Mutagenetix > Incidental Mutation

Incidental Mutation 'R0311:Ythdc1'

25191

Institutional Source

Beutler Lab

Gene Symbol

Ythdc1

Ensembl Gene

ENSMUSG00000035851

Gene Name

YTH domain containing 1

Synonyms

A730098D12Rik

MMRRC Submission

038521-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R0311 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86804221-86836659 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86835705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 670 (D670N)

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: D670N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039133
Gene: ENSMUSG00000035851
AA Change: D670N

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: D644N

SMART Domains

Protein: ENSMUSP00000113000
Gene: ENSMUSG00000035851
AA Change: D644N

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: D662N

SMART Domains

Protein: ENSMUSP00000113951
Gene: ENSMUSG00000035851
AA Change: D662N

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: 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

Meta Mutation Damage Score

0.1807

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 91.6%

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
Abca15	A	C	7: 120,402,904	M1547L	probably damaging	Het
Abcb4	A	G	5: 8,934,243	K658E	probably benign	Het
Abr	A	G	11: 76,509,127	S15P	possibly damaging	Het
Adgrb2	G	C	4: 130,017,129	A1168P	probably damaging	Het
Adgre4	A	T	17: 55,802,010	E339V	probably benign	Het
Asprv1	T	C	6: 86,628,840	W223R	probably damaging	Het
Ccdc89	A	G	7: 90,426,693	E37G	probably damaging	Het
Cd48	C	A	1: 171,699,580	Y191*	probably null	Het
Chd4	T	C	6: 125,101,665	I257T	probably benign	Het
Clca4b	T	C	3: 144,932,496	M2V	probably benign	Het
Dnah11	A	T	12: 118,127,133	D1025E	probably benign	Het
Erich5	A	G	15: 34,472,939	*363W	probably null	Het
Etl4	A	G	2: 20,807,129	D1341G	probably damaging	Het
Fbxw11	A	G	11: 32,722,083	T184A	probably benign	Het
Fktn	A	G	4: 53,744,620	Q300R	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gdpd3	G	A	7: 126,767,189	R66Q	possibly damaging	Het
Hexb	A	G	13: 97,183,819		probably benign	Het
Kdm4b	A	G	17: 56,386,200	R346G	probably benign	Het
Mbtd1	T	A	11: 93,921,357		probably null	Het
Med23	T	A	10: 24,897,358	C653S	possibly damaging	Het
Nwd2	A	T	5: 63,804,998	I642L	probably damaging	Het
Olfr1444	A	G	19: 12,861,869	I31M	probably benign	Het
Olfr1448	T	A	19: 12,920,096	Y71F	possibly damaging	Het
Olfr912	T	C	9: 38,539,297	V134A	probably benign	Het
Pbld2	T	C	10: 63,054,507		probably null	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Plpp2	C	T	10: 79,527,580	R77K	probably damaging	Het
Pym1	G	T	10: 128,765,984	R168L	possibly damaging	Het
Rbm4	T	C	19: 4,787,556	Y300C	probably damaging	Het
Rnf207	A	G	4: 152,315,779	C175R	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Speg	T	C	1: 75,430,937	V3196A	probably damaging	Het
Syne1	T	A	10: 5,348,943	I1048L	possibly damaging	Het
Th	T	C	7: 142,896,041	E41G	probably damaging	Het
Tmx4	T	A	2: 134,598,526	*336L	probably null	Het
Tnfrsf18	T	C	4: 156,026,415	V10A	possibly damaging	Het
Tnxb	A	T	17: 34,716,984	I2670F	probably damaging	Het
Tpx2	T	C	2: 152,890,492	V562A	probably damaging	Het
Vmn2r73	A	G	7: 85,871,789	S324P	probably benign	Het
Vps18	T	C	2: 119,297,365	Y890H	probably benign	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
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
R8246:Ythdc1	UTSW	5	86817322	missense	possibly damaging	0.94
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'- CATGAAAGGGTGTGTTGCACAAAGG -3'
(R):5'- AAAAGAGTCAACCCAACTGTCAACTGT -3'

Sequencing Primer
(F):5'- GAAATTACAGGAATACATGGTGCTC -3'
(R):5'- TCCCctcggtctctgtcc -3'

Posted On

2013-04-16