Mutagenetix > Incidental Mutation

Incidental Mutation 'R9069:Ythdf1'

689411

Institutional Source

Beutler Lab

Gene Symbol

Ythdf1

Ensembl Gene

ENSMUSG00000038848

Gene Name

YTH domain family 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9069 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180904377-180920949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 180911064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 453 (R453S)

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: R426S

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

SMART Domains

Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: R426S

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: R453S

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

SMART Domains

Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: R453S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,507,597	C103S	probably damaging	Het
Adamts20	T	C	15: 94,338,468	S841G	probably benign	Het
Add3	T	A	19: 53,233,901	V313E	possibly damaging	Het
Ahr	G	T	12: 35,512,772		probably benign	Het
Ankrd12	T	A	17: 66,049,879	M48L	probably benign	Het
Apaf1	A	C	10: 91,023,718		probably null	Het
Bank1	T	C	3: 136,284,011	H106R	probably benign	Het
Birc6	A	G	17: 74,561,265		probably benign	Het
Ccdc170	C	T	10: 4,561,016	H692Y	possibly damaging	Het
Cd93	A	G	2: 148,442,151	I425T	probably benign	Het
Celsr1	A	C	15: 86,030,571	L1067R	possibly damaging	Het
Clca3a2	A	T	3: 144,813,686		probably benign	Het
Col14a1	T	C	15: 55,388,594	S549P	unknown	Het
Col6a4	A	G	9: 106,074,939	S587P	possibly damaging	Het
Crebbp	C	A	16: 4,085,323	M2017I	probably benign	Het
Crybg1	A	C	10: 43,998,107	F1002V	probably benign	Het
Ctif	T	C	18: 75,521,387	E356G	probably damaging	Het
Dbx2	T	C	15: 95,632,358	K243E	probably damaging	Het
Dgkh	C	T	14: 78,616,517	V394I	probably damaging	Het
Dnaja4	T	A	9: 54,714,354	M321K	probably benign	Het
Dock9	T	C	14: 121,628,912	N593S	probably damaging	Het
Dot1l	T	A	10: 80,790,726	S1260R	probably damaging	Het
Eea1	A	T	10: 95,995,648	L200F	probably damaging	Het
Elp2	T	G	18: 24,632,776	F658V	probably benign	Het
Fbxw15	G	A	9: 109,565,400	Q116*	probably null	Het
Fstl5	A	T	3: 76,708,109	N826Y	probably damaging	Het
Galp	T	C	7: 6,211,348	S60P	possibly damaging	Het
Gatsl3	A	G	11: 4,220,141	E73G	probably benign	Het
Gm13103	A	G	4: 143,851,775	S202G	probably benign	Het
Gm4778	A	C	3: 94,265,846	S50R	possibly damaging	Het
Gm7298	G	T	6: 121,784,434	M1316I	probably benign	Het
Gsdmc	T	C	15: 63,778,053	M330V	probably benign	Het
Hectd2	T	C	19: 36,585,462	F175L	probably benign	Het
Hmbs	A	G	9: 44,336,805	I318T	possibly damaging	Het
Ifi205	T	C	1: 174,028,275	D63G	probably benign	Het
Il10ra	T	A	9: 45,256,098	Q387L	probably damaging	Het
Kcnj14	C	A	7: 45,819,964	G39V	probably benign	Het
Kpna1	T	C	16: 36,016,011		probably benign	Het
Lrp2	A	T	2: 69,501,652	D1586E	probably damaging	Het
Lrrc45	A	G	11: 120,717,121	I243V	probably benign	Het
Lrrc7	T	C	3: 158,240,501	K187R	probably benign	Het
Mamdc4	G	T	2: 25,563,359	T1216N	probably damaging	Het
Map1a	A	C	2: 121,303,664	K1654Q	probably benign	Het
Mta2	G	A	19: 8,946,740	V195M	probably damaging	Het
Nav2	G	T	7: 49,558,813	R1583L	probably damaging	Het
Olfr1217	A	T	2: 89,023,964	L13Q	probably damaging	Het
Olfr1393	A	T	11: 49,280,420	T91S	probably benign	Het
Olfr1499	T	C	19: 13,815,371	Y73C	probably damaging	Het
Osbpl1a	T	A	18: 12,869,017		probably benign	Het
Pcdh17	T	C	14: 84,447,644	V517A	possibly damaging	Het
Pcdhb14	T	A	18: 37,450,104	C754*	probably null	Het
Pkd1	T	C	17: 24,573,014	V1225A	probably damaging	Het
Plekhm3	T	C	1: 64,921,643	N485D	probably benign	Het
Plekho1	A	C	3: 95,995,683	S14A	unknown	Het
Ppp2r3a	A	T	9: 101,212,807	C106S	probably benign	Het
Ppp6c	A	C	2: 39,204,916	L99R	probably damaging	Het
Prkdc	T	A	16: 15,835,227	Y3855*	probably null	Het
Ptpru	A	T	4: 131,776,254	I1155N	possibly damaging	Het
Reln	C	T	5: 22,011,061	G1042D	probably damaging	Het
Sall4	A	G	2: 168,754,853	V689A	probably benign	Het
Sec31b	C	T	19: 44,519,302	G768S	probably damaging	Het
Serpinb10	T	A	1: 107,546,819	V237D	probably benign	Het
Serpinb9	T	G	13: 33,015,596	D291E	probably benign	Het
Slc12a7	T	G	13: 73,805,970		probably benign	Het
Slfn8	A	T	11: 83,017,076	F214I	probably damaging	Het
Slu7	A	T	11: 43,438,125	D58V	probably damaging	Het
Smu1	T	C	4: 40,745,558	Y254C	probably damaging	Het
Snapc4	A	T	2: 26,370,793	Y479*	probably null	Het
Specc1l	A	G	10: 75,230,806	N30D	probably benign	Het
Tbck	T	C	3: 132,722,369		probably null	Het
Tcf7l1	T	C	6: 72,633,276	Y246C	probably damaging	Het
Tmem43	C	T	6: 91,486,915	R391W	possibly damaging	Het
Trav7-1	T	G	14: 52,655,109	S40A	possibly damaging	Het
Trim45	T	A	3: 100,925,124	Y224*	probably null	Het
Trio	A	T	15: 27,852,011	I798N	possibly damaging	Het
Trnau1ap	A	T	4: 132,329,351		probably null	Het
Vmn1r213	T	C	13: 23,011,873	S209P	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
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
R9356:Ythdf1	UTSW	2	180912205	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TTGTTGGGCACATCCTTCAC -3'
(R):5'- GGAAATGCCCAACCTACTTCTG -3'

Sequencing Primer
(F):5'- TGTTGGGCACATCCTTCACAAAAATC -3'
(R):5'- GAGTGTAGAATCCCACCCTGTC -3'

Posted On

2021-11-19