Incidental Mutation 'IGL00585:Ythdc2'
ID 14899
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 # IGL00585
Quality Score
Status
Chromosome 18
Chromosomal Location 44961521-45022787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44997428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 340 (Y340C)
Ref Sequence ENSEMBL: ENSMUSP00000144479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037763] [ENSMUST00000201507]
AlphaFold B2RR83
Predicted Effect probably damaging
Transcript: ENSMUST00000037763
AA Change: Y995C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653
AA Change: Y995C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000201507
AA Change: Y340C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144479
Gene: ENSMUSG00000034653
AA Change: Y340C

DomainStartEndE-ValueType
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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,519,294 (GRCm39) I664F probably damaging Het
Abcg4 A T 9: 44,192,920 (GRCm39) M142K probably benign Het
Afdn A G 17: 14,104,890 (GRCm39) T1198A probably damaging Het
Angptl2 T C 2: 33,136,239 (GRCm39) S475P probably damaging Het
Ap3s2 T C 7: 79,565,824 (GRCm39) E34G probably benign Het
C1qtnf9 T C 14: 61,017,442 (GRCm39) F324S probably damaging Het
Cacng7 A G 7: 3,414,547 (GRCm39) Y170C probably damaging Het
Ceacam18 G A 7: 43,286,435 (GRCm39) V103M possibly damaging Het
Chrnb1 G A 11: 69,684,742 (GRCm39) P144S probably damaging Het
Chuk T C 19: 44,066,751 (GRCm39) H652R probably damaging Het
Ckap5 C T 2: 91,450,170 (GRCm39) L1948F probably damaging Het
Clstn1 A T 4: 149,722,769 (GRCm39) H469L probably benign Het
Csf2rb2 C T 15: 78,169,047 (GRCm39) G594S possibly damaging Het
Ctsq A T 13: 61,184,941 (GRCm39) D248E probably benign Het
Ep400 A T 5: 110,903,771 (GRCm39) I276K possibly damaging Het
Gbf1 G A 19: 46,272,688 (GRCm39) probably null Het
Gldn T A 9: 54,245,748 (GRCm39) I433N probably damaging Het
Gm136 T A 4: 34,752,322 (GRCm39) E69V probably damaging Het
Gm28177 T C 1: 52,121,738 (GRCm39) probably null Het
Gtf2h2 A G 13: 100,617,506 (GRCm39) probably benign Het
Ints12 T C 3: 132,806,570 (GRCm39) probably null Het
Ltbp4 T C 7: 27,026,158 (GRCm39) D615G probably damaging Het
Mgme1 C T 2: 144,113,909 (GRCm39) P4S probably benign Het
Nae1 A G 8: 105,252,910 (GRCm39) probably null Het
Nup133 G A 8: 124,636,733 (GRCm39) A956V probably damaging Het
Oacyl T A 18: 65,882,711 (GRCm39) M529K possibly damaging Het
Osbpl1a T A 18: 12,890,683 (GRCm39) E519V possibly damaging Het
Pacs1 A T 19: 5,203,726 (GRCm39) V333E probably damaging Het
Pik3c3 T G 18: 30,436,131 (GRCm39) probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Ppp6r3 A G 19: 3,540,826 (GRCm39) C431R probably damaging Het
Pprc1 T C 19: 46,051,087 (GRCm39) S206P possibly damaging Het
Rab20 A G 8: 11,504,212 (GRCm39) Y163H probably benign Het
Sde2 T A 1: 180,683,383 (GRCm39) C46S possibly damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spata20 T G 11: 94,369,943 (GRCm39) L784F probably damaging Het
Tnnt1 A C 7: 4,510,549 (GRCm39) M224R possibly damaging Het
Trank1 T C 9: 111,178,358 (GRCm39) F349L possibly damaging Het
Ttf1 T C 2: 28,963,895 (GRCm39) probably benign Het
Usp54 T A 14: 20,623,905 (GRCm39) S651C probably damaging Het
Vps45 A G 3: 95,907,378 (GRCm39) *571R probably null Het
Yod1 G A 1: 130,646,870 (GRCm39) G249E probably damaging Het
Zfp366 G A 13: 99,383,080 (GRCm39) probably benign Het
Zfp648 T A 1: 154,079,935 (GRCm39) D31E possibly damaging Het
Other mutations in Ythdc2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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