Mutagenetix > Incidental Mutation

Incidental Mutation 'R6195:Atp5f1c'

502824

Institutional Source

Beutler Lab

Gene Symbol

Atp5f1c

Ensembl Gene

ENSMUSG00000025781

Gene Name

ATP synthase F1 subunit gamma

Synonyms

Atp5c1, 1700094F02Rik, F1 gamma

MMRRC Submission

044335-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R6195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10060841-10085321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10068926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 116 (I116M)

Ref Sequence

ENSEMBL: ENSMUSP00000116368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026887] [ENSMUST00000114896] [ENSMUST00000114897] [ENSMUST00000130067] [ENSMUST00000139810] [ENSMUST00000145530] [ENSMUST00000153554]

AlphaFold

Q91VR2

Predicted Effect

probably benign
Transcript: ENSMUST00000026887
AA Change: I140M

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026887
Gene: ENSMUSG00000025781
AA Change: I140M

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	26	297	1.7e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114896
AA Change: I116M

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110546
Gene: ENSMUSG00000025781
AA Change: I116M

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	273	1.2e-79	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114897
AA Change: I140M

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110547
Gene: ENSMUSG00000025781
AA Change: I140M

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	27	297	6.8e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130067

SMART Domains

Protein: ENSMUSP00000117182
Gene: ENSMUSG00000025781

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	101	2.1e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139810
AA Change: I116M

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123100
Gene: ENSMUSG00000025781
AA Change: I116M

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	153	6.1e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145530
AA Change: I116M

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116508
Gene: ENSMUSG00000025781
AA Change: I116M

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	187	1.2e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153554
AA Change: I116M

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116368
Gene: ENSMUSG00000025781
AA Change: I116M

Domain	Start	End	E-Value	Type
Pfam:ATP-synt	2	171	1.2e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,142 (GRCm39)		probably null	Het
Aadacl2fm2	G	A	3: 59,659,623 (GRCm39)	V359I	probably damaging	Het
Abtb1	T	C	6: 88,817,718 (GRCm39)	E50G	probably benign	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Aoc1	C	A	6: 48,885,611 (GRCm39)	N705K	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef7	C	T	8: 11,872,017 (GRCm39)	T701I	probably damaging	Het
Atg10	G	T	13: 91,356,555 (GRCm39)		probably null	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Creb3	A	G	4: 43,566,346 (GRCm39)	D260G	probably benign	Het
Cyp1b1	G	T	17: 80,021,695 (GRCm39)	L16M	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dlec1	A	G	9: 118,966,321 (GRCm39)	K1097E	probably benign	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dok3	T	C	13: 55,671,389 (GRCm39)	N394S	probably benign	Het
Dpcd	A	G	19: 45,565,458 (GRCm39)	D144G	probably damaging	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eif4e1b	A	G	13: 54,932,018 (GRCm39)	N34S	probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fer1l6	T	C	15: 58,509,806 (GRCm39)	S1423P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Fxn	G	A	19: 24,239,407 (GRCm39)	R162C	probably damaging	Het
Fxr2	C	T	11: 69,543,099 (GRCm39)	T632M	probably benign	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Golga7b	A	T	19: 42,251,886 (GRCm39)	D44V	probably benign	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Hmcn2	T	C	2: 31,274,127 (GRCm39)	S1416P	probably damaging	Het
Hoxa11	G	A	6: 52,222,681 (GRCm39)	R7C	probably damaging	Het
Igkv14-126	A	T	6: 67,873,475 (GRCm39)	T68S	possibly damaging	Het
Insyn2a	T	C	7: 134,520,377 (GRCm39)	D51G	probably damaging	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kif22	A	G	7: 126,628,131 (GRCm39)	S540P	probably damaging	Het
Ldlr	T	A	9: 21,643,077 (GRCm39)	C34*	probably null	Het
Lrrtm4	T	C	6: 79,998,939 (GRCm39)	L117P	probably damaging	Het
Mad2l1	G	T	6: 66,514,612 (GRCm39)	G94C	possibly damaging	Het
Malrd1	C	A	2: 15,700,137 (GRCm39)	H661Q	probably damaging	Het
Mical3	T	A	6: 120,993,796 (GRCm39)		probably benign	Het
Mipep	T	A	14: 61,109,554 (GRCm39)	W644R	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myof	A	G	19: 37,901,805 (GRCm39)	F997L	possibly damaging	Het
Nagpa	C	T	16: 5,021,613 (GRCm39)	R46H	probably damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or52h1	A	T	7: 103,828,961 (GRCm39)	V218D	possibly damaging	Het
Or5ac23	A	G	16: 59,149,785 (GRCm39)	V29A	possibly damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pcdhb7	G	A	18: 37,475,709 (GRCm39)	V282I	probably benign	Het
Pcnx4	A	G	12: 72,603,648 (GRCm39)	D523G	possibly damaging	Het
Pigx	G	A	16: 31,903,404 (GRCm39)	T219I	probably damaging	Het
Plch1	G	T	3: 63,648,210 (GRCm39)	P399Q	probably damaging	Het
Pvrig-ps	T	A	5: 138,340,537 (GRCm39)	F74I	possibly damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Serpina9	T	A	12: 103,967,666 (GRCm39)	H243L	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 57,051,713 (GRCm39)	E6G	possibly damaging	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tnrc18	T	A	5: 142,750,928 (GRCm39)	K1217N	unknown	Het
Trim33	G	A	3: 103,244,848 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Tubgcp6	A	T	15: 89,006,994 (GRCm39)	D9E	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Zfp655	T	A	5: 145,180,572 (GRCm39)	F143L	possibly damaging	Het

Other mutations in Atp5f1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Atp5f1c	APN	2	10,073,477 (GRCm39)	missense	probably damaging	1.00
R3106:Atp5f1c	UTSW	2	10,068,276 (GRCm39)	missense	probably benign	0.35
R4651:Atp5f1c	UTSW	2	10,068,287 (GRCm39)	missense	probably damaging	1.00
R4670:Atp5f1c	UTSW	2	10,064,428 (GRCm39)	missense	probably damaging	1.00
R5097:Atp5f1c	UTSW	2	10,068,323 (GRCm39)	missense	probably benign	0.01
R5275:Atp5f1c	UTSW	2	10,073,544 (GRCm39)	missense	possibly damaging	0.51
R5295:Atp5f1c	UTSW	2	10,073,544 (GRCm39)	missense	possibly damaging	0.51
R6536:Atp5f1c	UTSW	2	10,085,127 (GRCm39)	unclassified	probably benign
R9050:Atp5f1c	UTSW	2	10,069,049 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCGTAATGGCAATAGCTCTG -3'
(R):5'- TTAAGGCACCTGAGGACAAG -3'

Sequencing Primer
(F):5'- GCGTAATGGCAATAGCTCTGGTAATC -3'
(R):5'- CAAGAAGAAGCACCTCATTATTGG -3'

Posted On

2018-02-27