Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00321:Ythdc2'

14898

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 #

IGL00321

Quality Score

Status

Chromosome

Chromosomal Location

44961521-45022787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44993040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 149 (T149A)

Ref Sequence

ENSEMBL: ENSMUSP00000144479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037763] [ENSMUST00000201507]

AlphaFold

B2RR83

Predicted Effect

probably benign
Transcript: ENSMUST00000037763
AA Change: T804A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653
AA Change: T804A

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

probably benign
Transcript: ENSMUST00000201507
AA Change: T149A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144479
Gene: ENSMUSG00000034653
AA Change: T149A

Domain	Start	End	E-Value	Type
HELICc	5	104	9.1e-19	SMART
HA2	168	261	2e-26	SMART
Pfam:OB_NTP_bind	298	427	6e-16	PFAM
low complexity region	570	582	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202176

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,078,418 (GRCm39)	I602T	probably benign	Het
Adam39	A	G	8: 41,279,783 (GRCm39)	R725G	possibly damaging	Het
Arid2	A	G	15: 96,186,970 (GRCm39)	E74G	probably damaging	Het
Carf	T	A	1: 60,164,001 (GRCm39)		probably benign	Het
Cit	A	T	5: 115,984,524 (GRCm39)	Q32L	probably damaging	Het
Dennd4b	A	G	3: 90,178,514 (GRCm39)	T526A	possibly damaging	Het
Dnhd1	A	G	7: 105,327,202 (GRCm39)	E717G	probably damaging	Het
Ercc6	T	A	14: 32,290,029 (GRCm39)	I968N	probably damaging	Het
Fcrl1	A	T	3: 87,296,942 (GRCm39)	Y297F	probably damaging	Het
Gas2l3	A	G	10: 89,249,489 (GRCm39)	L543P	probably benign	Het
Hid1	A	T	11: 115,249,895 (GRCm39)	D84E	probably benign	Het
Ifit1bl2	C	T	19: 34,597,319 (GRCm39)	S99N	probably benign	Het
Kpna3	A	G	14: 61,629,302 (GRCm39)		probably benign	Het
Myadm	C	A	7: 3,345,739 (GRCm39)	P167Q	possibly damaging	Het
Ociad1	C	T	5: 73,461,886 (GRCm39)		probably benign	Het
Or2t43	A	C	11: 58,457,593 (GRCm39)	Y193D	probably damaging	Het
Pcdh11x	A	T	X: 119,502,265 (GRCm39)	K1029N	probably benign	Het
Pcdhb11	A	G	18: 37,555,026 (GRCm39)	T119A	probably benign	Het
Phldb2	T	C	16: 45,592,617 (GRCm39)	R926G	probably damaging	Het
Ppwd1	A	G	13: 104,353,651 (GRCm39)	F369S	probably damaging	Het
Rreb1	T	A	13: 38,100,472 (GRCm39)	M201K	probably benign	Het
Ryr1	A	T	7: 28,802,235 (GRCm39)	I795N	probably damaging	Het
Slc3a1	T	C	17: 85,368,261 (GRCm39)	W510R	probably damaging	Het
Slc44a5	T	C	3: 153,968,576 (GRCm39)	L589P	probably damaging	Het
Tfr2	A	G	5: 137,572,717 (GRCm39)	D176G	probably null	Het
Tom1	T	A	8: 75,778,802 (GRCm39)	S24T	probably benign	Het
Vmn2r66	T	A	7: 84,656,299 (GRCm39)	Q239L	probably benign	Het
Zc3h3	A	G	15: 75,651,162 (GRCm39)	I686T	probably damaging	Het

Other mutations in Ythdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06