Mutagenetix > Incidental Mutation

Incidental Mutation 'R8385:Ythdc1'

647109

Institutional Source

Beutler Lab

Gene Symbol

Ythdc1

Ensembl Gene

ENSMUSG00000035851

Gene Name

YTH domain containing 1

Synonyms

A730098D12Rik

MMRRC Submission

067751-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R8385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86952080-86984518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86975961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 529 (P529T)

Ref Sequence

ENSEMBL: ENSMUSP00000039133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038384] [ENSMUST00000119339] [ENSMUST00000120498] [ENSMUST00000156363]

AlphaFold

E9Q5K9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038384
AA Change: P529T

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039133
Gene: ENSMUSG00000035851
AA Change: P529T

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	225	249	6e-3	SMART
low complexity region	269	280	N/A	INTRINSIC
low complexity region	316	330	N/A	INTRINSIC
Pfam:YTH	356	494	5e-42	PFAM
low complexity region	516	540	N/A	INTRINSIC
low complexity region	609	622	N/A	INTRINSIC
low complexity region	625	645	N/A	INTRINSIC
low complexity region	682	736	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000119339
AA Change: P511T

SMART Domains

Protein: ENSMUSP00000113000
Gene: ENSMUSG00000035851
AA Change: P511T

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	225	249	6e-3	SMART
low complexity region	269	280	N/A	INTRINSIC
Pfam:YTH	337	478	4.4e-44	PFAM
low complexity region	498	522	N/A	INTRINSIC
low complexity region	583	596	N/A	INTRINSIC
low complexity region	599	619	N/A	INTRINSIC
low complexity region	656	710	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000120498
AA Change: P529T

SMART Domains

Protein: ENSMUSP00000113951
Gene: ENSMUSG00000035851
AA Change: P529T

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	225	249	6e-3	SMART
low complexity region	269	280	N/A	INTRINSIC
low complexity region	316	330	N/A	INTRINSIC
Pfam:YTH	355	496	4.6e-44	PFAM
low complexity region	516	540	N/A	INTRINSIC
low complexity region	601	614	N/A	INTRINSIC
low complexity region	617	637	N/A	INTRINSIC
low complexity region	674	728	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156363
AA Change: P523T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122491
Gene: ENSMUSG00000035851
AA Change: P523T

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	237	261	8e-3	SMART
low complexity region	281	292	N/A	INTRINSIC
Pfam:YTH	350	488	3e-42	PFAM
low complexity region	510	525	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brap	C	T	5: 121,823,197 (GRCm39)	T473I	probably benign	Het
Cacna1e	T	A	1: 154,319,687 (GRCm39)	M1400L	probably damaging	Het
Catsper2	A	G	2: 121,240,621 (GRCm39)	I127T	possibly damaging	Het
Dbt	A	T	3: 116,317,039 (GRCm39)	I72F	probably damaging	Het
Ddhd2	T	C	8: 26,225,041 (GRCm39)	H592R	probably damaging	Het
Disp2	T	A	2: 118,620,891 (GRCm39)	M541K	probably damaging	Het
Dnai7	C	T	6: 145,120,918 (GRCm39)	E685K	probably damaging	Het
Dnmbp	T	C	19: 43,878,090 (GRCm39)	D327G	probably benign	Het
Dvl1	A	G	4: 155,940,037 (GRCm39)	S390G	possibly damaging	Het
Fbxo22	A	G	9: 55,121,233 (GRCm39)	D106G	probably damaging	Het
Gfm2	A	G	13: 97,301,519 (GRCm39)	T441A	probably benign	Het
Gm5431	T	C	11: 48,780,347 (GRCm39)	I192V	probably damaging	Het
Gosr1	T	A	11: 76,620,967 (GRCm39)	T241S	possibly damaging	Het
Hk2	T	C	6: 82,706,527 (GRCm39)	S792G	probably benign	Het
Itsn1	A	C	16: 91,690,699 (GRCm39)	K1302Q	unknown	Het
Kif16b	T	C	2: 142,554,258 (GRCm39)	K847E	probably benign	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Mark3	A	G	12: 111,621,808 (GRCm39)	D650G	possibly damaging	Het
Mgat4f	A	G	1: 134,318,376 (GRCm39)	K383E	probably benign	Het
Mob3b	T	C	4: 34,985,980 (GRCm39)	Y186C	probably damaging	Het
Mphosph9	T	C	5: 124,450,785 (GRCm39)	K329E	probably benign	Het
Mta1	A	T	12: 113,095,085 (GRCm39)	M448L	probably benign	Het
Mterf1a	A	T	5: 3,941,384 (GRCm39)	N161K	probably damaging	Het
Myo10	T	A	15: 25,804,484 (GRCm39)	I1593N	probably damaging	Het
Naca	A	G	10: 127,878,307 (GRCm39)	N1113S	unknown	Het
Or2w4	T	C	13: 21,795,522 (GRCm39)	I206V	probably benign	Het
Or5e1	T	G	7: 108,354,511 (GRCm39)	Y149*	probably null	Het
Pcdhga1	A	T	18: 37,795,149 (GRCm39)	D51V	probably damaging	Het
Peg3	T	C	7: 6,711,082 (GRCm39)	E1380G	probably damaging	Het
Pkd1	G	A	17: 24,794,702 (GRCm39)	V2130M	possibly damaging	Het
Pla2g4c	C	T	7: 13,063,589 (GRCm39)	P19S	probably benign	Het
Popdc2	G	A	16: 38,183,262 (GRCm39)	V82I	probably benign	Het
Ppfibp2	A	G	7: 107,296,894 (GRCm39)	R203G	probably benign	Het
Rab19	T	A	6: 39,360,892 (GRCm39)	N13K	probably benign	Het
Raet1d	T	A	10: 22,246,817 (GRCm39)	D48E	probably benign	Het
Rell1	T	A	5: 64,087,861 (GRCm39)	K136*	probably null	Het
Slc38a4	A	G	15: 96,897,393 (GRCm39)	I474T	probably damaging	Het
Slf1	T	C	13: 77,254,109 (GRCm39)	M243V	probably benign	Het
Spata31f1a	C	T	4: 42,850,509 (GRCm39)	R549H	possibly damaging	Het
Speer4c2	A	T	5: 15,857,669 (GRCm39)	S203T	unknown	Het
Spg11	A	T	2: 121,927,802 (GRCm39)	S661T	probably benign	Het
Thra	C	G	11: 98,659,177 (GRCm39)	S435R	probably benign	Het
Tmem181a	T	C	17: 6,339,274 (GRCm39)	I61T	probably benign	Het
Ttpa	G	A	4: 20,028,483 (GRCm39)	G247S	probably damaging	Het
Usp17lb	C	T	7: 104,489,830 (GRCm39)	V366I	possibly damaging	Het
Vit	A	T	17: 78,927,066 (GRCm39)	Q337L	probably benign	Het
Vmn2r102	A	G	17: 19,914,088 (GRCm39)	Y551C	possibly damaging	Het
Vps52	T	C	17: 34,181,791 (GRCm39)	L539P	probably damaging	Het
Zdhhc13	T	C	7: 48,455,444 (GRCm39)		probably null	Het
Zfp282	A	T	6: 47,882,023 (GRCm39)	Y570F	possibly damaging	Het
Zfp872	A	T	9: 22,111,407 (GRCm39)	K295N	probably damaging	Het

Other mutations in Ythdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00676:Ythdc1	APN	5	86,979,670 (GRCm39)	missense	probably damaging	1.00
IGL02222:Ythdc1	APN	5	86,975,902 (GRCm39)	missense	possibly damaging	0.72
R0091:Ythdc1	UTSW	5	86,968,560 (GRCm39)	intron	probably benign
R0311:Ythdc1	UTSW	5	86,983,564 (GRCm39)	missense	probably damaging	0.97
R0349:Ythdc1	UTSW	5	86,983,579 (GRCm39)	missense	probably damaging	1.00
R0630:Ythdc1	UTSW	5	86,957,207 (GRCm39)	splice site	probably benign
R1662:Ythdc1	UTSW	5	86,975,981 (GRCm39)	critical splice donor site	probably null
R1907:Ythdc1	UTSW	5	86,978,489 (GRCm39)	missense	probably damaging	1.00
R2100:Ythdc1	UTSW	5	86,964,544 (GRCm39)	missense	possibly damaging	0.62
R2911:Ythdc1	UTSW	5	86,964,418 (GRCm39)	missense	possibly damaging	0.95
R3692:Ythdc1	UTSW	5	86,970,526 (GRCm39)	missense	probably damaging	0.98
R4042:Ythdc1	UTSW	5	86,964,383 (GRCm39)	missense	probably benign	0.03
R4398:Ythdc1	UTSW	5	86,983,679 (GRCm39)	utr 3 prime	probably benign
R4398:Ythdc1	UTSW	5	86,963,513 (GRCm39)	missense	possibly damaging	0.95
R4608:Ythdc1	UTSW	5	86,970,667 (GRCm39)	missense	probably damaging	0.97
R4806:Ythdc1	UTSW	5	86,970,704 (GRCm39)	missense	probably damaging	0.99
R5291:Ythdc1	UTSW	5	86,983,547 (GRCm39)	missense	probably damaging	1.00
R5761:Ythdc1	UTSW	5	86,983,810 (GRCm39)	utr 3 prime	probably benign
R6180:Ythdc1	UTSW	5	86,975,953 (GRCm39)	missense	possibly damaging	0.91
R6249:Ythdc1	UTSW	5	86,979,815 (GRCm39)	missense	possibly damaging	0.94
R6560:Ythdc1	UTSW	5	86,964,467 (GRCm39)	missense	probably benign	0.06
R7145:Ythdc1	UTSW	5	86,964,467 (GRCm39)	missense	probably benign	0.06
R8072:Ythdc1	UTSW	5	86,969,133 (GRCm39)	nonsense	probably null
R8225:Ythdc1	UTSW	5	86,964,797 (GRCm39)	missense	possibly damaging	0.73
R8225:Ythdc1	UTSW	5	86,964,796 (GRCm39)	missense	possibly damaging	0.91
R8229:Ythdc1	UTSW	5	86,957,167 (GRCm39)	intron	probably benign
R8246:Ythdc1	UTSW	5	86,965,181 (GRCm39)	missense	possibly damaging	0.94
R8284:Ythdc1	UTSW	5	86,964,325 (GRCm39)	missense	probably benign	0.18
R8546:Ythdc1	UTSW	5	86,974,607 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GCAGCTGCACTTGTTGTTTC -3'
(R):5'- ATGTGAAATCCTCAATGAAGCCAC -3'

Sequencing Primer
(F):5'- GCTCCTTGGGAAAAAGTCTTTGAAG -3'
(R):5'- CAAACTAGTCCATGCAGCTTG -3'

Posted On

2020-09-02