Mutagenetix > Incidental Mutation

Incidental Mutation 'R1738:Ythdf1'

199838

Institutional Source

Beutler Lab

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH domain family 1

Synonyms

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

180904377-180920949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 180911492 bp (GRCm38)

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: 4,864,611	Y202C	probably damaging	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adgrl3	T	G	5: 81,387,979	M155R	probably damaging	Het
Ak9	A	T	10: 41,335,921	Q218L	possibly damaging	Het
Akap13	G	A	7: 75,677,194	G647D	probably damaging	Het
Angptl3	A	G	4: 99,033,262	T206A	probably benign	Het
Arhgap19	A	G	19: 41,784,381	I291T	probably benign	Het
BC049715	C	T	6: 136,840,308	P182L	probably damaging	Het
BC067074	T	G	13: 113,367,500	L179R	possibly damaging	Het
Bsn	T	C	9: 108,106,934	D3307G	unknown	Het
Ces2h	T	A	8: 105,019,065		probably null	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Col4a2	T	A	8: 11,446,238	F1620I	probably damaging	Het
Col6a3	T	C	1: 90,816,361	E88G	probably damaging	Het
Coro6	A	G	11: 77,469,425	D407G	probably benign	Het
Cpe	A	T	8: 64,611,441	F241L	probably damaging	Het
Csde1	A	G	3: 103,029,177		probably benign	Het
Dgki	A	G	6: 37,057,432	I361T	possibly damaging	Het
Dnah3	A	G	7: 120,035,359	V1298A	probably damaging	Het
Duox2	T	A	2: 122,293,414	I430F	probably damaging	Het
Gak	T	C	5: 108,616,976	Y153C	probably damaging	Het
Gal3st2	T	A	1: 93,874,596		probably null	Het
Gbp11	T	C	5: 105,326,644	N389D	probably benign	Het
Grm1	A	G	10: 10,936,419	V287A	probably damaging	Het
Hsp90ab1	T	C	17: 45,571,806	K36E	probably damaging	Het
Il24	T	A	1: 130,887,362		probably null	Het
Ino80d	T	C	1: 63,093,465	D13G	probably damaging	Het
Ipp	G	A	4: 116,530,421	V399I	probably benign	Het
Kank3	A	T	17: 33,817,194	D12V	probably damaging	Het
Lcn12	A	T	2: 25,493,251	S74R	probably damaging	Het
Mast3	T	C	8: 70,784,556	T637A	probably benign	Het
Nes	C	A	3: 87,976,421	Y662*	probably null	Het
Nudt13	A	T	14: 20,309,694	H163L	probably damaging	Het
Olfr1046	A	T	2: 86,217,716		probably null	Het
Olfr1178	G	A	2: 88,391,327	V27I	probably benign	Het
Olfr1239	T	C	2: 89,418,018	T132A	probably benign	Het
Olfr346	T	C	2: 36,688,785	V261A	probably benign	Het
Pde6b	C	T	5: 108,430,559	R788*	probably null	Het
Pex13	A	G	11: 23,649,458	L351P	probably benign	Het
Phc1	A	G	6: 122,318,566	M942T	probably damaging	Het
Plch1	A	T	3: 63,719,238	D571E	probably benign	Het
Plec	C	T	15: 76,186,218	V931M	probably damaging	Het
Plekhh2	A	G	17: 84,566,697	N470S	possibly damaging	Het
Primpol	A	G	8: 46,607,838	S82P	probably damaging	Het
Prkg1	T	C	19: 30,786,922	D256G	possibly damaging	Het
Prune2	A	G	19: 17,125,010	E2511G	probably benign	Het
Rassf8	T	C	6: 145,815,308	I120T	probably benign	Het
Rfx4	G	A	10: 84,880,975		probably null	Het
Rtp2	A	T	16: 23,927,673	N69K	probably benign	Het
Sh3d19	A	T	3: 86,120,606	I597F	probably damaging	Het
Sorl1	T	A	9: 42,089,965	E246D	probably benign	Het
Spert	C	T	14: 75,593,057	M1I	probably null	Het
Tet2	T	A	3: 133,481,387	I1094L	probably benign	Het
Tlr4	A	T	4: 66,841,076	H702L	probably benign	Het
Tnfrsf14	T	C	4: 154,925,331	D47G	probably damaging	Het
Ttn	T	C	2: 76,946,813	Y1415C	probably damaging	Het
Vmn2r17	T	A	5: 109,428,511	F416Y	probably benign	Het
Vmn2r54	A	G	7: 12,635,888	S83P	probably benign	Het
Vtn	A	G	11: 78,499,596	D53G	possibly damaging	Het
Vwde	A	T	6: 13,190,724	V456D	probably damaging	Het
Wdr91	G	A	6: 34,884,308	P653L	probably damaging	Het
Zfp975	C	A	7: 42,662,949	W80L	probably benign	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
R1856:Ythdf1	UTSW	2	180910970	missense	probably damaging	1.00
R2169:Ythdf1	UTSW	2	180912114	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'- CTTTCAGTTTCTCCAGGACAGGGTG -3'
(R):5'- CTTTCTGGCAATGGTGGGACAAATG -3'

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

Posted On

2014-05-23