMUSG00000035851
AA Change: V580D

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bub1b	A	G	2: 118,460,619 (GRCm39)	H650R	probably benign	Het
Gpcpd1	G	A	2: 132,395,931 (GRCm39)	S140F	probably damaging	Het
Isl1	T	C	13: 116,439,589 (GRCm39)	D253G	probably benign	Het
Mt4	A	G	8: 94,863,904 (GRCm39)		probably null	Het
Naip2	T	C	13: 100,289,140 (GRCm39)	N1197D	probably damaging	Het
Nfu1	C	A	6: 86,992,581 (GRCm39)	P65Q	probably damaging	Het
Nup133	T	G	8: 124,633,037 (GRCm39)		probably benign	Het
Slc4a10	G	T	2: 62,120,345 (GRCm39)	C824F	probably damaging	Het
Snapc1	A	T	12: 74,018,687 (GRCm39)	D39V	probably damaging	Het
Tnfsf14	T	C	17: 57,499,562 (GRCm39)	T97A	possibly damaging	Het
Zfp292	A	C	4: 34,807,827 (GRCm39)	I1739S	probably damaging	Het
Zfp882	A	G	8: 72,667,671 (GRCm39)	E166G	probably benign	Het

Other mutations in Ythdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06