Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4280001:Ndufa12'

554423

Institutional Source

Beutler Lab

Gene Symbol

Ndufa12

Ensembl Gene

ENSMUSG00000020022

Gene Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12

Synonyms

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

PIT4280001 (G1)

Quality Score

126.008

Status

Not validated

Chromosome

Chromosomal Location

94198720-94221443 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 94199132 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020209] [ENSMUST00000092213] [ENSMUST00000099343] [ENSMUST00000105290] [ENSMUST00000135292] [ENSMUST00000179990]

Predicted Effect

probably null
Transcript: ENSMUST00000020209

SMART Domains

Protein: ENSMUSP00000020209
Gene: ENSMUSG00000020022

Domain	Start	End	E-Value	Type
Pfam:NDUFA12	36	141	2.1e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092213

SMART Domains

Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897

Domain	Start	End	E-Value	Type
ZnF_C4	98	169	3.18e-38	SMART
HOLI	382	548	4.94e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099343

SMART Domains

Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897

Domain	Start	End	E-Value	Type
ZnF_C4	98	169	3.18e-38	SMART
HOLI	382	548	4.94e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105290

SMART Domains

Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897

Domain	Start	End	E-Value	Type
ZnF_C4	98	169	3.18e-38	SMART
HOLI	382	548	4.94e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135292

SMART Domains

Protein: ENSMUSP00000119625
Gene: ENSMUSG00000020022

Domain	Start	End	E-Value	Type
Pfam:NDUFA12	36	85	1.3e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000179990

SMART Domains

Protein: ENSMUSP00000136313
Gene: ENSMUSG00000020022

Domain	Start	End	E-Value	Type
Pfam:NDUFA12	40	143	1.4e-32	PFAM

Coding Region Coverage

1x: 93.1%
3x: 90.9%
10x: 85.5%
20x: 73.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	A	G	11: 83,440,834	D161G	probably damaging	Het
2810474O19Rik	T	G	6: 149,325,525	I23S	probably benign	Het
Acer2	C	T	4: 86,887,083	L95F	probably damaging	Het
Adam15	C	T	3: 89,343,978		probably null	Het
Bmi1	T	A	2: 18,683,009	Y98*	probably null	Het
Cdon	T	C	9: 35,486,935	C983R	probably damaging	Het
Col12a1	T	C	9: 79,678,105	R1297G	probably damaging	Het
Cpd	A	T	11: 76,791,024	M1132K	probably benign	Het
Dnah17	T	A	11: 118,098,582	R1267W	possibly damaging	Het
Dnah9	G	A	11: 66,005,013	A2512V	probably benign	Het
Eri3	G	A	4: 117,582,634	G175D	probably damaging	Het
Fbxo9	C	A	9: 78,087,511	W244L	probably damaging	Het
Fgfr3	A	T	5: 33,732,232	H343L	probably benign	Het
Fmnl2	G	A	2: 53,118,196	A803T	unknown	Het
Fmnl3	A	G	15: 99,321,253		probably null	Het
Fth1	C	A	19: 9,984,609	A104E	probably damaging	Het
Gcm1	T	C	9: 78,059,633	Y45H	probably damaging	Het
Gm5157	C	G	7: 21,185,082	G179R	probably damaging	Het
Gpr179	A	G	11: 97,344,115	I463T	probably damaging	Het
Gpr35	T	C	1: 92,982,634	Y23H	probably damaging	Het
Inpp4b	C	T	8: 82,034,417	H647Y	probably benign	Het
Kif6	A	T	17: 49,755,120	K436M	probably benign	Het
Lacc1	T	A	14: 77,035,077	Q93L	probably damaging	Het
Lamc1	T	C	1: 153,243,471	R801G	probably damaging	Het
Lrp2bp	T	G	8: 46,023,011	V263G	probably damaging	Het
Maats1	C	T	16: 38,332,773	V160I	probably benign	Het
Magi3	T	A	3: 104,054,352	K453N	probably damaging	Het
Mfsd6	T	A	1: 52,660,880	Y703F	probably benign	Het
Mms22l	A	G	4: 24,581,149	T820A	probably benign	Het
Nlrp12	A	T	7: 3,241,433	C150S	possibly damaging	Het
Noc4l	G	A	5: 110,651,439	T159I	probably benign	Het
Olfml2b	T	A	1: 170,647,736	C77S	probably damaging	Het
Olfr1259	A	T	2: 89,943,743	I124N	probably damaging	Het
Olfr460	C	A	6: 40,571,716	T110K	probably damaging	Het
Pdzd2	A	G	15: 12,399,288	V784A	probably damaging	Het
Pip5kl1	A	T	2: 32,583,458	Y369F	probably benign	Het
Pkdrej	A	T	15: 85,819,935	I600N	probably benign	Het
Psg19	T	C	7: 18,796,906	I108V	probably damaging	Het
Pxdn	G	A	12: 29,995,328	V539M	probably damaging	Het
Rsbn1l	T	A	5: 20,919,655	H383L	probably damaging	Het
Scamp2	A	T	9: 57,580,793	N118I	probably damaging	Het
Scn2a	T	C	2: 65,715,730	V879A	probably damaging	Het
Scn8a	G	A	15: 100,957,489	E172K	probably damaging	Het
Slc16a6	C	T	11: 109,458,593	C214Y	possibly damaging	Het
Stag1	A	G	9: 100,942,716	T922A	possibly damaging	Het
Svs1	A	T	6: 48,987,120	M21L	probably benign	Het
Tarbp1	T	C	8: 126,430,847	H1307R	probably damaging	Het
Tut1	T	G	19: 8,959,262	V150G	probably benign	Het
Ubr2	G	A	17: 46,944,863	R1371W	probably damaging	Het
Vmn2r124	A	G	17: 18,063,225	N394D	probably benign	Het
Vmn2r63	T	C	7: 42,903,985	T616A	probably damaging	Het
Zp3	G	A	5: 135,984,464	V217M	possibly damaging	Het

Other mutations in Ndufa12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1455:Ndufa12	UTSW	10	94203314	missense	probably benign	0.22
R1700:Ndufa12	UTSW	10	94199993	missense	probably damaging	0.99
R2067:Ndufa12	UTSW	10	94220707	missense	probably damaging	0.99
R4457:Ndufa12	UTSW	10	94220818	missense	probably damaging	1.00
R4790:Ndufa12	UTSW	10	94220758	missense	probably benign	0.02
R7603:Ndufa12	UTSW	10	94220779	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TTAGGAAGACACCAACCTGTACTG -3'
(R):5'- ATTACACCCCAGGACTCGAG -3'

Sequencing Primer
(F):5'- AGATAATCCTCCCTGCGCG -3'
(R):5'- TAGCACCTGCGTCACAGCTC -3'

Posted On

2019-06-07