Mutagenetix > Incidental Mutation

Incidental Mutation 'R4111:Etfrf1'

317304

Institutional Source

Beutler Lab

Gene Symbol

Etfrf1

Ensembl Gene

ENSMUSG00000040370

Gene Name

electron transfer flavoprotein regulatory factor 1

Synonyms

Lyrm5, Ghiso, 4930469P12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R4111 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145156860-145162665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145161098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 23 (Y23H)

Ref Sequence

ENSEMBL: ENSMUSP00000107355 (fasta)

Gene Model

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

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: Y23H

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

SMART Domains

Protein: ENSMUSP00000039433
Gene: ENSMUSG00000040370
AA Change: Y23H

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: Y23H

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

SMART Domains

Protein: ENSMUSP00000107348
Gene: ENSMUSG00000040370
AA Change: Y23H

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: Y23H

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

SMART Domains

Protein: ENSMUSP00000107350
Gene: ENSMUSG00000040370
AA Change: Y23H

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: Y23H

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

SMART Domains

Protein: ENSMUSP00000107352
Gene: ENSMUSG00000040370
AA Change: Y23H

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: Y23H

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

SMART Domains

Protein: ENSMUSP00000107353
Gene: ENSMUSG00000040370
AA Change: Y23H

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: Y23H

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

SMART Domains

Protein: ENSMUSP00000107354
Gene: ENSMUSG00000040370
AA Change: Y23H

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: ENSMUST00000111726
AA Change: Y23H

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

SMART Domains

Protein: ENSMUSP00000107355
Gene: ENSMUSG00000040370
AA Change: Y23H

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

noncoding transcript
Transcript: ENSMUST00000205162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133671

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

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

noncoding transcript
Transcript: ENSMUST00000126007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203558

Predicted Effect

probably benign
Transcript: ENSMUST00000156486

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

Meta Mutation Damage Score

0.6851

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Acot10	A	T	15: 20,666,612 (GRCm39)	L43Q	probably damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Ambra1	T	C	2: 91,730,903 (GRCm39)	S894P	probably damaging	Het
Arhgef12	C	A	9: 42,883,570 (GRCm39)	G1320C	probably damaging	Het
Atg7	G	C	6: 114,690,255 (GRCm39)	G596R	probably damaging	Het
Birc6	T	C	17: 74,873,010 (GRCm39)	V423A	probably damaging	Het
Bltp3a	T	A	17: 28,105,064 (GRCm39)	L586*	probably null	Het
Cdh17	T	C	4: 11,814,628 (GRCm39)	S728P	probably damaging	Het
Ctu2	G	A	8: 123,203,256 (GRCm39)	R24Q	possibly damaging	Het
Dclk3	T	C	9: 111,298,148 (GRCm39)	I564T	probably damaging	Het
Ddx39b	T	A	17: 35,462,340 (GRCm39)	I42N	possibly damaging	Het
Defa39	T	C	8: 22,192,679 (GRCm39)	T106A	possibly damaging	Het
Dip2c	G	T	13: 9,687,137 (GRCm39)	G1254C	probably damaging	Het
Dzip1	T	A	14: 119,114,645 (GRCm39)	K837*	probably null	Het
Epha1	G	A	6: 42,335,772 (GRCm39)	T955M	possibly damaging	Het
Etfbkmt	T	C	6: 149,046,089 (GRCm39)		probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gm5611	T	A	9: 16,941,989 (GRCm39)		noncoding transcript	Het
Gpr37l1	T	C	1: 135,095,008 (GRCm39)	T79A	possibly damaging	Het
Hrh3	C	A	2: 179,744,643 (GRCm39)	R99L	possibly damaging	Het
Hyls1	T	A	9: 35,472,714 (GRCm39)	Y234F	probably damaging	Het
Ifnar1	C	A	16: 91,293,046 (GRCm39)	P230T	probably damaging	Het
Impact	T	C	18: 13,109,090 (GRCm39)		probably null	Het
Kcna6	G	C	6: 126,716,737 (GRCm39)	R51G	probably damaging	Het
Lrpprc	G	A	17: 85,033,766 (GRCm39)	T1037M	probably benign	Het
Or10g9	C	A	9: 39,912,194 (GRCm39)	E110*	probably null	Het
Or4a2	C	A	2: 89,248,444 (GRCm39)	L104F	probably benign	Het
Or5an6	T	C	19: 12,371,665 (GRCm39)	F13L	probably damaging	Het
Or6n2	T	A	1: 173,896,999 (GRCm39)	I45N	probably damaging	Het
Pask	A	G	1: 93,238,540 (GRCm39)	V1315A	probably damaging	Het
Pramel16	T	A	4: 143,676,475 (GRCm39)	I210F	possibly damaging	Het
Prl7a2	A	T	13: 27,849,050 (GRCm39)	Y80N	possibly damaging	Het
Rhox3f	G	T	X: 36,763,672 (GRCm39)	E140*	probably null	Het
Rtn2	T	C	7: 19,020,769 (GRCm39)	S81P	probably damaging	Het
Sbf2	G	A	7: 110,027,449 (GRCm39)	P470S	probably damaging	Het
Sec31b	G	T	19: 44,512,968 (GRCm39)	T507N	possibly damaging	Het
Sox30	A	G	11: 45,908,041 (GRCm39)	Y736C	probably benign	Het
Srsf3-ps	A	T	11: 98,516,223 (GRCm39)	V50D	probably damaging	Het
Synj2	G	A	17: 6,058,240 (GRCm39)	G243S	probably benign	Het
Tbr1	C	T	2: 61,642,076 (GRCm39)	P184L	probably benign	Het
Tns1	T	C	1: 73,981,091 (GRCm39)	N1091S	probably damaging	Het
Trappc10	A	G	10: 78,032,264 (GRCm39)	F1008S	probably benign	Het
Ube4a	T	A	9: 44,860,247 (GRCm39)	I272F	probably damaging	Het
Vmn1r122	A	T	7: 20,867,438 (GRCm39)	S206T	probably damaging	Het
Vmn2r1	A	C	3: 63,997,176 (GRCm39)	K277N	probably benign	Het
Vps13a	T	C	19: 16,617,992 (GRCm39)	E2931G	probably damaging	Het
Wdr70	G	T	15: 8,006,472 (GRCm39)	Q360K	probably benign	Het
Wdr90	G	T	17: 26,068,342 (GRCm39)	Q1329K	possibly damaging	Het
Wrn	T	C	8: 33,842,183 (GRCm39)	N37S	probably benign	Het
Yap1	A	T	9: 7,938,432 (GRCm39)	*358K	probably null	Het
Zfp964	T	A	8: 70,116,754 (GRCm39)	S450R	probably benign	Het
Zkscan2	T	C	7: 123,081,907 (GRCm39)		probably benign	Het
Zmynd10	A	T	9: 107,426,251 (GRCm39)	K133*	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
R4112:Etfrf1	UTSW	6	145,161,098 (GRCm39)	missense	probably damaging	1.00
R9062:Etfrf1	UTSW	6	145,161,153 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCATGGGAAGATCTCTGGTTC -3'
(R):5'- CTGGTGCAATGATTGGTCAGAC -3'

Sequencing Primer
(F):5'- CATGGGAAGATCTCTGGTTCTTTAAG -3'
(R):5'- CAATGATTGGTCAGACTTTGGTATC -3'

Posted On

2015-05-15