Incidental Mutation 'IGL02308:Nom1'
| ID |
287689 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nom1
|
| Ensembl Gene |
ENSMUSG00000001569 |
| Gene Name |
nucleolar protein with MIF4G domain 1 |
| Synonyms |
LOC381627, D5Kng1, Gm1040 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
29637338-29658504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29642708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 403
(V403D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001611]
|
| AlphaFold |
Q3UFM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001611
AA Change: V403D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001611
Gene: ENSMUSG00000001569
AA Change: V403D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
147 |
N/A |
INTRINSIC |
|
coiled coil region
|
170 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
326 |
N/A |
INTRINSIC |
|
MIF4G
|
356 |
553 |
1.1e-21 |
SMART |
|
MA3
|
649 |
755 |
1.59e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146347
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,093,308 (GRCm39) |
S8F |
probably damaging |
Het |
| Alpk1 |
T |
A |
3: 127,522,931 (GRCm39) |
Q37L |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,736,463 (GRCm39) |
T1343A |
probably benign |
Het |
| Cmbl |
C |
A |
15: 31,585,554 (GRCm39) |
P146Q |
possibly damaging |
Het |
| Cog2 |
A |
T |
8: 125,259,951 (GRCm39) |
|
probably null |
Het |
| Dgkh |
C |
A |
14: 78,825,016 (GRCm39) |
V880L |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,402,141 (GRCm39) |
S1114P |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,080,828 (GRCm39) |
V723D |
probably damaging |
Het |
| Gdf11 |
A |
G |
10: 128,721,253 (GRCm39) |
Y314H |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
G |
A |
11: 57,127,750 (GRCm39) |
V320I |
probably benign |
Het |
| H2-Q10 |
T |
A |
17: 35,784,463 (GRCm39) |
*326R |
probably null |
Het |
| Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,832,120 (GRCm39) |
|
probably benign |
Het |
| Mios |
A |
G |
6: 8,231,269 (GRCm39) |
I718V |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,096,893 (GRCm39) |
V318A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,039,897 (GRCm39) |
*528W |
probably null |
Het |
| Npffr2 |
C |
A |
5: 89,731,310 (GRCm39) |
N413K |
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,476,860 (GRCm39) |
R135K |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,779,121 (GRCm39) |
Y26N |
probably benign |
Het |
| Or52e8 |
T |
A |
7: 104,624,665 (GRCm39) |
I176F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,140,600 (GRCm39) |
|
probably null |
Het |
| Ptpro |
A |
G |
6: 137,431,698 (GRCm39) |
M1158V |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,001,017 (GRCm39) |
K238E |
probably damaging |
Het |
| Smarcc2 |
G |
T |
10: 128,318,641 (GRCm39) |
R641L |
probably damaging |
Het |
| Th |
T |
C |
7: 142,451,794 (GRCm39) |
E75G |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Top6bl |
T |
C |
19: 4,713,583 (GRCm39) |
K132E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,724,705 (GRCm39) |
R2107* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,245,119 (GRCm39) |
C1636S |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,741,597 (GRCm39) |
I103K |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,437 (GRCm39) |
M558V |
possibly damaging |
Het |
| Zzef1 |
G |
A |
11: 72,777,573 (GRCm39) |
M1801I |
probably benign |
Het |
|
| Other mutations in Nom1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Nom1
|
APN |
5 |
29,651,272 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01795:Nom1
|
APN |
5 |
29,651,869 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02378:Nom1
|
APN |
5 |
29,656,124 (GRCm39) |
nonsense |
probably null |
|
|
IGL02506:Nom1
|
APN |
5 |
29,644,814 (GRCm39) |
splice site |
probably benign |
|
|
R0633:Nom1
|
UTSW |
5 |
29,656,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Nom1
|
UTSW |
5 |
29,640,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1571:Nom1
|
UTSW |
5 |
29,647,633 (GRCm39) |
nonsense |
probably null |
|
|
R1707:Nom1
|
UTSW |
5 |
29,640,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1852:Nom1
|
UTSW |
5 |
29,651,876 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2025:Nom1
|
UTSW |
5 |
29,651,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2196:Nom1
|
UTSW |
5 |
29,641,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2207:Nom1
|
UTSW |
5 |
29,644,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Nom1
|
UTSW |
5 |
29,642,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Nom1
|
UTSW |
5 |
29,642,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Nom1
|
UTSW |
5 |
29,648,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3439:Nom1
|
UTSW |
5 |
29,640,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4291:Nom1
|
UTSW |
5 |
29,651,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4587:Nom1
|
UTSW |
5 |
29,656,163 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5374:Nom1
|
UTSW |
5 |
29,646,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5761:Nom1
|
UTSW |
5 |
29,642,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Nom1
|
UTSW |
5 |
29,651,873 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5828:Nom1
|
UTSW |
5 |
29,640,124 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5963:Nom1
|
UTSW |
5 |
29,642,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6208:Nom1
|
UTSW |
5 |
29,654,617 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7234:Nom1
|
UTSW |
5 |
29,640,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7476:Nom1
|
UTSW |
5 |
29,647,534 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8848:Nom1
|
UTSW |
5 |
29,645,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Nom1
|
UTSW |
5 |
29,639,712 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9284:Nom1
|
UTSW |
5 |
29,647,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9390:Nom1
|
UTSW |
5 |
29,639,766 (GRCm39) |
missense |
probably benign |
|
|
R9608:Nom1
|
UTSW |
5 |
29,642,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9681:Nom1
|
UTSW |
5 |
29,642,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Nom1
|
UTSW |
5 |
29,654,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation