Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01862:Mtfr2'

178362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtfr2

Ensembl Gene

ENSMUSG00000019992

Gene Name

mitochondrial fission regulator 2

Synonyms

4933412C16Rik, Fam54a, 2610016C23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

20223516-20237050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20224149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 28 (V28M)

Ref Sequence

ENSEMBL: ENSMUSP00000129315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169712] [ENSMUST00000191438] [ENSMUST00000217608]

AlphaFold

Q8VED8

Predicted Effect

probably benign
Transcript: ENSMUST00000169712
AA Change: V28M

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129315
Gene: ENSMUSG00000019992
AA Change: V28M

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	40	299	3.7e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191438

SMART Domains

Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608

Domain	Start	End	E-Value	Type
Pfam:THRAP3_BCLAF1	1	502	1.3e-140	PFAM
low complexity region	525	538	N/A	INTRINSIC
low complexity region	562	583	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213374

Predicted Effect

probably benign
Transcript: ENSMUST00000217608
AA Change: V28M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,837,997 (GRCm39)	S1085*	probably null	Het
Akap9	T	G	5: 4,001,705 (GRCm39)	S94A	probably damaging	Het
Akap9	T	A	5: 4,115,856 (GRCm39)	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,578,182 (GRCm39)	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Cacna1h	C	T	17: 25,602,457 (GRCm39)	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,685,196 (GRCm39)	Y32C	probably damaging	Het
Cep120	A	C	18: 53,847,839 (GRCm39)	S673R	probably benign	Het
Cep162	T	C	9: 87,135,986 (GRCm39)	E19G	possibly damaging	Het
Cpxm2	C	T	7: 131,661,540 (GRCm39)	V416I	probably benign	Het
Dapk1	A	G	13: 60,874,424 (GRCm39)	T427A	probably benign	Het
Ecm1	A	T	3: 95,641,586 (GRCm39)	D549E	probably benign	Het
Efemp1	T	A	11: 28,871,428 (GRCm39)	N342K	probably damaging	Het
Erc2	T	C	14: 27,993,526 (GRCm39)		probably benign	Het
Fhip2b	C	T	14: 70,825,130 (GRCm39)	R402H	probably benign	Het
Galnt13	T	C	2: 54,747,926 (GRCm39)	V269A	probably damaging	Het
Gm6465	T	G	5: 11,899,020 (GRCm39)	L171R	probably damaging	Het
Gpatch1	A	G	7: 34,994,703 (GRCm39)	V521A	probably benign	Het
Heatr5b	A	T	17: 79,103,914 (GRCm39)	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,578,057 (GRCm39)	V484D	probably damaging	Het
Ints4	T	A	7: 97,190,360 (GRCm39)	V953E	probably damaging	Het
Iqce	T	C	5: 140,685,480 (GRCm39)	D15G	possibly damaging	Het
Kif3a	T	A	11: 53,461,368 (GRCm39)	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,635,271 (GRCm39)	I254F	probably damaging	Het
Ly75	A	T	2: 60,129,516 (GRCm39)	V1623D	probably damaging	Het
Mapt	T	A	11: 104,180,828 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,639,875 (GRCm39)		probably null	Het
Mcc	G	T	18: 44,892,363 (GRCm39)	Q84K	probably benign	Het
Mgat4f	G	A	1: 134,318,349 (GRCm39)	V374I	probably benign	Het
Myh8	T	A	11: 67,180,520 (GRCm39)	Y585*	probably null	Het
Napsa	T	C	7: 44,231,917 (GRCm39)	V202A	probably damaging	Het
Nsd2	A	G	5: 34,001,080 (GRCm39)	K199R	probably null	Het
Ntpcr	C	T	8: 126,462,837 (GRCm39)	A18V	probably benign	Het
Or2aj4	A	T	16: 19,385,426 (GRCm39)	M69K	probably damaging	Het
Or2g25	G	T	17: 37,970,368 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	A	7: 104,963,439 (GRCm39)	I76N	probably damaging	Het
Or5g9	G	T	2: 85,552,472 (GRCm39)	C241F	probably damaging	Het
Or8b9	A	G	9: 37,766,477 (GRCm39)	D121G	probably damaging	Het
Os9	A	G	10: 126,935,573 (GRCm39)	V299A	probably benign	Het
Pcdhb7	T	C	18: 37,476,915 (GRCm39)	S684P	possibly damaging	Het
Phf19	A	C	2: 34,787,067 (GRCm39)		probably null	Het
Pkd1l3	G	A	8: 110,357,908 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,429,134 (GRCm39)	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,326,258 (GRCm39)	V64E	possibly damaging	Het
Psme4	T	A	11: 30,762,038 (GRCm39)	C459*	probably null	Het
Ptk6	T	C	2: 180,841,433 (GRCm39)	S159G	probably benign	Het
Rhd	T	C	4: 134,617,650 (GRCm39)	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,492,494 (GRCm39)	Y601C	probably damaging	Het
Shroom3	T	C	5: 93,110,148 (GRCm39)	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,749,630 (GRCm39)		probably null	Het
Spg7	T	A	8: 123,803,669 (GRCm39)	L233Q	probably damaging	Het
Strip1	C	A	3: 107,529,198 (GRCm39)	R353L	probably damaging	Het
Ubr1	T	C	2: 120,764,823 (GRCm39)	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,204,469 (GRCm39)	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,266,095 (GRCm39)		probably benign	Het
Vmn1r193	A	T	13: 22,403,984 (GRCm39)	C3S	probably benign	Het
Yju2b	G	T	8: 84,987,163 (GRCm39)		probably benign	Het
Zdhhc5	C	T	2: 84,520,836 (GRCm39)	R447H	probably benign	Het
Zfp202	A	G	9: 40,123,124 (GRCm39)	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441 (GRCm39)	C990S	probably damaging	Het

Other mutations in Mtfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Mtfr2	APN	10	20,233,394 (GRCm39)	missense	probably damaging	1.00
IGL01547:Mtfr2	APN	10	20,233,345 (GRCm39)	missense	probably damaging	1.00
IGL01763:Mtfr2	APN	10	20,228,683 (GRCm39)	intron	probably benign
IGL02707:Mtfr2	APN	10	20,224,084 (GRCm39)	missense	probably benign	0.40
IGL03008:Mtfr2	APN	10	20,229,185 (GRCm39)	missense	possibly damaging	0.86
R0049:Mtfr2	UTSW	10	20,224,158 (GRCm39)	missense	probably damaging	1.00
R0049:Mtfr2	UTSW	10	20,224,158 (GRCm39)	missense	probably damaging	1.00
R0097:Mtfr2	UTSW	10	20,224,122 (GRCm39)	missense	probably damaging	1.00
R0097:Mtfr2	UTSW	10	20,224,122 (GRCm39)	missense	probably damaging	1.00
R1186:Mtfr2	UTSW	10	20,228,598 (GRCm39)	missense	probably benign	0.00
R4466:Mtfr2	UTSW	10	20,224,159 (GRCm39)	missense	probably damaging	1.00
R5288:Mtfr2	UTSW	10	20,233,448 (GRCm39)	missense	probably damaging	0.99
R5373:Mtfr2	UTSW	10	20,228,598 (GRCm39)	missense	probably benign	0.30
R6999:Mtfr2	UTSW	10	20,229,862 (GRCm39)	missense	probably benign	0.05
R7066:Mtfr2	UTSW	10	20,229,972 (GRCm39)	missense	possibly damaging	0.91
R7095:Mtfr2	UTSW	10	20,228,666 (GRCm39)	missense	probably benign
R7112:Mtfr2	UTSW	10	20,233,312 (GRCm39)	missense	probably damaging	0.97
R7506:Mtfr2	UTSW	10	20,229,131 (GRCm39)	missense	probably benign	0.06
R7847:Mtfr2	UTSW	10	20,233,198 (GRCm39)	missense	probably benign	0.15
R8017:Mtfr2	UTSW	10	20,229,900 (GRCm39)	missense	probably damaging	0.99
R8019:Mtfr2	UTSW	10	20,229,900 (GRCm39)	missense	probably damaging	0.99
R8049:Mtfr2	UTSW	10	20,228,603 (GRCm39)	missense	possibly damaging	0.95
R8082:Mtfr2	UTSW	10	20,229,135 (GRCm39)	missense	probably benign	0.02
R8933:Mtfr2	UTSW	10	20,233,274 (GRCm39)	missense	possibly damaging	0.53
R9428:Mtfr2	UTSW	10	20,233,039 (GRCm39)	missense	possibly damaging	0.90

Posted On

2014-05-07