Mutagenetix > Incidental Mutations

Incidental Mutation 'R7603:Ndufa12'

588122

Institutional Source

Beutler Lab

Gene Symbol

Ndufa12

Ensembl Gene

ENSMUSG00000020022

Gene Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94198720-94221443 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94220779 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 123 (A123V)

Ref Sequence

ENSEMBL: ENSMUSP00000136313 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020209
AA Change: A119V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020209
Gene: ENSMUSG00000020022
AA Change: A119V

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

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 benign
Transcript: ENSMUST00000179990
AA Change: A123V

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136313
Gene: ENSMUSG00000020022
AA Change: A123V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably damaging	Het

Other mutations in Ndufa12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4280001:Ndufa12	UTSW	10	94199132	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- ACCTGCCTTCAGTTAGAGACTTAG -3'
(R):5'- GTGAACGCACAAGACACTGC -3'

Sequencing Primer
(F):5'- GCCTTCAGTTAGAGACTTAGTAACAG -3'
(R):5'- GCACAAGACACTGCTAGGTC -3'

Posted On

2019-10-24