Mutagenetix > Incidental Mutation

Incidental Mutation 'R2169:Ythdf1'

235650

Institutional Source

Beutler Lab

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH N6-methyladenosine RNA binding protein 1

Synonyms

2210410K23Rik

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

180546170-180562729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180553907 bp (GRCm39)

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: 119,622,349 (GRCm39)	T606A	probably benign	Het
Adtrp	T	A	13: 41,920,905 (GRCm39)	S221C	possibly damaging	Het
Ap1g2	T	A	14: 55,336,797 (GRCm39)		probably null	Het
Arhgef5	A	T	6: 43,251,354 (GRCm39)	M702L	probably benign	Het
Axdnd1	A	G	1: 156,245,879 (GRCm39)	V34A	probably damaging	Het
Ccdc154	T	A	17: 25,389,897 (GRCm39)	V509E	probably damaging	Het
Cttnbp2	C	T	6: 18,426,096 (GRCm39)	D761N	probably benign	Het
Ddx18	A	T	1: 121,486,138 (GRCm39)		probably null	Het
Dipk1a	A	T	5: 108,057,325 (GRCm39)	L411*	probably null	Het
Fam241b	A	T	10: 61,945,745 (GRCm39)	I4N	probably damaging	Het
Gm5800	T	C	14: 51,951,135 (GRCm39)	K155E	possibly damaging	Het
Hemgn	T	A	4: 46,396,417 (GRCm39)	H273L	possibly damaging	Het
Hsp90aa1	A	G	12: 110,659,168 (GRCm39)	V543A	probably damaging	Het
Hspa1l	A	G	17: 35,196,299 (GRCm39)	K113E	probably benign	Het
Hspb2	A	G	9: 50,663,015 (GRCm39)	I38T	probably damaging	Het
Htt	A	T	5: 35,034,819 (GRCm39)	E2021D	probably benign	Het
Lrpprc	C	T	17: 85,077,505 (GRCm39)	R394Q	probably benign	Het
Lrrc8b	T	C	5: 105,629,753 (GRCm39)	Y700H	probably damaging	Het
Mefv	A	G	16: 3,528,752 (GRCm39)	V593A	probably benign	Het
Mrgprh	C	T	17: 13,095,856 (GRCm39)	T32M	probably benign	Het
Mrpl18	A	G	17: 13,132,655 (GRCm39)		probably null	Het
Muc1	A	G	3: 89,138,903 (GRCm39)	E504G	probably damaging	Het
Ndufa13	G	A	8: 70,347,169 (GRCm39)	A77V	probably damaging	Het
Or8g33	A	G	9: 39,337,654 (GRCm39)	F238L	possibly damaging	Het
Pgbd5	T	A	8: 125,111,363 (GRCm39)		probably null	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phyhip	T	C	14: 70,704,572 (GRCm39)	F264L	possibly damaging	Het
Polr3e	C	T	7: 120,531,360 (GRCm39)	R176W	probably damaging	Het
Prkacb	C	T	3: 146,452,438 (GRCm39)		probably null	Het
Rab19	T	G	6: 39,360,975 (GRCm39)	V41G	possibly damaging	Het
Rapgef5	A	G	12: 117,679,130 (GRCm39)	Y234C	probably benign	Het
Slc26a5	T	C	5: 22,018,863 (GRCm39)	T659A	probably damaging	Het
Slc6a2	G	A	8: 93,720,729 (GRCm39)	V449I	probably benign	Het
Stab2	A	G	10: 86,723,726 (GRCm39)	S1490P	probably damaging	Het
Tln1	T	C	4: 43,548,005 (GRCm39)	T713A	probably damaging	Het
Tmc6	A	T	11: 117,659,932 (GRCm39)	L732Q	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn1r203	A	T	13: 22,708,905 (GRCm39)	K229*	probably null	Het
Xylt1	G	A	7: 117,266,660 (GRCm39)	G893R	probably damaging	Het
Zfp114	C	T	7: 23,880,509 (GRCm39)	T285I	probably benign	Het
Zfp458	T	C	13: 67,405,113 (GRCm39)	E439G	probably damaging	Het
Zfp65	G	A	13: 67,858,499 (GRCm39)	T55I	probably damaging	Het
Zmym1	C	T	4: 126,947,996 (GRCm39)		probably null	Het

Other mutations in Ythdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Ythdf1	APN	2	180,553,486 (GRCm39)	missense	probably damaging	0.99
IGL03066:Ythdf1	APN	2	180,553,339 (GRCm39)	missense	probably damaging	1.00
Agitated	UTSW	2	180,560,926 (GRCm39)	critical splice donor site	probably null
R1258:Ythdf1	UTSW	2	180,553,103 (GRCm39)	missense	probably benign	0.05
R1541:Ythdf1	UTSW	2	180,560,936 (GRCm39)	missense	probably damaging	1.00
R1738:Ythdf1	UTSW	2	180,553,285 (GRCm39)	missense	probably benign	0.00
R1856:Ythdf1	UTSW	2	180,552,763 (GRCm39)	missense	probably damaging	1.00
R4606:Ythdf1	UTSW	2	180,553,975 (GRCm39)	missense	probably damaging	0.97
R5296:Ythdf1	UTSW	2	180,553,981 (GRCm39)	missense	probably damaging	0.98
R6250:Ythdf1	UTSW	2	180,552,893 (GRCm39)	missense	probably damaging	1.00
R6254:Ythdf1	UTSW	2	180,552,943 (GRCm39)	missense	probably damaging	1.00
R6702:Ythdf1	UTSW	2	180,560,926 (GRCm39)	critical splice donor site	probably null
R7102:Ythdf1	UTSW	2	180,553,315 (GRCm39)	missense	probably damaging	1.00
R7409:Ythdf1	UTSW	2	180,553,786 (GRCm39)	missense	probably damaging	1.00
R9069:Ythdf1	UTSW	2	180,552,857 (GRCm39)	missense	probably damaging	1.00
R9356:Ythdf1	UTSW	2	180,553,998 (GRCm39)	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