Incidental Mutation 'R6545:Mettl23'
ID 521130
Institutional Source Beutler Lab
Gene Symbol Mettl23
Ensembl Gene ENSMUSG00000090266
Gene Name methyltransferase like 23
Synonyms 4933424L15Rik, 1110005A03Rik, 1500035B17Rik
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116734341-116740566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116740042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 171 (D171G)
Ref Sequence ENSEMBL: ENSMUSP00000101978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000092404] [ENSMUST00000106363] [ENSMUST00000106365] [ENSMUST00000106370] [ENSMUST00000136012] [ENSMUST00000153084] [ENSMUST00000139954] [ENSMUST00000143184] [ENSMUST00000136914] [ENSMUST00000190993]
AlphaFold A2AA28
Predicted Effect probably benign
Transcript: ENSMUST00000021173
SMART Domains Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 166 6.5e-56 PFAM
transmembrane domain 173 190 N/A INTRINSIC
transmembrane domain 239 261 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
transmembrane domain 305 327 N/A INTRINSIC
transmembrane domain 410 432 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 benign
Transcript: ENSMUST00000106363
SMART Domains Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 92 6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106365
SMART Domains Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106370
AA Change: D171G

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266
AA Change: D171G

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Methyltransf_16 48 203 9.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125920
Predicted Effect probably benign
Transcript: ENSMUST00000136012
SMART Domains Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135135
Predicted Effect probably benign
Transcript: ENSMUST00000153084
SMART Domains Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 115 7.4e-33 PFAM
transmembrane domain 119 138 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 224 246 N/A INTRINSIC
transmembrane domain 253 275 N/A INTRINSIC
transmembrane domain 358 380 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128784
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 noncoding transcript
Transcript: ENSMUST00000151944
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: ENSMUST00000140869
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 noncoding transcript
Transcript: ENSMUST00000138484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126661
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176799
Predicted Effect probably benign
Transcript: ENSMUST00000176834
Meta Mutation Damage Score 0.4884 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Mettl23
AlleleSourceChrCoordTypePredicted EffectPPH Score
stretch UTSW 11 116,739,865 (GRCm39) nonsense probably null
R0437:Mettl23 UTSW 11 116,740,120 (GRCm39) missense possibly damaging 0.90
R4243:Mettl23 UTSW 11 116,739,126 (GRCm39) missense possibly damaging 0.87
R5564:Mettl23 UTSW 11 116,739,865 (GRCm39) nonsense probably null
R5573:Mettl23 UTSW 11 116,734,437 (GRCm39) unclassified probably benign
R5593:Mettl23 UTSW 11 116,734,593 (GRCm39) missense probably damaging 0.98
R6077:Mettl23 UTSW 11 116,739,728 (GRCm39) missense possibly damaging 0.66
R7315:Mettl23 UTSW 11 116,739,928 (GRCm39) missense probably benign 0.41
R7775:Mettl23 UTSW 11 116,740,096 (GRCm39) missense probably benign 0.00
R7778:Mettl23 UTSW 11 116,740,096 (GRCm39) missense probably benign 0.00
R7898:Mettl23 UTSW 11 116,736,679 (GRCm39) unclassified probably benign
R8308:Mettl23 UTSW 11 116,739,185 (GRCm39) critical splice donor site probably null
R8916:Mettl23 UTSW 11 116,740,111 (GRCm39) missense probably damaging 1.00
R9051:Mettl23 UTSW 11 116,744,865 (GRCm39) missense unknown
R9211:Mettl23 UTSW 11 116,734,469 (GRCm39) missense unknown
X0060:Mettl23 UTSW 11 116,734,466 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GTTGCCAGATGAATAACCTGCC -3'
(R):5'- CCTTCAAGTGACCAGTCAGCAC -3'

Sequencing Primer
(F):5'- CTGCCACAGGTCGAAGTTGTAG -3'
(R):5'- ATACTCACCTTCGGACCTG -3'
Posted On 2018-06-06