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 like 21A

Synonyms

2310038H17Rik, Fam119a

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

64606473-64617242 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64608054 bp (GRCm38)

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: 118,618,926	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,337,389	L674*	probably null	Het
Arhgef10	G	A	8: 14,961,238	E265K	probably damaging	Het
Cd53	A	G	3: 106,768,826	I75T	probably damaging	Het
Col26a1	A	T	5: 136,754,339	L235*	probably null	Het
Crem	G	T	18: 3,273,477	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,470,650	D344G	probably damaging	Het
Cyr61	T	C	3: 145,648,700	K152R	probably damaging	Het
Dchs1	T	C	7: 105,755,806	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,988,088	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,315,800	H1262R	probably benign	Het
Exoc2	G	T	13: 30,911,196	T239K	probably damaging	Het
Fzd6	A	T	15: 39,031,386	S316C	probably damaging	Het
Htra1	A	G	7: 130,984,974	K429R	probably benign	Het
Il1rapl2	C	T	X: 138,846,503	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,661,112		probably benign	Het
Kiz	G	A	2: 146,863,813	V98I	probably benign	Het
Klk1b24	A	T	7: 44,188,324		probably benign	Het
Lrrc30	T	A	17: 67,631,862	N241I	probably damaging	Het
Map2k4	A	G	11: 65,696,310	V288A	probably damaging	Het
Mefv	T	C	16: 3,713,577	H459R	probably damaging	Het
Msra	A	G	14: 64,285,188		probably benign	Het
Myh8	G	A	11: 67,305,710	R1752H	probably benign	Het
Nrp1	T	C	8: 128,425,799	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,135,330	Y60F	probably damaging	Het
Pax6	G	T	2: 105,692,770	R317L	probably benign	Het
Pcdh17	A	G	14: 84,533,469	E1129G	probably benign	Het
Phlpp2	C	T	8: 109,913,618	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prkce	A	G	17: 86,168,914	N108D	probably benign	Het
Prkdc	T	G	16: 15,714,282		probably null	Het
Ptprm	T	C	17: 66,920,048	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 180,279,329	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,872,960	L33F	probably benign	Het
Slc16a7	T	A	10: 125,230,933	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,388,713	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sspo	C	A	6: 48,478,379	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,667,323		probably null	Het
Txnrd1	T	G	10: 82,879,217	W98G	probably damaging	Het
Ulk1	A	T	5: 110,809,134	I66N	probably damaging	Het
Ush2a	A	G	1: 188,822,696	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,428,226	H172L	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	A	7: 81,041,726	C1218S	probably benign	Het

Other mutations in Mettl21a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2219:Mettl21a	UTSW	1	64616283	missense	probably damaging	1.00
R2220:Mettl21a	UTSW	1	64616283	missense	probably damaging	1.00
R3902:Mettl21a	UTSW	1	64608081	missense	probably benign	0.03
R4224:Mettl21a	UTSW	1	64607956	nonsense	probably null
R5715:Mettl21a	UTSW	1	64615155	missense	probably benign	0.00
R7611:Mettl21a	UTSW	1	64615107	missense	probably benign	0.05
R7734:Mettl21a	UTSW	1	64608129	missense	probably damaging	1.00
R7886:Mettl21a	UTSW	1	64615184	missense	probably damaging	1.00
R9476:Mettl21a	UTSW	1	64608126	missense	probably damaging	1.00
R9510:Mettl21a	UTSW	1	64608126	missense	probably damaging	1.00

Posted On

2015-04-16