Mutagenetix > Incidental Mutation

Incidental Mutation 'R2169:Ythdf1'

235650

Institutional Source

Beutler Lab

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH domain family 1

Synonyms

MMRRC Submission

040172-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180904377-180920949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180912114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 69 (S69T)

Ref Sequence

ENSEMBL: ENSMUSP00000116665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037299] [ENSMUST00000108876] [ENSMUST00000124666]

AlphaFold

P59326

Predicted Effect

probably damaging
Transcript: ENSMUST00000037299
AA Change: S76T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: S76T

Domain	Start	End	E-Value	Type
low complexity region	47	63	N/A	INTRINSIC
low complexity region	133	153	N/A	INTRINSIC
low complexity region	279	326	N/A	INTRINSIC
Pfam:YTH	388	526	4.2e-51	PFAM
low complexity region	540	557	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108876
AA Change: S103T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: S103T

Domain	Start	End	E-Value	Type
low complexity region	74	90	N/A	INTRINSIC
low complexity region	160	180	N/A	INTRINSIC
low complexity region	306	353	N/A	INTRINSIC
Pfam:YTH	416	551	1.9e-46	PFAM
low complexity region	567	584	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000124666
AA Change: S69T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116665
Gene: ENSMUSG00000038848
AA Change: S69T

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
low complexity region	126	146	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,485,813	T606A	probably benign	Het
Adtrp	T	A	13: 41,767,429	S221C	possibly damaging	Het
Ap1g2	T	A	14: 55,099,340		probably null	Het
Arhgef5	A	T	6: 43,274,420	M702L	probably benign	Het
Axdnd1	A	G	1: 156,418,309	V34A	probably damaging	Het
Ccdc154	T	A	17: 25,170,923	V509E	probably damaging	Het
Cttnbp2	C	T	6: 18,426,097	D761N	probably benign	Het
Ddx18	A	T	1: 121,558,409		probably null	Het
Fam241b	A	T	10: 62,109,966	I4N	probably damaging	Het
Fam69a	A	T	5: 107,909,459	L411*	probably null	Het
Gm5800	T	C	14: 51,713,678	K155E	possibly damaging	Het
Hemgn	T	A	4: 46,396,417	H273L	possibly damaging	Het
Hsp90aa1	A	G	12: 110,692,734	V543A	probably damaging	Het
Hspa1l	A	G	17: 34,977,323	K113E	probably benign	Het
Hspb2	A	G	9: 50,751,715	I38T	probably damaging	Het
Htt	A	T	5: 34,877,475	E2021D	probably benign	Het
Lrpprc	C	T	17: 84,770,077	R394Q	probably benign	Het
Lrrc8b	T	C	5: 105,481,887	Y700H	probably damaging	Het
Mefv	A	G	16: 3,710,888	V593A	probably benign	Het
Mrgprh	C	T	17: 12,876,969	T32M	probably benign	Het
Mrpl18	A	G	17: 12,913,768		probably null	Het
Muc1	A	G	3: 89,231,596	E504G	probably damaging	Het
Ndufa13	G	A	8: 69,894,519	A77V	probably damaging	Het
Olfr952	A	G	9: 39,426,358	F238L	possibly damaging	Het
Pgbd5	T	A	8: 124,384,624		probably null	Het
Pgm5	T	A	19: 24,834,815	I118F	probably damaging	Het
Phyhip	T	C	14: 70,467,132	F264L	possibly damaging	Het
Polr3e	C	T	7: 120,932,137	R176W	probably damaging	Het
Prkacb	C	T	3: 146,746,683		probably null	Het
Rab19	T	G	6: 39,384,041	V41G	possibly damaging	Het
Rapgef5	A	G	12: 117,715,395	Y234C	probably benign	Het
Slc26a5	T	C	5: 21,813,865	T659A	probably damaging	Het
Slc6a2	G	A	8: 92,994,101	V449I	probably benign	Het
Stab2	A	G	10: 86,887,862	S1490P	probably damaging	Het
Tln1	T	C	4: 43,548,005	T713A	probably damaging	Het
Tmc6	A	T	11: 117,769,106	L732Q	probably damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn1r203	A	T	13: 22,524,735	K229*	probably null	Het
Xylt1	G	A	7: 117,667,437	G893R	probably damaging	Het
Zfp114	C	T	7: 24,181,084	T285I	probably benign	Het
Zfp458	T	C	13: 67,257,049	E439G	probably damaging	Het
Zfp65	G	A	13: 67,710,380	T55I	probably damaging	Het
Zmym1	C	T	4: 127,054,203		probably null	Het

Other mutations in Ythdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Ythdf1	APN	2	180911693	missense	probably damaging	0.99
IGL03066:Ythdf1	APN	2	180911546	missense	probably damaging	1.00
Agitated	UTSW	2	180919133	critical splice donor site	probably null
R1258:Ythdf1	UTSW	2	180911310	missense	probably benign	0.05
R1541:Ythdf1	UTSW	2	180919143	missense	probably damaging	1.00
R1738:Ythdf1	UTSW	2	180911492	missense	probably benign	0.00
R1856:Ythdf1	UTSW	2	180910970	missense	probably damaging	1.00
R4606:Ythdf1	UTSW	2	180912182	missense	probably damaging	0.97
R5296:Ythdf1	UTSW	2	180912188	missense	probably damaging	0.98
R6250:Ythdf1	UTSW	2	180911100	missense	probably damaging	1.00
R6254:Ythdf1	UTSW	2	180911150	missense	probably damaging	1.00
R6702:Ythdf1	UTSW	2	180919133	critical splice donor site	probably null
R7102:Ythdf1	UTSW	2	180911522	missense	probably damaging	1.00
R7409:Ythdf1	UTSW	2	180911993	missense	probably damaging	1.00
R9069:Ythdf1	UTSW	2	180911064	missense	probably damaging	1.00
R9356:Ythdf1	UTSW	2	180912205	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TAGGCTGAGCTCTGAGTCTG -3'
(R):5'- ATATTAGGCTGGTTTCTGCACC -3'

Sequencing Primer
(F):5'- TGCCCCTGAGAACCACTTG -3'
(R):5'- ACCTGTGTATGAGGTGGTCAGC -3'

Posted On

2014-10-01