Incidental Mutation 'R1940:Ythdf3'
ID213899
Institutional Source Beutler Lab
Gene Symbol Ythdf3
Ensembl Gene ENSMUSG00000047213
Gene NameYTH domain family 3
Synonyms9130022A11Rik
MMRRC Submission 039958-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.369) question?
Stock #R1940 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location16183212-16217037 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 16205092 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 468 (N468D)
Ref Sequence ENSEMBL: ENSMUSP00000103982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108345] [ENSMUST00000108346] [ENSMUST00000191774]
Predicted Effect possibly damaging
Transcript: ENSMUST00000108345
AA Change: N468D

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103982
Gene: ENSMUSG00000047213
AA Change: N468D

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
low complexity region 134 161 N/A INTRINSIC
low complexity region 244 255 N/A INTRINSIC
low complexity region 289 351 N/A INTRINSIC
low complexity region 379 394 N/A INTRINSIC
Pfam:YTH 415 553 1.5e-50 PFAM
low complexity region 567 582 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108346
AA Change: N479D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103983
Gene: ENSMUSG00000047213
AA Change: N479D

DomainStartEndE-ValueType
low complexity region 59 75 N/A INTRINSIC
low complexity region 145 172 N/A INTRINSIC
low complexity region 255 266 N/A INTRINSIC
low complexity region 300 362 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
Pfam:YTH 427 562 1.1e-44 PFAM
low complexity region 578 593 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000191774
AA Change: N472D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141610
Gene: ENSMUSG00000047213
AA Change: N472D

DomainStartEndE-ValueType
low complexity region 52 68 N/A INTRINSIC
low complexity region 138 165 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
low complexity region 293 355 N/A INTRINSIC
low complexity region 383 398 N/A INTRINSIC
Pfam:YTH 419 557 1.6e-50 PFAM
low complexity region 571 586 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193598
Meta Mutation Damage Score 0.1092 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.7%
Validation Efficiency 98% (108/110)
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 YTH (YT521-B homology) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Allele List at MGI
Other mutations in this stock
Total: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,233,852 S2496R probably damaging Het
Abca16 T C 7: 120,433,609 probably benign Het
Ace2 A T X: 164,156,528 M123L possibly damaging Het
Acvr1c A T 2: 58,283,505 N248K probably damaging Het
Adam24 A T 8: 40,681,361 R623* probably null Het
Agbl2 T A 2: 90,811,282 L752Q probably damaging Het
Ankrd26 A T 6: 118,511,693 F1335Y probably damaging Het
Ankrd34a A G 3: 96,598,676 S399G probably benign Het
Ap3d1 G A 10: 80,709,773 P1041S probably benign Het
Arid3b A T 9: 57,796,148 M466K possibly damaging Het
Arsj T C 3: 126,438,346 I247T probably damaging Het
AU016765 G A 17: 64,519,878 noncoding transcript Het
Azin2 C T 4: 128,950,784 probably null Het
Bcat2 T C 7: 45,588,368 Y313H possibly damaging Het
Cables2 A G 2: 180,260,080 V465A probably damaging Het
Ccdc60 G A 5: 116,126,165 H517Y probably damaging Het
Cd55b A T 1: 130,418,106 probably null Het
Cdc40 G A 10: 40,883,071 probably benign Het
Cdh7 G A 1: 110,049,024 V140I probably benign Het
Cfi T C 3: 129,858,828 probably benign Het
Chit1 G A 1: 134,145,418 probably null Het
Chn1 A G 2: 73,624,901 C39R probably damaging Het
Ciao1 A G 2: 127,246,460 S148P possibly damaging Het
Clmn G A 12: 104,790,102 T163I probably damaging Het
Cngb1 C A 8: 95,299,692 G154W probably damaging Het
Col19a1 A T 1: 24,264,750 C1117* probably null Het
Cyp2d10 T A 15: 82,405,294 I206F probably benign Het
Ddrgk1 G T 2: 130,663,560 probably benign Het
Ddx18 A T 1: 121,555,224 V611D probably damaging Het
Dnah8 A T 17: 30,731,207 H2000L probably damaging Het
Duox1 T C 2: 122,325,984 V464A probably benign Het
Dync2h1 A G 9: 7,139,159 probably null Het
Eif4enif1 A G 11: 3,243,279 H857R probably damaging Het
Elmo2 A G 2: 165,292,050 probably benign Het
Fam171b CCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGC 2: 83,812,874 probably benign Het
Glrx A G 13: 75,840,137 I57V probably benign Het
Gm281 A T 14: 13,828,582 M726K probably null Het
Golm1 A T 13: 59,642,237 probably benign Het
Grm3 G A 5: 9,511,682 R723W probably damaging Het
Gsta3 G A 1: 21,257,377 R45Q probably benign Het
Gtf3c3 A C 1: 54,428,958 probably benign Het
Hk3 C T 13: 55,011,391 V451I probably damaging Het
Hoxa10 C A 6: 52,234,370 G189C possibly damaging Het
Hs3st3b1 T C 11: 63,889,743 D186G probably benign Het
Hscb G T 5: 110,836,060 H63N probably benign Het
Itpr3 A G 17: 27,111,217 E1603G probably damaging Het
Ivl T A 3: 92,572,749 H3L probably benign Het
Klhl26 C A 8: 70,452,261 R252L probably damaging Het
Krt31 T A 11: 100,048,243 T251S probably benign Het
Lama5 T C 2: 180,190,921 N1646S probably benign Het
Lhx3 T C 2: 26,203,962 D83G probably benign Het
Lss C A 10: 76,545,462 N427K possibly damaging Het
Mettl24 G A 10: 40,737,726 A154T probably benign Het
Mgat4a A T 1: 37,536,037 probably null Het
Moxd2 C T 6: 40,883,532 R326Q probably damaging Het
Mpdz G A 4: 81,361,443 A669V probably benign Het
Msra G A 14: 64,285,056 probably benign Het
Muc13 A T 16: 33,807,911 T344S probably benign Het
Myo3b T C 2: 70,258,075 I866T probably benign Het
Nbea T C 3: 55,953,100 S1852G possibly damaging Het
Ncf2 A G 1: 152,834,064 probably benign Het
Nfyc C A 4: 120,773,664 probably benign Het
Nop2 T C 6: 125,134,634 V110A probably benign Het
Nrg2 C A 18: 36,196,844 probably benign Het
Nrl A G 14: 55,522,435 Y12H probably damaging Het
Nrxn3 T C 12: 89,260,381 V635A probably damaging Het
Olfr1014 T A 2: 85,777,171 S196T probably benign Het
Olfr1415 T A 1: 92,491,735 T7S probably benign Het
Olfr1423 A C 19: 12,035,911 V277G probably benign Het
Olfr228 T A 2: 86,483,359 K128* probably null Het
Papolg A T 11: 23,867,279 N639K probably benign Het
Paqr4 T C 17: 23,737,664 I242V probably damaging Het
Pramel6 A T 2: 87,508,732 K92M probably damaging Het
Prg4 T C 1: 150,456,023 T300A possibly damaging Het
Ptprb A T 10: 116,319,610 probably benign Het
Rab28 A T 5: 41,625,790 S216T probably benign Het
Rrp1b A T 17: 32,056,845 R455S possibly damaging Het
Sash1 A T 10: 8,729,932 M898K probably benign Het
Scn8a C T 15: 100,970,204 T310I probably benign Het
Secisbp2l C A 2: 125,740,339 D1066Y probably damaging Het
Sipa1l2 A G 8: 125,480,148 probably benign Het
Slc12a1 A G 2: 125,194,193 T662A probably benign Het
Slc12a4 T C 8: 105,946,037 I749V probably benign Het
Slc22a27 A G 19: 7,909,727 S266P probably damaging Het
Slc25a14 G A X: 48,651,963 V210I probably benign Het
Slit1 T A 19: 41,630,776 N762I probably damaging Het
Spata31d1b C A 13: 59,718,021 D994E possibly damaging Het
Sphk1 A G 11: 116,535,850 I204V probably benign Het
Srsf6 C T 2: 162,934,483 probably benign Het
Svs1 A T 6: 48,990,073 K652* probably null Het
Tet2 T C 3: 133,488,638 T12A possibly damaging Het
Tgfbi A T 13: 56,614,314 Q70L possibly damaging Het
Tlr9 T C 9: 106,224,647 L379P probably damaging Het
Tnrc6c A G 11: 117,756,023 D1450G possibly damaging Het
Tra2b A G 16: 22,255,045 probably benign Het
Trit1 T C 4: 123,054,240 I451T probably benign Het
Trnau1ap A G 4: 132,321,803 Y30H probably damaging Het
Ttc34 G A 4: 154,865,682 A1031T possibly damaging Het
Ubiad1 A G 4: 148,444,011 L147P probably damaging Het
Ush2a A G 1: 188,951,561 D4979G probably null Het
Usp50 C T 2: 126,778,023 R123Q probably benign Het
Vmn2r117 A T 17: 23,477,480 Y318N probably damaging Het
Whamm C T 7: 81,578,299 T304I probably null Het
Wipf2 C T 11: 98,892,410 R221* probably null Het
Zbtb17 T C 4: 141,465,548 I486T possibly damaging Het
Zfp3 T C 11: 70,771,376 S54P probably benign Het
Zscan10 A T 17: 23,609,852 H379L probably damaging Het
Other mutations in Ythdf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02585:Ythdf3 APN 3 16189478 missense probably benign 0.01
IGL03068:Ythdf3 APN 3 16204718 missense possibly damaging 0.92
Disinclined UTSW 3 16203192 nonsense probably null
R0501:Ythdf3 UTSW 3 16205072 missense probably damaging 0.98
R0644:Ythdf3 UTSW 3 16204892 missense possibly damaging 0.46
R1667:Ythdf3 UTSW 3 16204892 missense possibly damaging 0.46
R2121:Ythdf3 UTSW 3 16205192 missense possibly damaging 0.71
R2191:Ythdf3 UTSW 3 16203211 intron probably benign
R2341:Ythdf3 UTSW 3 16203215 intron probably benign
R2512:Ythdf3 UTSW 3 16204895 missense possibly damaging 0.66
R2850:Ythdf3 UTSW 3 16203818 splice site probably benign
R3037:Ythdf3 UTSW 3 16205191 missense probably benign 0.32
R4934:Ythdf3 UTSW 3 16204056 missense probably damaging 0.97
R5007:Ythdf3 UTSW 3 16205198 missense possibly damaging 0.51
R5164:Ythdf3 UTSW 3 16183513 missense possibly damaging 0.67
R5172:Ythdf3 UTSW 3 16204034 missense probably damaging 1.00
R5480:Ythdf3 UTSW 3 16183500 missense possibly damaging 0.83
R5512:Ythdf3 UTSW 3 16183922 missense probably damaging 0.98
R6059:Ythdf3 UTSW 3 16203192 nonsense probably null
R6104:Ythdf3 UTSW 3 16205161 missense possibly damaging 0.51
R6273:Ythdf3 UTSW 3 16204856 missense possibly damaging 0.92
R6721:Ythdf3 UTSW 3 16203861 missense possibly damaging 0.72
R7187:Ythdf3 UTSW 3 16204287 missense probably benign 0.05
R7285:Ythdf3 UTSW 3 16203885 splice site probably null
R7307:Ythdf3 UTSW 3 16183500 missense possibly damaging 0.83
R7816:Ythdf3 UTSW 3 16189517 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CAAAGACTTTGATTGGAACCTGAAG -3'
(R):5'- GGGTACTTCTTGAGTGTCCC -3'

Sequencing Primer
(F):5'- CTTTGATTGGAACCTGAAGAATGGAC -3'
(R):5'- ACTTCTTGAGTGTCCCTTGAATTG -3'
Posted On2014-07-14