Mutagenetix > Incidental Mutation

Incidental Mutation 'R6804:Mettl21e'

533465

Institutional Source

Beutler Lab

Gene Symbol

Mettl21e

Ensembl Gene

ENSMUSG00000046828

Gene Name

methyltransferase like 21E

Synonyms

4832428D23Rik, LOC381340

MMRRC Submission

044917-MU

Accession Numbers

Essential gene?

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

Stock #

R6804 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44243230-44258121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44257295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 8 (I8F)

Ref Sequence

ENSEMBL: ENSMUSP00000056481 (fasta)

Gene Model

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

AlphaFold

Q8CDZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000054801
AA Change: I8F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000056481
Gene: ENSMUSG00000046828
AA Change: I8F

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	T	1: 58,343,757 (GRCm39)	Q480L	probably benign	Het
Arid4b	T	A	13: 14,303,792 (GRCm39)	D72E	probably benign	Het
Avil	C	T	10: 126,844,175 (GRCm39)	Q245*	probably null	Het
BC048679	T	C	7: 81,146,612 (GRCm39)	S2G	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1d	T	C	14: 29,773,622 (GRCm39)	T1723A	probably benign	Het
Cfap91	T	C	16: 38,152,604 (GRCm39)	D202G	probably damaging	Het
Chil3	A	T	3: 106,071,495 (GRCm39)	Y56*	probably null	Het
Clec2i	A	G	6: 128,872,384 (GRCm39)	E172G	probably damaging	Het
Crybg1	C	T	10: 43,842,337 (GRCm39)	D1785N	probably damaging	Het
Csmd1	G	A	8: 16,087,260 (GRCm39)	R1930W	probably damaging	Het
D430041D05Rik	A	C	2: 103,979,371 (GRCm39)	S2019A	possibly damaging	Het
Ep300	T	A	15: 81,525,512 (GRCm39)	Y1445*	probably null	Het
Gne	A	G	4: 44,060,210 (GRCm39)	I61T	probably damaging	Het
Ifit3b	A	T	19: 34,588,947 (GRCm39)	Q41L	possibly damaging	Het
Kplce	T	C	3: 92,776,354 (GRCm39)	T110A	possibly damaging	Het
Llgl2	A	G	11: 115,734,141 (GRCm39)		probably null	Het
Mast3	T	C	8: 71,239,376 (GRCm39)	I417V	probably benign	Het
Ms4a2	A	G	19: 11,594,899 (GRCm39)	Y183H	probably damaging	Het
Naip6	C	G	13: 100,435,675 (GRCm39)	E949D	probably benign	Het
Nbea	T	C	3: 55,994,874 (GRCm39)	T181A	probably benign	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Olfm3	A	T	3: 114,916,328 (GRCm39)	Y400F	probably benign	Het
Or12d2	A	G	17: 37,625,021 (GRCm39)	S85P	probably damaging	Het
Or1e33	A	G	11: 73,738,240 (GRCm39)	V237A	probably benign	Het
Or2a25	A	T	6: 42,888,852 (GRCm39)	T132S	probably benign	Het
Or2y1e	A	G	11: 49,218,808 (GRCm39)	D190G	probably benign	Het
Pappa2	T	C	1: 158,764,438 (GRCm39)	S358G	probably benign	Het
Pde4dip	C	A	3: 97,700,564 (GRCm39)	E259*	probably null	Het
Phlpp2	T	A	8: 110,655,197 (GRCm39)	L664Q	probably damaging	Het
Prpf8	A	G	11: 75,390,635 (GRCm39)	K1262R	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Saal1	GGCTTGCACGCCGT	G	7: 46,349,064 (GRCm39)		probably null	Het
Sec31a	C	T	5: 100,530,671 (GRCm39)	V701I	probably benign	Het
Smarca2	A	T	19: 26,729,286 (GRCm39)	R12S	possibly damaging	Het
Spocd1	T	A	4: 129,847,423 (GRCm39)	C537*	probably null	Het
Syt14	T	C	1: 192,584,161 (GRCm39)	E701G	probably damaging	Het
Taf3	T	C	2: 9,923,028 (GRCm39)	Y32C	possibly damaging	Het
Tfeb	T	C	17: 48,100,735 (GRCm39)		probably null	Het
Ttc13	C	A	8: 125,426,426 (GRCm39)	R168L	probably damaging	Het
Vmn2r11	T	A	5: 109,201,350 (GRCm39)	N385Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,792 (GRCm39)	K367R	probably benign	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
IGL01878:Mettl21e	APN	1	44,250,193 (GRCm39)	missense	probably null	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATTCATTGAGTTAGTAACCGCAAGC -3'
(R):5'- GAGCTTTCTGTAGACCTTTGCC -3'

Sequencing Primer
(F):5'- GAGTTAGTAACCGCAAGCAAAAATAC -3'
(R):5'- CTGGGTGCTGTGGACACATAAAG -3'

Posted On

2018-09-12