Incidental Mutation 'R4405:Noa1'
ID 327606
Institutional Source Beutler Lab
Gene Symbol Noa1
Ensembl Gene ENSMUSG00000036285
Gene Name nitric oxide associated 1
Synonyms 2610024G14Rik, mAtNOS1
MMRRC Submission 041134-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4405 (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 T at 77454219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 474 (S474T)
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 probably benign
Transcript: ENSMUST00000047860
AA Change: S474T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045948
Gene: ENSMUSG00000036285
AA Change: S474T

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: 97.2%
  • 20x: 95.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 C T 8: 95,763,536 (GRCm39) A279V probably benign Het
Aggf1 G A 13: 95,508,102 (GRCm39) P88L probably benign Het
Asb18 T C 1: 89,896,411 (GRCm39) T210A probably benign Het
Cd8b1 C T 6: 71,303,006 (GRCm39) S27L possibly damaging Het
Cfap43 C T 19: 47,728,236 (GRCm39) S1507N possibly damaging Het
Col12a1 A T 9: 79,547,247 (GRCm39) probably null Het
Col19a1 G A 1: 24,573,190 (GRCm39) T194M unknown Het
Cpb1 T A 3: 20,317,733 (GRCm39) T237S probably benign Het
Cubn G A 2: 13,470,841 (GRCm39) T517M probably damaging Het
Dnah6 T C 6: 73,106,274 (GRCm39) N1769S probably benign Het
Dnm1 A G 2: 32,225,984 (GRCm39) I365T probably damaging Het
E2f5 T A 3: 14,668,823 (GRCm39) D238E probably benign Het
Etv6 A G 6: 134,210,497 (GRCm39) E115G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gapvd1 C T 2: 34,618,747 (GRCm39) V209I probably damaging Het
Gbp8 G A 5: 105,198,928 (GRCm39) probably benign Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Grb14 T C 2: 64,783,966 (GRCm39) N54D probably damaging Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
Herc2 T A 7: 55,820,225 (GRCm39) L2849Q probably damaging Het
Hsd17b4 G T 18: 50,261,381 (GRCm39) probably benign Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Iqcd A T 5: 120,740,485 (GRCm39) E272V probably damaging Het
Itih2 A T 2: 10,111,548 (GRCm39) Y463* probably null Het
Kcna10 G A 3: 107,102,781 (GRCm39) E471K possibly damaging Het
Klf3 A T 5: 64,986,347 (GRCm39) E294V possibly damaging Het
Lancl1 A T 1: 67,060,015 (GRCm39) probably null Het
Ldaf1 T G 7: 119,714,714 (GRCm39) F68V probably damaging Het
Lrig3 T C 10: 125,846,877 (GRCm39) F882L probably benign Het
Man2c1 A G 9: 57,046,367 (GRCm39) N474S probably damaging Het
Map4k3 A G 17: 80,922,444 (GRCm39) probably null Het
Mast1 C A 8: 85,647,520 (GRCm39) W572C probably damaging Het
Mbd4 T A 6: 115,826,076 (GRCm39) Q305L possibly damaging Het
Mbl2 T A 19: 30,216,916 (GRCm39) S243T probably benign Het
Mcph1 C T 8: 18,682,557 (GRCm39) P565S probably benign Het
Mfsd1 G C 3: 67,507,943 (GRCm39) V435L probably benign Het
Mycbp2 C T 14: 103,360,881 (GRCm39) G1183D probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Nrde2 A G 12: 100,096,843 (GRCm39) Y986H probably benign Het
Oca2 G T 7: 56,064,182 (GRCm39) V726F possibly damaging Het
Or2ag13 T A 7: 106,472,580 (GRCm39) S291C probably damaging Het
Or7a41 A T 10: 78,871,244 (GRCm39) M205L probably benign Het
Pip5k1a A G 3: 94,975,370 (GRCm39) probably null Het
Plekhn1 A T 4: 156,309,730 (GRCm39) probably null Het
Sec61a2 T C 2: 5,887,670 (GRCm39) D104G probably benign Het
Skic3 A T 13: 76,303,784 (GRCm39) Y1234F probably damaging Het
Slc25a36 T C 9: 96,967,171 (GRCm39) T131A probably benign Het
Slc5a11 A T 7: 122,857,700 (GRCm39) D263V probably damaging Het
Sorbs1 T C 19: 40,384,189 (GRCm39) I35V probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tbc1d1 T C 5: 64,331,013 (GRCm39) V64A possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r20 A G 6: 57,409,042 (GRCm39) M123V probably benign Het
Zwint T C 10: 72,492,095 (GRCm39) L59P probably damaging 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
R2966:Noa1 UTSW 5 77,454,191 (GRCm39) missense possibly damaging 0.79
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'- TTGGAAGCACAACTCTTTGCTTG -3'
(R):5'- TGAACTGTGTATAGAGAACCCATC -3'

Sequencing Primer
(F):5'- GGAAGCACAACTCTTTGCTTGTTTTC -3'
(R):5'- ATGGCAGCTCACAACTGTCTG -3'
Posted On 2015-07-07