Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02500:Mettl21a'

295990

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mettl21a

Ensembl Gene

ENSMUSG00000025956

Gene Name

methyltransferase 21A, HSPA lysine

Synonyms

2310038H17Rik, Fam119a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

64645632-64656401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64647213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 115 (Q115K)

Ref Sequence

ENSEMBL: ENSMUSP00000109713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053469] [ENSMUST00000087366] [ENSMUST00000114079]

AlphaFold

Q9CQL0

Predicted Effect

probably benign
Transcript: ENSMUST00000053469
AA Change: Q115K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050424
Gene: ENSMUSG00000025956
AA Change: Q115K

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	25	190	1.8e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087366

SMART Domains

Protein: ENSMUSP00000084624
Gene: ENSMUSG00000025958

Domain	Start	End	E-Value	Type
internal_repeat_1	16	90	1.46e-5	PROSPERO
Pfam:pKID	99	141	5.3e-24	PFAM
low complexity region	148	160	N/A	INTRINSIC
internal_repeat_1	170	247	1.46e-5	PROSPERO
BRLZ	267	325	1.25e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114079
AA Change: Q115K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109713
Gene: ENSMUSG00000025956
AA Change: Q115K

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	25	190	1e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162806

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,856,338 (GRCm39)	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,228,215 (GRCm39)	L674*	probably null	Het
Arhgef10	G	A	8: 15,011,238 (GRCm39)	E265K	probably damaging	Het
Ccn1	T	C	3: 145,354,455 (GRCm39)	K152R	probably damaging	Het
Cd53	A	G	3: 106,676,142 (GRCm39)	I75T	probably damaging	Het
Col26a1	A	T	5: 136,783,193 (GRCm39)	L235*	probably null	Het
Crem	G	T	18: 3,273,477 (GRCm39)	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,358,887 (GRCm39)	D344G	probably damaging	Het
Dchs1	T	C	7: 105,405,013 (GRCm39)	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,965,456 (GRCm39)	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,224,235 (GRCm39)	H1262R	probably benign	Het
Exoc2	G	T	13: 31,095,179 (GRCm39)	T239K	probably damaging	Het
Fzd6	A	T	15: 38,894,781 (GRCm39)	S316C	probably damaging	Het
Htra1	A	G	7: 130,586,704 (GRCm39)	K429R	probably benign	Het
Il1rapl2	C	T	X: 137,747,252 (GRCm39)	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,568,419 (GRCm39)		probably benign	Het
Kiz	G	A	2: 146,705,733 (GRCm39)	V98I	probably benign	Het
Klk1b24	A	T	7: 43,837,748 (GRCm39)		probably benign	Het
Lrrc30	T	A	17: 67,938,857 (GRCm39)	N241I	probably damaging	Het
Map2k4	A	G	11: 65,587,136 (GRCm39)	V288A	probably damaging	Het
Mefv	T	C	16: 3,531,441 (GRCm39)	H459R	probably damaging	Het
Msra	A	G	14: 64,522,637 (GRCm39)		probably benign	Het
Myh8	G	A	11: 67,196,536 (GRCm39)	R1752H	probably benign	Het
Nrp1	T	C	8: 129,152,280 (GRCm39)	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,042,646 (GRCm39)	Y60F	probably damaging	Het
Pax6	G	T	2: 105,523,115 (GRCm39)	R317L	probably benign	Het
Pcdh17	A	G	14: 84,770,909 (GRCm39)	E1129G	probably benign	Het
Phlpp2	C	T	8: 110,640,250 (GRCm39)	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prkce	A	G	17: 86,476,342 (GRCm39)	N108D	probably benign	Het
Prkdc	T	G	16: 15,532,146 (GRCm39)		probably null	Het
Ptprm	T	C	17: 67,227,043 (GRCm39)	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 179,921,122 (GRCm39)	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,693,323 (GRCm39)	L33F	probably benign	Het
Slc16a7	T	A	10: 125,066,802 (GRCm39)	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,696,142 (GRCm39)	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sspo	C	A	6: 48,455,313 (GRCm39)	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,815,182 (GRCm39)		probably null	Het
Txnrd1	T	G	10: 82,715,051 (GRCm39)	W98G	probably damaging	Het
Ulk1	A	T	5: 110,957,000 (GRCm39)	I66N	probably damaging	Het
Ush2a	A	G	1: 188,554,893 (GRCm39)	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,077,650 (GRCm39)	H172L	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp592	T	A	7: 80,691,474 (GRCm39)	C1218S	probably benign	Het

Other mutations in Mettl21a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2219:Mettl21a	UTSW	1	64,655,442 (GRCm39)	missense	probably damaging	1.00
R2220:Mettl21a	UTSW	1	64,655,442 (GRCm39)	missense	probably damaging	1.00
R3902:Mettl21a	UTSW	1	64,647,240 (GRCm39)	missense	probably benign	0.03
R4224:Mettl21a	UTSW	1	64,647,115 (GRCm39)	nonsense	probably null
R5715:Mettl21a	UTSW	1	64,654,314 (GRCm39)	missense	probably benign	0.00
R7611:Mettl21a	UTSW	1	64,654,266 (GRCm39)	missense	probably benign	0.05
R7734:Mettl21a	UTSW	1	64,647,288 (GRCm39)	missense	probably damaging	1.00
R7886:Mettl21a	UTSW	1	64,654,343 (GRCm39)	missense	probably damaging	1.00
R9476:Mettl21a	UTSW	1	64,647,285 (GRCm39)	missense	probably damaging	1.00
R9510:Mettl21a	UTSW	1	64,647,285 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16