Incidental Mutation 'R5005:Noa1'
| ID |
390136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noa1
|
| Ensembl Gene |
ENSMUSG00000036285 |
| Gene Name |
nitric oxide associated 1 |
| Synonyms |
2610024G14Rik, mAtNOS1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5005 (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 77456873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 344
(Y344C)
|
| 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 damaging
Transcript: ENSMUST00000047860
AA Change: Y344C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045948
Gene: ENSMUSG00000036285
AA Change: Y344C
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
T |
C |
11: 83,230,218 (GRCm39) |
V412A |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,774,252 (GRCm39) |
Y455C |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,086,714 (GRCm39) |
K61E |
probably damaging |
Het |
| Cd207 |
T |
C |
6: 83,651,367 (GRCm39) |
E196G |
possibly damaging |
Het |
| Chn1 |
T |
A |
2: 73,490,130 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Cpd |
A |
G |
11: 76,704,396 (GRCm39) |
I406T |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,053,563 (GRCm39) |
V642I |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,281,188 (GRCm39) |
L2750F |
probably damaging |
Het |
| Epyc |
A |
G |
10: 97,510,562 (GRCm39) |
T122A |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,791,358 (GRCm39) |
H567R |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,739,444 (GRCm39) |
D729G |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,144,241 (GRCm39) |
V1204L |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,677,370 (GRCm39) |
M278V |
probably benign |
Het |
| Or4c102 |
A |
G |
2: 88,422,348 (GRCm39) |
M67V |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,672,310 (GRCm39) |
S718P |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,647 (GRCm39) |
V1061E |
probably benign |
Het |
| Rdh16f1 |
A |
G |
10: 127,624,546 (GRCm39) |
Q128R |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,693,625 (GRCm39) |
Q705L |
probably damaging |
Het |
| Tas2r143 |
T |
A |
6: 42,377,658 (GRCm39) |
C163S |
probably benign |
Het |
| Tigd2 |
A |
G |
6: 59,188,131 (GRCm39) |
T333A |
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,757,920 (GRCm39) |
V1209A |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,352 (GRCm39) |
V722D |
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 |
|
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 |
|
|
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'- AAGACATTTTAAAGGGACGGCTC -3'
(R):5'- TCAAGGACCACAGTACCCTG -3'
Sequencing Primer
(F):5'- TTTAAAGGGACGGCTCCAGGC -3'
(R):5'- TGCCGGGGATGAGCCAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation