Mutagenetix > Incidental Mutation

Incidental Mutation 'R1609:Atp5if1'

176667

Institutional Source

Beutler Lab

Gene Symbol

Atp5if1

Ensembl Gene

ENSMUSG00000054428

Gene Name

ATP synthase inhibitory factor subunit 1

Synonyms

Atpif1, If1

MMRRC Submission

039646-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1609 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132257866-132260970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132258078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 47 (D47G)

Ref Sequence

ENSEMBL: ENSMUSP00000133099 (fasta)

Gene Model

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

probably benign
Transcript: ENSMUST00000067496
AA Change: D79G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000064282
Gene: ENSMUSG00000054428
AA Change: D79G

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

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

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: ENSMUST00000152993
AA Change: D47G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000133099
Gene: ENSMUSG00000054428
AA Change: D47G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145795

Predicted Effect

probably benign
Transcript: ENSMUST00000139074

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: ENSMUST00000144073

SMART Domains

Protein: ENSMUSP00000131575
Gene: ENSMUSG00000054405

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.1%

Validation Efficiency

96% (49/51)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	C	T	12: 84,039,630 (GRCm39)	R380C	possibly damaging	Het
Allc	A	T	12: 28,603,993 (GRCm39)	D363E	probably damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
App	C	A	16: 84,876,837 (GRCm39)	V185L	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cbr4	T	A	8: 61,956,192 (GRCm39)	Y220N	probably damaging	Het
Ccdc6	C	A	10: 70,002,877 (GRCm39)	Q203K	probably damaging	Het
Cntnap2	T	C	6: 45,992,264 (GRCm39)	V397A	probably benign	Het
Dmxl2	A	G	9: 54,316,547 (GRCm39)	I1613T	possibly damaging	Het
Dnah14	T	C	1: 181,577,742 (GRCm39)	S3020P	probably damaging	Het
Dnah7b	T	C	1: 46,392,126 (GRCm39)	L3829P	probably damaging	Het
Fbxw25	C	T	9: 109,492,578 (GRCm39)	C53Y	probably benign	Het
Fndc1	G	T	17: 7,991,598 (GRCm39)	H699Q	unknown	Het
Gnaq	G	A	19: 16,360,618 (GRCm39)	V314M	possibly damaging	Het
Gpr158	A	G	2: 21,788,104 (GRCm39)	T582A	possibly damaging	Het
Mapk1	T	C	16: 16,856,170 (GRCm39)		probably benign	Het
Med1	T	A	11: 98,051,996 (GRCm39)	H456L	possibly damaging	Het
Myo6	G	A	9: 80,195,499 (GRCm39)		probably null	Het
Nipbl	A	G	15: 8,396,148 (GRCm39)	Y142H	probably damaging	Het
Or4c113	A	T	2: 88,885,688 (GRCm39)	F27L	probably benign	Het
Or8k24	A	G	2: 86,215,838 (GRCm39)	I308T	probably benign	Het
Or8k33	A	C	2: 86,383,949 (GRCm39)	V173G	probably damaging	Het
Pgbd5	T	C	8: 125,160,750 (GRCm39)	D39G	probably benign	Het
Pnisr	G	T	4: 21,871,440 (GRCm39)	G387*	probably null	Het
Pnpla6	T	C	8: 3,567,135 (GRCm39)	L61P	probably damaging	Het
Prkra	A	T	2: 76,463,936 (GRCm39)	I242N	probably benign	Het
Rp1	A	G	1: 4,419,424 (GRCm39)	S563P	probably damaging	Het
Rtp3	A	G	9: 110,815,085 (GRCm39)		probably benign	Het
Sema3d	A	G	5: 12,591,023 (GRCm39)	T301A	probably damaging	Het
Setmar	A	G	6: 108,053,076 (GRCm39)	D190G	probably benign	Het
Sf3b2	A	G	19: 5,345,061 (GRCm39)		probably benign	Het
Taf4b	A	G	18: 14,968,938 (GRCm39)	K692E	probably damaging	Het
Tktl2	A	G	8: 66,965,504 (GRCm39)	E354G	probably benign	Het
Tspan4	A	G	7: 141,071,557 (GRCm39)	T135A	probably damaging	Het
Vmn1r22	G	T	6: 57,877,733 (GRCm39)	Y81*	probably null	Het
Vmn2r31	T	C	7: 7,387,888 (GRCm39)	E561G	probably damaging	Het
Xrn1	A	T	9: 95,856,946 (GRCm39)	K389N	probably benign	Het
Zfp277	A	T	12: 40,378,719 (GRCm39)	N379K	probably damaging	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
R4536:Atp5if1	UTSW	4	132,260,870 (GRCm39)	missense	possibly damaging	0.58
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'- AGTAGAAGGCATCAGGCAAGTTTCC -3'
(R):5'- GCCAATTTTCCCTCCCAACTCAGGA -3'

Sequencing Primer
(F):5'- ATCAGGCAAGTTTCCTGGTG -3'
(R):5'- gaactgaaccctgactccc -3'

Posted On

2014-04-24