Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01739:Ndufa9'

105811

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufa9

Ensembl Gene

ENSMUSG00000000399

Gene Name

NADH:ubiquinone oxidoreductase subunit A9

Synonyms

1010001N11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01739

Quality Score

Status

Chromosome

Chromosomal Location

126798826-126826107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126821777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 66 (G66D)

Ref Sequence

ENSEMBL: ENSMUSP00000144904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088194] [ENSMUST00000205002]

AlphaFold

Q9DC69

Predicted Effect

probably damaging
Transcript: ENSMUST00000088194
AA Change: G62D

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

SMART Domains

Protein: ENSMUSP00000085523
Gene: ENSMUSG00000000399
AA Change: G62D

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	46	55	N/A	INTRINSIC
Pfam:NmrA	56	204	1.9e-13	PFAM
Pfam:Epimerase	56	264	4.7e-11	PFAM
Pfam:3Beta_HSD	57	200	1.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200890

Predicted Effect

probably damaging
Transcript: ENSMUST00000205002
AA Change: G66D

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

SMART Domains

Protein: ENSMUSP00000144904
Gene: ENSMUSG00000000399
AA Change: G66D

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	46	55	N/A	INTRINSIC
Pfam:NmrA	56	204	1.9e-13	PFAM
Pfam:Epimerase	56	264	4.7e-11	PFAM
Pfam:3Beta_HSD	57	200	1.4e-11	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	G	T	7: 43,906,210 (GRCm39)	Y88*	probably null	Het
Aftph	T	C	11: 20,676,994 (GRCm39)	D205G	probably damaging	Het
Arhgap31	T	C	16: 38,423,793 (GRCm39)	I758V	probably benign	Het
Atg9b	A	G	5: 24,591,513 (GRCm39)		probably null	Het
Auts2	T	C	5: 131,469,056 (GRCm39)	T754A	probably benign	Het
Birc6	A	G	17: 74,966,216 (GRCm39)	M4048V	probably benign	Het
Cacna1s	T	C	1: 136,024,870 (GRCm39)		probably null	Het
Cmpk1	C	T	4: 114,822,121 (GRCm39)	A143T	probably benign	Het
Cstf2t	C	A	19: 31,060,536 (GRCm39)	P24Q	probably damaging	Het
Cwc22	A	G	2: 77,757,640 (GRCm39)	S163P	probably damaging	Het
Dnaaf11	T	A	15: 66,321,326 (GRCm39)	M272L	probably benign	Het
Faf1	T	A	4: 109,534,278 (GRCm39)		probably benign	Het
Focad	T	A	4: 88,289,043 (GRCm39)	I1279N	unknown	Het
Gp5	T	C	16: 30,127,459 (GRCm39)	D405G	possibly damaging	Het
Guf1	C	A	5: 69,718,501 (GRCm39)	N213K	probably damaging	Het
Hacd4	T	C	4: 88,341,285 (GRCm39)	T145A	probably damaging	Het
Itga11	T	C	9: 62,681,399 (GRCm39)	M1005T	probably benign	Het
Mast4	T	A	13: 102,910,781 (GRCm39)	T621S	probably damaging	Het
Mme	T	C	3: 63,247,534 (GRCm39)	M273T	possibly damaging	Het
Mos	A	G	4: 3,871,816 (GRCm39)		probably benign	Het
Msln	C	T	17: 25,969,004 (GRCm39)		probably null	Het
Mtg1	A	T	7: 139,730,149 (GRCm39)	Q315L	probably benign	Het
Myh1	A	G	11: 67,105,354 (GRCm39)	E1048G	probably damaging	Het
Nr1i2	T	C	16: 38,086,333 (GRCm39)	K44R	probably benign	Het
Nup155	T	A	15: 8,165,272 (GRCm39)	M636K	probably benign	Het
Or12d12	A	T	17: 37,610,673 (GRCm39)	F213L	probably benign	Het
Or5b96	T	A	19: 12,867,513 (GRCm39)	T143S	probably benign	Het
Pde4b	A	T	4: 102,458,832 (GRCm39)	Q496L	probably damaging	Het
Plekha6	T	C	1: 133,187,869 (GRCm39)	V130A	probably benign	Het
Prag1	A	G	8: 36,569,834 (GRCm39)	N139S	probably benign	Het
Rbpj-ps3	T	C	6: 46,507,694 (GRCm39)	T19A	probably benign	Het
Scai	A	G	2: 38,984,803 (GRCm39)		probably benign	Het
Slc12a7	A	G	13: 73,947,733 (GRCm39)	T617A	probably benign	Het
Slc15a2	T	C	16: 36,576,592 (GRCm39)	M481V	probably benign	Het
Snx5	A	G	2: 144,112,325 (GRCm39)	L8P	probably benign	Het
Spg11	C	T	2: 121,945,152 (GRCm39)	A123T	probably damaging	Het
Supt6	T	A	11: 78,113,013 (GRCm39)	I977F	probably damaging	Het
Tjp3	T	C	10: 81,114,490 (GRCm39)	D442G	probably benign	Het
Ttc21b	A	T	2: 66,068,200 (GRCm39)	N275K	probably benign	Het
Vmn2r50	A	G	7: 9,771,364 (GRCm39)	F779S	probably damaging	Het
Xirp2	A	T	2: 67,345,482 (GRCm39)	R2574S	probably benign	Het
Zbp1	T	C	2: 173,054,038 (GRCm39)	E161G	possibly damaging	Het

Other mutations in Ndufa9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02167:Ndufa9	APN	6	126,821,748 (GRCm39)	splice site	probably benign
IGL02206:Ndufa9	APN	6	126,821,366 (GRCm39)	nonsense	probably null
IGL03186:Ndufa9	APN	6	126,821,855 (GRCm39)	missense	possibly damaging	0.47
IGL03356:Ndufa9	APN	6	126,821,813 (GRCm39)	missense	possibly damaging	0.89
R0310:Ndufa9	UTSW	6	126,804,495 (GRCm39)	splice site	probably benign
R1118:Ndufa9	UTSW	6	126,799,031 (GRCm39)	missense	probably damaging	1.00
R1119:Ndufa9	UTSW	6	126,799,031 (GRCm39)	missense	probably damaging	1.00
R1714:Ndufa9	UTSW	6	126,799,154 (GRCm39)	critical splice acceptor site	probably null
R2207:Ndufa9	UTSW	6	126,821,772 (GRCm39)	missense	probably damaging	1.00
R2483:Ndufa9	UTSW	6	126,821,362 (GRCm39)	missense	possibly damaging	0.48
R3617:Ndufa9	UTSW	6	126,826,071 (GRCm39)	unclassified	probably benign
R3623:Ndufa9	UTSW	6	126,821,362 (GRCm39)	missense	possibly damaging	0.48
R4619:Ndufa9	UTSW	6	126,804,498 (GRCm39)	splice site	probably null
R4855:Ndufa9	UTSW	6	126,804,505 (GRCm39)	nonsense	probably null
R4931:Ndufa9	UTSW	6	126,813,283 (GRCm39)	missense	probably damaging	1.00
R4965:Ndufa9	UTSW	6	126,799,026 (GRCm39)	missense	probably benign	0.01
R5109:Ndufa9	UTSW	6	126,809,520 (GRCm39)	splice site	probably null
R7373:Ndufa9	UTSW	6	126,811,421 (GRCm39)	missense	probably damaging	1.00
R9178:Ndufa9	UTSW	6	126,826,050 (GRCm39)	missense	probably benign
Z1176:Ndufa9	UTSW	6	126,821,778 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21