Mutagenetix > Incidental Mutation

Incidental Mutation 'R8308:Mettl23'

641205

Institutional Source

Beutler Lab

Gene Symbol

Mettl23

Ensembl Gene

ENSMUSG00000090266

Gene Name

methyltransferase like 23

Synonyms

4933424L15Rik, 1110005A03Rik, 1500035B17Rik

MMRRC Submission

067793-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R8308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116734341-116740566 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 116739185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047616] [ENSMUST00000092404] [ENSMUST00000106370] [ENSMUST00000136914] [ENSMUST00000139954] [ENSMUST00000143184] [ENSMUST00000190993]

AlphaFold

A2AA28

Predicted Effect

probably benign
Transcript: ENSMUST00000047616

SMART Domains

Protein: ENSMUSP00000047570
Gene: ENSMUSG00000056962

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,570 (GRCm39)	D341G	probably damaging	Het
Abca17	T	C	17: 24,486,657 (GRCm39)	T1457A	probably damaging	Het
Acot8	A	T	2: 164,646,663 (GRCm39)	S25R	probably benign	Het
Ap2a2	T	C	7: 141,210,212 (GRCm39)	V850A	probably benign	Het
Baiap2l1	T	A	5: 144,214,487 (GRCm39)	E402D	probably benign	Het
Bptf	T	C	11: 106,943,815 (GRCm39)	K2689E	probably damaging	Het
Cdh22	C	A	2: 164,954,098 (GRCm39)	D808Y	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cipc	A	G	12: 87,008,809 (GRCm39)	T223A	probably benign	Het
Crem	G	T	18: 3,295,397 (GRCm39)	T57K	possibly damaging	Het
Cyp17a1	T	A	19: 46,656,516 (GRCm39)	I393F	probably benign	Het
Dgcr2	C	T	16: 17,676,242 (GRCm39)	G176D	probably benign	Het
Dock3	C	A	9: 106,790,371 (GRCm39)	V1451L	probably benign	Het
Dsg2	C	T	18: 20,708,121 (GRCm39)	P74L	probably benign	Het
Ece1	T	C	4: 137,664,075 (GRCm39)	V224A	probably damaging	Het
Flg	A	T	3: 93,190,586 (GRCm39)	S152C	unknown	Het
Gcsam	A	T	16: 45,430,902 (GRCm39)	N3I	probably damaging	Het
Gm10188	C	T	1: 132,157,310 (GRCm39)	V19I	unknown	Het
Gpr27	T	C	6: 99,670,217 (GRCm39)	L193P	probably damaging	Het
Grin2b	A	T	6: 135,900,074 (GRCm39)	V269E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Kif14	A	G	1: 136,443,651 (GRCm39)	I1275V	possibly damaging	Het
Krt27	T	C	11: 99,239,862 (GRCm39)	E234G	probably benign	Het
Lmo7	T	C	14: 102,139,807 (GRCm39)		probably null	Het
Matk	T	G	10: 81,094,121 (GRCm39)	S18A	probably benign	Het
Mbd3l1	A	G	9: 18,395,886 (GRCm39)	T4A	probably benign	Het
Ncam1	A	T	9: 49,479,817 (GRCm39)	W54R	probably damaging	Het
Olfm5	A	G	7: 103,803,606 (GRCm39)	Y286H	probably damaging	Het
Or10d5j	T	A	9: 39,868,265 (GRCm39)	M1L	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or4q3	T	C	14: 50,582,922 (GRCm39)	I326V	probably benign	Het
Or5ac15	C	T	16: 58,939,899 (GRCm39)	C178Y	probably damaging	Het
Pmch	A	G	10: 87,927,614 (GRCm39)	Y105C	probably damaging	Het
Prg3	A	G	2: 84,819,676 (GRCm39)	T57A	probably benign	Het
Ptpn13	A	G	5: 103,688,838 (GRCm39)	E877G	probably damaging	Het
Ptprt	A	G	2: 161,769,566 (GRCm39)	V433A	probably benign	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Scara5	C	T	14: 65,927,234 (GRCm39)	R44W	probably damaging	Het
Scg2	T	G	1: 79,414,576 (GRCm39)	K49T	probably benign	Het
Slc40a1	A	G	1: 45,950,180 (GRCm39)	I424T	probably benign	Het
Slc4a8	T	A	15: 100,693,735 (GRCm39)	S479T	probably damaging	Het
Sorl1	T	C	9: 41,929,456 (GRCm39)	D1139G	probably damaging	Het
Srcap	A	G	7: 127,152,353 (GRCm39)	I2206V	possibly damaging	Het
Tpk1	T	C	6: 43,642,711 (GRCm39)	E9G	probably benign	Het
Ttn	C	T	2: 76,642,645 (GRCm39)	V13297I	possibly damaging	Het
Uchl3	T	C	14: 101,932,655 (GRCm39)		probably null	Het
Usp12	T	C	5: 146,688,751 (GRCm39)	D201G	probably damaging	Het
Vmn1r193	C	T	13: 22,403,146 (GRCm39)	R282H	probably benign	Het
Vmn2r104	T	C	17: 20,261,040 (GRCm39)	D461G	possibly damaging	Het
Zfp131	A	G	13: 120,244,440 (GRCm39)	M80T	possibly damaging	Het
Zfp457	A	G	13: 67,441,663 (GRCm39)	L304P	probably benign	Het
Zswim3	A	G	2: 164,663,566 (GRCm39)	E682G	probably damaging	Het

Other mutations in Mettl23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6545:Mettl23	UTSW	11	116,740,042 (GRCm39)	missense	possibly damaging	0.88
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
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'- TGCCAGGTGTGAACTAGAGC -3'
(R):5'- TAGAAAATAACCTGACTGTAGTGCCAG -3'

Sequencing Primer
(F):5'- CAGGCCAGGAGTGTCATG -3'
(R):5'- GGATTAGCCACTTAGACCTCTG -3'

Posted On

2020-07-28