Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02524:Ythdc2'

296983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ythdc2

Ensembl Gene

ENSMUSG00000034653

Gene Name

YTH domain containing 2

Synonyms

3010002F02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02524

Quality Score

Status

Chromosome

Chromosomal Location

44961521-45022787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44980921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 505 (H505Q)

Ref Sequence

ENSEMBL: ENSMUSP00000048340 (fasta)

Gene Model

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

AlphaFold

B2RR83

Predicted Effect

probably damaging
Transcript: ENSMUST00000037763
AA Change: H505Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653
AA Change: H505Q

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acvr1	T	C	2: 58,338,319 (GRCm39)		probably benign	Het
Asap3	A	T	4: 135,965,927 (GRCm39)	T453S	probably damaging	Het
Ccdc110	C	T	8: 46,394,979 (GRCm39)	P290L	probably benign	Het
Ccdc127	A	G	13: 74,501,016 (GRCm39)	N11S	probably damaging	Het
Cd80	T	C	16: 38,303,045 (GRCm39)	V164A	probably benign	Het
Ctnna3	T	C	10: 64,096,605 (GRCm39)	I381T	possibly damaging	Het
Epha7	A	T	4: 28,821,494 (GRCm39)	T220S	possibly damaging	Het
Etnppl	A	G	3: 130,424,320 (GRCm39)		probably benign	Het
Far2	T	A	6: 148,052,156 (GRCm39)	L145Q	probably damaging	Het
Fdxr	A	G	11: 115,162,086 (GRCm39)		probably null	Het
Jmy	A	G	13: 93,609,268 (GRCm39)	V347A	probably damaging	Het
Kcns2	A	G	15: 34,838,981 (GRCm39)	I115V	probably benign	Het
Kif2a	A	G	13: 107,100,863 (GRCm39)	L627S	possibly damaging	Het
Krtap26-1	A	G	16: 88,444,367 (GRCm39)	S85P	possibly damaging	Het
Ldlr	C	A	9: 21,644,977 (GRCm39)	D168E	probably damaging	Het
Lrrc8e	T	G	8: 4,285,392 (GRCm39)	L539R	probably damaging	Het
Mmp8	A	G	9: 7,560,506 (GRCm39)	E61G	probably damaging	Het
Msh2	T	C	17: 87,985,785 (GRCm39)	F121L	probably benign	Het
Myh4	A	G	11: 67,140,066 (GRCm39)	K638E	possibly damaging	Het
Ndufaf6	A	G	4: 11,059,091 (GRCm39)	F246S	probably benign	Het
Nynrin	C	T	14: 56,108,931 (GRCm39)	A1346V	possibly damaging	Het
Or8k53	A	C	2: 86,177,686 (GRCm39)	C141W	probably damaging	Het
P2rx1	C	T	11: 72,900,474 (GRCm39)	P196L	probably damaging	Het
Pbx3	T	C	2: 34,260,830 (GRCm39)		probably benign	Het
Psen2	A	T	1: 180,073,232 (GRCm39)	S30T	probably benign	Het
Rack1	T	C	11: 48,694,298 (GRCm39)	V166A	probably benign	Het
Rpgrip1	A	G	14: 52,358,511 (GRCm39)	T206A	probably benign	Het
Rrp7a	A	G	15: 83,002,379 (GRCm39)		probably benign	Het
Slco1b2	C	T	6: 141,616,798 (GRCm39)	T377I	probably benign	Het
Spmip11	G	A	15: 98,469,006 (GRCm39)		probably null	Het
Sult2a6	A	T	7: 13,970,611 (GRCm39)	S162T	possibly damaging	Het
Syt2	A	G	1: 134,669,703 (GRCm39)	K115E	probably benign	Het
Tet1	A	G	10: 62,714,425 (GRCm39)	S457P	probably damaging	Het
Trbv3	A	G	6: 41,025,599 (GRCm39)	E63G	possibly damaging	Het
Unc13d	T	C	11: 115,961,145 (GRCm39)	Y404C	probably damaging	Het
Usp32	G	A	11: 84,900,837 (GRCm39)	R1128*	probably null	Het
Vps4a	G	A	8: 107,763,383 (GRCm39)		probably benign	Het
Ywhab	T	A	2: 163,858,057 (GRCm39)	L208Q	probably damaging	Het
Zfyve16	T	C	13: 92,641,022 (GRCm39)	K1241E	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
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
R5147:Ythdc2	UTSW	18	44,977,359 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2015-04-16