Incidental Mutation 'R4920:Noa1'
| ID |
378510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noa1
|
| Ensembl Gene |
ENSMUSG00000036285 |
| Gene Name |
nitric oxide associated 1 |
| Synonyms |
2610024G14Rik, mAtNOS1 |
| MMRRC Submission |
042522-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77442029-77457931 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 77454334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000047860
|
| SMART Domains |
Protein: ENSMUSP00000045948
Gene: ENSMUSG00000036285
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 87.9%
|
| Validation Efficiency |
96% (55/57) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700092K14Rik |
A |
T |
11: 114,089,871 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Apbb1ip |
A |
G |
2: 22,709,696 (GRCm39) |
D51G |
unknown |
Het |
| Bmal1 |
A |
G |
7: 112,884,321 (GRCm39) |
T120A |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,415,785 (GRCm39) |
V783D |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,998,907 (GRCm39) |
D58G |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,608,504 (GRCm39) |
G62V |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,563,538 (GRCm39) |
Y422H |
probably benign |
Het |
| Cpa4 |
T |
C |
6: 30,568,462 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
G |
15: 73,412,574 (GRCm39) |
H412R |
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,407,467 (GRCm39) |
|
probably benign |
Het |
| Dtwd2 |
G |
T |
18: 49,831,507 (GRCm39) |
R167S |
possibly damaging |
Het |
| Dync1i2 |
G |
A |
2: 71,077,668 (GRCm39) |
R243Q |
probably damaging |
Het |
| Ear2 |
G |
A |
14: 44,340,582 (GRCm39) |
G80E |
probably damaging |
Het |
| Fam171b |
A |
G |
2: 83,710,703 (GRCm39) |
K792E |
possibly damaging |
Het |
| Fam83b |
G |
A |
9: 76,399,150 (GRCm39) |
T651I |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,351,480 (GRCm39) |
F243V |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,807 (GRCm39) |
I115M |
probably damaging |
Het |
| Glrx3 |
A |
G |
7: 137,065,859 (GRCm39) |
D163G |
probably null |
Het |
| Gm14488 |
A |
T |
2: 30,605,044 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
C |
1: 59,666,725 (GRCm39) |
S683P |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Gsdmd |
T |
C |
15: 75,736,206 (GRCm39) |
S112P |
probably damaging |
Het |
| Ighv14-3 |
A |
G |
12: 114,023,877 (GRCm39) |
V6A |
probably benign |
Het |
| Lca5l |
T |
A |
16: 95,980,035 (GRCm39) |
S32C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,571,765 (GRCm39) |
Y260* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,821,645 (GRCm39) |
S1340P |
possibly damaging |
Het |
| Mfsd13a |
T |
G |
19: 46,355,655 (GRCm39) |
F59V |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,843,930 (GRCm39) |
T571M |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,425,853 (GRCm39) |
D30G |
probably benign |
Het |
| Rfc1 |
C |
A |
5: 65,445,271 (GRCm39) |
V460F |
probably damaging |
Het |
| Rrn3 |
A |
G |
16: 13,608,503 (GRCm39) |
D182G |
probably benign |
Het |
| Sap25 |
T |
A |
5: 137,640,507 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,794,878 (GRCm39) |
I480V |
probably benign |
Het |
| Smo |
T |
C |
6: 29,759,593 (GRCm39) |
S642P |
probably damaging |
Het |
| Tbc1d22a |
A |
C |
15: 86,195,949 (GRCm39) |
I307L |
probably benign |
Het |
| Tent2 |
G |
A |
13: 93,322,833 (GRCm39) |
Q39* |
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,783,212 (GRCm39) |
Q716R |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,918 (GRCm39) |
E276G |
probably benign |
Het |
| Zfp189 |
G |
A |
4: 49,529,302 (GRCm39) |
C135Y |
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 |
|
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'- AAACCAGTGGGCGTCTTTCAC -3'
(R):5'- ATGAACTGTGTATAGAGAACCCATC -3'
Sequencing Primer
(F):5'- ACGTCCTCTGGGGTTAGCTC -3'
(R):5'- GCACTAAAAGCTCTTCCAGGGG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation