Mutagenetix > Incidental Mutation

Incidental Mutation 'R9561:Etfbkmt'

721004

Institutional Source

Beutler Lab

Gene Symbol

Etfbkmt

Ensembl Gene

ENSMUSG00000039958

Gene Name

electron transfer flavoprotein beta subunit lysine methyltransferase

Synonyms

4833442J19Rik, Mettl20

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149042980-149052669 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 149045640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047531] [ENSMUST00000111547] [ENSMUST00000111548] [ENSMUST00000111551] [ENSMUST00000126406] [ENSMUST00000134306] [ENSMUST00000147934] [ENSMUST00000166416] [ENSMUST00000179873]

AlphaFold

Q80ZM3

Predicted Effect

probably benign
Transcript: ENSMUST00000047531

SMART Domains

Protein: ENSMUSP00000042102
Gene: ENSMUSG00000039958

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	86	216	2.1e-10	PFAM
Pfam:MTS	91	189	1e-7	PFAM
Pfam:PrmA	94	180	1.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111547

Predicted Effect

probably benign
Transcript: ENSMUST00000111548

Predicted Effect

probably benign
Transcript: ENSMUST00000111551

SMART Domains

Protein: ENSMUSP00000107176
Gene: ENSMUSG00000039958

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	86	218	1.9e-10	PFAM
Pfam:MTS	91	187	1.1e-7	PFAM
Pfam:PrmA	94	180	1.5e-12	PFAM
Pfam:Methyltransf_26	109	214	4.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126406

Predicted Effect

probably benign
Transcript: ENSMUST00000134306

SMART Domains

Protein: ENSMUSP00000118701
Gene: ENSMUSG00000039958

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	85	158	1.3e-7	PFAM
Pfam:PrmA	94	159	2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147934

SMART Domains

Protein: ENSMUSP00000144830
Gene: ENSMUSG00000039958

Domain	Start	End	E-Value	Type
SCOP:d1f3la_	2	100	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166416

SMART Domains

Protein: ENSMUSP00000126521
Gene: ENSMUSG00000039958

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	85	159	1.3e-7	PFAM
Pfam:PrmA	94	164	1.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179873

SMART Domains

Protein: ENSMUSP00000136167
Gene: ENSMUSG00000039958

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	86	218	1.9e-10	PFAM
Pfam:MTS	91	187	1.1e-7	PFAM
Pfam:PrmA	94	180	1.5e-12	PFAM
Pfam:Methyltransf_26	109	214	4.6e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,680,980 (GRCm39)	I106V	possibly damaging	Het
Aars1	C	A	8: 111,763,615 (GRCm39)	F18L	probably damaging	Het
Abca7	C	T	10: 79,837,535 (GRCm39)	T473I	probably damaging	Het
Ap1m2	A	T	9: 21,209,524 (GRCm39)	I384N	probably damaging	Het
Atg16l2	G	A	7: 100,948,248 (GRCm39)	Q99*	probably null	Het
Bptf	A	T	11: 106,964,954 (GRCm39)	Y1413*	probably null	Het
Cat	T	C	2: 103,307,250 (GRCm39)	T28A	probably damaging	Het
Ccdc65	T	A	15: 98,620,759 (GRCm39)	V418D	probably benign	Het
Cd226	A	C	18: 89,265,444 (GRCm39)	I241L	probably benign	Het
Crybg1	A	G	10: 43,873,428 (GRCm39)	S1227P	probably benign	Het
Csn2	C	T	5: 87,842,794 (GRCm39)	A78T	probably benign	Het
Cyp21a1	T	A	17: 35,021,652 (GRCm39)	H305L	possibly damaging	Het
Ddx55	A	G	5: 124,706,707 (GRCm39)	E572G	possibly damaging	Het
Dguok	A	G	6: 83,467,548 (GRCm39)	Y100H	probably damaging	Het
Dync1h1	T	A	12: 110,615,533 (GRCm39)	S2955R	probably damaging	Het
Fam222a	T	A	5: 114,749,347 (GRCm39)	I181N	probably damaging	Het
Fam24b	T	C	7: 130,927,877 (GRCm39)	D104G	probably benign	Het
Fbn2	A	T	18: 58,181,611 (GRCm39)	C1883*	probably null	Het
Fchsd2	T	G	7: 100,920,778 (GRCm39)	L461R	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Hectd4	G	A	5: 121,472,532 (GRCm39)	R2756Q	possibly damaging	Het
Ints14	A	G	9: 64,882,932 (GRCm39)	D261G	probably damaging	Het
Mapkapk5	C	T	5: 121,672,490 (GRCm39)	A163T	probably benign	Het
Micu3	A	T	8: 40,835,156 (GRCm39)	K504*	probably null	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh7	C	A	14: 55,216,146 (GRCm39)	R1289L	probably damaging	Het
Neb	G	T	2: 52,132,068 (GRCm39)	H280Q		Het
Nrbp1	T	A	5: 31,404,771 (GRCm39)		probably null	Het
Oacyl	T	A	18: 65,831,414 (GRCm39)	V17D	possibly damaging	Het
Obsl1	C	A	1: 75,480,157 (GRCm39)	R463L	possibly damaging	Het
Or1f19	T	A	16: 3,410,725 (GRCm39)	L155Q	probably damaging	Het
Or8b40	G	A	9: 38,028,010 (GRCm39)	S311N	probably benign	Het
Pcnt	A	T	10: 76,217,128 (GRCm39)	C2184*	probably null	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phrf1	T	G	7: 140,834,815 (GRCm39)	S198A	unknown	Het
Plekhg2	C	G	7: 28,064,249 (GRCm39)	A431P	probably damaging	Het
Ppp1r13b	C	T	12: 111,810,077 (GRCm39)	D244N	probably damaging	Het
Raph1	T	C	1: 60,564,887 (GRCm39)	E200G	possibly damaging	Het
Rnf6	A	G	5: 146,147,936 (GRCm39)	S361P	probably benign	Het
Scgb2b19	G	A	7: 32,978,039 (GRCm39)	A86V	probably benign	Het
Sec23b	T	A	2: 144,408,728 (GRCm39)	C138S	possibly damaging	Het
Slco1c1	T	C	6: 141,505,606 (GRCm39)	S511P	possibly damaging	Het
Tas2r130	A	G	6: 131,607,175 (GRCm39)	S207P	probably damaging	Het
Tdpoz1	A	T	3: 93,578,540 (GRCm39)	H81Q	probably benign	Het
Usp8	A	G	2: 126,578,414 (GRCm39)	K289E	probably damaging	Het
Vmn1r18	A	C	6: 57,367,202 (GRCm39)	N117K	probably benign	Het
Vps13c	G	T	9: 67,872,794 (GRCm39)	G3270V	probably damaging	Het
Wdr20	A	G	12: 110,760,187 (GRCm39)	T358A	probably benign	Het
Wwc1	A	C	11: 35,870,796 (GRCm39)		probably null	Het
Yars2	G	T	16: 16,127,242 (GRCm39)	V436L	possibly damaging	Het
Zfp609	G	A	9: 65,604,512 (GRCm39)	Q1324*	probably null	Het
Zfp81	T	C	17: 33,553,774 (GRCm39)	T347A	probably benign	Het
Zgpat	T	C	2: 181,021,366 (GRCm39)	V292A	probably benign	Het

Other mutations in Etfbkmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02455:Etfbkmt	APN	6	149,048,724 (GRCm39)	missense	probably damaging	1.00
IGL03149:Etfbkmt	APN	6	149,045,781 (GRCm39)	missense	probably damaging	1.00
R0450:Etfbkmt	UTSW	6	149,052,082 (GRCm39)	missense	probably benign	0.02
R0510:Etfbkmt	UTSW	6	149,052,082 (GRCm39)	missense	probably benign	0.02
R1862:Etfbkmt	UTSW	6	149,045,649 (GRCm39)	start codon destroyed	probably null	0.95
R4111:Etfbkmt	UTSW	6	149,046,089 (GRCm39)	intron	probably benign
R4112:Etfbkmt	UTSW	6	149,046,089 (GRCm39)	intron	probably benign
R4786:Etfbkmt	UTSW	6	149,048,744 (GRCm39)	start codon destroyed	probably benign	0.01
R5053:Etfbkmt	UTSW	6	149,048,766 (GRCm39)	nonsense	probably null
R5304:Etfbkmt	UTSW	6	149,048,704 (GRCm39)	missense	probably damaging	1.00
R5780:Etfbkmt	UTSW	6	149,048,657 (GRCm39)	missense	probably damaging	1.00
R9217:Etfbkmt	UTSW	6	149,045,663 (GRCm39)	missense	probably benign	0.01
R9617:Etfbkmt	UTSW	6	149,045,744 (GRCm39)	missense	probably benign	0.02
Z1177:Etfbkmt	UTSW	6	149,045,835 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTTACTTCTGAGTTGTTAGTGC -3'
(R):5'- ACTGGATTTCCGGGGTAAGG -3'

Sequencing Primer
(F):5'- AGTGCATATTATTATGTGGCTAGC -3'
(R):5'- ATTTCCGGGGTAAGGCTACC -3'

Posted On

2022-08-09