Mutagenetix > Incidental Mutation

Incidental Mutation 'R1710:Noa1'

190416

Institutional Source

Beutler Lab

Gene Symbol

Noa1

Ensembl Gene

ENSMUSG00000036285

Gene Name

nitric oxide associated 1

Synonyms

2610024G14Rik, mAtNOS1

MMRRC Submission

039743-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1710 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

77442029-77457931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77457572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 111 (E111G)

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

possibly damaging
Transcript: ENSMUST00000047860
AA Change: E111G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045948
Gene: ENSMUSG00000036285
AA Change: E111G

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

0.1065

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,601,134 (GRCm39)	S249R	possibly damaging	Het
Acadvl	T	A	11: 69,901,181 (GRCm39)	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587 (GRCm39)	T264S	probably benign	Het
Acrv1	C	T	9: 36,605,551 (GRCm39)	Q33*	probably null	Het
Actrt3	T	A	3: 30,653,901 (GRCm39)	N33I	probably damaging	Het
Alyref2	T	C	1: 171,331,168 (GRCm39)		probably benign	Het
Ank2	C	A	3: 126,726,709 (GRCm39)	E3712*	probably null	Het
Ano7	C	A	1: 93,313,346 (GRCm39)	H161Q	probably benign	Het
Arhgap10	C	A	8: 78,085,216 (GRCm39)	E451*	probably null	Het
Arhgap29	T	A	3: 121,801,729 (GRCm39)	Y748N	probably damaging	Het
Arhgap45	C	T	10: 79,853,932 (GRCm39)	Q149*	probably null	Het
Asap2	C	T	12: 21,274,393 (GRCm39)	H371Y	probably damaging	Het
Atp6v1b1	T	C	6: 83,735,372 (GRCm39)	I480T	probably benign	Het
BC034090	T	C	1: 155,101,610 (GRCm39)	D218G	possibly damaging	Het
Brdt	A	T	5: 107,491,450 (GRCm39)	D74V	probably damaging	Het
C4b	A	G	17: 34,962,638 (GRCm39)		probably benign	Het
Card11	T	A	5: 140,888,660 (GRCm39)	K233*	probably null	Het
Catip	T	G	1: 74,401,929 (GRCm39)	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,648,647 (GRCm39)	G247R	probably damaging	Het
Cep97	T	A	16: 55,735,385 (GRCm39)	D471V	probably damaging	Het
Col17a1	A	T	19: 47,659,370 (GRCm39)	L403Q	probably damaging	Het
Crbn	A	G	6: 106,767,906 (GRCm39)	S194P	possibly damaging	Het
Degs1l	A	G	1: 180,878,884 (GRCm39)	M1V	probably null	Het
Dennd10	A	G	19: 60,806,021 (GRCm39)	Y102C	probably damaging	Het
Dhx58	T	A	11: 100,594,400 (GRCm39)	H97L	probably benign	Het
Dnah8	T	C	17: 31,073,914 (GRCm39)	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,404,092 (GRCm39)		probably null	Het
Entpd1	A	T	19: 40,714,680 (GRCm39)	Q263L	probably benign	Het
Entrep1	A	T	19: 23,957,059 (GRCm39)	I317N	probably damaging	Het
Esyt3	T	C	9: 99,218,244 (GRCm39)	I130M	probably benign	Het
Etv1	T	C	12: 38,902,261 (GRCm39)	F264S	probably benign	Het
Fat1	T	C	8: 45,463,519 (GRCm39)	S1354P	probably benign	Het
Fat4	C	A	3: 39,005,304 (GRCm39)	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,010,586 (GRCm39)	V351I	probably damaging	Het
Fmo3	A	G	1: 162,795,356 (GRCm39)	F160L	possibly damaging	Het
Fyb2	T	A	4: 104,861,113 (GRCm39)	D592E	probably damaging	Het
Gjb4	T	C	4: 127,245,663 (GRCm39)	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,673,566 (GRCm39)	G52*	probably null	Het
Gm6401	G	T	14: 41,788,840 (GRCm39)	N76K	probably benign	Het
Gm6871	A	G	7: 41,195,901 (GRCm39)	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,240,081 (GRCm39)	V301G	probably benign	Het
H2bw2	A	C	X: 135,828,216 (GRCm39)	D35A	unknown	Het
Hfm1	A	G	5: 107,028,380 (GRCm39)	F817L	probably damaging	Het
Hfm1	T	C	5: 107,043,869 (GRCm39)	E589G	probably damaging	Het
Hivep2	A	T	10: 14,005,249 (GRCm39)	K616*	probably null	Het
Hmcn1	A	T	1: 150,551,735 (GRCm39)	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,082,565 (GRCm39)	A339E	probably damaging	Het
Insyn2b	T	A	11: 34,354,263 (GRCm39)		probably null	Het
Irx4	T	C	13: 73,415,757 (GRCm39)	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511 (GRCm39)	S758P	probably damaging	Het
Klhdc4	A	T	8: 122,526,226 (GRCm39)	Y304*	probably null	Het
Lama1	A	G	17: 68,060,786 (GRCm39)	I705V	probably benign	Het
Mbd5	A	G	2: 49,147,044 (GRCm39)	N418S	probably benign	Het
Mmp21	C	T	7: 133,279,014 (GRCm39)	V279I	probably damaging	Het
Morc4	A	C	X: 138,755,279 (GRCm39)	C272W	probably damaging	Het
Mrm1	A	T	11: 84,709,518 (GRCm39)	C180S	probably damaging	Het
Ncor1	T	C	11: 62,313,831 (GRCm39)	D103G	probably damaging	Het
Ndrg4	A	G	8: 96,437,314 (GRCm39)	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,035,522 (GRCm39)	V246A	possibly damaging	Het
Nod1	C	A	6: 54,921,044 (GRCm39)	V425F	probably damaging	Het
Nos1	A	T	5: 118,033,984 (GRCm39)	I369F	probably damaging	Het
Nsun5	C	T	5: 135,400,170 (GRCm39)	H98Y	probably damaging	Het
Optn	G	A	2: 5,057,941 (GRCm39)	T76I	possibly damaging	Het
Or14c39	G	A	7: 86,344,318 (GRCm39)	R218H	probably benign	Het
Or4k15c	C	G	14: 50,321,827 (GRCm39)	V104L	probably benign	Het
Or5k1b	A	G	16: 58,581,504 (GRCm39)	F12L	probably benign	Het
Or8d1b	A	G	9: 38,887,202 (GRCm39)	I77V	probably damaging	Het
Or8g28	T	C	9: 39,169,867 (GRCm39)	I37V	probably benign	Het
Or9g19	C	T	2: 85,600,199 (GRCm39)	T18I	probably benign	Het
Oscar	C	T	7: 3,614,855 (GRCm39)	W22*	probably null	Het
Palmd	T	A	3: 116,717,306 (GRCm39)	Y397F	probably damaging	Het
Plk1	A	G	7: 121,768,121 (GRCm39)	D447G	probably damaging	Het
Plscr5	T	A	9: 92,087,581 (GRCm39)	N183K	probably damaging	Het
Polk	T	G	13: 96,625,712 (GRCm39)	D364A	probably damaging	Het
Polr3d	T	C	14: 70,680,450 (GRCm39)	T36A	probably benign	Het
Ppp1r10	A	T	17: 36,237,428 (GRCm39)	R199S	probably damaging	Het
Prkcz	C	T	4: 155,346,969 (GRCm39)	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,102,234 (GRCm39)	L769P	probably damaging	Het
Psg26	A	G	7: 18,213,966 (GRCm39)	V232A	probably damaging	Het
Pth2r	T	C	1: 65,375,997 (GRCm39)	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,566,494 (GRCm39)		probably benign	Het
Reps1	A	T	10: 17,994,698 (GRCm39)	D514V	possibly damaging	Het
Riok3	G	T	18: 12,276,018 (GRCm39)	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,353 (GRCm39)	Q569R	probably damaging	Het
Rorb	G	A	19: 18,937,865 (GRCm39)	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,340 (GRCm39)	M70K	probably damaging	Het
Rsf1	A	T	7: 97,311,556 (GRCm39)	E762V	possibly damaging	Het
S100a2	G	A	3: 90,498,699 (GRCm39)	V67I	probably benign	Het
Skp1	T	A	11: 52,133,442 (GRCm39)	D42E	probably benign	Het
Slc22a4	A	T	11: 53,918,801 (GRCm39)	M1K	probably null	Het
Slc2a9	T	A	5: 38,539,387 (GRCm39)	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,665,075 (GRCm39)	T475A	probably benign	Het
Slc8b1	A	G	5: 120,657,717 (GRCm39)	N60S	probably damaging	Het
Slx4	A	C	16: 3,817,022 (GRCm39)	D66E	probably benign	Het
Smg8	A	T	11: 86,977,113 (GRCm39)	I156N	probably damaging	Het
Snx25	A	T	8: 46,569,244 (GRCm39)	C218S	possibly damaging	Het
Sulf2	T	C	2: 165,920,992 (GRCm39)	I784V	probably benign	Het
Tatdn2	G	T	6: 113,674,888 (GRCm39)	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,445,918 (GRCm39)	D91G	possibly damaging	Het
Tifab	C	A	13: 56,324,433 (GRCm39)	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,200,304 (GRCm39)	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,334,343 (GRCm39)	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,369,667 (GRCm39)	D367E	probably damaging	Het
Txlnb	A	G	10: 17,719,203 (GRCm39)	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,934,895 (GRCm39)		probably null	Het
Vmn2r124	A	T	17: 18,282,187 (GRCm39)		probably benign	Het
Vmn2r2	T	C	3: 64,024,820 (GRCm39)	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Vps13c	T	A	9: 67,818,811 (GRCm39)	S1077R	probably benign	Het
Vsig10	C	T	5: 117,489,719 (GRCm39)	A495V	probably benign	Het
Vwa3a	A	T	7: 120,403,254 (GRCm39)		probably null	Het
Zfhx2	C	A	14: 55,303,455 (GRCm39)	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,611,389 (GRCm39)	D601V	probably damaging	Het
Zfp62	T	C	11: 49,108,510 (GRCm39)	I867T	probably benign	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
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'- AGCGTGCATCATCCTTGG -3'

Posted On

2014-05-14