Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4618001:Ythdc2'

555713

Institutional Source

Beutler Lab

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 #

PIT4618001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44961521-45022787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44967665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 220 (I220M)

Ref Sequence

ENSEMBL: ENSMUSP00000048340 (fasta)

Gene Model

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

AlphaFold

B2RR83

Predicted Effect

probably benign
Transcript: ENSMUST00000037763
AA Change: I220M

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653
AA Change: I220M

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

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 85.9%
20x: 75.2%

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
1700028K03Rik	A	T	5: 107,693,575 (GRCm39)	D64V	probably damaging	Het
Ankdd1a	A	C	9: 65,414,932 (GRCm39)	I268S	possibly damaging	Het
Atad3a	C	T	4: 155,834,595 (GRCm39)	R402Q	probably benign	Het
C3ar1	A	G	6: 122,827,746 (GRCm39)	V157A	probably benign	Het
Cd200l1	A	G	16: 45,264,297 (GRCm39)	F87S	probably benign	Het
Cd55	C	T	1: 130,384,606 (GRCm39)	V206I	probably benign	Het
Cd8a	A	G	6: 71,350,661 (GRCm39)	D42G	possibly damaging	Het
Cemip	G	T	7: 83,593,147 (GRCm39)	F1185L	probably benign	Het
Cfap58	A	G	19: 47,963,953 (GRCm39)	D527G	probably damaging	Het
Cyp2a12	C	A	7: 26,734,198 (GRCm39)	S377Y	probably benign	Het
Dapk2	A	G	9: 66,175,968 (GRCm39)	D289G	probably benign	Het
Efcab6	G	A	15: 83,867,647 (GRCm39)	A277V	probably benign	Het
Ephx2	A	T	14: 66,339,671 (GRCm39)	F250L	probably damaging	Het
Flg2	A	T	3: 93,111,088 (GRCm39)	S1039C	unknown	Het
Gramd1a	A	G	7: 30,832,021 (GRCm39)	V674A	probably benign	Het
Gtf2a1	A	C	12: 91,534,543 (GRCm39)	V237G	probably benign	Het
I830077J02Rik	G	A	3: 105,833,886 (GRCm39)	T90M	probably damaging	Het
Jagn1	T	A	6: 113,424,398 (GRCm39)	L90H	probably damaging	Het
Mdn1	G	T	4: 32,746,527 (GRCm39)	A4158S	probably benign	Het
Myh11	G	A	16: 14,018,930 (GRCm39)	A1839V		Het
Olr1	G	A	6: 129,476,869 (GRCm39)	A132V	probably damaging	Het
Paqr3	A	T	5: 97,251,330 (GRCm39)	H131Q	possibly damaging	Het
Pde4b	A	T	4: 102,460,009 (GRCm39)	T397S	probably benign	Het
Pon1	A	G	6: 5,168,349 (GRCm39)	C353R	probably damaging	Het
Ppie	G	A	4: 123,032,661 (GRCm39)	T43I	probably null	Het
Prr5l	A	G	2: 101,588,875 (GRCm39)	F92L	probably damaging	Het
Rai14	T	C	15: 10,575,242 (GRCm39)	Y601C	probably damaging	Het
Rasal1	A	G	5: 120,808,441 (GRCm39)	D491G	probably damaging	Het
Rbm12b1	T	A	4: 12,145,441 (GRCm39)	V471E	probably damaging	Het
Rpusd2	T	C	2: 118,868,933 (GRCm39)	L452P	possibly damaging	Het
Scgb2b24	A	T	7: 33,438,036 (GRCm39)	C24S	probably damaging	Het
Slc17a5	C	T	9: 78,445,530 (GRCm39)	V468M	possibly damaging	Het
Tcp10c	A	G	17: 13,576,772 (GRCm39)	K117R	possibly damaging	Het
Ubash3b	A	G	9: 40,927,923 (GRCm39)	S584P	probably benign	Het
Vps13b	C	T	15: 35,709,386 (GRCm39)	R1778C	probably damaging	Het
Zfp474	C	A	18: 52,771,476 (GRCm39)	T43K	probably damaging	Het
Zscan4-ps3	G	A	7: 11,347,261 (GRCm39)	M432I	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
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

Predicted Primers

PCR Primer
(F):5'- CGCTGGGTAGTGAAGACTGTAG -3'
(R):5'- GAATTTGAACTCTATGCCCAGTCTC -3'

Sequencing Primer
(F):5'- GAGCACAGGAAATTATGTAGCTTC -3'
(R):5'- GTTCTACATAGTAAGTGCCAGCCAG -3'

Posted On

2019-06-07