Incidental Mutation 'IGL01475:Nom1'
| ID |
88427 |
| 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 # |
IGL01475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
29637338-29658504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29651272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 684
(V684A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001611]
|
| AlphaFold |
Q3UFM5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001611
AA Change: V684A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001611
Gene: ENSMUSG00000001569
AA Change: V684A
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
A |
T |
14: 59,380,252 (GRCm39) |
N15K |
possibly damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,664 (GRCm39) |
I587K |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,584,843 (GRCm39) |
S942G |
probably benign |
Het |
| Adamtsl5 |
A |
G |
10: 80,180,750 (GRCm39) |
F104S |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,761,245 (GRCm39) |
D980G |
probably benign |
Het |
| Apba1 |
A |
T |
19: 23,894,950 (GRCm39) |
D462V |
possibly damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,634,433 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
T |
C |
18: 60,943,393 (GRCm39) |
|
probably benign |
Het |
| Cdc16 |
T |
C |
8: 13,831,542 (GRCm39) |
S592P |
probably benign |
Het |
| Cenpj |
A |
G |
14: 56,802,502 (GRCm39) |
M21T |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,103,521 (GRCm39) |
L425S |
probably damaging |
Het |
| Dbt |
C |
T |
3: 116,313,908 (GRCm39) |
T25I |
possibly damaging |
Het |
| Dguok |
C |
A |
6: 83,467,552 (GRCm39) |
M98I |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,004,781 (GRCm39) |
L943P |
probably damaging |
Het |
| Eloa |
G |
A |
4: 135,738,231 (GRCm39) |
S243L |
probably benign |
Het |
| Enkur |
C |
A |
2: 21,201,530 (GRCm39) |
A52S |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,083,787 (GRCm39) |
E744G |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,672,101 (GRCm39) |
S190P |
possibly damaging |
Het |
| Foxb1 |
G |
A |
9: 69,666,550 (GRCm39) |
|
probably benign |
Het |
| Gabra5 |
C |
T |
7: 57,058,432 (GRCm39) |
G439S |
probably damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,541 (GRCm39) |
V207D |
probably damaging |
Het |
| Hoatz |
A |
G |
9: 51,011,358 (GRCm39) |
I93T |
probably benign |
Het |
| Krt76 |
A |
G |
15: 101,796,948 (GRCm39) |
V317A |
probably benign |
Het |
| Lair1 |
C |
A |
7: 4,012,683 (GRCm39) |
|
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,791,051 (GRCm39) |
H243Q |
probably damaging |
Het |
| Mast3 |
C |
T |
8: 71,232,174 (GRCm39) |
A1268T |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,316,671 (GRCm39) |
M4I |
possibly damaging |
Het |
| Mob1b |
T |
A |
5: 88,897,502 (GRCm39) |
F137I |
probably damaging |
Het |
| Mreg |
T |
C |
1: 72,203,325 (GRCm39) |
|
probably benign |
Het |
| Pate2 |
T |
A |
9: 35,580,998 (GRCm39) |
L1Q |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,271,425 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,331,870 (GRCm39) |
F447L |
possibly damaging |
Het |
| Pno1 |
A |
T |
11: 17,160,992 (GRCm39) |
I114N |
probably damaging |
Het |
| Ppp1r7 |
T |
G |
1: 93,288,540 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
A |
19: 46,059,968 (GRCm39) |
Y1503N |
probably benign |
Het |
| Rab30 |
T |
C |
7: 92,484,930 (GRCm39) |
V132A |
probably damaging |
Het |
| Slc15a4 |
T |
C |
5: 127,679,024 (GRCm39) |
T439A |
probably benign |
Het |
| Slc29a3 |
A |
G |
10: 60,559,596 (GRCm39) |
V186A |
possibly damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,165,454 (GRCm39) |
T88I |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,160,701 (GRCm39) |
V1250A |
probably benign |
Het |
| Tcte2 |
A |
T |
17: 13,937,824 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
A |
T |
3: 54,173,828 (GRCm39) |
L407F |
possibly damaging |
Het |
| Vmn1r6 |
T |
C |
6: 56,979,896 (GRCm39) |
F164S |
probably damaging |
Het |
| Zfp579 |
C |
A |
7: 4,997,743 (GRCm39) |
R56L |
probably benign |
Het |
|
| Other mutations in Nom1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01795:Nom1
|
APN |
5 |
29,651,869 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02308:Nom1
|
APN |
5 |
29,642,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-18 |
Incidental Mutation