Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Ythdf1'

505897

Institutional Source

Beutler Lab

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH domain family 1

Synonyms

MMRRC Submission

044367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180904377-180920949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180911100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 414 (T414A)

Ref Sequence

ENSEMBL: ENSMUSP00000037808 (fasta)

Gene Model

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

AlphaFold

P59326

Predicted Effect

probably damaging
Transcript: ENSMUST00000037299
AA Change: T414A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: T414A

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: T441A

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

SMART Domains

Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: T441A

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

Meta Mutation Damage Score

0.8428

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,150,714	G1195D	probably damaging	Het
Abhd12	T	C	2: 150,839,747	Y241C	probably damaging	Het
Ak9	T	C	10: 41,389,034	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,754,447	F49S	probably damaging	Het
Atp9b	T	C	18: 80,756,521	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,387,408		probably benign	Het
BC030867	A	G	11: 102,255,062	T55A	probably benign	Het
Ccnd3	T	A	17: 47,597,562	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255	Q55L	probably benign	Het
Commd10	A	G	18: 46,963,688	E54G	probably damaging	Het
D6Ertd527e	G	A	6: 87,111,212	G119D	unknown	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Disp2	A	T	2: 118,790,766	I660F	probably damaging	Het
Eef1a2	A	G	2: 181,151,060	F211L	possibly damaging	Het
Epb41	A	T	4: 131,989,873	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,890,465	I403F	probably benign	Het
Ercc5	T	A	1: 44,164,049	V282D	probably damaging	Het
Faim	A	T	9: 98,992,123	M1L	probably benign	Het
Fbxo24	A	G	5: 137,621,281	F111L	probably damaging	Het
Glrx	A	T	13: 75,840,110	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,217,424	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,339,498	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,131,759	V1367A	probably benign	Het
Ipo13	A	G	4: 117,912,154	V147A	possibly damaging	Het
Jchain	T	C	5: 88,526,175	T37A	probably benign	Het
Kif1b	A	G	4: 149,213,643	V1034A	probably benign	Het
Krt25	T	A	11: 99,321,163	N216I	probably damaging	Het
Lman1l	A	G	9: 57,615,624	V151A	probably benign	Het
Mfsd4b1	T	C	10: 40,003,110	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,841,089	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,181,799	I406N	probably benign	Het
Olfr1381	A	T	11: 49,551,884	I46F	probably damaging	Het
Olfr155	T	C	4: 43,854,363	L18P	possibly damaging	Het
Olfr191	G	A	16: 59,085,832	S217F	probably damaging	Het
Pak7	T	C	2: 136,174,269		probably benign	Het
Pcsk4	T	C	10: 80,325,592	R222G	probably benign	Het
Pik3cb	A	C	9: 99,094,598	F149V	probably benign	Het
Plscr4	G	A	9: 92,484,828	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,038,954	V34E	probably damaging	Het
Prpf8	T	G	11: 75,493,508	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,128,995	S342P	probably damaging	Het
Pum2	T	C	12: 8,744,755		probably null	Het
Ranbp3	T	G	17: 56,677,208		probably null	Het
Rassf7	A	G	7: 141,217,243	E123G	probably damaging	Het
Rcor1	G	T	12: 111,111,877	A469S	probably benign	Het
Rcor3	G	T	1: 192,100,896	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,682,107		probably null	Het
Rtf1	T	C	2: 119,675,177	V37A	unknown	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Setbp1	T	C	18: 78,858,002	T817A	probably benign	Het
Setd1a	A	G	7: 127,791,299	E506G	unknown	Het
Slc30a8	G	A	15: 52,335,149	R330Q	probably benign	Het
Snx22	C	A	9: 66,069,641	E14*	probably null	Het
Spata31d1a	A	G	13: 59,701,801	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,500,463	Q11K	unknown	Het
Trpm3	A	G	19: 22,910,054	N839S	probably benign	Het
Vps9d1	T	C	8: 123,248,208		probably null	Het
Vwa3b	T	C	1: 37,051,885		probably null	Het
Zfp709	TCGACG	TCG	8: 71,890,708		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
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
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'- CACTTGTCCTGAGACCAGAC -3'
(R):5'- TGCAGCATTTGGGCAGAGTG -3'

Sequencing Primer
(F):5'- TGTCCTGAGACCAGACCCCAG -3'
(R):5'- CAGTAACTCTGTTGGAAATGCCC -3'

Posted On

2018-02-28