Incidental Mutation 'R2966:Noa1'
ID 264647
Institutional Source Beutler Lab
Gene Symbol Noa1
Ensembl Gene ENSMUSG00000036285
Gene Name nitric oxide associated 1
Synonyms 2610024G14Rik, mAtNOS1
MMRRC Submission 040522-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2966 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 77442029-77457931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77454191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 483 (E483G)
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

DomainStartEndE-ValueType
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: E483G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045948
Gene: ENSMUSG00000036285
AA Change: E483G

DomainStartEndE-ValueType
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Adamts1 A G 16: 85,593,662 (GRCm39) V691A possibly damaging Het
Add1 C A 5: 34,788,058 (GRCm39) D702E probably benign Het
Ap1s1 T C 5: 137,066,357 (GRCm39) D148G probably damaging Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Atp11a A T 8: 12,897,853 (GRCm39) probably null Het
Atp8a1 T C 5: 67,805,049 (GRCm39) D1022G probably benign Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Bnc2 G A 4: 84,211,754 (GRCm39) A300V probably benign Het
Cep250 A G 2: 155,836,798 (GRCm39) K2256E probably benign Het
Cfap300 C T 9: 8,027,175 (GRCm39) R121Q probably damaging Het
Chrna2 T C 14: 66,386,817 (GRCm39) V321A possibly damaging Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Col2a1 A G 15: 97,873,976 (GRCm39) I1402T unknown Het
Ddx43 C A 9: 78,313,661 (GRCm39) Y197* probably null Het
Dyrk2 T A 10: 118,696,242 (GRCm39) K339* probably null Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fgd6 T A 10: 93,880,056 (GRCm39) F303L probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gabra5 T C 7: 57,058,389 (GRCm39) E453G probably damaging Het
Gatd1 T A 7: 140,989,080 (GRCm39) D193V probably damaging Het
Gm6871 T G 7: 41,222,864 (GRCm39) T75P probably benign Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Has2 A G 15: 56,545,533 (GRCm39) L23P probably damaging Het
Lrriq1 A G 10: 103,050,761 (GRCm39) S664P probably benign Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mgam T C 6: 40,745,154 (GRCm39) V1807A possibly damaging Het
Myh1 A G 11: 67,105,410 (GRCm39) K1067E probably damaging Het
Nav2 C T 7: 49,206,780 (GRCm39) T1535I probably damaging Het
Nsd2 G C 5: 34,003,466 (GRCm39) E205D probably benign Het
Pclo T C 5: 14,731,164 (GRCm39) L3222P unknown Het
Pnpla2 C T 7: 141,038,391 (GRCm39) L215F probably damaging Het
Prss35 A G 9: 86,637,635 (GRCm39) D135G probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rab21 T C 10: 115,130,814 (GRCm39) N164S probably benign Het
Rasal1 T A 5: 120,809,685 (GRCm39) L530Q probably damaging Het
Rbm15b A G 9: 106,762,791 (GRCm39) L459P probably damaging Het
Recql A G 6: 142,309,313 (GRCm39) V586A probably benign Het
Rprd2 A T 3: 95,673,745 (GRCm39) probably null Het
Sis T A 3: 72,796,343 (GRCm39) I1813L probably benign Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Sympk T C 7: 18,764,469 (GRCm39) V58A probably damaging Het
Trav7d-4 C T 14: 53,007,584 (GRCm39) Q26* probably null Het
Usp48 G A 4: 137,341,073 (GRCm39) V358M probably damaging Het
Vmn1r39 A C 6: 66,781,715 (GRCm39) I201S possibly damaging Het
Zcchc8 A G 5: 123,858,930 (GRCm39) S22P probably benign Het
Other mutations in Noa1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTTGACCGCATATACATTCATCCG -3'
(R):5'- GCATTAAAGGAGTGTCTGATAACC -3'

Sequencing Primer
(F):5'- CGCATATACATTCATCCGTGAACTG -3'
(R):5'- GGAGTGTCTGATAACCTCTGTTTAAC -3'
Posted On 2015-02-05