Mutagenetix > Incidental Mutation

Incidental Mutation 'R1258:Ythdf1'

151514

Institutional Source

Beutler Lab

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH domain family 1

Synonyms

MMRRC Submission

039325-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1258 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180904377-180920949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 180911310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 371 (A371S)

Ref Sequence

ENSEMBL: ENSMUSP00000104504 (fasta)

Gene Model

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

AlphaFold

P59326

Predicted Effect

probably benign
Transcript: ENSMUST00000037299
AA Change: A344S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: A344S

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: A371S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: A371S

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,937,447	E112G	probably damaging	Het
Ccar2	T	C	14: 70,152,673	N17D	probably benign	Het
Dnajc9	G	A	14: 20,388,697		probably null	Het
Igsf9	G	A	1: 172,492,155	R339H	probably benign	Het
Inpp5a	G	T	7: 139,525,744	G212C	probably damaging	Het
Itsn2	A	G	12: 4,673,464	E1133G	probably damaging	Het
Ltbp1	A	G	17: 75,225,285	Q118R	possibly damaging	Het
Pcdhb17	A	T	18: 37,485,534	I126L	probably damaging	Het
Ppil2	A	T	16: 17,106,053	L44H	probably damaging	Het
Qtrt2	A	G	16: 43,869,083	V184A	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Sall3	G	A	18: 80,974,065	A216V	probably damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
St8sia6	T	C	2: 13,656,884	M379V	probably benign	Het
Ubr4	T	A	4: 139,426,914	L2144H	probably damaging	Het
Zdhhc16	G	A	19: 41,938,044	V89M	possibly damaging	Het
Zfp37	A	T	4: 62,191,817	Y375N	probably damaging	Het
Zmat3	A	T	3: 32,343,671	N147K	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
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

Predicted Primers

PCR Primer
(F):5'- TTGATGATGAACACCCGCCCAC -3'
(R):5'- CCTGAAGATTGGGGATGTTACCACC -3'

Sequencing Primer
(F):5'- TAGGGTTATAGCTGTGGGCA -3'
(R):5'- AACTTCATGGGCAGCCATTG -3'

Posted On

2014-01-29