Incidental Mutation 'R6827:Naf1'
| ID |
534207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naf1
|
| Ensembl Gene |
ENSMUSG00000014907 |
| Gene Name |
nuclear assembly factor 1 ribonucleoprotein |
| Synonyms |
LOC234344 |
| MMRRC Submission |
044938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R6827 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
67312869-67343216 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67330343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 290
(T290S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118009]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118009
AA Change: T290S
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112640
Gene: ENSMUSG00000014907
AA Change: T290S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
97% (36/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef26 |
C |
A |
3: 62,330,919 (GRCm39) |
|
probably null |
Het |
| Asb3 |
A |
G |
11: 31,051,211 (GRCm39) |
N555S |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,966,896 (GRCm39) |
V501A |
probably damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,841,302 (GRCm39) |
T773A |
possibly damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,840,191 (GRCm39) |
N139Y |
probably damaging |
Het |
| Ephx1 |
A |
G |
1: 180,817,453 (GRCm39) |
L406P |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,727,176 (GRCm39) |
I607F |
probably damaging |
Het |
| Gm3573 |
T |
A |
14: 42,010,429 (GRCm39) |
T59S |
probably benign |
Het |
| Gm572 |
T |
C |
4: 148,742,543 (GRCm39) |
L94P |
possibly damaging |
Het |
| Gypa |
A |
T |
8: 81,231,417 (GRCm39) |
M109L |
probably benign |
Het |
| Hk3 |
C |
A |
13: 55,159,165 (GRCm39) |
V409L |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,899,925 (GRCm39) |
T65A |
probably benign |
Het |
| Kdr |
G |
T |
5: 76,105,205 (GRCm39) |
P1055Q |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,994,053 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
A |
G |
10: 116,881,545 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,155,748 (GRCm39) |
T284I |
probably benign |
Het |
| Naip5 |
C |
A |
13: 100,382,437 (GRCm39) |
V91L |
possibly damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,255,530 (GRCm39) |
V568A |
probably damaging |
Het |
| Ntrk2 |
T |
C |
13: 59,274,382 (GRCm39) |
W753R |
probably damaging |
Het |
| Or51v15-ps1 |
C |
A |
7: 103,279,032 (GRCm39) |
C45F |
possibly damaging |
Het |
| Pbld1 |
C |
A |
10: 62,903,212 (GRCm39) |
N96K |
probably damaging |
Het |
| Pcdhac2 |
G |
A |
18: 37,277,706 (GRCm39) |
V229M |
probably benign |
Het |
| Prrc2b |
G |
T |
2: 32,090,963 (GRCm39) |
R445L |
probably benign |
Het |
| Scyl2 |
T |
C |
10: 89,505,666 (GRCm39) |
|
probably null |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Slc22a5 |
A |
T |
11: 53,762,442 (GRCm39) |
I21N |
possibly damaging |
Het |
| Tex51 |
C |
T |
18: 32,591,713 (GRCm39) |
W186* |
probably null |
Het |
| Tmem168 |
A |
T |
6: 13,582,837 (GRCm39) |
F297L |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,968,052 (GRCm39) |
E293G |
possibly damaging |
Het |
| Trps1 |
T |
A |
15: 50,685,959 (GRCm39) |
T69S |
probably benign |
Het |
| Ubxn4 |
T |
C |
1: 128,204,714 (GRCm39) |
M468T |
probably benign |
Het |
| Unc5b |
C |
A |
10: 60,616,011 (GRCm39) |
R104L |
probably benign |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,828,882 (GRCm39) |
Q1041R |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,551,474 (GRCm39) |
F68L |
probably benign |
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 |
|
IGL01861:Naf1
|
APN |
8 |
67,317,185 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTACTGCAAAGGAGACACTAAGGG -3'
(R):5'- TGATGGGTGCAGAAGGGTCA -3'
Sequencing Primer
(F):5'- AAGGGACCGCTTTAATCCTACTG -3'
(R):5'- TGAGCTTAGCCTTCTAGAACCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation