Mutagenetix > Incidental Mutation

Incidental Mutation 'R8246:Ythdc1'

640757

Institutional Source

Beutler Lab

Gene Symbol

Ythdc1

Ensembl Gene

ENSMUSG00000035851

Gene Name

YTH domain containing 1

Synonyms

A730098D12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R8246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86804221-86836659 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86817322 bp (GRCm38)

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
9330182L06Rik	T	C	5: 9,446,966	V810A	probably benign	Het
Alpk3	C	A	7: 81,092,776	D780E	probably benign	Het
Anln	A	C	9: 22,350,955	S947A	probably benign	Het
Borcs6	C	T	11: 69,060,551	P252S	probably benign	Het
Ccdc109b	C	A	3: 129,915,165	V328L	probably benign	Het
Ccdc42	C	A	11: 68,587,296	Q28K	probably benign	Het
Cp	A	G	3: 19,975,022	I554M	probably damaging	Het
Dnm3	T	G	1: 162,307,917	D429A	probably damaging	Het
Dok5	A	G	2: 170,800,893	K37R	probably benign	Het
Dtwd2	A	T	18: 49,698,425	Y268N	probably benign	Het
Eif3a	T	C	19: 60,779,368	E244G	probably damaging	Het
Fam149a	T	C	8: 45,381,618	E48G	probably benign	Het
Fam160a2	T	C	7: 105,389,660	E124G	probably damaging	Het
Fam186a	T	A	15: 99,940,547	E2605D	unknown	Het
Fyn	T	A	10: 39,529,529	W264R	probably damaging	Het
Gm10024	T	A	10: 77,711,535	S27T	unknown	Het
Gm156	A	G	6: 129,775,376		probably benign	Het
Gpr157	C	T	4: 150,102,296	L294F	possibly damaging	Het
Kif6	C	T	17: 49,758,514	Q506*	probably null	Het
Loxhd1	A	G	18: 77,363,546	K707R	possibly damaging	Het
Mdn1	C	T	4: 32,657,284	P12S	probably benign	Het
Mrgprb3	T	G	7: 48,643,520	L94F	probably benign	Het
Mycbp2	G	T	14: 103,155,204	P3307Q	probably damaging	Het
Nol8	T	G	13: 49,655,248		probably benign	Het
Olfr1308	T	C	2: 111,960,138	I312V	probably benign	Het
Olfr744	A	G	14: 50,618,384	Y54C	probably benign	Het
Pax5	T	C	4: 44,570,027	H286R	probably benign	Het
Rmdn2	T	A	17: 79,672,537	C381*	probably null	Het
Rpusd4	A	G	9: 35,272,580	I202V	probably benign	Het
Shank3	A	T	15: 89,533,346	R49W	possibly damaging	Het
Smurf2	T	C	11: 106,831,044	T542A	probably benign	Het
Sorcs2	G	A	5: 36,062,588	R371C	probably damaging	Het
Sqstm1	T	C	11: 50,210,561	H66R	probably damaging	Het
Stard8	C	T	X: 99,065,964	S155L	probably benign	Het
Svep1	A	T	4: 58,091,889	V1582D	probably damaging	Het
Tecrl	T	C	5: 83,279,309	M331V	probably damaging	Het
Tinf2	T	C	14: 55,679,585	S368G	probably damaging	Het
Tmem184c	A	T	8: 77,610,185	I14N	probably damaging	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Ulk4	T	C	9: 121,156,875	*911W	probably null	Het
Unc13b	T	C	4: 43,175,954	F2261L	unknown	Het
Vps16	G	C	2: 130,438,873	G241R	probably damaging	Het

Other mutations in Ythdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00676:Ythdc1	APN	5	86831811	missense	probably damaging	1.00
IGL02222:Ythdc1	APN	5	86828043	missense	possibly damaging	0.72
R0091:Ythdc1	UTSW	5	86820701	intron	probably benign
R0311:Ythdc1	UTSW	5	86835705	missense	probably damaging	0.97
R0349:Ythdc1	UTSW	5	86835720	missense	probably damaging	1.00
R0630:Ythdc1	UTSW	5	86809348	splice site	probably benign
R1662:Ythdc1	UTSW	5	86828122	critical splice donor site	probably null
R1907:Ythdc1	UTSW	5	86830630	missense	probably damaging	1.00
R2100:Ythdc1	UTSW	5	86816685	missense	possibly damaging	0.62
R2911:Ythdc1	UTSW	5	86816559	missense	possibly damaging	0.95
R3692:Ythdc1	UTSW	5	86822667	missense	probably damaging	0.98
R4042:Ythdc1	UTSW	5	86816524	missense	probably benign	0.03
R4398:Ythdc1	UTSW	5	86815654	missense	possibly damaging	0.95
R4398:Ythdc1	UTSW	5	86835820	utr 3 prime	probably benign
R4608:Ythdc1	UTSW	5	86822808	missense	probably damaging	0.97
R4806:Ythdc1	UTSW	5	86822845	missense	probably damaging	0.99
R5291:Ythdc1	UTSW	5	86835688	missense	probably damaging	1.00
R5761:Ythdc1	UTSW	5	86835951	utr 3 prime	probably benign
R6180:Ythdc1	UTSW	5	86828094	missense	possibly damaging	0.91
R6249:Ythdc1	UTSW	5	86831956	missense	possibly damaging	0.94
R6560:Ythdc1	UTSW	5	86816608	missense	probably benign	0.06
R7145:Ythdc1	UTSW	5	86816608	missense	probably benign	0.06
R8072:Ythdc1	UTSW	5	86821274	nonsense	probably null
R8225:Ythdc1	UTSW	5	86816937	missense	possibly damaging	0.91
R8225:Ythdc1	UTSW	5	86816938	missense	possibly damaging	0.73
R8229:Ythdc1	UTSW	5	86809308	intron	probably benign
R8284:Ythdc1	UTSW	5	86816466	missense	probably benign	0.18
R8385:Ythdc1	UTSW	5	86828102	missense	possibly damaging	0.77
R8546:Ythdc1	UTSW	5	86826748	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