Mutagenetix > Incidental Mutation

Incidental Mutation 'R0645:Noa1'

57058

Institutional Source

Beutler Lab

Gene Symbol

Noa1

Ensembl Gene

ENSMUSG00000036285

Gene Name

nitric oxide associated 1

Synonyms

2610024G14Rik, mAtNOS1

MMRRC Submission

038830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0645 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

77442029-77457931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77457722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 61 (Y61C)

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: Y61C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045948
Gene: ENSMUSG00000036285
AA Change: Y61C

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: ENSMUST00000150722

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (94/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	G	T	8: 25,162,136 (GRCm39)	Y46*	probably null	Het
Adam26b	A	C	8: 43,973,524 (GRCm39)	C493G	probably damaging	Het
Ak5	A	T	3: 152,359,252 (GRCm39)	L182Q	probably damaging	Het
Akt1s1	T	C	7: 44,498,645 (GRCm39)		probably benign	Het
Amhr2	G	T	15: 102,354,863 (GRCm39)	G133C	probably damaging	Het
Btbd9	A	T	17: 30,743,941 (GRCm39)	L187Q	probably damaging	Het
Ccdc117	A	T	11: 5,484,385 (GRCm39)		probably benign	Het
Ccdc138	A	T	10: 58,411,542 (GRCm39)	I637F	probably damaging	Het
Ccdc162	A	G	10: 41,462,407 (GRCm39)		probably benign	Het
Cdc25b	C	A	2: 131,033,533 (GRCm39)	H157Q	probably benign	Het
Cdon	A	G	9: 35,388,379 (GRCm39)		probably null	Het
Cdt1	G	A	8: 123,298,884 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,816,458 (GRCm39)		probably null	Het
Cfb	T	C	17: 35,078,992 (GRCm39)	K831R	probably benign	Het
Cldn4	C	A	5: 134,975,645 (GRCm39)		probably benign	Het
Cntnap5b	T	C	1: 99,999,767 (GRCm39)		probably benign	Het
Cyp27b1	T	G	10: 126,884,967 (GRCm39)	S77A	probably benign	Het
Dlc1	T	C	8: 37,041,203 (GRCm39)	D1342G	possibly damaging	Het
Dlgap4	A	G	2: 156,603,799 (GRCm39)	H887R	probably damaging	Het
Duox2	A	G	2: 122,123,139 (GRCm39)	I503T	probably damaging	Het
Eml4	T	C	17: 83,770,922 (GRCm39)		probably benign	Het
Ermap	A	G	4: 119,042,888 (GRCm39)	S212P	probably benign	Het
Esrrg	T	A	1: 187,775,538 (GRCm39)	C22S	probably benign	Het
Evx2	T	A	2: 74,488,238 (GRCm39)	Y194F	possibly damaging	Het
Fbn2	T	G	18: 58,191,461 (GRCm39)	D1554A	probably damaging	Het
Flrt1	G	A	19: 7,074,508 (GRCm39)		probably benign	Het
Fndc5	A	G	4: 129,033,630 (GRCm39)		probably benign	Het
Frem1	A	T	4: 82,907,403 (GRCm39)	I837N	probably damaging	Het
Fzd10	G	T	5: 128,679,662 (GRCm39)	A461S	possibly damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Gbp7	A	G	3: 142,243,926 (GRCm39)		probably null	Het
Gm5919	T	A	9: 83,765,436 (GRCm39)	C91S	unknown	Het
Gpr31b	A	T	17: 13,271,093 (GRCm39)	C25*	probably null	Het
Grb10	A	G	11: 11,886,755 (GRCm39)	S505P	probably damaging	Het
Grm4	A	T	17: 27,654,183 (GRCm39)	V542E	probably damaging	Het
Gsta5	T	C	9: 78,206,303 (GRCm39)	I75T	possibly damaging	Het
Hivep3	G	A	4: 119,954,531 (GRCm39)	R949H	possibly damaging	Het
Hycc1	C	T	5: 24,184,506 (GRCm39)	G242D	probably damaging	Het
Invs	A	T	4: 48,407,653 (GRCm39)	M543L	probably benign	Het
Kcnk2	T	C	1: 188,988,927 (GRCm39)		probably null	Het
Kdm6b	A	T	11: 69,295,844 (GRCm39)	S808T	unknown	Het
Klhl30	C	T	1: 91,283,228 (GRCm39)	R277W	probably damaging	Het
Lama1	A	G	17: 68,080,707 (GRCm39)	Q1245R	probably benign	Het
Lingo3	G	T	10: 80,671,169 (GRCm39)	H254N	probably benign	Het
Lzts1	A	T	8: 69,588,392 (GRCm39)	H521Q	possibly damaging	Het
Map3k19	A	C	1: 127,749,919 (GRCm39)	I1144S	possibly damaging	Het
Mast2	A	G	4: 116,165,184 (GRCm39)	S1411P	probably damaging	Het
Mast2	T	C	4: 116,170,043 (GRCm39)		probably benign	Het
Mesp1	G	T	7: 79,442,328 (GRCm39)	S225R	possibly damaging	Het
Micu1	A	G	10: 59,675,503 (GRCm39)	T366A	possibly damaging	Het
Mideas	G	T	12: 84,205,077 (GRCm39)	N834K	possibly damaging	Het
Mknk2	T	C	10: 80,507,742 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,258,199 (GRCm39)	L309P	probably damaging	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myom2	T	A	8: 15,167,698 (GRCm39)	D1094E	probably damaging	Het
Nedd1	T	C	10: 92,527,693 (GRCm39)		probably null	Het
Neu4	T	C	1: 93,950,191 (GRCm39)	L50S	probably damaging	Het
Nr1h4	A	T	10: 89,342,390 (GRCm39)	M30K	probably benign	Het
Nsd3	A	G	8: 26,199,096 (GRCm39)	I1219V	probably benign	Het
Nup188	T	A	2: 30,233,478 (GRCm39)		probably null	Het
Or10ag2	T	A	2: 87,248,612 (GRCm39)	Y71*	probably null	Het
Or5al5	A	G	2: 85,961,378 (GRCm39)	S210P	probably damaging	Het
Or6c208	T	A	10: 129,224,162 (GRCm39)	I220N	possibly damaging	Het
Or6k2	A	T	1: 173,986,920 (GRCm39)	T194S	probably benign	Het
Pbk	G	A	14: 66,051,245 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,487,459 (GRCm39)	T1848M	possibly damaging	Het
Pdzd7	C	T	19: 45,033,914 (GRCm39)	G57R	possibly damaging	Het
Pik3r4	C	A	9: 105,546,386 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,766,433 (GRCm39)	S2153G	probably damaging	Het
Potefam1	C	T	2: 111,044,928 (GRCm39)		probably null	Het
Pphln1	G	A	15: 93,318,192 (GRCm39)	V34M	possibly damaging	Het
Prrc2a	T	C	17: 35,375,308 (GRCm39)	D1114G	probably damaging	Het
Prss16	T	C	13: 22,193,546 (GRCm39)		probably benign	Het
Rtp3	T	C	9: 110,816,168 (GRCm39)	K128E	probably damaging	Het
Scn3a	T	A	2: 65,355,194 (GRCm39)	I241F	possibly damaging	Het
Setd1a	G	A	7: 127,386,382 (GRCm39)	V336I	probably damaging	Het
Sfpq	A	G	4: 126,916,762 (GRCm39)	I320V	possibly damaging	Het
Skint5	A	T	4: 113,620,679 (GRCm39)	D678E	unknown	Het
Slc12a9	G	A	5: 137,313,638 (GRCm39)	P774S	probably benign	Het
Slc25a54	C	G	3: 109,019,481 (GRCm39)	L362V	possibly damaging	Het
Smarcd1	A	G	15: 99,605,267 (GRCm39)		probably null	Het
Spata31e5	T	A	1: 28,816,011 (GRCm39)	N674Y	probably damaging	Het
Suco	A	T	1: 161,661,683 (GRCm39)	M916K	probably damaging	Het
Tiam2	T	C	17: 3,564,973 (GRCm39)	S1404P	possibly damaging	Het
Topors	T	C	4: 40,260,333 (GRCm39)	T984A	unknown	Het
Trabd2b	A	T	4: 114,443,767 (GRCm39)	K308M	probably damaging	Het
Trmo	A	T	4: 46,377,083 (GRCm39)		probably benign	Het
Trpc3	A	T	3: 36,725,654 (GRCm39)	D107E	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uggt2	A	C	14: 119,295,010 (GRCm39)	Y539D	probably benign	Het
Wwc2	T	G	8: 48,353,674 (GRCm39)		probably benign	Het
Zdbf2	T	A	1: 63,344,109 (GRCm39)	D829E	possibly damaging	Het

Other mutations in Noa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02119:Noa1	APN	5	77,455,426 (GRCm39)	missense	probably benign
IGL02850:Noa1	APN	5	77,442,338 (GRCm39)	missense	probably benign	0.14
R0149:Noa1	UTSW	5	77,445,020 (GRCm39)	nonsense	probably null
R0361:Noa1	UTSW	5	77,445,020 (GRCm39)	nonsense	probably null
R1226:Noa1	UTSW	5	77,455,402 (GRCm39)	missense	possibly damaging	0.82
R1710:Noa1	UTSW	5	77,457,572 (GRCm39)	missense	possibly damaging	0.49
R1721:Noa1	UTSW	5	77,455,428 (GRCm39)	missense	probably benign	0.00
R1732:Noa1	UTSW	5	77,454,221 (GRCm39)	missense	probably benign	0.01
R2061:Noa1	UTSW	5	77,452,034 (GRCm39)	missense	possibly damaging	0.64
R2262:Noa1	UTSW	5	77,457,651 (GRCm39)	nonsense	probably null
R2965:Noa1	UTSW	5	77,454,191 (GRCm39)	missense	possibly damaging	0.79
R2966:Noa1	UTSW	5	77,454,191 (GRCm39)	missense	possibly damaging	0.79
R4405:Noa1	UTSW	5	77,454,219 (GRCm39)	missense	probably benign	0.00
R4664:Noa1	UTSW	5	77,447,600 (GRCm39)	missense	probably benign	0.31
R4849:Noa1	UTSW	5	77,454,179 (GRCm39)	missense	possibly damaging	0.61
R4920:Noa1	UTSW	5	77,454,334 (GRCm39)	splice site	probably null
R5005:Noa1	UTSW	5	77,456,873 (GRCm39)	missense	probably damaging	1.00
R5325:Noa1	UTSW	5	77,452,042 (GRCm39)	missense	probably damaging	1.00
R6112:Noa1	UTSW	5	77,457,593 (GRCm39)	missense	probably benign	0.01
R6254:Noa1	UTSW	5	77,457,516 (GRCm39)	missense	probably benign	0.12
R7659:Noa1	UTSW	5	77,457,237 (GRCm39)	missense	not run
R7810:Noa1	UTSW	5	77,457,071 (GRCm39)	missense	probably damaging	0.99
R7879:Noa1	UTSW	5	77,445,044 (GRCm39)	missense	probably benign	0.01
R7911:Noa1	UTSW	5	77,457,677 (GRCm39)	missense	probably damaging	1.00
R9123:Noa1	UTSW	5	77,457,038 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TCACAAGCTCCAGGTACTGATCGC -3'
(R):5'- TCGAGTTTCAGAGCTGTCATCGC -3'

Sequencing Primer
(F):5'- AGGTACTGATCGCGGCTTAC -3'
(R):5'- GCACTGTTGGACAGTTCCC -3'

Posted On

2013-07-11