Mutagenetix > Incidental Mutation

Incidental Mutation 'R1215:Mff'

99546

Institutional Source

Beutler Lab

Gene Symbol

Mff

Ensembl Gene

ENSMUSG00000026150

Gene Name

mitochondrial fission factor

Synonyms

5230400G24Rik

MMRRC Submission

039284-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R1215 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82702611-82730115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82719609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 196 (S196T)

Ref Sequence

ENSEMBL: ENSMUSP00000124334 (fasta)

Gene Model

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

AlphaFold

Q6PCP5

Predicted Effect

probably benign
Transcript: ENSMUST00000073025

SMART Domains

Protein: ENSMUSP00000072784
Gene: ENSMUSG00000026150

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

Predicted Effect

probably benign
Transcript: ENSMUST00000078332
AA Change: S171T

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150
AA Change: S171T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159279

SMART Domains

Protein: ENSMUSP00000123713
Gene: ENSMUSG00000026150

Domain	Start	End	E-Value	Type
Pfam:Miff	1	147	1.6e-60	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
AA Change: S37T

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125629
Gene: ENSMUSG00000026150
AA Change: S37T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160750

SMART Domains

Protein: ENSMUSP00000125223
Gene: ENSMUSG00000026150

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 benign
Transcript: ENSMUST00000162003
AA Change: S196T

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
AA Change: S196T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185536

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 benign
Transcript: ENSMUST00000160786

SMART Domains

Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Art5	C	T	7: 101,747,116 (GRCm39)	R123H	probably damaging	Het
Azin2	A	G	4: 128,843,489 (GRCm39)	S66P	probably damaging	Het
Cep295	T	C	9: 15,239,178 (GRCm39)	E1865G	probably benign	Het
Ces1a	A	G	8: 93,759,318 (GRCm39)	C273R	probably damaging	Het
Cfap44	A	G	16: 44,239,666 (GRCm39)	Y571C	probably damaging	Het
Cntfr	C	A	4: 41,662,064 (GRCm39)	W226L	probably damaging	Het
Csmd3	A	T	15: 47,868,227 (GRCm39)		probably null	Het
Cyp2a4	C	T	7: 26,014,226 (GRCm39)	P468S	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E130308A19Rik	T	A	4: 59,690,743 (GRCm39)	D192E	probably benign	Het
Fam184b	C	T	5: 45,741,520 (GRCm39)	R237H	probably damaging	Het
Fmn1	T	A	2: 113,523,375 (GRCm39)	Y1247*	probably null	Het
Grb14	T	C	2: 64,747,608 (GRCm39)	S18G	probably benign	Het
Hs2st1	G	A	3: 144,170,902 (GRCm39)	T90I	possibly damaging	Het
Mcc	A	T	18: 44,601,561 (GRCm39)	N589K	possibly damaging	Het
Nyap1	C	T	5: 137,733,395 (GRCm39)	W546*	probably null	Het
Or13p10	A	T	4: 118,523,496 (GRCm39)	M261L	possibly damaging	Het
Ppp2r3d	A	G	9: 101,089,883 (GRCm39)	S147P	probably benign	Het
Rsph14	T	C	10: 74,860,898 (GRCm39)	H134R	probably benign	Het
Slc25a3	G	A	10: 90,953,170 (GRCm39)	A274V	possibly damaging	Het
Slc43a2	T	A	11: 75,453,688 (GRCm39)	W229R	probably damaging	Het
Slco4c1	C	A	1: 96,756,596 (GRCm39)	L575F	probably damaging	Het
Smyd4	T	A	11: 75,281,121 (GRCm39)	I198N	possibly damaging	Het
Trpm6	A	G	19: 18,773,862 (GRCm39)	D413G	probably damaging	Het
Ush2a	A	G	1: 188,689,479 (GRCm39)	T33A	possibly damaging	Het
Zfp871	A	T	17: 32,994,946 (GRCm39)	D57E	possibly damaging	Het
Zfyve9	T	C	4: 108,507,426 (GRCm39)	Q1176R	probably benign	Het

Other mutations in Mff

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Mff	APN	1	82,719,696 (GRCm39)	missense	probably damaging	1.00
IGL02934:Mff	APN	1	82,724,815 (GRCm39)	missense	probably damaging	1.00
IGL03381:Mff	APN	1	82,719,661 (GRCm39)	missense	probably damaging	1.00
R0652:Mff	UTSW	1	82,728,285 (GRCm39)	missense	possibly damaging	0.91
R0755:Mff	UTSW	1	82,728,326 (GRCm39)	critical splice donor site	probably null
R2074:Mff	UTSW	1	82,729,421 (GRCm39)	missense	probably damaging	1.00
R2078:Mff	UTSW	1	82,719,642 (GRCm39)	missense	probably damaging	1.00
R2365:Mff	UTSW	1	82,713,192 (GRCm39)	missense	possibly damaging	0.74
R4498:Mff	UTSW	1	82,719,501 (GRCm39)	intron	probably benign
R5099:Mff	UTSW	1	82,728,192 (GRCm39)	intron	probably benign
R5867:Mff	UTSW	1	82,728,327 (GRCm39)	critical splice donor site	probably null
R5984:Mff	UTSW	1	82,708,848 (GRCm39)	missense	probably benign	0.00
R6723:Mff	UTSW	1	82,729,387 (GRCm39)	missense	possibly damaging	0.91
R7135:Mff	UTSW	1	82,724,812 (GRCm39)	nonsense	probably null
R7373:Mff	UTSW	1	82,714,838 (GRCm39)	splice site	probably null
R7475:Mff	UTSW	1	82,723,159 (GRCm39)	splice site	probably null
R7792:Mff	UTSW	1	82,724,802 (GRCm39)	critical splice acceptor site	probably null
R8088:Mff	UTSW	1	82,729,370 (GRCm39)	missense	probably damaging	1.00
R9375:Mff	UTSW	1	82,707,007 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCCCTGAGCACACTCATTGC -3'
(R):5'- AGTTCCAGATGCCACACTCAGTCC -3'

Sequencing Primer
(F):5'- AGCACACTCATTGCTGGGTC -3'
(R):5'- TATCTTCCACAACTGAGGGAAAG -3'

Posted On

2014-01-15