Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01878:Mettl21e'

178950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mettl21e

Ensembl Gene

ENSMUSG00000046828

Gene Name

methyltransferase like 21E

Synonyms

4832428D23Rik, LOC381340

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL01878

Quality Score

Status

Chromosome

Chromosomal Location

44243230-44258121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44250193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 71 (S71L)

Ref Sequence

ENSEMBL: ENSMUSP00000056481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054801]

AlphaFold

Q8CDZ2

Predicted Effect

probably null
Transcript: ENSMUST00000054801
AA Change: S71L

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

SMART Domains

Protein: ENSMUSP00000056481
Gene: ENSMUSG00000046828
AA Change: S71L

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	49	217	3.9e-35	PFAM
Pfam:PrmA	74	225	7.1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161563

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox8	G	T	11: 69,087,864 (GRCm39)	Q147K	probably benign	Het
Ankib1	T	A	5: 3,784,152 (GRCm39)	M275L	possibly damaging	Het
Asb2	G	A	12: 103,287,922 (GRCm39)	P546S	possibly damaging	Het
B9d1	T	C	11: 61,398,449 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,557,257 (GRCm39)	D1957G	possibly damaging	Het
Cryzl2	T	C	1: 157,299,970 (GRCm39)	V44A	possibly damaging	Het
Fbxw19	A	C	9: 109,312,347 (GRCm39)		probably benign	Het
Gabrb3	T	C	7: 57,466,163 (GRCm39)	F326L	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm11168	T	C	9: 3,005,204 (GRCm39)	C16R	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm7808	T	A	9: 19,839,542 (GRCm39)		probably benign	Het
Gpam	T	C	19: 55,071,806 (GRCm39)	I312V	probably benign	Het
H2-M10.5	A	G	17: 37,084,708 (GRCm39)	Y144C	probably damaging	Het
Hivep3	T	C	4: 119,952,424 (GRCm39)	S247P	possibly damaging	Het
Hs3st4	T	G	7: 123,996,536 (GRCm39)	C401G	probably damaging	Het
Klhl2	A	G	8: 65,212,858 (GRCm39)	V227A	probably damaging	Het
Lct	T	C	1: 128,222,003 (GRCm39)	N1512S	probably damaging	Het
Lipm	T	A	19: 34,093,911 (GRCm39)	L276Q	possibly damaging	Het
Lmf2	T	A	15: 89,236,621 (GRCm39)	H515L	probably damaging	Het
Mccc1	G	A	3: 36,030,041 (GRCm39)	S423L	probably damaging	Het
Muc16	T	A	9: 18,406,839 (GRCm39)	H251L	possibly damaging	Het
Neb	T	C	2: 52,059,852 (GRCm39)		probably benign	Het
Ntf5	T	C	7: 45,065,450 (GRCm39)	I194T	probably damaging	Het
Or10ag58	T	C	2: 87,265,314 (GRCm39)	I161T	possibly damaging	Het
Or1o4	A	G	17: 37,590,891 (GRCm39)	V140A	possibly damaging	Het
Or2w6	T	C	13: 21,842,953 (GRCm39)	D180G	possibly damaging	Het
Or4x11	T	C	2: 89,867,478 (GRCm39)	S72P	probably damaging	Het
Or9m1	A	T	2: 87,733,675 (GRCm39)	L115*	probably null	Het
Pigv	T	C	4: 133,392,428 (GRCm39)	I247M	probably benign	Het
Pik3r5	A	G	11: 68,383,356 (GRCm39)	N392D	probably benign	Het
Postn	A	G	3: 54,290,901 (GRCm39)		probably null	Het
Prl2c5	G	A	13: 13,360,402 (GRCm39)	S23N	probably benign	Het
Prpf40b	T	C	15: 99,204,413 (GRCm39)	C220R	possibly damaging	Het
Pzp	A	G	6: 128,472,261 (GRCm39)	S843P	probably damaging	Het
Rpl23	C	A	11: 97,669,177 (GRCm39)	R85L	probably benign	Het
Shcbp1	A	G	8: 4,799,721 (GRCm39)	S252P	probably damaging	Het
Slc26a7	C	T	4: 14,519,388 (GRCm39)		probably null	Het
Sptbn4	T	C	7: 27,063,571 (GRCm39)	E2285G	probably damaging	Het
Telo2	G	T	17: 25,320,332 (GRCm39)	T784K	probably benign	Het
Tnfrsf19	C	T	14: 61,234,093 (GRCm39)	V136M	probably damaging	Het
Trpm5	T	A	7: 142,628,234 (GRCm39)	I22F	probably damaging	Het
Trpv6	G	T	6: 41,603,801 (GRCm39)		probably benign	Het
Vmn1r173	T	G	7: 23,401,877 (GRCm39)	H37Q	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo6	T	A	7: 125,773,365 (GRCm39)	H20L	probably benign	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	probably damaging	Het

Other mutations in Mettl21e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Mettl21e	APN	1	44,245,530 (GRCm39)	missense	possibly damaging	0.80
IGL02194:Mettl21e	APN	1	44,250,343 (GRCm39)	missense	probably benign
IGL03032:Mettl21e	APN	1	44,249,319 (GRCm39)	splice site	probably null
IGL03396:Mettl21e	APN	1	44,245,759 (GRCm39)	missense	possibly damaging	0.67
R0165:Mettl21e	UTSW	1	44,250,283 (GRCm39)	missense	probably damaging	1.00
R0363:Mettl21e	UTSW	1	44,250,190 (GRCm39)	critical splice donor site	probably null
R0525:Mettl21e	UTSW	1	44,245,542 (GRCm39)	missense	probably damaging	0.98
R2078:Mettl21e	UTSW	1	44,245,662 (GRCm39)	missense	possibly damaging	0.80
R2143:Mettl21e	UTSW	1	44,249,398 (GRCm39)	missense	probably benign	0.06
R3623:Mettl21e	UTSW	1	44,245,857 (GRCm39)	missense	probably damaging	0.99
R3870:Mettl21e	UTSW	1	44,245,524 (GRCm39)	missense	probably benign	0.01
R4780:Mettl21e	UTSW	1	44,250,303 (GRCm39)	missense	probably benign
R5488:Mettl21e	UTSW	1	44,257,276 (GRCm39)	missense	probably benign
R5654:Mettl21e	UTSW	1	44,250,255 (GRCm39)	missense	probably damaging	1.00
R6490:Mettl21e	UTSW	1	44,249,425 (GRCm39)	missense	probably damaging	0.97
R6697:Mettl21e	UTSW	1	44,249,327 (GRCm39)	missense	probably damaging	1.00
R6804:Mettl21e	UTSW	1	44,257,295 (GRCm39)	missense	probably benign	0.01
R6862:Mettl21e	UTSW	1	44,245,526 (GRCm39)	missense	probably benign	0.00
R7282:Mettl21e	UTSW	1	44,249,399 (GRCm39)	missense	probably damaging	0.98
R7870:Mettl21e	UTSW	1	44,249,371 (GRCm39)	missense	probably damaging	1.00
R8054:Mettl21e	UTSW	1	44,245,815 (GRCm39)	missense	probably damaging	1.00
R8492:Mettl21e	UTSW	1	44,245,553 (GRCm39)	missense	probably damaging	1.00
R9481:Mettl21e	UTSW	1	44,245,857 (GRCm39)	missense	probably benign	0.01
R9507:Mettl21e	UTSW	1	44,245,536 (GRCm39)	missense	probably benign	0.05
R9641:Mettl21e	UTSW	1	44,250,351 (GRCm39)	missense	probably benign	0.01
Z1177:Mettl21e	UTSW	1	44,245,710 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07