Mutagenetix > Incidental Mutation

Incidental Mutation 'R2074:Mff'

227391

Institutional Source

Beutler Lab

Gene Symbol

Mff

Ensembl Gene

ENSMUSG00000026150

Gene Name

mitochondrial fission factor

Synonyms

5230400G24Rik

MMRRC Submission

040079-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.306) question?

Stock #

R2074 (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 82729421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 287 (L287H)

Ref Sequence

ENSEMBL: ENSMUSP00000077446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027331] [ENSMUST00000073025] [ENSMUST00000078332] [ENSMUST00000160744] [ENSMUST00000162003] [ENSMUST00000161648] [ENSMUST00000160972] [ENSMUST00000160786]

AlphaFold

Q6PCP5

Predicted Effect

probably benign
Transcript: ENSMUST00000027331

SMART Domains

Protein: ENSMUSP00000027331
Gene: ENSMUSG00000026149

Domain	Start	End	E-Value	Type
Pfam:L6_membrane	2	220	8.1e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000073025
AA Change: L235H

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

SMART Domains

Protein: ENSMUSP00000072784
Gene: ENSMUSG00000026150
AA Change: L235H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000078332
AA Change: L287H

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

SMART Domains

Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150
AA Change: L287H

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 damaging
Transcript: ENSMUST00000160744
AA Change: L133H

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

SMART Domains

Protein: ENSMUSP00000125629
Gene: ENSMUSG00000026150
AA Change: L133H

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 damaging
Transcript: ENSMUST00000162003
AA Change: L312H

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

SMART Domains

Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
AA Change: L312H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161648
AA Change: L239H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124164
Gene: ENSMUSG00000026150
AA Change: L239H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160972
AA Change: L214H

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

SMART Domains

Protein: ENSMUSP00000124200
Gene: ENSMUSG00000026150
AA Change: L214H

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 damaging
Transcript: ENSMUST00000160786
AA Change: L234H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150
AA Change: L234H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162794

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,867,449 (GRCm39)	Q484*	probably null	Het
Ackr3	T	C	1: 90,141,703 (GRCm39)	I54T	probably damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankef1	T	C	2: 136,387,658 (GRCm39)	S192P	possibly damaging	Het
Ankrd16	T	G	2: 11,794,559 (GRCm39)	C315G	possibly damaging	Het
Ankzf1	T	C	1: 75,172,887 (GRCm39)	S328P	probably damaging	Het
Aqp2	A	G	15: 99,480,981 (GRCm39)	I176V	probably benign	Het
Arhgap45	A	G	10: 79,863,014 (GRCm39)	Y730C	probably damaging	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Asxl2	A	G	12: 3,543,779 (GRCm39)	E316G	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Calu	A	G	6: 29,372,614 (GRCm39)	Y263C	probably damaging	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Cenpf	T	C	1: 189,389,098 (GRCm39)	K1578R	probably damaging	Het
Cep120	A	G	18: 53,852,384 (GRCm39)	V498A	possibly damaging	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,934,761 (GRCm39)	M65K	probably damaging	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Cps1	T	A	1: 67,243,797 (GRCm39)	I1091N	probably benign	Het
Dhx32	T	C	7: 133,323,021 (GRCm39)	N731S	probably benign	Het
Dhx33	G	A	11: 70,890,669 (GRCm39)	R177W	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnah10	T	C	5: 124,891,738 (GRCm39)	S3259P	probably damaging	Het
Dnah7a	T	C	1: 53,496,855 (GRCm39)	I3134V	probably benign	Het
Dock3	A	G	9: 106,870,662 (GRCm39)	F584S	possibly damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Elovl3	A	T	19: 46,120,606 (GRCm39)	E33V	probably damaging	Het
Enpp5	T	C	17: 44,396,264 (GRCm39)	F392S	probably benign	Het
Eogt	T	C	6: 97,108,337 (GRCm39)	T235A	probably benign	Het
Etv3	T	C	3: 87,443,526 (GRCm39)	V370A	probably benign	Het
Ewsr1	C	T	11: 5,021,555 (GRCm39)	R466H	unknown	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Flt1	A	T	5: 147,536,416 (GRCm39)	D808E	possibly damaging	Het
Glg1	C	T	8: 111,895,303 (GRCm39)	G836E	probably damaging	Het
Gm17334	A	G	11: 53,663,654 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,589,941 (GRCm39)	D51E	probably benign	Het
Il12rb2	C	G	6: 67,337,536 (GRCm39)	C115S	probably damaging	Het
Il1rl1	T	C	1: 40,501,204 (GRCm39)	S527P	probably damaging	Het
Ireb2	A	G	9: 54,788,733 (GRCm39)	D69G	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Mmp27	A	G	9: 7,577,740 (GRCm39)	M311V	possibly damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Mybbp1a	G	A	11: 72,332,271 (GRCm39)	S21N	probably benign	Het
Obscn	G	C	11: 58,960,107 (GRCm39)	I3253M	probably damaging	Het
Obscn	T	C	11: 59,023,478 (GRCm39)	D633G	probably damaging	Het
Olr1	C	T	6: 129,479,057 (GRCm39)	V54I	probably benign	Het
Or10j3b	A	T	1: 173,043,377 (GRCm39)	D53V	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Prss8	C	A	7: 127,526,266 (GRCm39)	R148L	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Rabgef1	C	A	5: 130,216,402 (GRCm39)	Q52K	probably benign	Het
Rnf6	C	T	5: 146,147,716 (GRCm39)	R434H	probably damaging	Het
Rpl26	A	G	11: 68,794,099 (GRCm39)	E88G	probably benign	Het
Rpn1	T	A	6: 88,077,944 (GRCm39)	L460Q	probably damaging	Het
Sap130	T	A	18: 31,781,332 (GRCm39)	I165N	probably damaging	Het
Sash1	A	G	10: 8,632,461 (GRCm39)	V258A	probably damaging	Het
Scarb1	G	T	5: 125,371,207 (GRCm39)	N288K	probably benign	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Shank2	C	A	7: 143,963,277 (GRCm39)	S295Y	probably damaging	Het
Slc15a3	T	C	19: 10,834,663 (GRCm39)	S515P	probably damaging	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc39a11	A	G	11: 113,354,800 (GRCm39)	I143T	probably null	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Spata31g1	A	T	4: 42,974,171 (GRCm39)	D1168V	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	C	10: 23,837,071 (GRCm39)	Q227P	probably benign	Het
Tasor	T	A	14: 27,183,170 (GRCm39)	I543K	probably benign	Het
Tecta	G	T	9: 42,248,575 (GRCm39)	Y1937*	probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tmem130	T	A	5: 144,692,084 (GRCm39)	T107S	possibly damaging	Het
Tmem132d	T	C	5: 128,346,195 (GRCm39)	D109G	probably damaging	Het
Tmem81	A	G	1: 132,435,644 (GRCm39)	Y150C	probably damaging	Het
Tnrc18	C	T	5: 142,745,461 (GRCm39)		probably null	Het
Trim43a	A	G	9: 88,468,147 (GRCm39)	K256R	possibly damaging	Het
Trpm6	A	G	19: 18,855,103 (GRCm39)	T1921A	probably damaging	Het
Tubb3	C	T	8: 124,148,009 (GRCm39)	A314V	probably damaging	Het
Ube3b	A	C	5: 114,553,316 (GRCm39)	N896T	probably benign	Het
Unc80	G	A	1: 66,718,903 (GRCm39)		probably null	Het
Upb1	A	G	10: 75,260,347 (GRCm39)	T134A	probably damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Wwc1	G	T	11: 35,780,180 (GRCm39)	D258E	possibly damaging	Het
Zfp619	T	A	7: 39,184,185 (GRCm39)	Y72N	probably benign	Het
Zfp672	G	T	11: 58,207,462 (GRCm39)	H286Q	possibly damaging	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
R1215:Mff	UTSW	1	82,719,609 (GRCm39)	missense	probably benign	0.45
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'- GCTGTATGCATGCAATAGTACC -3'
(R):5'- CCTAGAGCCTATTTACAAGACATGC -3'

Sequencing Primer
(F):5'- GTATGCATGCAATAGTACCATTTTG -3'
(R):5'- TGCACAACTGGCTGAACG -3'

Posted On

2014-09-17