Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Atp5c1'

263034

Institutional Source

Beutler Lab

Gene Symbol

Atp5c1

Ensembl Gene

ENSMUSG00000025781

Gene Name

ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1

Synonyms

F1 gamma, 1700094F02Rik

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10056016-10080510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10063465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 160 (S160P)

Ref Sequence

ENSEMBL: ENSMUSP00000110546 (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: S184P

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026887
Gene: ENSMUSG00000025781
AA Change: S184P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114896
AA Change: S160P

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110546
Gene: ENSMUSG00000025781
AA Change: S160P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114897
AA Change: S184P

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110547
Gene: ENSMUSG00000025781
AA Change: S184P

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

probably benign
Transcript: ENSMUST00000139810

SMART Domains

Protein: ENSMUSP00000123100
Gene: ENSMUSG00000025781

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145530
AA Change: S160P

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116508
Gene: ENSMUSG00000025781
AA Change: S160P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153554
AA Change: S160P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116368
Gene: ENSMUSG00000025781
AA Change: S160P

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

Meta Mutation Damage Score

0.2524

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	Het

Other mutations in Atp5c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Atp5c1	APN	2	10068666	missense	probably damaging	1.00
R4651:Atp5c1	UTSW	2	10063476	missense	probably damaging	1.00
R4670:Atp5c1	UTSW	2	10059617	missense	probably damaging	1.00
R5097:Atp5c1	UTSW	2	10063512	missense	probably benign	0.01
R5275:Atp5c1	UTSW	2	10068733	missense	possibly damaging	0.51
R5295:Atp5c1	UTSW	2	10068733	missense	possibly damaging	0.51
R6195:Atp5c1	UTSW	2	10064115	missense	possibly damaging	0.79
R6536:Atp5c1	UTSW	2	10080316	unclassified	probably benign
R9050:Atp5c1	UTSW	2	10064238	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGAGGTCTCCTGACACAC -3'
(R):5'- GCTATTTTCTTACAGCACAGTGTC -3'

Sequencing Primer
(F):5'- TACCAGCAGTCGCAATGGTATTC -3'
(R):5'- TTACAGCACAGTGTCTCATTAACC -3'

Posted On

2015-02-05