Mutagenetix > Incidental Mutation

Incidental Mutation 'R5270:Atp5if1'

400173

Institutional Source

Beutler Lab

Gene Symbol

Atp5if1

Ensembl Gene

ENSMUSG00000054428

Gene Name

ATP synthase inhibitory factor subunit 1

Synonyms

Atpif1, If1

MMRRC Submission

042835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132257866-132260970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132260611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 27 (F27L)

Ref Sequence

ENSEMBL: ENSMUSP00000133099 (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

probably damaging
Transcript: ENSMUST00000067496
AA Change: F59L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064282
Gene: ENSMUSG00000054428
AA Change: F59L

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

probably damaging
Transcript: ENSMUST00000152993
AA Change: F27L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133099
Gene: ENSMUSG00000054428
AA Change: F27L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142281

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

Meta Mutation Damage Score

0.7885

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (59/60)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,282,650 (GRCm39)	V585A	possibly damaging	Het
Adam6a	A	T	12: 113,507,747 (GRCm39)	H40L	possibly damaging	Het
Adamts20	G	A	15: 94,180,400 (GRCm39)	P1752S	probably benign	Het
B230104I21Rik	A	G	4: 154,434,050 (GRCm39)		probably benign	Het
Ciz1	C	A	2: 32,264,511 (GRCm39)		probably null	Het
Crb1	T	A	1: 139,164,602 (GRCm39)	Y1174F	probably damaging	Het
Csf2rb2	A	T	15: 78,176,182 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,918,312 (GRCm39)	M433K	probably benign	Het
Dock4	A	G	12: 40,783,270 (GRCm39)	I735V	probably benign	Het
Dpp6	C	T	5: 27,839,532 (GRCm39)	S349L	probably damaging	Het
Epg5	T	A	18: 78,026,778 (GRCm39)	N1256K	possibly damaging	Het
Epha4	A	G	1: 77,483,244 (GRCm39)	V255A	probably damaging	Het
Gabrb1	A	T	5: 72,265,669 (GRCm39)	D155V	probably damaging	Het
Gpr35	A	T	1: 92,910,299 (GRCm39)	T4S	probably benign	Het
Hcrt	T	C	11: 100,652,823 (GRCm39)	T64A	probably damaging	Het
Henmt1	G	A	3: 108,867,530 (GRCm39)	R355H	probably benign	Het
Hrh1	C	A	6: 114,458,179 (GRCm39)	R487S	possibly damaging	Het
Ints2	T	C	11: 86,106,621 (GRCm39)	S930G	probably damaging	Het
Irs2	G	A	8: 11,056,678 (GRCm39)	Q585*	probably null	Het
Kcns1	C	A	2: 164,010,249 (GRCm39)	R170L	probably benign	Het
Kdm3b	T	C	18: 34,960,467 (GRCm39)	S1351P	probably damaging	Het
Ly9	T	C	1: 171,428,730 (GRCm39)	T297A	probably damaging	Het
M6pr	G	A	6: 122,292,048 (GRCm39)	D127N	possibly damaging	Het
Macir	T	C	1: 97,573,720 (GRCm39)	Q115R	probably damaging	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Nit2	G	A	16: 56,977,494 (GRCm39)	P179S	probably damaging	Het
Per1	T	C	11: 68,994,424 (GRCm39)	M516T	probably benign	Het
Pkdrej	A	T	15: 85,702,528 (GRCm39)	I1136N	probably damaging	Het
Pramel27	A	G	4: 143,578,468 (GRCm39)	M243V	probably damaging	Het
Prdm9	G	T	17: 15,773,625 (GRCm39)	T257K	probably benign	Het
Prkdc	T	C	16: 15,552,819 (GRCm39)	L2085P	probably damaging	Het
Rasgrf1	A	C	9: 89,908,747 (GRCm39)	E1240D	probably benign	Het
Rrh	T	C	3: 129,606,998 (GRCm39)	I142V	probably benign	Het
Saal1	G	T	7: 46,351,157 (GRCm39)		probably benign	Het
Sdcbp2	A	G	2: 151,426,812 (GRCm39)	I70V	probably benign	Het
Skida1	C	A	2: 18,052,460 (GRCm39)	A231S	probably benign	Het
Smtnl2	T	A	11: 72,290,743 (GRCm39)	T401S	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spag4	G	T	2: 155,907,853 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,283 (GRCm39)	M179V	probably benign	Het
Tm9sf1	G	T	14: 55,873,938 (GRCm39)	T520N	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Vmn1r47	A	T	6: 89,999,525 (GRCm39)	Q219L	probably damaging	Het
Vmn2r104	A	T	17: 20,258,528 (GRCm39)	C539S	probably damaging	Het
Wdr17	G	T	8: 55,096,221 (GRCm39)	S1024R	probably benign	Het
Zc3h4	A	G	7: 16,168,440 (GRCm39)	T850A	unknown	Het
Zfa-ps	A	G	10: 52,419,552 (GRCm39)		noncoding transcript	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Zfp353-ps	G	T	8: 42,534,572 (GRCm39)		noncoding transcript	Het
Zfp607a	A	T	7: 27,577,730 (GRCm39)	K267*	probably null	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
R4536:Atp5if1	UTSW	4	132,260,870 (GRCm39)	missense	possibly damaging	0.58
R8992:Atp5if1	UTSW	4	132,260,685 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGCGATACTAGCAGTCTCGAC -3'
(R):5'- TATGAAGGTCCTGCAAACCCG -3'

Sequencing Primer
(F):5'- ACTACGAGGCGACCCGATG -3'
(R):5'- AAACCCGAGGCTTCGTCTC -3'

Posted On

2016-07-06