Incidental Mutation 'R3439:Nom1'
ID |
267308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nom1
|
Ensembl Gene |
ENSMUSG00000001569 |
Gene Name |
nucleolar protein with MIF4G domain 1 |
Synonyms |
LOC381627, D5Kng1, Gm1040 |
MMRRC Submission |
040657-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3439 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
29637338-29658504 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29640615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 314
(S314P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001611]
|
AlphaFold |
Q3UFM5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001611
AA Change: S314P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000001611 Gene: ENSMUSG00000001569 AA Change: S314P
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 |
|
Meta Mutation Damage Score |
0.0700 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (30/30) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agxt2 |
C |
A |
15: 10,381,511 (GRCm39) |
P255Q |
probably benign |
Het |
Cdcp3 |
T |
C |
7: 130,790,508 (GRCm39) |
|
probably null |
Het |
Dnah10 |
T |
C |
5: 124,873,322 (GRCm39) |
Y2458H |
possibly damaging |
Het |
Dnhd1 |
A |
G |
7: 105,343,992 (GRCm39) |
T1779A |
probably damaging |
Het |
Glb1l |
A |
T |
1: 75,179,264 (GRCm39) |
C222S |
probably damaging |
Het |
Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
Helq |
T |
C |
5: 100,946,170 (GRCm39) |
E57G |
probably damaging |
Het |
Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
Lingo1 |
T |
C |
9: 56,528,017 (GRCm39) |
T191A |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
Med13 |
T |
C |
11: 86,176,123 (GRCm39) |
D1624G |
probably damaging |
Het |
Mthfsd |
A |
G |
8: 121,825,860 (GRCm39) |
V218A |
possibly damaging |
Het |
Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
Nwd2 |
G |
A |
5: 63,961,895 (GRCm39) |
R493H |
probably benign |
Het |
Or4f58 |
T |
C |
2: 111,851,792 (GRCm39) |
M136V |
possibly damaging |
Het |
Or5an11 |
A |
T |
19: 12,245,759 (GRCm39) |
H55L |
possibly damaging |
Het |
Palm |
C |
T |
10: 79,652,618 (GRCm39) |
|
probably benign |
Het |
Pitpnm1 |
A |
G |
19: 4,162,752 (GRCm39) |
E1115G |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Prrc2b |
T |
C |
2: 32,096,359 (GRCm39) |
F577L |
probably benign |
Het |
Rnpepl1 |
A |
T |
1: 92,844,662 (GRCm39) |
T385S |
possibly damaging |
Het |
Serpinb7 |
A |
T |
1: 107,356,081 (GRCm39) |
I35F |
probably damaging |
Het |
Srbd1 |
C |
T |
17: 86,365,187 (GRCm39) |
S623N |
probably benign |
Het |
Tchh |
A |
G |
3: 93,354,700 (GRCm39) |
E1380G |
unknown |
Het |
Tet2 |
G |
T |
3: 133,172,592 (GRCm39) |
A1890D |
possibly damaging |
Het |
Tfr2 |
G |
T |
5: 137,572,913 (GRCm39) |
V215F |
probably benign |
Het |
Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
Vwde |
T |
A |
6: 13,208,374 (GRCm39) |
L169F |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTGGAGAGTGACCTAGAGAG -3'
(R):5'- CCCATGAGAACTTGGAGCAG -3'
Sequencing Primer
(F):5'- TTGGAGAGTGACCTAGAGAGCAATTC -3'
(R):5'- CGAAGTGAAGCTCTATGATTGCC -3'
|
Posted On |
2015-02-18 |