Mutagenetix > Incidental Mutation

Incidental Mutation 'R4536:Atp5if1'

333319

Institutional Source

Beutler Lab

Gene Symbol

Atp5if1

Ensembl Gene

ENSMUSG00000054428

Gene Name

ATP synthase inhibitory factor subunit 1

Synonyms

Atpif1, If1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4536 (G1)

Quality Score

112

Status

Not validated

Chromosome

Chromosomal Location

132257866-132260970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 132260870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 4 (S4A)

Ref Sequence

ENSEMBL: ENSMUSP00000064282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067467] [ENSMUST00000067496] [ENSMUST00000094657] [ENSMUST00000105939] [ENSMUST00000105940] [ENSMUST00000152993] [ENSMUST00000138334] [ENSMUST00000139074] [ENSMUST00000144073]

AlphaFold

O35143

Predicted Effect

probably benign
Transcript: ENSMUST00000067467

SMART Domains

Protein: ENSMUSP00000068069
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
SCOP:d1repc1	23	79	4e-5	SMART
Blast:DnaJ	56	79	6e-9	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067496
AA Change: S4A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000064282
Gene: ENSMUSG00000054428
AA Change: S4A

Domain	Start	End	E-Value	Type
Pfam:IATP	26	106	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094657

SMART Domains

Protein: ENSMUSP00000092242
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DnaJ	56	115	2.65e-18	SMART
low complexity region	135	146	N/A	INTRINSIC
coiled coil region	164	210	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105938

Predicted Effect

probably benign
Transcript: ENSMUST00000105939

SMART Domains

Protein: ENSMUSP00000101559
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DnaJ	22	81	2.09e-16	SMART
low complexity region	101	112	N/A	INTRINSIC
coiled coil region	130	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105940

SMART Domains

Protein: ENSMUSP00000101560
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DnaJ	56	96	2.15e-1	SMART
low complexity region	116	127	N/A	INTRINSIC
coiled coil region	145	191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142281

Predicted Effect

probably benign
Transcript: ENSMUST00000152993

SMART Domains

Protein: ENSMUSP00000133099
Gene: ENSMUSG00000054428

Domain	Start	End	E-Value	Type
Pfam:IATP	1	61	1.8e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150207

SMART Domains

Protein: ENSMUSP00000121009
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
DnaJ	32	91	2.65e-18	SMART
low complexity region	111	122	N/A	INTRINSIC
low complexity region	178	190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138334

SMART Domains

Protein: ENSMUSP00000130135
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
DnaJ	38	84	4.42e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139074

Predicted Effect

probably benign
Transcript: ENSMUST00000144073

SMART Domains

Protein: ENSMUSP00000131575
Gene: ENSMUSG00000054405

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the ATPase inhibitor family of proteins. This protein has been shown to negatively regulate the ATP hydrolysis activity of the F1Fo-ATPase. Knockdown of this gene is associated with reduced heme synthesis in differentiating erythroid cells. Misregulation of this gene has been found to lead to increased aerobic glycolysis in mouse cancer cells, while high expression levels of this gene have been correlated with gastric and liver cancer severity in human patients. A pseudogene of this gene has been identified. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amot	A	G	X: 144,263,138 (GRCm39)	S398P	probably benign	Het
Arhgef17	G	C	7: 100,579,061 (GRCm39)	S629C	probably damaging	Het
Atg5lrt	G	A	10: 95,972,564 (GRCm39)	A34T	probably benign	Het
Atp8b2	G	A	3: 89,849,091 (GRCm39)	A1081V	probably benign	Het
Atr	A	G	9: 95,756,471 (GRCm39)	D867G	probably benign	Het
C1qtnf3	G	A	15: 10,972,113 (GRCm39)	S206N	probably damaging	Het
Cep152	A	C	2: 125,444,867 (GRCm39)		probably null	Het
Cetn1	T	C	18: 9,618,998 (GRCm39)	E141G	probably damaging	Het
Dennd2b	A	T	7: 109,130,363 (GRCm39)	S879R	probably damaging	Het
Erbb4	A	T	1: 68,385,781 (GRCm39)	N269K	probably damaging	Het
Exoc4	C	T	6: 33,254,179 (GRCm39)	R112C	probably damaging	Het
Frmd4b	T	A	6: 97,287,693 (GRCm39)	Q241L	possibly damaging	Het
Fyco1	A	G	9: 123,667,953 (GRCm39)	V91A	probably damaging	Het
Gls2	G	A	10: 128,036,806 (GRCm39)	V196I	probably benign	Het
Hormad1	T	C	3: 95,492,452 (GRCm39)	V343A	probably benign	Het
Incenp	T	C	19: 9,861,303 (GRCm39)	N450S	unknown	Het
Klhl1	A	C	14: 96,374,019 (GRCm39)		probably null	Het
Mettl4	C	A	17: 95,042,933 (GRCm39)	S301I	possibly damaging	Het
Mlxip	G	A	5: 123,588,566 (GRCm39)	D819N	probably damaging	Het
Or10d5	A	T	9: 39,861,731 (GRCm39)	L112Q	probably damaging	Het
Pam	T	A	1: 97,772,424 (GRCm39)	K440*	probably null	Het
Phldb2	T	C	16: 45,591,044 (GRCm39)	M996V	probably benign	Het
Pira13	T	A	7: 3,825,251 (GRCm39)	M464L	probably benign	Het
Rad51ap2	A	G	12: 11,507,850 (GRCm39)	S591G	possibly damaging	Het
Rfx6	A	G	10: 51,599,880 (GRCm39)	N542S	probably benign	Het
Slc44a4	T	A	17: 35,142,815 (GRCm39)	C254S	probably damaging	Het
Sptbn2	C	T	19: 4,782,630 (GRCm39)	A522V	probably damaging	Het
Syt10	C	T	15: 89,666,825 (GRCm39)	D509N	probably damaging	Het
Tango2	A	G	16: 18,142,219 (GRCm39)		probably null	Het
Tfpi2	T	C	6: 3,968,044 (GRCm39)	N32S	possibly damaging	Het
Trafd1	T	C	5: 121,517,746 (GRCm39)		probably null	Het
Ttll2	A	T	17: 7,619,120 (GRCm39)	I269N	probably benign	Het
Tysnd1	G	A	10: 61,531,832 (GRCm39)	W161*	probably null	Het
Uggt2	A	T	14: 119,256,970 (GRCm39)	M1088K	probably benign	Het

Other mutations in Atp5if1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
macunaima	UTSW	4	132,260,611 (GRCm39)	missense	probably damaging	1.00
R1609:Atp5if1	UTSW	4	132,258,078 (GRCm39)	missense	probably benign	0.00
R5270:Atp5if1	UTSW	4	132,260,611 (GRCm39)	missense	probably damaging	1.00
R8992:Atp5if1	UTSW	4	132,260,685 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGCAAAGAGAGTCGTGGAC -3'
(R):5'- CTGGGTCATGATGCGTTAGAGC -3'

Sequencing Primer
(F):5'- TCGTGGACGTGAAAAGAAAAGGC -3'
(R):5'- GATGCGTTAGAGCCTTGTTTATTAAC -3'

Posted On

2015-08-18