Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02119:Noa1'

280529

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Noa1

Ensembl Gene

ENSMUSG00000036285

Gene Name

nitric oxide associated 1

Synonyms

2610024G14Rik, mAtNOS1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

77294182-77310084 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77307579 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 430 (Q430L)

Ref Sequence

ENSEMBL: ENSMUSP00000045948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031167] [ENSMUST00000047860]

AlphaFold

Q9JJG9

Predicted Effect

probably benign
Transcript: ENSMUST00000031167

SMART Domains

Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
Pfam:RNA_pol_Rpb2_1	38	442	2.5e-69	PFAM
Pfam:RNA_pol_Rpb2_2	201	394	3.7e-57	PFAM
Pfam:RNA_pol_Rpb2_3	468	532	6.1e-25	PFAM
Pfam:RNA_pol_Rpb2_4	567	629	7.4e-27	PFAM
Pfam:RNA_pol_Rpb2_5	653	700	1.6e-22	PFAM
Pfam:RNA_pol_Rpb2_6	707	1080	4.5e-129	PFAM
Pfam:RNA_pol_Rpb2_7	1082	1174	3.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047860
AA Change: Q430L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045948
Gene: ENSMUSG00000036285
AA Change: Q430L

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
coiled coil region	83	125	N/A	INTRINSIC
low complexity region	224	238	N/A	INTRINSIC
Pfam:MMR_HSR1	342	526	6.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150722

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being exported to the mitochondrion. The encoded protein is required for oxygen-dependent regulation of mitochondrial respiratory complexes and for mitochondrial protein synthesis. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis associated with developmental retardation, decreased cell proliferation and apoptosis, increased cell necrosis, and abnormal mitochondrial morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,328,000		probably null	Het
Acsbg2	T	C	17: 56,868,459		probably benign	Het
Ap3b1	T	C	13: 94,462,403	V495A	probably benign	Het
Astn1	T	C	1: 158,511,154		probably benign	Het
Bora	A	G	14: 99,053,538	D94G	probably damaging	Het
Bpifb9b	G	T	2: 154,313,624	V348L	possibly damaging	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,390,064	I372S	probably damaging	Het
Dennd2c	T	A	3: 103,137,243	V380D	probably damaging	Het
Fat4	C	T	3: 38,982,939	A3580V	probably benign	Het
Filip1	A	G	9: 79,818,266	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,512	E1105K	probably damaging	Het
Gbp4	T	A	5: 105,121,042	E415V	probably benign	Het
Gdap1l1	T	A	2: 163,453,668	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,588,610		probably null	Het
Gsn	G	T	2: 35,302,495	R485L	probably damaging	Het
Havcr1	A	G	11: 46,775,493	Y261C	probably damaging	Het
Maneal	A	T	4: 124,859,167	I229N	probably benign	Het
Med24	A	T	11: 98,728,835	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,747,992		probably benign	Het
Olfr1099	T	C	2: 86,959,183	I92V	probably benign	Het
Olfr365	C	A	2: 37,201,269	S9R	possibly damaging	Het
Olfr74	T	A	2: 87,974,410	N85I	probably benign	Het
Olfr834	T	C	9: 18,988,612	V208A	probably benign	Het
Pde3a	T	A	6: 141,459,803	S460R	probably damaging	Het
Pdzd8	T	C	19: 59,300,490	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,272,571	I1989N	probably damaging	Het
Poldip2	T	A	11: 78,517,908	F200I	probably damaging	Het
Prodh2	T	C	7: 30,506,504	V208A	probably damaging	Het
Ranbp10	T	C	8: 105,827,003	D89G	probably damaging	Het
Rbm33	T	A	5: 28,339,017	S90R	probably damaging	Het
Slc44a4	A	C	17: 34,928,661	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,228,670	I174F	probably damaging	Het
Smim17	T	C	7: 6,427,161		probably benign	Het
Tln1	T	C	4: 43,546,760	E872G	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733	L625S	probably damaging	Het
Vmn2r59	A	G	7: 42,046,169	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Whrn	T	G	4: 63,435,487	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,763,895	V399A	probably benign	Het

Other mutations in Noa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02850:Noa1	APN	5	77294491	missense	probably benign	0.14
R0149:Noa1	UTSW	5	77297173	nonsense	probably null
R0361:Noa1	UTSW	5	77297173	nonsense	probably null
R0645:Noa1	UTSW	5	77309875	missense	probably benign	0.00
R1226:Noa1	UTSW	5	77307555	missense	possibly damaging	0.82
R1710:Noa1	UTSW	5	77309725	missense	possibly damaging	0.49
R1721:Noa1	UTSW	5	77307581	missense	probably benign	0.00
R1732:Noa1	UTSW	5	77306374	missense	probably benign	0.01
R2061:Noa1	UTSW	5	77304187	missense	possibly damaging	0.64
R2262:Noa1	UTSW	5	77309804	nonsense	probably null
R2965:Noa1	UTSW	5	77306344	missense	possibly damaging	0.79
R2966:Noa1	UTSW	5	77306344	missense	possibly damaging	0.79
R4405:Noa1	UTSW	5	77306372	missense	probably benign	0.00
R4664:Noa1	UTSW	5	77299753	missense	probably benign	0.31
R4849:Noa1	UTSW	5	77306332	missense	possibly damaging	0.61
R4920:Noa1	UTSW	5	77306487	splice site	probably null
R5005:Noa1	UTSW	5	77309026	missense	probably damaging	1.00
R5325:Noa1	UTSW	5	77304195	missense	probably damaging	1.00
R6112:Noa1	UTSW	5	77309746	missense	probably benign	0.01
R6254:Noa1	UTSW	5	77309669	missense	probably benign	0.12
R7659:Noa1	UTSW	5	77309390	missense	not run
R7810:Noa1	UTSW	5	77309224	missense	probably damaging	0.99
R7879:Noa1	UTSW	5	77297197	missense	probably benign	0.01
R7911:Noa1	UTSW	5	77309830	missense	probably damaging	1.00
R9123:Noa1	UTSW	5	77309191	missense	possibly damaging	0.87

Posted On

2015-04-16