Mutagenetix > Incidental Mutation

Incidental Mutation 'R1541:Ythdf1'

171709

Institutional Source

Beutler Lab

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH domain family 1

Synonyms

MMRRC Submission

039580-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1541 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

180904377-180920949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 180919143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 35 (S35A)

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: S42A

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

SMART Domains

Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: S42A

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: S69A

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

SMART Domains

Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: S69A

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: S35A

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

SMART Domains

Protein: ENSMUSP00000116665
Gene: ENSMUSG00000038848
AA Change: S35A

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	A	G	14: 103,049,333	D24G	probably damaging	Het
Angptl2	G	A	2: 33,246,165	R454H	probably benign	Het
Atat1	T	A	17: 35,904,331	N181I	probably damaging	Het
Atp6v0d2	A	C	4: 19,910,645	F82V	probably damaging	Het
BC100530	T	A	16: 36,367,501	M1L	probably damaging	Het
Casp3	A	G	8: 46,634,334	I105M	probably benign	Het
Ccdc33	T	A	9: 58,117,466	D159V	probably damaging	Het
Cd163	A	C	6: 124,327,961	D1099A	probably benign	Het
Cep128	A	T	12: 91,348,781	S110R	probably damaging	Het
Cfap43	A	T	19: 47,763,852		probably null	Het
Cfap58	T	C	19: 47,983,530	I633T	probably damaging	Het
Clvs1	A	G	4: 9,281,814	H86R	probably benign	Het
Comt	T	C	16: 18,411,815	K48R	probably benign	Het
Crip2	T	C	12: 113,144,966	V64A	possibly damaging	Het
Cwf19l2	T	A	9: 3,456,760	S698T	probably damaging	Het
Dis3l	T	C	9: 64,307,489	I933V	probably benign	Het
Dnah8	C	A	17: 30,747,247	N2470K	probably damaging	Het
Dstn	T	C	2: 143,938,488	V36A	possibly damaging	Het
Dtx1	T	A	5: 120,710,346		probably benign	Het
Dzip1	G	A	14: 118,879,478	S782L	probably damaging	Het
Ece1	T	A	4: 137,948,660		probably null	Het
Erich1	A	G	8: 14,030,688	I277T	probably damaging	Het
Fam26d	T	C	10: 34,041,663	H264R	probably benign	Het
Gbp4	T	A	5: 105,118,409	M589L	probably benign	Het
Gm15448	T	C	7: 3,816,989	D525G	probably damaging	Het
Gm9733	T	A	3: 15,320,684	T53S	possibly damaging	Het
Grip1	T	C	10: 120,000,543	I440T	probably damaging	Het
Helz	C	T	11: 107,670,048	S1311L	probably benign	Het
Herc2	A	T	7: 56,135,657	I1552F	probably damaging	Het
Kif13a	T	C	13: 46,809,213	T459A	probably benign	Het
Knop1	G	A	7: 118,855,786		probably benign	Het
Llgl2	C	A	11: 115,853,121	T758K	probably benign	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrrc71	T	C	3: 87,741,841	D340G	possibly damaging	Het
Luzp1	A	G	4: 136,543,325	D953G	probably damaging	Het
Mst1r	T	C	9: 107,917,363	V1247A	probably damaging	Het
Ncoa4	A	T	14: 32,176,888	K555M	probably damaging	Het
Ncoa6	A	T	2: 155,415,304	L773Q	probably benign	Het
Ndc1	C	T	4: 107,371,288	Q70*	probably null	Het
Nfe2l3	C	T	6: 51,457,605	L382F	probably damaging	Het
Nlrp4b	C	A	7: 10,725,052	T399N	possibly damaging	Het
Nsmce2	T	A	15: 59,601,385	D250E	probably damaging	Het
Nudt14	A	T	12: 112,934,928	L184Q	probably damaging	Het
Ogdhl	G	A	14: 32,340,667	R570H	possibly damaging	Het
Olfr477	T	C	7: 107,990,841	F159L	probably benign	Het
Papd5	T	C	8: 88,245,599	V222A	probably damaging	Het
Plag1	A	G	4: 3,904,085	S369P	probably benign	Het
Ranbp2	A	T	10: 58,483,094	T2476S	possibly damaging	Het
Rnmt	T	C	18: 68,307,782	L172P	probably damaging	Het
Sec24a	T	A	11: 51,743,796	H101L	probably benign	Het
Srm	A	G	4: 148,593,424	D173G	probably damaging	Het
Srp54b	A	G	12: 55,256,059	D380G	probably benign	Het
Svs2	C	T	2: 164,237,009	R326Q	possibly damaging	Het
Tfap2b	C	T	1: 19,234,070	T350M	probably damaging	Het
Tie1	A	T	4: 118,483,873	C304S	probably damaging	Het
Tsc2	G	T	17: 24,631,976	T36N	probably damaging	Het
Wdhd1	A	T	14: 47,268,192	Y274*	probably null	Het
Wdr37	T	C	13: 8,820,538	T373A	probably benign	Het
Xirp2	A	T	2: 67,512,290	N1625I	possibly damaging	Het
Zfp462	A	G	4: 55,008,928	N298S	possibly damaging	Het
Zfp541	T	A	7: 16,078,512	D363E	probably benign	Het
Zgpat	A	G	2: 181,378,865	D277G	probably benign	Het
Znfx1	A	T	2: 167,056,190	N271K	probably damaging	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
R1738:Ythdf1	UTSW	2	180911492	missense	probably benign	0.00
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'- CTGCTGCACTGTCCAGAACTTACC -3'
(R):5'- AACTGGCTCCAAGTCTGGTTGC -3'

Sequencing Primer
(F):5'- ATGCTAAAAGTCTGCCTGTACC -3'
(R):5'- AGAGTGTGCCCATTTTGAAAG -3'

Posted On

2014-04-13