Incidental Mutation 'IGL01861:Naf1'
| ID |
178343 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Naf1
|
| Ensembl Gene |
ENSMUSG00000014907 |
| Gene Name |
nuclear assembly factor 1 ribonucleoprotein |
| Synonyms |
LOC234344 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
IGL01861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
67312869-67343216 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 67317185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118009]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118009
|
| SMART Domains |
Protein: ENSMUSP00000112640
Gene: ENSMUSG00000014907
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
246 |
N/A |
INTRINSIC |
|
Pfam:Gar1
|
280 |
431 |
2.3e-48 |
PFAM |
|
low complexity region
|
517 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
585 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212916
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality between implantation and placentation while heterozygotes show no evident ribosomal pathology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc5 |
T |
C |
17: 56,607,144 (GRCm39) |
T34A |
possibly damaging |
Het |
| Atm |
C |
A |
9: 53,405,912 (GRCm39) |
R1252L |
probably null |
Het |
| Cd34 |
T |
C |
1: 194,640,888 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,256 (GRCm39) |
V2944A |
probably damaging |
Het |
| Cntnap3 |
C |
T |
13: 64,946,922 (GRCm39) |
G169D |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,679,508 (GRCm39) |
T326S |
probably benign |
Het |
| Dnah7a |
C |
T |
1: 53,623,608 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
A |
G |
5: 3,614,242 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,057,808 (GRCm39) |
S906P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,910 (GRCm39) |
Y1099C |
probably damaging |
Het |
| Gpr63 |
C |
T |
4: 25,008,545 (GRCm39) |
T423M |
probably damaging |
Het |
| Hpx |
A |
T |
7: 105,241,393 (GRCm39) |
Y339* |
probably null |
Het |
| Lingo2 |
A |
T |
4: 35,709,526 (GRCm39) |
D151E |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,565 (GRCm39) |
Q215L |
probably damaging |
Het |
| Ndufv1 |
A |
G |
19: 4,058,803 (GRCm39) |
V235A |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,055,046 (GRCm39) |
I205T |
probably damaging |
Het |
| Pafah1b1 |
A |
T |
11: 74,581,403 (GRCm39) |
N22K |
possibly damaging |
Het |
| Prune1 |
G |
T |
3: 95,172,868 (GRCm39) |
R66S |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,095,587 (GRCm39) |
I291N |
possibly damaging |
Het |
| Ptprk |
A |
G |
10: 28,259,441 (GRCm39) |
I294V |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,597,675 (GRCm39) |
V471M |
probably damaging |
Het |
| Rnase6 |
C |
A |
14: 51,367,748 (GRCm39) |
Q47K |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,417,021 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,124,457 (GRCm39) |
|
probably benign |
Het |
| Stap1 |
A |
G |
5: 86,244,383 (GRCm39) |
I217V |
possibly damaging |
Het |
| Taf1d |
T |
C |
9: 15,220,035 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,284,658 (GRCm39) |
H809R |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,060,717 (GRCm39) |
N49S |
probably damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,374 (GRCm39) |
|
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,063,804 (GRCm39) |
Y589C |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,973,742 (GRCm39) |
T4S |
possibly damaging |
Het |
| Zfp687 |
A |
T |
3: 94,919,171 (GRCm39) |
F200L |
probably damaging |
Het |
|
| Other mutations in Naf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00806:Naf1
|
APN |
8 |
67,338,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02817:Naf1
|
APN |
8 |
67,336,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Naf1
|
UTSW |
8 |
67,341,707 (GRCm39) |
splice site |
probably benign |
|
|
R0092:Naf1
|
UTSW |
8 |
67,341,760 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2062:Naf1
|
UTSW |
8 |
67,340,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2065:Naf1
|
UTSW |
8 |
67,340,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Naf1
|
UTSW |
8 |
67,340,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Naf1
|
UTSW |
8 |
67,340,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Naf1
|
UTSW |
8 |
67,313,188 (GRCm39) |
unclassified |
probably benign |
|
|
R4296:Naf1
|
UTSW |
8 |
67,342,114 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5186:Naf1
|
UTSW |
8 |
67,332,298 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5560:Naf1
|
UTSW |
8 |
67,336,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Naf1
|
UTSW |
8 |
67,336,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Naf1
|
UTSW |
8 |
67,330,347 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6389:Naf1
|
UTSW |
8 |
67,313,680 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6827:Naf1
|
UTSW |
8 |
67,330,343 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7083:Naf1
|
UTSW |
8 |
67,313,138 (GRCm39) |
unclassified |
probably benign |
|
|
R7444:Naf1
|
UTSW |
8 |
67,313,200 (GRCm39) |
unclassified |
probably benign |
|
|
R7727:Naf1
|
UTSW |
8 |
67,313,200 (GRCm39) |
unclassified |
probably benign |
|
|
R7818:Naf1
|
UTSW |
8 |
67,342,028 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7860:Naf1
|
UTSW |
8 |
67,313,165 (GRCm39) |
missense |
unknown |
|
|
R7923:Naf1
|
UTSW |
8 |
67,313,200 (GRCm39) |
unclassified |
probably benign |
|
|
R7977:Naf1
|
UTSW |
8 |
67,313,146 (GRCm39) |
unclassified |
probably benign |
|
|
R8420:Naf1
|
UTSW |
8 |
67,313,200 (GRCm39) |
unclassified |
probably benign |
|
|
R8462:Naf1
|
UTSW |
8 |
67,313,200 (GRCm39) |
unclassified |
probably benign |
|
|
R8815:Naf1
|
UTSW |
8 |
67,317,333 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8989:Naf1
|
UTSW |
8 |
67,313,628 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9138:Naf1
|
UTSW |
8 |
67,317,198 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9231:Naf1
|
UTSW |
8 |
67,313,146 (GRCm39) |
unclassified |
probably benign |
|
|
R9283:Naf1
|
UTSW |
8 |
67,313,503 (GRCm39) |
missense |
unknown |
|
|
R9445:Naf1
|
UTSW |
8 |
67,336,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9454:Naf1
|
UTSW |
8 |
67,313,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9680:Naf1
|
UTSW |
8 |
67,313,200 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation