Mutagenetix > Incidental Mutation

Incidental Mutation 'R8916:Mettl23'

678949

Institutional Source

Beutler Lab

Gene Symbol

Mettl23

Ensembl Gene

ENSMUSG00000090266

Gene Name

methyltransferase like 23

Synonyms

4933424L15Rik, 1110005A03Rik, 1500035B17Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R8916 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116734341-116740566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116740111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 194 (T194I)

Ref Sequence

ENSEMBL: ENSMUSP00000101978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000092404] [ENSMUST00000106363] [ENSMUST00000106365] [ENSMUST00000106370] [ENSMUST00000136012] [ENSMUST00000136914] [ENSMUST00000139954] [ENSMUST00000143184] [ENSMUST00000153084] [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: ENSMUST00000106363

SMART Domains

Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	92	6e-26	PFAM

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

probably damaging
Transcript: ENSMUST00000106370
AA Change: T194I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266
AA Change: T194I

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: 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: 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: ENSMUST00000153084

SMART Domains

Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
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

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: 100.0%
10x: 99.9%
20x: 99.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	G	13: 70,941,307 (GRCm39)	L360S	probably damaging	Het
AW554918	T	C	18: 25,423,049 (GRCm39)	Y167H	probably damaging	Het
Cdh18	A	T	15: 23,410,813 (GRCm39)	I433F	probably damaging	Het
Cenpj	A	T	14: 56,790,352 (GRCm39)	F566I	probably damaging	Het
Cntn4	T	A	6: 106,652,915 (GRCm39)	Y795N	probably damaging	Het
Col4a4	C	T	1: 82,501,667 (GRCm39)	G362E	unknown	Het
Crebrf	A	G	17: 26,958,583 (GRCm39)	T18A	probably damaging	Het
D130043K22Rik	G	A	13: 25,056,254 (GRCm39)	V529I	probably benign	Het
Dars2	T	C	1: 160,881,552 (GRCm39)	T326A	probably benign	Het
Eif4e	T	C	3: 138,256,043 (GRCm39)		probably benign	Het
Enpp2	T	C	15: 54,733,722 (GRCm39)	M413V	possibly damaging	Het
Fbn1	T	C	2: 125,245,149 (GRCm39)	D246G	possibly damaging	Het
Foxred2	A	G	15: 77,837,514 (GRCm39)	S241P	probably damaging	Het
Fras1	T	C	5: 96,900,774 (GRCm39)	F2998L	probably damaging	Het
Garin4	A	G	1: 190,895,857 (GRCm39)	I262T	probably benign	Het
Grb10	T	C	11: 11,901,599 (GRCm39)	T192A	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Hinfp	A	T	9: 44,209,673 (GRCm39)	F234I	probably damaging	Het
Hmcn1	A	T	1: 150,649,530 (GRCm39)	I652N	probably damaging	Het
Kif24	T	C	4: 41,394,963 (GRCm39)	K771E	probably benign	Het
Lhcgr	A	G	17: 89,061,170 (GRCm39)		probably null	Het
Lnpk	A	T	2: 74,358,486 (GRCm39)	S358T	probably benign	Het
Lpcat2	A	T	8: 93,596,316 (GRCm39)	M118L	probably benign	Het
Lypd1	T	A	1: 125,801,120 (GRCm39)	T127S	unknown	Het
Mga	T	C	2: 119,788,819 (GRCm39)	V2227A	possibly damaging	Het
Mus81	A	T	19: 5,534,214 (GRCm39)	V368E	probably damaging	Het
Myo3a	T	A	2: 22,457,704 (GRCm39)	F1046I	probably damaging	Het
Nfia	G	A	4: 97,888,667 (GRCm39)	V222I	probably benign	Het
Niban2	T	A	2: 32,811,106 (GRCm39)	M372K	possibly damaging	Het
Nop9	A	G	14: 55,991,101 (GRCm39)	E586G	probably benign	Het
Nr2e1	G	A	10: 42,443,864 (GRCm39)	A286V	possibly damaging	Het
Nup153	G	A	13: 46,863,462 (GRCm39)	Q300*	probably null	Het
Plaat1	A	G	16: 29,039,259 (GRCm39)	D113G	possibly damaging	Het
Pnp2	T	C	14: 51,201,234 (GRCm39)	L202P	probably damaging	Het
Prss3b	T	A	6: 41,010,103 (GRCm39)	H77L	probably damaging	Het
Psen2	A	G	1: 180,063,495 (GRCm39)	F183L	probably benign	Het
Rint1	G	T	5: 23,992,826 (GRCm39)		probably benign	Het
Rsf1	GGC	GGCGGCGGCCGC	7: 97,229,140 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,608,635 (GRCm39)	R2335L	probably damaging	Het
Scn1a	T	C	2: 66,108,127 (GRCm39)	D1544G	probably damaging	Het
Sec31b	A	C	19: 44,520,783 (GRCm39)	S175A		Het
Sgcg	A	G	14: 61,474,341 (GRCm39)	S101P	probably damaging	Het
Shb	A	T	4: 45,489,154 (GRCm39)	S241T	probably damaging	Het
Slc47a2	A	T	11: 61,193,118 (GRCm39)	L545Q	probably damaging	Het
Spata31g1	C	A	4: 42,973,034 (GRCm39)	P789H	probably damaging	Het
Spef2	C	A	15: 9,725,266 (GRCm39)	E164*	probably null	Het
Sphkap	A	T	1: 83,255,108 (GRCm39)	N880K	possibly damaging	Het
Taf2	A	G	15: 54,899,931 (GRCm39)	V894A	probably benign	Het
Tgfa	T	G	6: 86,248,436 (GRCm39)	L146R	probably damaging	Het
Tlr3	C	T	8: 45,856,076 (GRCm39)	V35I	probably benign	Het
Tlr4	G	A	4: 66,847,268 (GRCm39)	V132I	probably benign	Het
Tsen34	C	T	7: 3,697,340 (GRCm39)		probably benign	Het
Ttc13	T	G	8: 125,409,976 (GRCm39)	K412T	probably damaging	Het
Unc45b	A	G	11: 82,804,038 (GRCm39)	I72V	probably benign	Het
Vmn1r195	A	G	13: 22,463,139 (GRCm39)	Y203C	probably damaging	Het
Vmn2r65	T	A	7: 84,595,665 (GRCm39)	T340S	probably benign	Het
Vmn2r88	T	A	14: 51,648,593 (GRCm39)	C46S		Het
Ythdf2	A	T	4: 131,931,830 (GRCm39)	D443E	probably damaging	Het
Zeb2	T	C	2: 44,886,796 (GRCm39)	R754G	probably damaging	Het
Zfp236	T	A	18: 82,664,351 (GRCm39)	E478V	probably damaging	Het
Zfp287	A	T	11: 62,605,136 (GRCm39)	Y590*	probably null	Het
Zfp9	A	T	6: 118,442,223 (GRCm39)	C146*	probably null	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
R8308:Mettl23	UTSW	11	116,739,185 (GRCm39)	critical splice donor site	probably null
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'- GGACATTCTGTCTTTGCCAC -3'
(R):5'- CTTGTCGGCATCAAAAGACTCC -3'

Sequencing Primer
(F):5'- TGTCTTTGCCACCACAAGAC -3'
(R):5'- TCCAGAGGAATATGCACACATTTC -3'

Posted On

2021-08-02