Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Noa1'

199373

Institutional Source

Beutler Lab

Gene Symbol

Noa1

Ensembl Gene

ENSMUSG00000036285

Gene Name

nitric oxide associated 1

Synonyms

2610024G14Rik, mAtNOS1

MMRRC Submission

039764-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77442029-77457931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77454221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 473 (V473E)

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: V473E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000045948
Gene: ENSMUSG00000036285
AA Change: V473E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (78/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,265,995 (GRCm39)	Q1445K	probably benign	Het
Acacb	A	T	5: 114,328,148 (GRCm39)	M303L	possibly damaging	Het
Actl9	T	C	17: 33,652,096 (GRCm39)	V52A	probably damaging	Het
Adam7	T	C	14: 68,735,899 (GRCm39)	T781A	probably benign	Het
Agpat4	T	C	17: 12,435,615 (GRCm39)	V293A	probably benign	Het
Ank1	T	A	8: 23,601,479 (GRCm39)		probably benign	Het
Atp1a1	C	A	3: 101,492,115 (GRCm39)	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,527,992 (GRCm39)	F172L	probably damaging	Het
Bmp1	A	T	14: 70,723,705 (GRCm39)	D710E	possibly damaging	Het
Cep126	A	T	9: 8,099,762 (GRCm39)	I924N	probably benign	Het
Chek2	G	T	5: 111,019,968 (GRCm39)	A517S	probably benign	Het
Cmbl	A	T	15: 31,588,378 (GRCm39)	E165D	probably damaging	Het
Cntnap3	A	T	13: 64,888,626 (GRCm39)		probably null	Het
Col1a1	A	T	11: 94,835,241 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,600,653 (GRCm39)	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,421,543 (GRCm39)	D203G	probably benign	Het
Cyld	C	T	8: 89,458,295 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,302,455 (GRCm39)	I84F	probably damaging	Het
Dennd3	T	A	15: 73,409,267 (GRCm39)		probably benign	Het
Desi2	A	C	1: 178,084,217 (GRCm39)		probably benign	Het
Dmxl1	T	A	18: 50,026,511 (GRCm39)	L1873*	probably null	Het
Dmxl1	T	A	18: 50,036,055 (GRCm39)	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,370,440 (GRCm39)	N880S	possibly damaging	Het
F10	T	C	8: 13,100,764 (GRCm39)	L214P	probably damaging	Het
F5	G	A	1: 164,001,719 (GRCm39)	V141M	probably damaging	Het
Fam135a	A	T	1: 24,065,734 (GRCm39)	S1022T	possibly damaging	Het
Fam13b	A	T	18: 34,620,187 (GRCm39)	N232K	probably benign	Het
Fyco1	T	C	9: 123,648,157 (GRCm39)	E1259G	probably benign	Het
Gak	A	T	5: 108,724,448 (GRCm39)	D1087E	probably benign	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,962 (GRCm39)		noncoding transcript	Het
Gpr25	A	G	1: 136,187,866 (GRCm39)	V249A	probably benign	Het
Hcn3	T	C	3: 89,055,426 (GRCm39)	H607R	probably damaging	Het
Hdac4	T	A	1: 91,875,257 (GRCm39)	T905S	probably benign	Het
Itgad	T	C	7: 127,804,279 (GRCm39)	S86P	probably benign	Het
Itgb4	G	T	11: 115,879,744 (GRCm39)	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,779,979 (GRCm39)	T284S	probably benign	Het
Klhl22	T	A	16: 17,594,888 (GRCm39)	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mybpc2	C	A	7: 44,163,099 (GRCm39)	V484L	probably benign	Het
Nwd1	C	G	8: 73,393,463 (GRCm39)	S242C	possibly damaging	Het
Or55b10	C	A	7: 102,143,247 (GRCm39)	C245F	probably damaging	Het
Or7e174	A	G	9: 20,012,796 (GRCm39)	H247R	probably damaging	Het
Otof	A	T	5: 30,543,815 (GRCm39)	W535R	probably damaging	Het
Peg3	T	C	7: 6,712,084 (GRCm39)	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,577,529 (GRCm39)	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,994,625 (GRCm39)		probably null	Het
Plce1	G	T	19: 38,705,282 (GRCm39)	A896S	possibly damaging	Het
Prim1	T	C	10: 127,851,193 (GRCm39)	Y26H	probably damaging	Het
Prr12	T	A	7: 44,697,780 (GRCm39)	T712S	unknown	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Ptpdc1	T	C	13: 48,740,021 (GRCm39)	E409G	probably benign	Het
Rabep1	A	G	11: 70,795,467 (GRCm39)	N274S	probably damaging	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rec114	A	G	9: 58,560,389 (GRCm39)	S206P	probably damaging	Het
Rps6ka1	A	T	4: 133,587,381 (GRCm39)	Y531N	probably damaging	Het
Slc28a2	T	C	2: 122,280,239 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 55,561,233 (GRCm39)	H566R	probably benign	Het
Slc9c1	A	G	16: 45,373,291 (GRCm39)	T290A	probably benign	Het
Smarcc1	T	A	9: 110,014,888 (GRCm39)		probably benign	Het
Srp54b	T	A	12: 55,299,544 (GRCm39)		probably null	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Synj1	T	C	16: 90,761,118 (GRCm39)	K710E	probably damaging	Het
Tenm3	T	A	8: 48,763,669 (GRCm39)	D795V	probably damaging	Het
Tgm2	T	C	2: 157,976,277 (GRCm39)	Y149C	probably damaging	Het
Tmem151a	C	A	19: 5,132,895 (GRCm39)	A104S	probably damaging	Het
Top1mt	A	G	15: 75,538,100 (GRCm39)		probably null	Het
Tpgs1	T	A	10: 79,511,428 (GRCm39)	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,851,428 (GRCm39)	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,676,193 (GRCm39)	I197V	probably damaging	Het
Ube3b	A	G	5: 114,525,506 (GRCm39)	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,530,285 (GRCm39)	S164T	probably benign	Het
Zfp607a	G	T	7: 27,577,884 (GRCm39)	C318F	probably 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
R0645:Noa1	UTSW	5	77,457,722 (GRCm39)	missense	probably benign	0.00
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
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'- GACCGCATATACATTCATCCGTGAACT -3'
(R):5'- TCCTATCACTGTAGAAGCTGAGGAGAGA -3'

Sequencing Primer
(F):5'- GGAAGCACAACTCTTTGCTTG -3'
(R):5'- tccagacatacattcaggcac -3'

Posted On

2014-05-23