Incidental Mutation 'R8308:Mettl23'
ID641205
Institutional Source Beutler Lab
Gene Symbol Mettl23
Ensembl Gene ENSMUSG00000090266
Gene Namemethyltransferase like 23
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.528) question?
Stock #R8308 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location116843278-116854263 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 116848359 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047616] [ENSMUST00000092404] [ENSMUST00000106370] [ENSMUST00000136914] [ENSMUST00000139954] [ENSMUST00000143184] [ENSMUST00000190993]
Predicted Effect probably benign
Transcript: ENSMUST00000047616
SMART Domains Protein: ENSMUSP00000047570
Gene: ENSMUSG00000056962

DomainStartEndE-ValueType
JmjC 141 305 6.09e-48 SMART
low complexity region 340 369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092404
SMART Domains Protein: ENSMUSP00000090059
Gene: ENSMUSG00000034120

DomainStartEndE-ValueType
RRM 15 88 1.79e-25 SMART
low complexity region 101 213 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106370
SMART Domains Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Methyltransf_16 48 203 9.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132593
Predicted Effect probably benign
Transcript: ENSMUST00000136914
SMART Domains Protein: ENSMUSP00000120086
Gene: ENSMUSG00000034120

DomainStartEndE-ValueType
RRM 15 88 1.79e-25 SMART
low complexity region 101 213 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139954
SMART Domains Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140869
Predicted Effect probably benign
Transcript: ENSMUST00000143184
SMART Domains Protein: ENSMUSP00000119131
Gene: ENSMUSG00000090266

DomainStartEndE-ValueType
Pfam:Methyltransf_16 1 82 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176834
Predicted Effect probably benign
Transcript: ENSMUST00000190993
SMART Domains Protein: ENSMUSP00000140016
Gene: ENSMUSG00000034120

DomainStartEndE-ValueType
RRM 15 88 1.79e-25 SMART
low complexity region 101 213 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,267,683 T1457A probably damaging Het
Acot8 A T 2: 164,804,743 S25R probably benign Het
Ap2a2 T C 7: 141,630,299 V850A probably benign Het
Baiap2l1 T A 5: 144,277,677 E402D probably benign Het
Bptf T C 11: 107,052,989 K2689E probably damaging Het
Cdh22 C A 2: 165,112,178 D808Y probably damaging Het
Cilp G A 9: 65,279,004 G794S probably damaging Het
Cipc A G 12: 86,962,035 T223A probably benign Het
Crem G T 18: 3,295,397 T57K possibly damaging Het
Cyp17a1 T A 19: 46,668,077 I393F probably benign Het
Dgcr2 C T 16: 17,858,378 G176D probably benign Het
Dock3 C A 9: 106,913,172 V1451L probably benign Het
Dsg2 C T 18: 20,575,064 P74L probably benign Het
Ece1 T C 4: 137,936,764 V224A probably damaging Het
Flg A T 3: 93,283,279 S152C unknown Het
Gcsam A T 16: 45,610,539 N3I probably damaging Het
Gm10188 C T 1: 132,229,572 V19I unknown Het
Gm5538 A G 3: 59,752,149 D341G probably damaging Het
Gpr27 T C 6: 99,693,256 L193P probably damaging Het
Grin2b A T 6: 135,923,076 V269E probably damaging Het
Hmmr G A 11: 40,721,672 S206F probably damaging Het
Kif14 A G 1: 136,515,913 I1275V possibly damaging Het
Krt27 T C 11: 99,349,036 E234G probably benign Het
Lmo7 T C 14: 101,902,371 probably null Het
Matk T G 10: 81,258,287 S18A probably benign Het
Mbd3l1 A G 9: 18,484,590 T4A probably benign Het
Ncam1 A T 9: 49,568,517 W54R probably damaging Het
Olfm5 A G 7: 104,154,399 Y286H probably damaging Het
Olfr1205 G A 2: 88,831,289 M57I possibly damaging Het
Olfr194 C T 16: 59,119,536 C178Y probably damaging Het
Olfr735 T C 14: 50,345,465 I326V probably benign Het
Olfr976 T A 9: 39,956,969 M1L probably benign Het
Pmch A G 10: 88,091,752 Y105C probably damaging Het
Prg3 A G 2: 84,989,332 T57A probably benign Het
Ptpn13 A G 5: 103,540,972 E877G probably damaging Het
Ptprt A G 2: 161,927,646 V433A probably benign Het
Rufy1 A T 11: 50,406,406 D406E probably benign Het
Scara5 C T 14: 65,689,785 R44W probably damaging Het
Scg2 T G 1: 79,436,859 K49T probably benign Het
Slc40a1 A G 1: 45,911,020 I424T probably benign Het
Slc4a8 T A 15: 100,795,854 S479T probably damaging Het
Sorl1 T C 9: 42,018,160 D1139G probably damaging Het
Srcap A G 7: 127,553,181 I2206V possibly damaging Het
Tpk1 T C 6: 43,665,777 E9G probably benign Het
Ttn C T 2: 76,812,301 V13297I possibly damaging Het
Uchl3 T C 14: 101,695,219 probably null Het
Usp12 T C 5: 146,751,941 D201G probably damaging Het
Vmn1r193 C T 13: 22,218,976 R282H probably benign Het
Vmn2r104 T C 17: 20,040,778 D461G possibly damaging Het
Zfp131 A G 13: 119,782,904 M80T possibly damaging Het
Zfp457 A G 13: 67,293,599 L304P probably benign Het
Zswim3 A G 2: 164,821,646 E682G probably damaging Het
Other mutations in Mettl23
AlleleSourceChrCoordTypePredicted EffectPPH Score
stretch UTSW 11 116849039 nonsense probably null
R0437:Mettl23 UTSW 11 116849294 missense possibly damaging 0.90
R4243:Mettl23 UTSW 11 116848300 missense possibly damaging 0.87
R5564:Mettl23 UTSW 11 116849039 nonsense probably null
R5573:Mettl23 UTSW 11 116843611 unclassified probably benign
R5593:Mettl23 UTSW 11 116843767 missense probably damaging 0.98
R6077:Mettl23 UTSW 11 116848902 missense possibly damaging 0.66
R6545:Mettl23 UTSW 11 116849216 missense possibly damaging 0.88
R7315:Mettl23 UTSW 11 116849102 missense probably benign 0.41
R7775:Mettl23 UTSW 11 116849270 missense probably benign 0.00
R7778:Mettl23 UTSW 11 116849270 missense probably benign 0.00
R7898:Mettl23 UTSW 11 116845853 unclassified probably benign
R8916:Mettl23 UTSW 11 116849285 missense probably damaging 1.00
X0060:Mettl23 UTSW 11 116843640 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGCCAGGTGTGAACTAGAGC -3'
(R):5'- TAGAAAATAACCTGACTGTAGTGCCAG -3'

Sequencing Primer
(F):5'- CAGGCCAGGAGTGTCATG -3'
(R):5'- GGATTAGCCACTTAGACCTCTG -3'
Posted On2020-07-28