Mutagenetix > Incidental Mutation

Incidental Mutation 'R0924:Atpaf1'

83062

Institutional Source

Beutler Lab

Gene Symbol

Atpaf1

Ensembl Gene

ENSMUSG00000028710

Gene Name

ATP synthase mitochondrial F1 complex assembly factor 1

Synonyms

6330547J17Rik, ATP11, ATP11p

MMRRC Submission

039071-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R0924 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115642025-115669120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115652635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 12 (V12D)

Ref Sequence

ENSEMBL: ENSMUSP00000135741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000137401] [ENSMUST00000175725] [ENSMUST00000176047] [ENSMUST00000176192] [ENSMUST00000177280]

AlphaFold

Q811I0

Predicted Effect

probably benign
Transcript: ENSMUST00000137401

SMART Domains

Protein: ENSMUSP00000135490
Gene: ENSMUSG00000028710

Domain	Start	End	E-Value	Type
Pfam:ATP11	1	60	4.6e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000175725
AA Change: V54D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135073
Gene: ENSMUSG00000028710
AA Change: V54D

Domain	Start	End	E-Value	Type
Pfam:ATP11	1	189	2.5e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176047
AA Change: V195D

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

SMART Domains

Protein: ENSMUSP00000135831
Gene: ENSMUSG00000028710
AA Change: V195D

Domain	Start	End	E-Value	Type
low complexity region	9	39	N/A	INTRINSIC
Pfam:ATP11	91	329	2.7e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176192
AA Change: V12D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177280
AA Change: V178D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135214
Gene: ENSMUSG00000028710
AA Change: V178D

Domain	Start	End	E-Value	Type
low complexity region	9	39	N/A	INTRINSIC
Pfam:ATP11	89	212	7.3e-32	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000184179
AA Change: V117D

Meta Mutation Damage Score

0.9513

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ajap1	T	A	4: 153,470,929 (GRCm39)	I293F	probably damaging	Het
Akap10	T	C	11: 61,795,689 (GRCm39)		probably benign	Het
Aldh3b2	T	C	19: 4,029,350 (GRCm39)	V241A	probably benign	Het
Anxa6	A	T	11: 54,885,214 (GRCm39)		probably null	Het
Aurkb	C	A	11: 68,936,822 (GRCm39)	Y12*	probably null	Het
Bicdl1	A	G	5: 115,799,587 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,628,156 (GRCm39)		probably benign	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Ccrl2	A	G	9: 110,885,036 (GRCm39)	V154A	probably benign	Het
Celsr3	C	A	9: 108,723,224 (GRCm39)	Q2831K	possibly damaging	Het
Cplane1	T	C	15: 8,280,554 (GRCm39)		probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Cwf19l2	T	C	9: 3,441,047 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Dnah2	T	C	11: 69,312,134 (GRCm39)	H4393R	probably damaging	Het
Eif2b3	T	A	4: 116,938,775 (GRCm39)	V408D	possibly damaging	Het
Eml3	T	C	19: 8,910,675 (GRCm39)		probably null	Het
Enpp2	T	C	15: 54,770,355 (GRCm39)		probably benign	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Gm14178	T	A	11: 99,638,326 (GRCm39)	T18S		Het
H2bc12	G	A	13: 22,220,210 (GRCm39)	D52N	probably damaging	Het
H2-M11	A	G	17: 36,860,106 (GRCm39)	M324V	probably benign	Het
H2-T13	A	T	17: 36,394,824 (GRCm39)	V33E	probably damaging	Het
Hdac10	T	C	15: 89,010,065 (GRCm39)	T298A	probably benign	Het
Hepacam	A	C	9: 37,295,224 (GRCm39)		probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Ifi27l2a	A	G	12: 103,408,639 (GRCm39)	V68A	probably damaging	Het
Itga11	A	G	9: 62,683,956 (GRCm39)	E1079G	probably benign	Het
Krt6a	T	C	15: 101,599,235 (GRCm39)		probably benign	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Lrrtm2	G	A	18: 35,346,808 (GRCm39)	R165C	probably damaging	Het
Macf1	G	T	4: 123,279,271 (GRCm39)	A3910E	probably damaging	Het
Muc5ac	A	T	7: 141,361,252 (GRCm39)	Y1521F	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Ncam1	A	T	9: 49,473,476 (GRCm39)		probably benign	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nf1	T	G	11: 79,344,692 (GRCm39)	W1260G	probably damaging	Het
Or3a1d	T	C	11: 74,237,624 (GRCm39)	Y262C	probably damaging	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Or6c76b	A	T	10: 129,692,515 (GRCm39)	I43F	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pabpc4	C	T	4: 123,188,458 (GRCm39)	R356C	possibly damaging	Het
Pcbp2	T	A	15: 102,398,197 (GRCm39)	D182E	probably damaging	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Rnf31	T	C	14: 55,830,459 (GRCm39)		probably benign	Het
Robo3	T	A	9: 37,340,778 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Sema6a	A	G	18: 47,381,559 (GRCm39)	L996P	probably damaging	Het
Sh2d4a	T	A	8: 68,787,775 (GRCm39)	F294I	probably damaging	Het
Sorl1	T	A	9: 41,919,470 (GRCm39)		probably benign	Het
Sox1ot	G	T	8: 12,480,455 (GRCm39)		noncoding transcript	Het
Spsb3	A	T	17: 25,110,358 (GRCm39)	N395I	probably damaging	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Srd5a2	G	T	17: 74,331,516 (GRCm39)	N160K	probably damaging	Het
Sting1	A	G	18: 35,868,154 (GRCm39)		probably null	Het
Tmem132d	G	A	5: 128,061,503 (GRCm39)		probably benign	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Vmn2r93	A	G	17: 18,524,443 (GRCm39)	T146A	probably benign	Het
Wdr19	A	G	5: 65,413,782 (GRCm39)		probably benign	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het
Zfp683	T	C	4: 133,783,138 (GRCm39)	Y201H	probably benign	Het

Other mutations in Atpaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02529:Atpaf1	APN	4	115,648,466 (GRCm39)	missense	probably damaging	1.00
IGL03122:Atpaf1	APN	4	115,648,475 (GRCm39)	missense	probably damaging	1.00
R0396:Atpaf1	UTSW	4	115,642,449 (GRCm39)	missense	possibly damaging	0.58
R1462:Atpaf1	UTSW	4	115,642,150 (GRCm39)	unclassified	probably benign
R1614:Atpaf1	UTSW	4	115,653,954 (GRCm39)	missense	possibly damaging	0.52
R1637:Atpaf1	UTSW	4	115,645,499 (GRCm39)	missense	probably benign	0.00
R2180:Atpaf1	UTSW	4	115,645,557 (GRCm39)	start codon destroyed	probably null	0.03
R4290:Atpaf1	UTSW	4	115,645,556 (GRCm39)	missense	probably benign	0.02
R4293:Atpaf1	UTSW	4	115,645,556 (GRCm39)	missense	probably benign	0.02
R7291:Atpaf1	UTSW	4	115,668,288 (GRCm39)	missense	probably damaging	1.00
R7423:Atpaf1	UTSW	4	115,647,827 (GRCm39)	missense	probably damaging	1.00
R8876:Atpaf1	UTSW	4	115,645,548 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- ACAGTGTAGGATTTGGAGAGATGACTCA -3'
(R):5'- GCATTTGCCATACACACAGGGAGG -3'

Sequencing Primer
(F):5'- CTCAGGAGTGAAGAGAACTTTCTAGC -3'
(R):5'- AGAAAGCCATGCTGTGTCTC -3'

Posted On

2013-11-08