Mutagenetix > Incidental Mutation

Incidental Mutation 'R5147:Ythdc2'

395181

Institutional Source

Beutler Lab

Gene Symbol

Ythdc2

Ensembl Gene

ENSMUSG00000034653

Gene Name

YTH domain containing 2

Synonyms

3010002F02Rik

MMRRC Submission

042731-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5147 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

44961521-45022787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44977359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 385 (G385E)

Ref Sequence

ENSEMBL: ENSMUSP00000048340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037763]

AlphaFold

B2RR83

Predicted Effect

probably damaging
Transcript: ENSMUST00000037763
AA Change: G385E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653
AA Change: G385E

Domain	Start	End	E-Value	Type
low complexity region	2	50	N/A	INTRINSIC
Pfam:R3H	59	119	1.7e-15	PFAM
DEXDc	206	393	4.95e-26	SMART
low complexity region	413	428	N/A	INTRINSIC
ANK	521	550	2.79e1	SMART
ANK	554	583	1.5e2	SMART
HELICc	648	759	5.31e-17	SMART
HA2	823	916	2.58e-22	SMART
Pfam:OB_NTP_bind	953	1082	1.3e-18	PFAM
low complexity region	1263	1299	N/A	INTRINSIC
Pfam:YTH	1303	1434	7.2e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201099

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male infertility with arrested meiosis and small gonads. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,851,149 (GRCm39)	Y2121H	probably benign	Het
Adgrf2	A	G	17: 43,021,574 (GRCm39)	Y417H	probably damaging	Het
Ap5z1	A	C	5: 142,452,265 (GRCm39)	D66A	probably benign	Het
Cachd1	T	A	4: 100,821,688 (GRCm39)	Y422N	probably damaging	Het
Cfap54	C	T	10: 92,773,700 (GRCm39)	G114D	probably benign	Het
Cgref1	C	T	5: 31,091,049 (GRCm39)	G255E	probably benign	Het
Cyp2a22	A	C	7: 26,635,750 (GRCm39)	L271R	probably damaging	Het
Dcp2	G	T	18: 44,550,662 (GRCm39)	E379*	probably null	Het
Fhl3	T	A	4: 124,601,724 (GRCm39)	D277E	probably benign	Het
Gm19684	C	T	17: 36,439,411 (GRCm39)	V190M	probably damaging	Het
Hpse	T	C	5: 100,867,375 (GRCm39)	D29G	probably benign	Het
Il31	T	C	5: 123,620,121 (GRCm39)		probably benign	Het
Ilk	T	C	7: 105,391,774 (GRCm39)	C422R	possibly damaging	Het
Itga1	T	G	13: 115,121,678 (GRCm39)	D777A	possibly damaging	Het
Kank3	A	G	17: 34,041,176 (GRCm39)	D556G	probably damaging	Het
Lrit3	A	G	3: 129,597,574 (GRCm39)	S36P	possibly damaging	Het
Magi1	C	T	6: 93,724,248 (GRCm39)	E256K	probably damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
Mymk	C	T	2: 26,952,299 (GRCm39)	M148I	probably benign	Het
Nlrp12	T	A	7: 3,290,003 (GRCm39)	I170F	possibly damaging	Het
Odad3	T	C	9: 21,906,158 (GRCm39)	E260G	probably benign	Het
Or5al7	A	T	2: 85,992,378 (GRCm39)	I305K	possibly damaging	Het
Or5an11	T	A	19: 12,246,268 (GRCm39)	S225T	probably damaging	Het
Pkd1l1	G	A	11: 8,799,003 (GRCm39)	T1803I	possibly damaging	Het
Ppp2r2b	C	T	18: 42,778,942 (GRCm39)	V398I	probably benign	Het
Ppp2r5e	T	A	12: 75,516,544 (GRCm39)	R214S	probably damaging	Het
Prss16	T	C	13: 22,190,264 (GRCm39)	D298G	possibly damaging	Het
Qprt	G	A	7: 126,707,622 (GRCm39)	R189W	probably damaging	Het
Rara	C	T	11: 98,841,550 (GRCm39)	S36F	probably benign	Het
Rasal2	A	G	1: 157,003,264 (GRCm39)	V465A	probably damaging	Het
Slc22a1	C	T	17: 12,869,838 (GRCm39)	G508R	probably damaging	Het
Slco2a1	C	A	9: 102,927,468 (GRCm39)	F120L	probably damaging	Het
Tex15	T	A	8: 34,062,340 (GRCm39)	L864*	probably null	Het
Tssk4	A	G	14: 55,888,430 (GRCm39)	I100V	possibly damaging	Het
Vgll4	A	G	6: 114,867,576 (GRCm39)		probably null	Het
Vmn1r65	T	G	7: 6,011,818 (GRCm39)	I139L	probably benign	Het
Vps13b	C	T	15: 35,456,824 (GRCm39)	P757S	probably benign	Het

Other mutations in Ythdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ythdc2	APN	18	44,993,040 (GRCm39)	missense	probably benign
IGL00341:Ythdc2	APN	18	44,983,464 (GRCm39)	missense	probably benign	0.00
IGL00502:Ythdc2	APN	18	44,980,879 (GRCm39)	missense	probably damaging	0.99
IGL00585:Ythdc2	APN	18	44,997,428 (GRCm39)	missense	probably damaging	1.00
IGL01081:Ythdc2	APN	18	44,983,726 (GRCm39)	missense	probably benign	0.19
IGL01569:Ythdc2	APN	18	45,020,718 (GRCm39)	missense	probably benign
IGL01577:Ythdc2	APN	18	44,991,349 (GRCm39)	missense	probably benign	0.00
IGL01617:Ythdc2	APN	18	44,974,482 (GRCm39)	missense	possibly damaging	0.53
IGL01674:Ythdc2	APN	18	44,993,471 (GRCm39)	missense	probably benign	0.04
IGL01736:Ythdc2	APN	18	44,983,735 (GRCm39)	missense	probably damaging	0.97
IGL02095:Ythdc2	APN	18	45,006,207 (GRCm39)	splice site	probably benign
IGL02245:Ythdc2	APN	18	44,995,751 (GRCm39)	missense	possibly damaging	0.74
IGL02524:Ythdc2	APN	18	44,980,921 (GRCm39)	missense	probably damaging	0.98
IGL02542:Ythdc2	APN	18	44,973,308 (GRCm39)	missense	probably damaging	1.00
IGL02622:Ythdc2	APN	18	44,993,001 (GRCm39)	missense	probably damaging	0.99
IGL02795:Ythdc2	APN	18	44,970,505 (GRCm39)	missense	possibly damaging	0.95
IGL02935:Ythdc2	APN	18	44,988,112 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Ythdc2	UTSW	18	44,967,665 (GRCm39)	missense	probably benign	0.19
R0115:Ythdc2	UTSW	18	44,974,490 (GRCm39)	splice site	probably benign
R0329:Ythdc2	UTSW	18	44,998,127 (GRCm39)	splice site	probably benign
R0472:Ythdc2	UTSW	18	44,997,424 (GRCm39)	missense	probably benign	0.02
R0530:Ythdc2	UTSW	18	44,983,465 (GRCm39)	missense	probably damaging	0.99
R0547:Ythdc2	UTSW	18	44,973,331 (GRCm39)	missense	possibly damaging	0.92
R0563:Ythdc2	UTSW	18	44,997,915 (GRCm39)	splice site	probably benign
R0609:Ythdc2	UTSW	18	44,997,424 (GRCm39)	missense	probably benign	0.02
R1291:Ythdc2	UTSW	18	44,988,276 (GRCm39)	missense	probably benign	0.33
R1469:Ythdc2	UTSW	18	44,997,529 (GRCm39)	missense	probably benign	0.00
R1469:Ythdc2	UTSW	18	44,997,529 (GRCm39)	missense	probably benign	0.00
R1724:Ythdc2	UTSW	18	44,961,757 (GRCm39)	missense	probably benign	0.04
R1860:Ythdc2	UTSW	18	45,006,023 (GRCm39)	missense	possibly damaging	0.86
R2040:Ythdc2	UTSW	18	44,988,241 (GRCm39)	nonsense	probably null
R2308:Ythdc2	UTSW	18	44,980,815 (GRCm39)	missense	possibly damaging	0.95
R3711:Ythdc2	UTSW	18	44,966,240 (GRCm39)	missense	probably damaging	0.98
R4005:Ythdc2	UTSW	18	44,966,195 (GRCm39)	missense	probably benign	0.00
R4580:Ythdc2	UTSW	18	44,991,265 (GRCm39)	missense	possibly damaging	0.81
R4631:Ythdc2	UTSW	18	45,020,698 (GRCm39)	missense	probably benign	0.03
R4815:Ythdc2	UTSW	18	45,018,307 (GRCm39)	missense	probably benign	0.40
R4924:Ythdc2	UTSW	18	44,980,871 (GRCm39)	missense	probably damaging	1.00
R4982:Ythdc2	UTSW	18	45,004,532 (GRCm39)	missense	probably benign	0.01
R5011:Ythdc2	UTSW	18	44,987,809 (GRCm39)	missense	probably benign	0.38
R5141:Ythdc2	UTSW	18	44,998,114 (GRCm39)	missense	probably benign	0.01
R5280:Ythdc2	UTSW	18	44,993,688 (GRCm39)	missense	probably damaging	1.00
R5388:Ythdc2	UTSW	18	44,990,092 (GRCm39)	missense	possibly damaging	0.65
R5928:Ythdc2	UTSW	18	44,966,272 (GRCm39)	missense	probably benign
R5931:Ythdc2	UTSW	18	45,006,023 (GRCm39)	missense	possibly damaging	0.86
R5995:Ythdc2	UTSW	18	45,019,320 (GRCm39)	missense	probably damaging	1.00
R6027:Ythdc2	UTSW	18	44,993,503 (GRCm39)	missense	probably benign	0.02
R6056:Ythdc2	UTSW	18	44,973,277 (GRCm39)	missense	probably damaging	0.98
R6318:Ythdc2	UTSW	18	44,993,444 (GRCm39)	missense	probably benign	0.04
R6399:Ythdc2	UTSW	18	45,019,469 (GRCm39)	missense	possibly damaging	0.93
R6586:Ythdc2	UTSW	18	44,978,855 (GRCm39)	missense	probably benign	0.00
R6684:Ythdc2	UTSW	18	45,006,136 (GRCm39)	missense	possibly damaging	0.47
R7040:Ythdc2	UTSW	18	44,967,529 (GRCm39)	missense	probably benign	0.02
R7071:Ythdc2	UTSW	18	44,978,855 (GRCm39)	missense	probably benign	0.00
R7105:Ythdc2	UTSW	18	44,967,630 (GRCm39)	missense	probably damaging	1.00
R7148:Ythdc2	UTSW	18	44,966,189 (GRCm39)	missense	probably benign	0.42
R7290:Ythdc2	UTSW	18	44,970,558 (GRCm39)	missense	possibly damaging	0.50
R7806:Ythdc2	UTSW	18	44,983,491 (GRCm39)	missense	probably benign	0.05
R7806:Ythdc2	UTSW	18	44,977,353 (GRCm39)	missense	possibly damaging	0.91
R8114:Ythdc2	UTSW	18	45,010,807 (GRCm39)	missense	probably benign	0.15
R8820:Ythdc2	UTSW	18	44,967,531 (GRCm39)	nonsense	probably null
R8840:Ythdc2	UTSW	18	44,993,691 (GRCm39)	missense	probably damaging	1.00
R8998:Ythdc2	UTSW	18	44,997,371 (GRCm39)	missense	probably benign	0.31
R9065:Ythdc2	UTSW	18	44,977,418 (GRCm39)	missense	probably benign	0.00
R9196:Ythdc2	UTSW	18	44,988,464 (GRCm39)	missense	probably damaging	0.96
R9251:Ythdc2	UTSW	18	44,974,442 (GRCm39)	missense	probably benign	0.00
R9331:Ythdc2	UTSW	18	44,970,499 (GRCm39)	missense	possibly damaging	0.87
R9469:Ythdc2	UTSW	18	45,019,383 (GRCm39)	missense	probably damaging	1.00
R9634:Ythdc2	UTSW	18	45,006,037 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGAAGCCAGCTGTTCATTCTC -3'
(R):5'- CAAGTGTACTAGTTCTTCTGTAAGC -3'

Sequencing Primer
(F):5'- ATTCTCGACAGCTGTCTACAGAG -3'
(R):5'- AAATCCTACCTCGTTGCTT -3'

Posted On

2016-06-21