Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01897:Mief1'

179448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mief1

Ensembl Gene

ENSMUSG00000022412

Gene Name

mitochondrial elongation factor 1

Synonyms

Smcr7l

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01897

Quality Score

Status

Chromosome

Chromosomal Location

80118284-80137572 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 80132709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023048] [ENSMUST00000166030] [ENSMUST00000228788] [ENSMUST00000229138]

AlphaFold

Q8BGV8

Predicted Effect

probably benign
Transcript: ENSMUST00000023048

SMART Domains

Protein: ENSMUSP00000023048
Gene: ENSMUSG00000022412

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Mab-21	189	455	7.09e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166030

SMART Domains

Protein: ENSMUSP00000129209
Gene: ENSMUSG00000022412

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Mab-21	189	455	7.09e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228965

Predicted Effect

probably benign
Transcript: ENSMUST00000229138

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	G	1: 125,346,025 (GRCm39)	Y21H	possibly damaging	Het
Adamts15	A	T	9: 30,813,448 (GRCm39)	S906T	probably damaging	Het
Brat1	A	G	5: 140,703,670 (GRCm39)	D641G	probably benign	Het
Ccdc42	G	A	11: 68,485,101 (GRCm39)	R205H	probably benign	Het
Cdadc1	T	C	14: 59,829,986 (GRCm39)		probably null	Het
Cfi	T	C	3: 129,652,034 (GRCm39)	V235A	probably damaging	Het
Ctps1	T	A	4: 120,424,476 (GRCm39)	D46V	probably damaging	Het
Cyb5d1	A	T	11: 69,284,587 (GRCm39)	D188E	probably benign	Het
Cyp19a1	G	T	9: 54,075,813 (GRCm39)	T414N	probably benign	Het
Cyp2c40	A	T	19: 39,792,217 (GRCm39)	C242*	probably null	Het
Eif3b	A	T	5: 140,411,202 (GRCm39)	T218S	possibly damaging	Het
Fasn	A	T	11: 120,698,765 (GRCm39)	L2475Q	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Heyl	A	T	4: 123,140,400 (GRCm39)	I320F	probably damaging	Het
Itpr3	T	A	17: 27,330,236 (GRCm39)	V1618E	probably damaging	Het
Kif7	A	T	7: 79,350,800 (GRCm39)	I1007N	probably damaging	Het
Lat2	A	G	5: 134,635,481 (GRCm39)		probably benign	Het
Lipm	A	T	19: 34,098,708 (GRCm39)	D394V	probably damaging	Het
Lmbrd1	T	A	1: 24,782,977 (GRCm39)	I307K	possibly damaging	Het
Mta2	C	T	19: 8,925,130 (GRCm39)	Q333*	probably null	Het
Neb	T	A	2: 52,170,587 (GRCm39)	E1695V	possibly damaging	Het
Npc1l1	A	T	11: 6,177,879 (GRCm39)	N510K	probably benign	Het
Or5af1	T	C	11: 58,722,465 (GRCm39)	F162L	probably damaging	Het
P2rx3	A	C	2: 84,853,825 (GRCm39)		probably benign	Het
Pdgfc	A	G	3: 81,111,639 (GRCm39)	E198G	possibly damaging	Het
Pkdcc	T	A	17: 83,527,548 (GRCm39)	I242N	probably damaging	Het
Pkn3	C	T	2: 29,972,824 (GRCm39)		probably benign	Het
Rcan2	T	G	17: 44,147,325 (GRCm39)	D54E	probably damaging	Het
Tmeff2	T	A	1: 51,171,369 (GRCm39)	Y202N	probably damaging	Het
Unc13c	A	G	9: 73,453,309 (GRCm39)	L1827P	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wfdc15a	G	T	2: 164,041,896 (GRCm39)	Q21K	probably benign	Het
Zfp951	C	A	5: 104,963,149 (GRCm39)	S139I	probably benign	Het

Other mutations in Mief1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1754:Mief1	UTSW	15	80,133,803 (GRCm39)	missense	probably damaging	0.97
R2010:Mief1	UTSW	15	80,132,126 (GRCm39)	missense	possibly damaging	0.95
R4379:Mief1	UTSW	15	80,132,160 (GRCm39)	missense	possibly damaging	0.86
R4609:Mief1	UTSW	15	80,132,454 (GRCm39)	missense	probably benign	0.12
R4789:Mief1	UTSW	15	80,132,080 (GRCm39)	nonsense	probably null
R5862:Mief1	UTSW	15	80,132,586 (GRCm39)	missense	probably benign	0.01
R6101:Mief1	UTSW	15	80,133,941 (GRCm39)	missense	probably benign	0.00
R6350:Mief1	UTSW	15	80,133,804 (GRCm39)	missense	probably damaging	1.00
R6605:Mief1	UTSW	15	80,132,692 (GRCm39)	nonsense	probably null
R6944:Mief1	UTSW	15	80,133,644 (GRCm39)	missense	probably damaging	1.00
R7197:Mief1	UTSW	15	80,134,061 (GRCm39)	missense	possibly damaging	0.94
R7316:Mief1	UTSW	15	80,133,598 (GRCm39)	missense	probably damaging	0.99
R7905:Mief1	UTSW	15	80,133,599 (GRCm39)	missense	probably damaging	1.00
R8494:Mief1	UTSW	15	80,133,593 (GRCm39)	missense	probably benign	0.00
R8717:Mief1	UTSW	15	80,132,584 (GRCm39)	missense	probably benign	0.04

Posted On

2014-05-07