Incidental Mutation 'IGL00885:Nol9'
| ID |
27187 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nol9
|
| Ensembl Gene |
ENSMUSG00000028948 |
| Gene Name |
nucleolar protein 9 |
| Synonyms |
6030462G04Rik, 4632412I24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL00885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
152123778-152145951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152126057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 253
(F253L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030792]
[ENSMUST00000084116]
[ENSMUST00000103197]
|
| AlphaFold |
Q3TZX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030792
|
| SMART Domains |
Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
75 |
456 |
1.7e-69 |
PFAM |
|
Pfam:NCD3G
|
494 |
546 |
2.1e-15 |
PFAM |
|
Pfam:7tm_3
|
578 |
815 |
3.9e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084116
AA Change: F253L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: F253L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
Pfam:CLP1_P
|
322 |
480 |
7.5e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103197
AA Change: F253L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948
AA Change: F253L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
Pfam:MobB
|
316 |
429 |
5.9e-18 |
PFAM |
|
Pfam:Clp1
|
425 |
665 |
1.9e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105663
|
| SMART Domains |
Protein: ENSMUSP00000101288
Gene: ENSMUSG00000028948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
Pfam:MobB
|
316 |
429 |
5.3e-18 |
PFAM |
|
Pfam:Clp1
|
425 |
627 |
5.8e-46 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131696
AA Change: F250L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147797
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
T |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
| Adora2a |
T |
G |
10: 75,169,285 (GRCm39) |
F250V |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,355,567 (GRCm39) |
S516P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,390,552 (GRCm39) |
I150V |
probably damaging |
Het |
| Capn13 |
A |
T |
17: 73,646,420 (GRCm39) |
I331N |
possibly damaging |
Het |
| Capzb |
A |
G |
4: 139,014,361 (GRCm39) |
S233G |
probably benign |
Het |
| Clasp2 |
A |
G |
9: 113,740,484 (GRCm39) |
R1171G |
probably damaging |
Het |
| Col16a1 |
T |
G |
4: 129,990,703 (GRCm39) |
I1419S |
probably damaging |
Het |
| Coro7 |
T |
A |
16: 4,452,890 (GRCm39) |
Y286F |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,725,364 (GRCm39) |
T252A |
probably benign |
Het |
| Daam1 |
T |
A |
12: 71,990,865 (GRCm39) |
C160S |
unknown |
Het |
| Ephx4 |
T |
C |
5: 107,553,991 (GRCm39) |
|
probably benign |
Het |
| Fbxo47 |
A |
T |
11: 97,768,946 (GRCm39) |
D63E |
probably benign |
Het |
| Fgf3 |
A |
T |
7: 144,394,521 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
C |
T |
11: 53,039,809 (GRCm39) |
T331I |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,653,832 (GRCm39) |
F467S |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,478 (GRCm39) |
V106I |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,481 (GRCm39) |
T271A |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,236,175 (GRCm39) |
N302K |
probably benign |
Het |
| Kmt2c |
G |
T |
5: 25,614,169 (GRCm39) |
Q184K |
possibly damaging |
Het |
| Moxd2 |
A |
G |
6: 40,861,113 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
C |
A |
9: 110,467,729 (GRCm39) |
E479D |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,795,746 (GRCm39) |
L1231P |
probably damaging |
Het |
| Nfatc3 |
C |
T |
8: 106,825,809 (GRCm39) |
P620L |
probably damaging |
Het |
| Nutm2 |
T |
A |
13: 50,628,896 (GRCm39) |
S653R |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,790 (GRCm39) |
I43L |
probably benign |
Het |
| Or9i16 |
A |
T |
19: 13,865,532 (GRCm39) |
M14K |
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,600,003 (GRCm39) |
D921G |
probably benign |
Het |
| Plpp4 |
A |
T |
7: 128,923,257 (GRCm39) |
I101F |
probably damaging |
Het |
| Psg17 |
A |
T |
7: 18,554,091 (GRCm39) |
L53Q |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,730,093 (GRCm39) |
I20N |
possibly damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,164,175 (GRCm39) |
I1030L |
probably damaging |
Het |
| Rpl7 |
A |
C |
1: 16,172,807 (GRCm39) |
S171A |
possibly damaging |
Het |
| Snx25 |
G |
A |
8: 46,491,513 (GRCm39) |
T859M |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,815,926 (GRCm39) |
E702G |
unknown |
Het |
| Tmem94 |
A |
G |
11: 115,686,154 (GRCm39) |
M990V |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,774,502 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,029 (GRCm39) |
H34319R |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,404,424 (GRCm39) |
V8A |
probably benign |
Het |
| Zbtb41 |
A |
G |
1: 139,358,062 (GRCm39) |
T457A |
probably benign |
Het |
|
| Other mutations in Nol9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Nol9
|
APN |
4 |
152,136,472 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL00774:Nol9
|
APN |
4 |
152,136,472 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01125:Nol9
|
APN |
4 |
152,131,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01368:Nol9
|
APN |
4 |
152,142,848 (GRCm39) |
missense |
probably benign |
|
|
IGL01759:Nol9
|
APN |
4 |
152,130,500 (GRCm39) |
intron |
probably benign |
|
|
IGL01983:Nol9
|
APN |
4 |
152,130,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02185:Nol9
|
APN |
4 |
152,142,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Nol9
|
APN |
4 |
152,131,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Nol9
|
APN |
4 |
152,125,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0401:Nol9
|
UTSW |
4 |
152,137,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3721:Nol9
|
UTSW |
4 |
152,124,163 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4429:Nol9
|
UTSW |
4 |
152,125,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4460:Nol9
|
UTSW |
4 |
152,142,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Nol9
|
UTSW |
4 |
152,136,552 (GRCm39) |
intron |
probably benign |
|
|
R5137:Nol9
|
UTSW |
4 |
152,130,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Nol9
|
UTSW |
4 |
152,135,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6190:Nol9
|
UTSW |
4 |
152,125,691 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6317:Nol9
|
UTSW |
4 |
152,125,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Nol9
|
UTSW |
4 |
152,130,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Nol9
|
UTSW |
4 |
152,123,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6551:Nol9
|
UTSW |
4 |
152,136,325 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6580:Nol9
|
UTSW |
4 |
152,136,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7538:Nol9
|
UTSW |
4 |
152,124,115 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8143:Nol9
|
UTSW |
4 |
152,125,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9018:Nol9
|
UTSW |
4 |
152,123,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9428:Nol9
|
UTSW |
4 |
152,124,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9578:Nol9
|
UTSW |
4 |
152,125,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation