Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Etfbkmt'

204024

Institutional Source

Beutler Lab

Gene Symbol

Etfbkmt

Ensembl Gene

ENSMUSG00000039958

Gene Name

electron transfer flavoprotein beta subunit lysine methyltransferase

Synonyms

4833442J19Rik, Mettl20

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149042980-149052669 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 149045649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000107173 (fasta)

Gene Model

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

AlphaFold

Q80ZM3

Predicted Effect

probably null
Transcript: ENSMUST00000047531
AA Change: M1K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042102
Gene: ENSMUSG00000039958
AA Change: M1K

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 null
Transcript: ENSMUST00000111547
AA Change: M1K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably null
Transcript: ENSMUST00000111548
AA Change: M1K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably null
Transcript: ENSMUST00000111551
AA Change: M1K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107176
Gene: ENSMUSG00000039958
AA Change: M1K

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 null
Transcript: ENSMUST00000126406
AA Change: M1K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably null
Transcript: ENSMUST00000134306
AA Change: M1K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118701
Gene: ENSMUSG00000039958
AA Change: M1K

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 null
Transcript: ENSMUST00000166416
AA Change: M1K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126521
Gene: ENSMUSG00000039958
AA Change: M1K

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 null
Transcript: ENSMUST00000179873
AA Change: M1K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136167
Gene: ENSMUSG00000039958
AA Change: M1K

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: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Adam30	A	T	3: 98,069,429 (GRCm39)	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,726,834 (GRCm39)		probably null	Het
Cacna1a	A	T	8: 85,142,559 (GRCm39)	I96F	possibly damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,917,026 (GRCm39)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,734,902 (GRCm39)	Y685H	probably damaging	Het
Cibar1	C	T	4: 12,155,717 (GRCm39)	V306I	possibly damaging	Het
Cmklr1	T	C	5: 113,752,468 (GRCm39)	T178A	probably damaging	Het
Col16a1	G	A	4: 129,986,575 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,276,439 (GRCm39)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm39)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,254,911 (GRCm39)	H148R	probably damaging	Het
Crygd	T	C	1: 65,101,133 (GRCm39)	Y154C	probably benign	Het
Cubn	T	C	2: 13,313,372 (GRCm39)	Y3066C	probably damaging	Het
Defb15	C	T	8: 22,420,002 (GRCm39)	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,418,553 (GRCm39)	D147G	probably benign	Het
Dnah12	A	T	14: 26,430,412 (GRCm39)	Y340F	probably benign	Het
Dot1l	G	T	10: 80,619,373 (GRCm39)	R193L	probably damaging	Het
Dusp29	A	G	14: 21,736,757 (GRCm39)	V115A	probably benign	Het
Esd	A	C	14: 74,979,514 (GRCm39)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Exph5	A	G	9: 53,287,548 (GRCm39)	H1543R	probably benign	Het
Fbxo16	A	G	14: 65,508,252 (GRCm39)	T23A	probably damaging	Het
Gorasp2	C	A	2: 70,509,808 (GRCm39)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,439,853 (GRCm39)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,419,958 (GRCm39)	D592G	probably benign	Het
Inmt	G	A	6: 55,151,868 (GRCm39)	A34V	probably damaging	Het
Ints9	A	C	14: 65,263,862 (GRCm39)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,618,098 (GRCm39)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,353,068 (GRCm39)	V259D	probably damaging	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrba	T	C	3: 86,680,510 (GRCm39)		probably null	Het
Mapk1	T	A	16: 16,844,293 (GRCm39)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,387,706 (GRCm39)	P554L	probably damaging	Het
Mki67	T	C	7: 135,301,090 (GRCm39)	T1315A	probably benign	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,113,726 (GRCm39)	I688F	probably benign	Het
Myo1d	A	T	11: 80,553,874 (GRCm39)	Y536N	probably damaging	Het
Neb	C	T	2: 52,052,199 (GRCm39)		probably null	Het
Noc2l	A	G	4: 156,322,165 (GRCm39)	R161G	probably benign	Het
Nup54	T	A	5: 92,567,426 (GRCm39)	I375L	possibly damaging	Het
Nup93	T	C	8: 95,032,730 (GRCm39)	F539L	probably damaging	Het
Or10x1	T	A	1: 174,197,018 (GRCm39)	H178Q	probably damaging	Het
Or2n1e	A	G	17: 38,586,235 (GRCm39)	E191G	probably damaging	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or8b12	T	A	9: 37,658,264 (GRCm39)	M278K	probably benign	Het
Panx1	A	T	9: 14,918,724 (GRCm39)	D378E	probably damaging	Het
Papss1	T	A	3: 131,288,945 (GRCm39)	V170D	possibly damaging	Het
Pcnx1	T	C	12: 81,965,506 (GRCm39)	S558P	probably damaging	Het
Pde3a	G	T	6: 141,433,239 (GRCm39)	A757S	probably damaging	Het
Pde3a	T	A	6: 141,196,079 (GRCm39)	I255N	probably damaging	Het
Pdzph1	A	G	17: 59,229,578 (GRCm39)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Polr1a	G	A	6: 71,886,187 (GRCm39)	G14D	probably damaging	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Ptgr3	T	C	18: 84,113,443 (GRCm39)	V373A	possibly damaging	Het
Ptprc	T	C	1: 138,039,965 (GRCm39)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,733,035 (GRCm39)	R205K	probably benign	Het
Rcan2	A	T	17: 44,347,980 (GRCm39)		probably null	Het
Rock1	A	G	18: 10,079,207 (GRCm39)	I1087T	probably damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Septin4	A	G	11: 87,458,061 (GRCm39)	H145R	possibly damaging	Het
Setd1b	T	C	5: 123,285,676 (GRCm39)	S241P	unknown	Het
Slco1a8	T	C	6: 141,949,149 (GRCm39)	M76V	possibly damaging	Het
Srpk2	T	C	5: 23,729,148 (GRCm39)	K497R	probably benign	Het
Sspo	T	C	6: 48,467,940 (GRCm39)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tank	T	C	2: 61,480,256 (GRCm39)	F264S	probably damaging	Het
Ticrr	T	C	7: 79,344,955 (GRCm39)	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,060,405 (GRCm39)	V457A	probably damaging	Het
Trim43b	T	A	9: 88,967,624 (GRCm39)	K336N	probably damaging	Het
Trim47	T	C	11: 115,996,963 (GRCm39)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,022 (GRCm39)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm39)	S231P	probably benign	Het
Vit	A	G	17: 78,930,175 (GRCm39)	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 9,907,333 (GRCm39)	C131Y	possibly damaging	Het
Zfp58	A	T	13: 67,639,307 (GRCm39)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,544,435 (GRCm39)	G491C	probably damaging	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
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
R9561:Etfbkmt	UTSW	6	149,045,640 (GRCm39)	start gained	probably benign
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'- AGGATATGGACATGTTGGCTAGAC -3'
(R):5'- AGTAGGGATCACTGTAGGGC -3'

Sequencing Primer
(F):5'- TGTTGGCTAGACTAAGAAATTTCAG -3'
(R):5'- AAGCCGTAACTGGATTTCCG -3'

Posted On

2014-06-23