Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02934:Mff'

364205

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mff

Ensembl Gene

ENSMUSG00000026150

Gene Name

mitochondrial fission factor

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

82724890-82752394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82747094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 229 (R229H)

Ref Sequence

ENSEMBL: ENSMUSP00000124334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073025] [ENSMUST00000078332] [ENSMUST00000160744] [ENSMUST00000160786] [ENSMUST00000160972] [ENSMUST00000161648] [ENSMUST00000162003]

AlphaFold

Q6PCP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000073025
AA Change: R152H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072784
Gene: ENSMUSG00000026150
AA Change: R152H

Domain	Start	End	E-Value	Type
Pfam:Miff	1	239	6.6e-101	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078332
AA Change: R204H

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

SMART Domains

Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150
AA Change: R204H

Domain	Start	End	E-Value	Type
Pfam:Miff	1	291	2.2e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160044

SMART Domains

Protein: ENSMUSP00000125005
Gene: ENSMUSG00000026150

Domain	Start	End	E-Value	Type
Pfam:Miff	1	130	7.5e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160632

Predicted Effect

probably benign
Transcript: ENSMUST00000160744

SMART Domains

Protein: ENSMUSP00000125629
Gene: ENSMUSG00000026150

Domain	Start	End	E-Value	Type
Pfam:Miff	1	137	2.6e-44	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000160750
AA Change: R156H

SMART Domains

Protein: ENSMUSP00000125223
Gene: ENSMUSG00000026150
AA Change: R156H

Domain	Start	End	E-Value	Type
Pfam:Miff	1	155	6.2e-67	PFAM
Pfam:Miff	144	220	2.6e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160786
AA Change: R151H

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

SMART Domains

Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150
AA Change: R151H

Domain	Start	End	E-Value	Type
Pfam:Miff	1	238	6e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160972

SMART Domains

Protein: ENSMUSP00000124200
Gene: ENSMUSG00000026150

Domain	Start	End	E-Value	Type
Pfam:Miff	1	152	8.1e-60	PFAM
Pfam:Miff	146	218	1.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161648

SMART Domains

Protein: ENSMUSP00000124164
Gene: ENSMUSG00000026150

Domain	Start	End	E-Value	Type
Pfam:Miff	1	243	1.1e-102	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162003
AA Change: R229H

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

SMART Domains

Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
AA Change: R229H

Domain	Start	End	E-Value	Type
Pfam:Miff	1	316	8.1e-143	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162794

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188333

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout reduces mitochondrial hyperfusion-induced apoptotic cell death of endothelial cells of cardiac microvessels after induced ischemia/reperfusion injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,162,359	R716*	probably null	Het
Abca8a	A	T	11: 110,040,588	N1246K	probably damaging	Het
Acadl	A	G	1: 66,836,975	Y396H	probably benign	Het
Apol7c	A	T	15: 77,526,118	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,576,992	C990*	probably null	Het
Cachd1	C	T	4: 100,968,098	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 122,647,758	T48A	probably benign	Het
Ccdc138	G	T	10: 58,573,580		probably benign	Het
Cenpe	A	G	3: 135,264,351	E2231G	probably damaging	Het
Cog3	T	C	14: 75,741,689	I206V	probably damaging	Het
Cr2	A	G	1: 195,154,325		probably benign	Het
Ctdspl2	T	C	2: 121,979,009	V147A	probably damaging	Het
Cyp4f13	A	G	17: 32,929,871	V300A	probably damaging	Het
Dkk3	A	T	7: 112,150,747	M72K	probably damaging	Het
Dock3	A	T	9: 107,023,745	F340L	probably benign	Het
Fut1	A	G	7: 45,618,703	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 69,016,856	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,954,396	P62L	possibly damaging	Het
Kmt2e	T	C	5: 23,497,884	S1021P	probably damaging	Het
Krt13	A	C	11: 100,119,084	L320R	probably damaging	Het
Ldhal6b	T	C	17: 5,417,544	T372A	probably benign	Het
Manba	T	C	3: 135,544,749	V379A	probably benign	Het
Map1b	C	T	13: 99,435,131	V361I	probably benign	Het
Map4k1	A	G	7: 28,994,106	S399G	probably benign	Het
Naga	T	C	15: 82,330,200	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,025,557	M2045K	probably benign	Het
Nipal1	T	C	5: 72,647,907	L7P	probably damaging	Het
Olfr9	T	A	10: 128,990,089	M59K	probably damaging	Het
Pcmt1	A	T	10: 7,640,727	M187K	probably benign	Het
Perp	A	T	10: 18,855,772	T160S	probably damaging	Het
Rapgef6	G	A	11: 54,625,864	D169N	probably damaging	Het
Sel1l	G	A	12: 91,809,936	Q711*	probably null	Het
Sept5	T	C	16: 18,629,831	Y7C	probably damaging	Het
Spdya	A	T	17: 71,556,400	N48I	probably benign	Het
Stard6	T	A	18: 70,496,104		probably benign	Het
Sytl2	T	C	7: 90,375,992	V396A	probably benign	Het
Tcaf3	T	G	6: 42,593,898	M307L	probably benign	Het
Tdrd6	T	C	17: 43,627,887	N757D	probably benign	Het
Tgm1	T	A	14: 55,709,989	D305V	probably damaging	Het
Themis2	T	A	4: 132,789,551	M213L	probably damaging	Het
Tmem184c	A	G	8: 77,597,820	V347A	probably damaging	Het
Tmem214	A	G	5: 30,871,544	E159G	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Tshz1	A	T	18: 84,013,090	S1064R	probably damaging	Het
Ubr2	C	T	17: 46,957,340	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,929	I288N	probably benign	Het
Vmn2r97	T	C	17: 18,929,685	V445A	probably benign	Het
Whrn	G	A	4: 63,416,105	T813M	probably damaging	Het
Xirp2	C	T	2: 67,515,676	H2754Y	probably benign	Het

Other mutations in Mff

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Mff	APN	1	82741975	missense	probably damaging	1.00
IGL03381:Mff	APN	1	82741940	missense	probably damaging	1.00
R0652:Mff	UTSW	1	82750564	missense	possibly damaging	0.91
R0755:Mff	UTSW	1	82750605	critical splice donor site	probably null
R1215:Mff	UTSW	1	82741888	missense	probably benign	0.45
R2074:Mff	UTSW	1	82751700	missense	probably damaging	1.00
R2078:Mff	UTSW	1	82741921	missense	probably damaging	1.00
R2365:Mff	UTSW	1	82735471	missense	possibly damaging	0.74
R4498:Mff	UTSW	1	82741780	intron	probably benign
R5099:Mff	UTSW	1	82750471	intron	probably benign
R5867:Mff	UTSW	1	82750606	critical splice donor site	probably null
R5984:Mff	UTSW	1	82731127	missense	probably benign	0.00
R6723:Mff	UTSW	1	82751666	missense	possibly damaging	0.91
R7135:Mff	UTSW	1	82747091	nonsense	probably null
R7373:Mff	UTSW	1	82737117	splice site	probably null
R7475:Mff	UTSW	1	82745438	splice site	probably null
R7792:Mff	UTSW	1	82747081	critical splice acceptor site	probably null
R8088:Mff	UTSW	1	82751649	missense	probably damaging	1.00
R9375:Mff	UTSW	1	82729286	missense	probably benign	0.00

Posted On

2015-12-18