Mutagenetix > Incidental Mutation

Incidental Mutation 'R8469:Methig1'

656968

Institutional Source

Beutler Lab

Gene Symbol

Methig1

Ensembl Gene

ENSMUSG00000093789

Gene Name

methyltransferase hypoxia inducible domain containing 1

Synonyms

Mettl7a2-Higd1c, UbiE-YGHL1, Mettl7a2Higd1c, UbiE2-Hig1-4, AB099516

MMRRC Submission

067913-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R8469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100251081-100282316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100251130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 14 (I14V)

Ref Sequence

ENSEMBL: ENSMUSP00000075098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075675] [ENSMUST00000088142] [ENSMUST00000175929] [ENSMUST00000176287]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075675
AA Change: I14V

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075098
Gene: ENSMUSG00000093789
AA Change: I14V

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:Ubie_methyltran	45	175	3.6e-7	PFAM
Pfam:Methyltransf_23	48	168	2.4e-14	PFAM
Pfam:Methyltransf_31	68	188	3e-12	PFAM
Pfam:Methyltransf_25	74	167	7.5e-11	PFAM
Pfam:Methyltransf_12	75	167	6.2e-14	PFAM
Pfam:Methyltransf_11	75	168	7e-20	PFAM
Pfam:HIG_1_N	192	244	1.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088142
AA Change: I14V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085467
Gene: ENSMUSG00000056487
AA Change: I14V

Domain	Start	End	E-Value	Type
Pfam:Ubie_methyltran	45	198	4.5e-11	PFAM
Pfam:Methyltransf_23	49	222	2.7e-19	PFAM
Pfam:Methyltransf_31	68	225	5.1e-16	PFAM
Pfam:Methyltransf_18	70	175	8e-11	PFAM
Pfam:Methyltransf_25	74	168	4e-12	PFAM
Pfam:Methyltransf_12	75	170	8.6e-16	PFAM
Pfam:Methyltransf_11	75	172	1.1e-23	PFAM
Pfam:Methyltransf_8	117	240	5.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175929
AA Change: I14V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135002
Gene: ENSMUSG00000093789
AA Change: I14V

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:Ubie_methyltran	44	178	7e-8	PFAM
Pfam:Methyltransf_23	48	177	8.6e-15	PFAM
Pfam:Methyltransf_31	68	177	1.9e-12	PFAM
Pfam:Methyltransf_18	70	173	5e-9	PFAM
Pfam:Methyltransf_25	74	167	4.5e-11	PFAM
Pfam:Methyltransf_11	75	167	6e-21	PFAM
Pfam:Methyltransf_12	75	167	4.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176287
AA Change: I14V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135213
Gene: ENSMUSG00000056487
AA Change: I14V

Domain	Start	End	E-Value	Type
Pfam:Ubie_methyltran	45	197	3.3e-8	PFAM
Pfam:Methyltransf_23	49	222	2e-16	PFAM
Pfam:Methyltransf_31	68	225	9.8e-14	PFAM
Pfam:Methyltransf_18	70	175	3.1e-9	PFAM
Pfam:Methyltransf_25	74	167	1.1e-10	PFAM
Pfam:Methyltransf_12	75	167	1.1e-13	PFAM
Pfam:Methyltransf_11	75	172	1e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,797 (GRCm39)	F113S	probably damaging	Het
Abcd4	A	G	12: 84,659,190 (GRCm39)	Y189H	probably damaging	Het
Actn1	T	C	12: 80,240,457 (GRCm39)	D210G	possibly damaging	Het
Adam28	C	T	14: 68,844,029 (GRCm39)	V774I	probably benign	Het
Anapc1	A	T	2: 128,500,264 (GRCm39)		probably null	Het
Atg2b	A	T	12: 105,604,170 (GRCm39)	I1577N	probably benign	Het
Bod1l	A	G	5: 41,978,834 (GRCm39)	S827P	possibly damaging	Het
Carmil1	A	T	13: 24,296,011 (GRCm39)	C377S	probably damaging	Het
Cplx4	T	C	18: 66,090,083 (GRCm39)	E112G	possibly damaging	Het
Cyp4f39	C	A	17: 32,711,340 (GRCm39)	R496S	probably damaging	Het
Dmgdh	G	A	13: 93,843,175 (GRCm39)	R337Q	probably damaging	Het
Dnah10	T	C	5: 124,813,895 (GRCm39)	F345S	probably damaging	Het
Dst	A	G	1: 34,268,109 (GRCm39)	R2844G	probably damaging	Het
Fam186a	T	A	15: 99,845,186 (GRCm39)	I353L	unknown	Het
Fam78a	A	G	2: 31,959,345 (GRCm39)	V255A	possibly damaging	Het
Ino80	T	A	2: 119,210,074 (GRCm39)	I1406L	probably benign	Het
Itga11	T	C	9: 62,678,680 (GRCm39)	F949S	probably benign	Het
Jmjd7	G	A	2: 119,860,643 (GRCm39)	A57T	possibly damaging	Het
Krt1c	T	C	15: 101,724,804 (GRCm39)	T269A	probably benign	Het
Lgi4	A	T	7: 30,767,065 (GRCm39)	D364V	probably damaging	Het
Lrp12	T	C	15: 39,735,791 (GRCm39)	T733A	probably damaging	Het
Marchf7	T	A	2: 60,064,670 (GRCm39)	N315K	probably benign	Het
Mtmr3	A	T	11: 4,481,223 (GRCm39)	M1K	probably null	Het
Nras	A	G	3: 102,966,217 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,425,366 (GRCm39)	T1508A	possibly damaging	Het
Obscn	T	C	11: 59,019,063 (GRCm39)	T917A	probably damaging	Het
Pard6g	T	C	18: 80,090,347 (GRCm39)	V21A	possibly damaging	Het
Pcdha5	T	A	18: 37,094,798 (GRCm39)	W436R	probably benign	Het
Pde4d	T	C	13: 108,996,722 (GRCm39)	V8A	probably benign	Het
Pou4f3	C	T	18: 42,528,339 (GRCm39)	T94M	probably benign	Het
Prdm6	G	T	18: 53,597,758 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,786,198 (GRCm39)	R674G	probably damaging	Het
Rcc1	A	G	4: 132,061,445 (GRCm39)	S368P	probably damaging	Het
Rcn2	T	A	9: 55,952,485 (GRCm39)	V110E	probably benign	Het
Reep4	T	A	14: 70,783,180 (GRCm39)		probably null	Het
Rrbp1	T	C	2: 143,831,661 (GRCm39)	I169V	probably damaging	Het
Slc2a6	T	C	2: 26,914,347 (GRCm39)	S257G	probably benign	Het
Spag9	A	G	11: 93,982,627 (GRCm39)	R612G	probably damaging	Het
Ssh2	A	G	11: 77,340,434 (GRCm39)	T529A	probably benign	Het
Triobp	A	G	15: 78,851,219 (GRCm39)	S458G	probably benign	Het
Zfp729a	G	T	13: 67,769,481 (GRCm39)	H249Q	probably damaging	Het
Zfp940	A	G	7: 29,544,572 (GRCm39)	I445T	possibly damaging	Het

Other mutations in Methig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0479:Methig1	UTSW	15	100,272,825 (GRCm39)	nonsense	probably null
R0729:Methig1	UTSW	15	100,272,870 (GRCm39)	missense	probably benign	0.13
R1727:Methig1	UTSW	15	100,251,130 (GRCm39)	missense	probably benign	0.38
R2037:Methig1	UTSW	15	100,251,467 (GRCm39)	missense	probably benign	0.02
R2281:Methig1	UTSW	15	100,251,241 (GRCm39)	missense	possibly damaging	0.86
R2443:Methig1	UTSW	15	100,251,092 (GRCm39)	start codon destroyed	probably null	1.00
R4820:Methig1	UTSW	15	100,251,416 (GRCm39)	missense	possibly damaging	0.71
R5085:Methig1	UTSW	15	100,251,130 (GRCm39)	missense	probably damaging	0.98
R5408:Methig1	UTSW	15	100,281,635 (GRCm39)	missense	possibly damaging	0.91
R6258:Methig1	UTSW	15	100,251,422 (GRCm39)	missense	possibly damaging	0.77
R7750:Methig1	UTSW	15	100,251,412 (GRCm39)	missense	probably benign	0.01
R7921:Methig1	UTSW	15	100,251,251 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCTTTCTTTGCCAGGGG -3'
(R):5'- CCTCCAGCAGAGTTAGCTTC -3'

Sequencing Primer
(F):5'- TGGGAGTCAGGGCATTACC -3'
(R):5'- AGCAGAGTTAGCTTCCCCGAG -3'

Posted On

2021-01-18