Mutagenetix > Incidental Mutation

Incidental Mutation 'R9062:Etfrf1'

689032

Institutional Source

Beutler Lab

Gene Symbol

Etfrf1

Ensembl Gene

ENSMUSG00000040370

Gene Name

electron transfer flavoprotein regulatory factor 1

Synonyms

Lyrm5, Ghiso, 4930469P12Rik

MMRRC Submission

068888-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R9062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145156860-145162665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 145161153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 41 (N41I)

Ref Sequence

ENSEMBL: ENSMUSP00000039433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032399] [ENSMUST00000039729] [ENSMUST00000060797] [ENSMUST00000111710] [ENSMUST00000111719] [ENSMUST00000111721] [ENSMUST00000111723] [ENSMUST00000111724] [ENSMUST00000111725] [ENSMUST00000111726] [ENSMUST00000111728] [ENSMUST00000156486] [ENSMUST00000203147] [ENSMUST00000204105]

AlphaFold

Q91V16

Predicted Effect

probably benign
Transcript: ENSMUST00000032399

SMART Domains

Protein: ENSMUSP00000032399
Gene: ENSMUSG00000030265

Domain	Start	End	E-Value	Type
RAS	1	166	1.14e-123	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000039729
AA Change: N41I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039433
Gene: ENSMUSG00000040370
AA Change: N41I

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	63	2.6e-15	PFAM
Pfam:Complex1_LYR_1	7	74	3.6e-14	PFAM
Pfam:Complex1_LYR_2	9	85	8.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060797

SMART Domains

Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
Pfam:Casc1_N	29	229	5.5e-61	PFAM
Pfam:Casc1	241	469	3.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111710

SMART Domains

Protein: ENSMUSP00000107339
Gene: ENSMUSG00000030265

Domain	Start	End	E-Value	Type
RAS	1	166	3.7e-123	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111719
AA Change: N41I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107348
Gene: ENSMUSG00000040370
AA Change: N41I

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	63	2.6e-15	PFAM
Pfam:Complex1_LYR_1	7	74	3.6e-14	PFAM
Pfam:Complex1_LYR_2	9	85	8.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111721
AA Change: N41I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107350
Gene: ENSMUSG00000040370
AA Change: N41I

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	63	5.5e-15	PFAM
Pfam:Complex1_LYR_1	7	67	5.5e-15	PFAM
Pfam:Complex1_LYR_2	9	85	9.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111723
AA Change: N41I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107352
Gene: ENSMUSG00000040370
AA Change: N41I

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	63	2.6e-15	PFAM
Pfam:Complex1_LYR_1	7	74	3.6e-14	PFAM
Pfam:Complex1_LYR_2	9	85	8.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111724
AA Change: N41I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107353
Gene: ENSMUSG00000040370
AA Change: N41I

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	63	2.6e-15	PFAM
Pfam:Complex1_LYR_1	7	74	3.6e-14	PFAM
Pfam:Complex1_LYR_2	9	85	8.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111725
AA Change: N41I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107354
Gene: ENSMUSG00000040370
AA Change: N41I

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	63	2.6e-15	PFAM
Pfam:Complex1_LYR_1	7	74	3.6e-14	PFAM
Pfam:Complex1_LYR_2	9	85	8.2e-9	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000107355
Gene: ENSMUSG00000040370
AA Change: N41I

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	63	2.6e-15	PFAM
Pfam:Complex1_LYR_1	7	74	3.6e-14	PFAM
Pfam:Complex1_LYR_2	9	85	8.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111728

SMART Domains

Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541

Domain	Start	End	E-Value	Type
coiled coil region	1	45	N/A	INTRINSIC
Pfam:Casc1	228	456	6.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156486

Predicted Effect

probably benign
Transcript: ENSMUST00000203147

SMART Domains

Protein: ENSMUSP00000145294
Gene: ENSMUSG00000030265

Domain	Start	End	E-Value	Type
small_GTPase	1	53	3.1e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204105

SMART Domains

Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
Pfam:Casc1_N	29	229	3.4e-57	PFAM
Pfam:Casc1	241	469	2.3e-11	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	A	G	2: 91,740,662 (GRCm39)	E1047G	possibly damaging	Het
Ankfn1	T	G	11: 89,325,583 (GRCm39)	I530L	probably benign	Het
Apob	A	T	12: 8,058,046 (GRCm39)	Y2176F	possibly damaging	Het
Atp5f1a	C	T	18: 77,866,459 (GRCm39)	R171*	probably null	Het
Atxn10	T	C	15: 85,275,918 (GRCm39)	V325A	probably benign	Het
B3galt1	T	C	2: 67,948,890 (GRCm39)	Y202H		Het
Calhm1	A	T	19: 47,129,828 (GRCm39)	D231E	possibly damaging	Het
Cel	C	A	2: 28,451,214 (GRCm39)	V48F	probably benign	Het
Cep78	T	A	19: 15,956,318 (GRCm39)	Y207F	probably benign	Het
Cnst	T	C	1: 179,434,100 (GRCm39)		probably null	Het
Cpeb2	C	A	5: 43,391,171 (GRCm39)	N122K		Het
Cyth1	T	C	11: 118,023,142 (GRCm39)	Q432R	unknown	Het
Eif2ak1	T	C	5: 143,803,548 (GRCm39)		probably benign	Het
Eif6	T	C	2: 155,665,928 (GRCm39)	T76A	probably benign	Het
Etl4	T	G	2: 20,748,616 (GRCm39)	L318R	probably damaging	Het
Fam151a	G	T	4: 106,605,306 (GRCm39)	W556L	probably benign	Het
Gas2l1	A	G	11: 5,011,497 (GRCm39)	V444A	probably benign	Het
Gbp8	A	G	5: 105,179,124 (GRCm39)	I125T	possibly damaging	Het
Jrkl	A	G	9: 13,245,338 (GRCm39)	F108L	probably benign	Het
Kif13a	G	T	13: 46,941,536 (GRCm39)	D980E	possibly damaging	Het
Leng9	C	T	7: 4,151,666 (GRCm39)	A337T	probably damaging	Het
Lipo3	A	C	19: 33,757,714 (GRCm39)	C252G	probably damaging	Het
Lrp4	C	A	2: 91,303,925 (GRCm39)	D113E	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,527 (GRCm39)	Y265C	probably damaging	Het
Mios	A	T	6: 8,233,221 (GRCm39)	I790F	probably benign	Het
Mlf2	G	A	6: 124,911,334 (GRCm39)		silent	Het
Mycbp2	T	A	14: 103,479,796 (GRCm39)	Y1226F	probably benign	Het
Ncoa6	T	A	2: 155,263,348 (GRCm39)	Q362L	probably benign	Het
Notch3	T	C	17: 32,341,692 (GRCm39)	D2020G	possibly damaging	Het
Or4a73	T	C	2: 89,420,923 (GRCm39)	M179V	probably benign	Het
Or4c111	T	A	2: 88,843,548 (GRCm39)	T287S	probably damaging	Het
Or52z1	T	A	7: 103,437,155 (GRCm39)	I110L	probably benign	Het
Or8d1b	A	T	9: 38,887,421 (GRCm39)	I150F	probably benign	Het
Otop2	C	A	11: 115,214,465 (GRCm39)	A74E	probably benign	Het
Pgm1	T	C	4: 99,843,954 (GRCm39)	I579T	probably damaging	Het
Preb	A	G	5: 31,116,196 (GRCm39)	V137A	probably benign	Het
Psap	G	T	10: 60,131,738 (GRCm39)	V244L	possibly damaging	Het
Setbp1	A	G	18: 78,900,266 (GRCm39)	S1134P	probably benign	Het
Skp2	G	T	15: 9,113,821 (GRCm39)	P399Q	probably damaging	Het
Slc47a1	T	G	11: 61,253,924 (GRCm39)	I222L	probably benign	Het
Spata31h1	A	G	10: 82,126,945 (GRCm39)	W2022R	probably benign	Het
Spef2	A	G	15: 9,601,717 (GRCm39)	L1515S	unknown	Het
Sri	T	C	5: 8,106,625 (GRCm39)	Y13H	unknown	Het
Tcf25	T	C	8: 124,116,448 (GRCm39)	F248L		Het
Tdrd12	T	C	7: 35,179,694 (GRCm39)	T885A	unknown	Het
Ttn	T	C	2: 76,600,944 (GRCm39)	T18813A	probably damaging	Het
Usp42	A	G	5: 143,703,740 (GRCm39)	V441A	possibly damaging	Het
Vwa1	A	T	4: 155,854,820 (GRCm39)	S405T	probably benign	Het
Zbbx	A	T	3: 74,989,124 (GRCm39)	H326Q	possibly damaging	Het
Zfp64	T	C	2: 168,767,747 (GRCm39)	T622A	probably benign	Het
Zfp677	T	G	17: 21,612,815 (GRCm39)		probably null	Het

Other mutations in Etfrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0374:Etfrf1	UTSW	6	145,161,288 (GRCm39)	missense	probably benign
R4111:Etfrf1	UTSW	6	145,161,098 (GRCm39)	missense	probably damaging	1.00
R4112:Etfrf1	UTSW	6	145,161,098 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCCAATTCGTTACGAGG -3'
(R):5'- TTAATAGTTGGTACAGGCAAACAGC -3'

Sequencing Primer
(F):5'- TTCGTTACGAGGAGAAGTACTGACTC -3'
(R):5'- CTGGTGCAATGATTGGTC -3'

Posted On

2021-11-19