Mutagenetix > Incidental Mutation

Incidental Mutation 'R6077:Mettl23'

482807

Institutional Source

Beutler Lab

Gene Symbol

Mettl23

Ensembl Gene

ENSMUSG00000090266

Gene Name

methyltransferase like 23

Synonyms

4933424L15Rik, 1110005A03Rik, 1500035B17Rik

MMRRC Submission

044238-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R6077 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116734341-116740566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116739728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1 (V1A)

Ref Sequence

ENSEMBL: ENSMUSP00000119131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000092404] [ENSMUST00000106365] [ENSMUST00000106370] [ENSMUST00000143184] [ENSMUST00000139954] [ENSMUST00000136012] [ENSMUST00000136914] [ENSMUST00000190993]

AlphaFold

A2AA28

Predicted Effect

probably benign
Transcript: ENSMUST00000021173

SMART Domains

Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
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

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: ENSMUST00000106365

SMART Domains

Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106370
AA Change: V92A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266
AA Change: V92A

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

noncoding transcript
Transcript: ENSMUST00000125920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128784

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143184
AA Change: V1A

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119131
Gene: ENSMUSG00000090266
AA Change: V1A

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	1	82	1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175930

Predicted Effect

probably benign
Transcript: ENSMUST00000140869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135135

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: ENSMUST00000132593

Predicted Effect

probably benign
Transcript: ENSMUST00000136012

SMART Domains

Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176834

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: 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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

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
Acly	C	T	11: 100,410,583 (GRCm39)	V132I	probably benign	Het
Adgrb3	A	T	1: 25,133,081 (GRCm39)	L1335*	probably null	Het
Adgre5	A	G	8: 84,454,595 (GRCm39)	S301P	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aldh1b1	A	G	4: 45,802,525 (GRCm39)	Y21C	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankrd7	T	A	6: 18,868,071 (GRCm39)	S112R	probably benign	Het
Arhgap23	T	A	11: 97,382,058 (GRCm39)		probably null	Het
Atp4a	G	A	7: 30,415,344 (GRCm39)	M321I	probably benign	Het
C2cd4d	A	T	3: 94,271,615 (GRCm39)	R294W	probably damaging	Het
Carns1	T	C	19: 4,220,875 (GRCm39)	I352V	probably benign	Het
Cdh17	T	A	4: 11,803,969 (GRCm39)	S547R	probably benign	Het
Cdyl2	G	T	8: 117,316,129 (GRCm39)	N286K	probably damaging	Het
Fam186a	C	A	15: 99,840,584 (GRCm39)	V1887L	possibly damaging	Het
Fat4	C	T	3: 39,056,951 (GRCm39)	R4216C	probably damaging	Het
Fcamr	T	C	1: 130,740,663 (GRCm39)	W361R	probably damaging	Het
Helz2	G	A	2: 180,874,831 (GRCm39)	P1888S	probably benign	Het
Itih1	A	T	14: 30,651,833 (GRCm39)	F840L	possibly damaging	Het
Kansl2	T	C	15: 98,429,312 (GRCm39)	D146G	probably benign	Het
Kcnk18	T	C	19: 59,223,746 (GRCm39)	V297A	probably damaging	Het
Kif1a	T	C	1: 92,982,618 (GRCm39)	T720A	possibly damaging	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Large2	C	T	2: 92,196,915 (GRCm39)	R423K	probably benign	Het
Lgals3bp	A	G	11: 118,290,568 (GRCm39)	V13A	probably damaging	Het
Lrrd1	A	G	5: 3,900,837 (GRCm39)	I381V	probably benign	Het
Mastl	A	T	2: 23,045,806 (GRCm39)	I23N	probably damaging	Het
Mindy2	A	G	9: 70,538,363 (GRCm39)	V324A	probably damaging	Het
Mtmr4	T	A	11: 87,501,845 (GRCm39)	L633Q	probably damaging	Het
Myh1	G	A	11: 67,102,273 (GRCm39)	E855K	probably damaging	Het
Nin	C	T	12: 70,066,006 (GRCm39)	A2026T	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Or2w1	A	T	13: 21,317,463 (GRCm39)	I173F	probably benign	Het
Otulin	T	C	15: 27,611,696 (GRCm39)	T166A	probably benign	Het
P2ry14	T	A	3: 59,022,798 (GRCm39)	R230W	probably damaging	Het
Pcsk4	T	C	10: 80,162,073 (GRCm39)	E83G	probably damaging	Het
Raet1e	C	A	10: 22,057,887 (GRCm39)	T218N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Safb	G	A	17: 56,909,956 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,527,940 (GRCm39)	N850I	probably damaging	Het
Slc16a4	A	G	3: 107,208,381 (GRCm39)	D297G	possibly damaging	Het
Tcf7l2	A	T	19: 55,905,868 (GRCm39)	K278*	probably null	Het
Tesmin	T	C	19: 3,439,260 (GRCm39)	V104A	possibly damaging	Het
Tiam1	A	G	16: 89,594,918 (GRCm39)		probably null	Het
Tmc4	T	C	7: 3,670,526 (GRCm39)	T522A	probably damaging	Het
Tmprss3	T	A	17: 31,408,141 (GRCm39)	I274F	possibly damaging	Het
Topbp1	A	G	9: 103,210,189 (GRCm39)	K916E	probably damaging	Het
Trdv1	A	G	14: 54,119,513 (GRCm39)	D58G	probably benign	Het
Ube2g2	G	T	10: 77,458,139 (GRCm39)		probably benign	Het
Unc5d	G	T	8: 29,165,335 (GRCm39)	Q747K	possibly damaging	Het
Xpo6	A	G	7: 125,709,124 (GRCm39)	V819A	possibly damaging	Het
Zan	T	A	5: 137,412,559 (GRCm39)		probably benign	Het
Zfp317	T	A	9: 19,558,184 (GRCm39)	W133R	probably benign	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
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
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'- CCTGTAAGCCTGAAGTAGTCC -3'
(R):5'- TATGTGGCCCCATGTCAGTC -3'

Sequencing Primer
(F):5'- ATGCCCGGCCTAAGTACTTAC -3'
(R):5'- AGTCCTACAACTTCGACCTGTGG -3'

Posted On

2017-07-14