Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01787:Ythdf1'

155094

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 #

IGL01787

Quality Score

Status

Chromosome

Chromosomal Location

180904377-180920949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180911693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 216 (L216P)

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: L216P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: L216P

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: L243P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: L243P

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,753,322	S1772P	probably benign	Het
Epsti1	T	C	14: 77,972,612		probably null	Het
Gm4758	T	A	16: 36,311,229	Y34N	probably damaging	Het
Mtrr	A	T	13: 68,571,147	L325Q	probably damaging	Het
Neb	T	C	2: 52,296,355	K902E	possibly damaging	Het
Nfkbie	T	C	17: 45,556,263	L108P	probably damaging	Het
Olfr1263	A	T	2: 90,015,311	Y127F	probably damaging	Het
Olfr136	T	A	17: 38,335,579	C141S	probably damaging	Het
Pcdh15	A	G	10: 74,450,283	D712G	probably benign	Het
Polr3k	T	C	2: 181,864,458		probably benign	Het
Shkbp1	A	C	7: 27,342,450	F660V	possibly damaging	Het
Smchd1	T	C	17: 71,391,418	D1121G	probably damaging	Het
Srgap3	A	T	6: 112,723,022	D998E	probably benign	Het
Stab1	T	C	14: 31,139,808	D14G	probably damaging	Het
Tap1	T	C	17: 34,196,604	S641P	probably benign	Het
Tgm3	C	T	2: 130,047,740	S618F	possibly damaging	Het
Tgm6	T	C	2: 130,151,434		probably benign	Het
Tmco5	A	T	2: 116,887,300	E194D	probably damaging	Het
Treml4	T	A	17: 48,264,704	V45E	probably damaging	Het
Uggt2	A	T	14: 119,081,734	M292K	probably damaging	Het
Usp5	A	T	6: 124,824,226	D179E	possibly damaging	Het
Zfp948	C	T	17: 21,587,071	A175V	probably benign	Het

Other mutations in Ythdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-02-04