Mutagenetix > Incidental Mutation

Incidental Mutation 'R1738:Ythdf1'

199838

Institutional Source

Beutler Lab

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH N6-methyladenosine RNA binding protein 1

Synonyms

2210410K23Rik

MMRRC Submission

039770-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1738 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

180546170-180562729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180553285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 283 (A283V)

Ref Sequence

ENSEMBL: ENSMUSP00000037808 (fasta)

Gene Model

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

AlphaFold

P59326

Predicted Effect

probably benign
Transcript: ENSMUST00000037299
AA Change: A283V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: A283V

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 benign
Transcript: ENSMUST00000108876
AA Change: A310V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: A310V

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 benign
Transcript: ENSMUST00000124666

SMART Domains

Protein: ENSMUSP00000116665
Gene: ENSMUSG00000038848

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: 97.5%
3x: 96.8%
10x: 94.7%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,475 (GRCm39)	Y202C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgrl3	T	G	5: 81,535,826 (GRCm39)	M155R	probably damaging	Het
Ak9	A	T	10: 41,211,917 (GRCm39)	Q218L	possibly damaging	Het
Akap13	G	A	7: 75,326,942 (GRCm39)	G647D	probably damaging	Het
Angptl3	A	G	4: 98,921,499 (GRCm39)	T206A	probably benign	Het
Arhgap19	A	G	19: 41,772,820 (GRCm39)	I291T	probably benign	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Bsn	T	C	9: 107,984,133 (GRCm39)	D3307G	unknown	Het
Cby2	C	T	14: 75,830,497 (GRCm39)	M1I	probably null	Het
Ces2h	T	A	8: 105,745,697 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Col6a3	T	C	1: 90,744,083 (GRCm39)	E88G	probably damaging	Het
Coro6	A	G	11: 77,360,251 (GRCm39)	D407G	probably benign	Het
Cpe	A	T	8: 65,064,475 (GRCm39)	F241L	probably damaging	Het
Csde1	A	G	3: 102,936,493 (GRCm39)		probably benign	Het
Cspg4b	T	G	13: 113,504,034 (GRCm39)	L179R	possibly damaging	Het
Dgki	A	G	6: 37,034,367 (GRCm39)	I361T	possibly damaging	Het
Dnah3	A	G	7: 119,634,582 (GRCm39)	V1298A	probably damaging	Het
Duox2	T	A	2: 122,123,895 (GRCm39)	I430F	probably damaging	Het
Gak	T	C	5: 108,764,842 (GRCm39)	Y153C	probably damaging	Het
Gal3st2	T	A	1: 93,802,318 (GRCm39)		probably null	Het
Gbp11	T	C	5: 105,474,510 (GRCm39)	N389D	probably benign	Het
Grm1	A	G	10: 10,812,163 (GRCm39)	V287A	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,732 (GRCm39)	K36E	probably damaging	Het
Il24	T	A	1: 130,815,099 (GRCm39)		probably null	Het
Ino80d	T	C	1: 63,132,624 (GRCm39)	D13G	probably damaging	Het
Ipp	G	A	4: 116,387,618 (GRCm39)	V399I	probably benign	Het
Kank3	A	T	17: 34,036,168 (GRCm39)	D12V	probably damaging	Het
Lcn12	A	T	2: 25,383,263 (GRCm39)	S74R	probably damaging	Het
Mast3	T	C	8: 71,237,200 (GRCm39)	T637A	probably benign	Het
Nes	C	A	3: 87,883,728 (GRCm39)	Y662*	probably null	Het
Nudt13	A	T	14: 20,359,762 (GRCm39)	H163L	probably damaging	Het
Or1j17	T	C	2: 36,578,797 (GRCm39)	V261A	probably benign	Het
Or4a2	T	C	2: 89,248,362 (GRCm39)	T132A	probably benign	Het
Or4p7	G	A	2: 88,221,671 (GRCm39)	V27I	probably benign	Het
Or8k1	A	T	2: 86,048,060 (GRCm39)		probably null	Het
Pde6b	C	T	5: 108,578,425 (GRCm39)	R788*	probably null	Het
Pex13	A	G	11: 23,599,458 (GRCm39)	L351P	probably benign	Het
Phc1	A	G	6: 122,295,525 (GRCm39)	M942T	probably damaging	Het
Plch1	A	T	3: 63,626,659 (GRCm39)	D571E	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhh2	A	G	17: 84,874,125 (GRCm39)	N470S	possibly damaging	Het
Primpol	A	G	8: 47,060,873 (GRCm39)	S82P	probably damaging	Het
Prkg1	T	C	19: 30,764,322 (GRCm39)	D256G	possibly damaging	Het
Prune2	A	G	19: 17,102,374 (GRCm39)	E2511G	probably benign	Het
Rassf8	T	C	6: 145,761,034 (GRCm39)	I120T	probably benign	Het
Rfx4	G	A	10: 84,716,839 (GRCm39)		probably null	Het
Rtp2	A	T	16: 23,746,423 (GRCm39)	N69K	probably benign	Het
Sh3d19	A	T	3: 86,027,913 (GRCm39)	I597F	probably damaging	Het
Sorl1	T	A	9: 42,001,261 (GRCm39)	E246D	probably benign	Het
Tet2	T	A	3: 133,187,148 (GRCm39)	I1094L	probably benign	Het
Tlr4	A	T	4: 66,759,313 (GRCm39)	H702L	probably benign	Het
Tnfrsf14	T	C	4: 155,009,788 (GRCm39)	D47G	probably damaging	Het
Ttn	T	C	2: 76,777,157 (GRCm39)	Y1415C	probably damaging	Het
Vmn2r17	T	A	5: 109,576,377 (GRCm39)	F416Y	probably benign	Het
Vmn2r54	A	G	7: 12,369,815 (GRCm39)	S83P	probably benign	Het
Vtn	A	G	11: 78,390,422 (GRCm39)	D53G	possibly damaging	Het
Vwde	A	T	6: 13,190,723 (GRCm39)	V456D	probably damaging	Het
Wdr91	G	A	6: 34,861,243 (GRCm39)	P653L	probably damaging	Het
Zfp975	C	A	7: 42,312,373 (GRCm39)	W80L	probably benign	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
R1856:Ythdf1	UTSW	2	180,552,763 (GRCm39)	missense	probably damaging	1.00
R2169:Ythdf1	UTSW	2	180,553,907 (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'- CTTTCAGTTTCTCCAGGACAGGGTG -3'
(R):5'- CTTTCTGGCAATGGTGGGACAAATG -3'

Sequencing Primer
(F):5'- GGGCATTTCCAACAGAGTTACTG -3'
(R):5'- GGACAAATGTAAACATGCCAGTTTC -3'

Posted On

2014-05-23