Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03066:Ythdf1'

409706

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH domain family 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03066

Quality Score

Status

Chromosome

Chromosomal Location

180904377-180920949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180911546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 292 (I292N)

Ref Sequence

ENSEMBL: ENSMUSP00000104504 (fasta)

Gene Model

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

AlphaFold

P59326

Predicted Effect

probably damaging
Transcript: ENSMUST00000037299
AA Change: I265N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: I265N

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: I292N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: I292N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brd4	A	C	17: 32,199,088		probably benign	Het
Cd209d	C	A	8: 3,878,437		probably null	Het
Cela2a	T	A	4: 141,821,454	I124F	probably damaging	Het
Cnot2	A	T	10: 116,499,357	N245K	probably benign	Het
Cpt2	A	G	4: 107,907,986	F148L	probably benign	Het
Ctsj	A	C	13: 61,004,488	H21Q	possibly damaging	Het
Cul4a	A	G	8: 13,133,776	N388S	probably benign	Het
Dnah12	A	G	14: 26,697,398	D147G	probably benign	Het
Dnhd1	A	G	7: 105,719,882	T4287A	probably damaging	Het
Dock10	C	A	1: 80,585,041	C534F	probably benign	Het
Efcab14	A	G	4: 115,738,804	E49G	probably benign	Het
Fancm	G	T	12: 65,125,114	E86*	probably null	Het
Galnt17	A	T	5: 130,900,648	S440R	probably benign	Het
Hectd4	T	A	5: 121,365,053	Y4362N	possibly damaging	Het
Lctl	T	G	9: 64,117,735	M1R	probably null	Het
Llgl1	A	G	11: 60,706,034	T154A	possibly damaging	Het
Mink1	G	T	11: 70,608,889	V750F	probably benign	Het
Mroh7	A	G	4: 106,692,398	V950A	possibly damaging	Het
Myg1	G	A	15: 102,334,366		probably benign	Het
Olfr1265	A	T	2: 90,037,434	I172F	probably damaging	Het
Olfr1415	T	A	1: 92,491,583	R57S	probably damaging	Het
Olfr77	A	G	9: 19,920,371	H54R	probably benign	Het
Pask	A	T	1: 93,330,866	S253R	probably benign	Het
Pkd1	C	A	17: 24,586,234	H3253Q	probably damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Rapgef4	A	G	2: 72,141,179		probably benign	Het
Rnf169	G	T	7: 99,925,553	R612S	possibly damaging	Het
Sclt1	A	T	3: 41,717,843	D104E	probably benign	Het
Shh	G	T	5: 28,461,371	D172E	probably damaging	Het
Sil1	G	T	18: 35,269,206		probably benign	Het
Slc19a3	A	G	1: 83,014,836	I388T	probably damaging	Het
Spink5	A	G	18: 44,016,390	Y946C	probably damaging	Het
Sulf1	A	T	1: 12,807,944	I219F	probably damaging	Het
Tcf3	T	C	10: 80,413,045	D529G	probably damaging	Het
Tmem2	G	A	19: 21,823,843	D775N	possibly damaging	Het
Txnip	G	A	3: 96,559,618	E203K	probably damaging	Het
Ubc	G	T	5: 125,388,263		probably benign	Het
Ubxn4	A	T	1: 128,260,854		probably null	Het
Usp16	T	C	16: 87,471,833	V284A	probably damaging	Het
Vmn2r6	T	A	3: 64,565,153	N49I	probably damaging	Het
Zfp128	A	G	7: 12,890,117	I137M	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
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
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

Posted On

2016-08-02