Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00792:Atp5pd'

13310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp5pd

Ensembl Gene

ENSMUSG00000034566

Gene Name

ATP synthase peripheral stalk subunit d

Synonyms

0610009D10Rik, Atp5h

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

IGL00792

Quality Score

Status

Chromosome

Chromosomal Location

115306517-115310775 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 115308675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043931] [ENSMUST00000073791] [ENSMUST00000103035] [ENSMUST00000106533] [ENSMUST00000106537] [ENSMUST00000180072] [ENSMUST00000137754]

AlphaFold

Q9DCX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000043931
AA Change: F70S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046256
Gene: ENSMUSG00000034566
AA Change: F70S

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	161	2.7e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000073791
AA Change: F70S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086072
Gene: ENSMUSG00000034566
AA Change: F70S

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	161	2.7e-77	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000103035

SMART Domains

Protein: ENSMUSP00000099324
Gene: ENSMUSG00000016940

Domain	Start	End	E-Value	Type
low complexity region	8	43	N/A	INTRINSIC
low complexity region	46	71	N/A	INTRINSIC
BTB	72	175	3.45e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106533

SMART Domains

Protein: ENSMUSP00000102143
Gene: ENSMUSG00000016940

Domain	Start	End	E-Value	Type
low complexity region	8	43	N/A	INTRINSIC
low complexity region	46	71	N/A	INTRINSIC
BTB	72	175	3.45e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106537
AA Change: F70S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102147
Gene: ENSMUSG00000034566
AA Change: F70S

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	3	160	5.6e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123345

SMART Domains

Protein: ENSMUSP00000115862
Gene: ENSMUSG00000016940

Domain	Start	End	E-Value	Type
low complexity region	4	39	N/A	INTRINSIC
low complexity region	42	67	N/A	INTRINSIC
BTB	68	171	3.45e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137563

Predicted Effect

probably damaging
Transcript: ENSMUST00000180072
AA Change: F70S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137071
Gene: ENSMUSG00000034566
AA Change: F70S

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	161	2.7e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000137754
AA Change: F70S

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

SMART Domains

Protein: ENSMUSP00000121240
Gene: ENSMUSG00000034566
AA Change: F70S

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	138	1.8e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141474

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,228,790 (GRCm39)	I346V	probably benign	Het
Actl7a	A	T	4: 56,743,944 (GRCm39)	Y157F	possibly damaging	Het
Adcy9	A	G	16: 4,106,403 (GRCm39)	F904L	probably damaging	Het
Ap1m1	A	G	8: 73,009,599 (GRCm39)	D369G	possibly damaging	Het
Atp23	A	T	10: 126,736,969 (GRCm39)		probably null	Het
Btf3l4	G	A	4: 108,674,056 (GRCm39)	S153L	probably benign	Het
Carf	G	T	1: 60,165,168 (GRCm39)	V117L	possibly damaging	Het
Cntnap1	C	A	11: 101,069,792 (GRCm39)	N290K	probably benign	Het
Dgkb	G	A	12: 38,264,388 (GRCm39)		probably null	Het
Dmbt1	T	A	7: 130,699,337 (GRCm39)	C989S	possibly damaging	Het
Epb41l1	C	T	2: 156,366,939 (GRCm39)	R591C	probably damaging	Het
Fam219a	A	G	4: 41,521,684 (GRCm39)	V74A	probably benign	Het
Frrs1	T	A	3: 116,678,944 (GRCm39)		probably null	Het
Gm13547	A	T	2: 29,653,417 (GRCm39)	D85V	probably damaging	Het
Hipk1	G	T	3: 103,685,476 (GRCm39)	S46R	possibly damaging	Het
Ifih1	T	A	2: 62,476,214 (GRCm39)	R21W	probably damaging	Het
Ift43	A	T	12: 86,186,840 (GRCm39)	Q87L	probably null	Het
Itprid2	C	T	2: 79,487,807 (GRCm39)	A630V	probably benign	Het
Kcnn1	G	A	8: 71,307,360 (GRCm39)	L178F	probably benign	Het
Kel	G	T	6: 41,678,946 (GRCm39)	N172K	probably damaging	Het
Krtap3-2	A	T	11: 99,447,372 (GRCm39)	Y85*	probably null	Het
Lrrc49	A	G	9: 60,595,121 (GRCm39)	S8P	probably damaging	Het
Med23	T	C	10: 24,752,902 (GRCm39)	I20T	possibly damaging	Het
Pde4d	A	G	13: 110,071,929 (GRCm39)	K364E	possibly damaging	Het
Ppp2r3d	T	C	9: 101,088,500 (GRCm39)	K608E	possibly damaging	Het
Robo4	C	T	9: 37,319,507 (GRCm39)	L586F	probably damaging	Het
Rprd2	A	G	3: 95,692,416 (GRCm39)	S191P	probably benign	Het
Samhd1	A	T	2: 156,962,468 (GRCm39)	H242Q	probably damaging	Het
Slc30a9	T	A	5: 67,499,452 (GRCm39)	N283K	probably damaging	Het
Slc4a9	T	C	18: 36,672,649 (GRCm39)		probably benign	Het
Stk36	G	T	1: 74,650,276 (GRCm39)	L269F	probably benign	Het
Thop1	T	A	10: 80,914,433 (GRCm39)	L240*	probably null	Het
Tmem52b	T	A	6: 129,493,704 (GRCm39)	S106T	probably damaging	Het
Ttn	T	A	2: 76,555,970 (GRCm39)	D30345V	probably damaging	Het
Vtcn1	T	C	3: 100,795,663 (GRCm39)	V210A	probably damaging	Het
Zfp568	A	G	7: 29,714,497 (GRCm39)	R124G	probably benign	Het

Other mutations in Atp5pd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02680:Atp5pd	APN	11	115,306,840 (GRCm39)	critical splice donor site	probably null
IGL03212:Atp5pd	APN	11	115,306,597 (GRCm39)	missense	probably damaging	0.99
R0129:Atp5pd	UTSW	11	115,308,744 (GRCm39)	missense	probably damaging	0.96
R2566:Atp5pd	UTSW	11	115,306,864 (GRCm39)	splice site	probably null
R5283:Atp5pd	UTSW	11	115,306,611 (GRCm39)	missense	probably damaging	1.00
R8103:Atp5pd	UTSW	11	115,306,851 (GRCm39)	missense	possibly damaging	0.88
R8270:Atp5pd	UTSW	11	115,307,698 (GRCm39)	missense	probably damaging	1.00
R8734:Atp5pd	UTSW	11	115,307,689 (GRCm39)	missense	possibly damaging	0.60
R9232:Atp5pd	UTSW	11	115,309,221 (GRCm39)	missense	probably benign	0.36

Posted On

2012-12-06