Incidental Mutation 'R1226:Noa1'
ID 152227
Institutional Source Beutler Lab
Gene Symbol Noa1
Ensembl Gene ENSMUSG00000036285
Gene Name nitric oxide associated 1
Synonyms 2610024G14Rik, mAtNOS1
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 77442029-77457931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77455402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 438 (V438A)
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: V438A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045948
Gene: ENSMUSG00000036285
AA Change: V438A

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: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q 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
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'- AGACCTTTACTGCCGTTGCTAGTTTG -3'
(R):5'- AGCTGTCTATGTACCTTGGGTGTACTAC -3'

Sequencing Primer
(F):5'- GGGTTTCCAAACAATAGTAACCTTTC -3'
(R):5'- agcattagaaaagttgagcacc -3'
Posted On 2014-01-29