Incidental Mutation 'IGL01795:Nom1'
| ID |
155321 |
| 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 # |
IGL01795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
29637338-29658504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29651869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 736
(T736A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001611]
|
| AlphaFold |
Q3UFM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001611
AA Change: T736A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000001611
Gene: ENSMUSG00000001569
AA Change: T736A
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,217,753 (GRCm39) |
I1562K |
probably benign |
Het |
| B4galt1 |
T |
A |
4: 40,807,760 (GRCm39) |
D347V |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,152,175 (GRCm39) |
R646S |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,764,149 (GRCm39) |
L127* |
probably null |
Het |
| Cd109 |
A |
G |
9: 78,569,047 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,803,294 (GRCm39) |
V2128A |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,108 (GRCm39) |
I376F |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,076,167 (GRCm39) |
S275P |
probably damaging |
Het |
| Dnaaf8 |
T |
G |
16: 4,791,935 (GRCm39) |
|
noncoding transcript |
Het |
| Erap1 |
T |
A |
13: 74,814,209 (GRCm39) |
|
probably null |
Het |
| F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,925,904 (GRCm39) |
V3703F |
probably damaging |
Het |
| Hmmr |
C |
T |
11: 40,612,561 (GRCm39) |
M185I |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,403,733 (GRCm39) |
Y8C |
probably damaging |
Het |
| Krt16 |
A |
G |
11: 100,138,550 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,050,749 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
C |
T |
1: 127,396,968 (GRCm39) |
R572W |
probably damaging |
Het |
| Neil2 |
T |
C |
14: 63,426,199 (GRCm39) |
D57G |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,584,731 (GRCm39) |
M46L |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,478 (GRCm39) |
I98N |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,215 (GRCm39) |
I74F |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,989,189 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,308 (GRCm39) |
S1224P |
probably benign |
Het |
| Slc44a2 |
A |
C |
9: 21,256,645 (GRCm39) |
K336Q |
probably damaging |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,908,501 (GRCm39) |
T1754I |
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,390 (GRCm39) |
S596G |
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 |
|
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 |
2014-02-04 |
Incidental Mutation