Incidental Mutation 'R6047:Ftsj3'
ID |
483352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ftsj3
|
Ensembl Gene |
ENSMUSG00000020706 |
Gene Name |
FtsJ RNA 2'-O-methyltransferase 3 |
Synonyms |
D11Ertd400e, C79843, Epcs3 |
MMRRC Submission |
044215-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R6047 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106139968-106146905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 106143144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 390
(R390H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021046]
[ENSMUST00000021048]
[ENSMUST00000021049]
[ENSMUST00000133131]
|
AlphaFold |
Q9DBE9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021046
|
SMART Domains |
Protein: ENSMUSP00000021046 Gene: ENSMUSG00000020705
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
low complexity region
|
35 |
52 |
N/A |
INTRINSIC |
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
low complexity region
|
108 |
114 |
N/A |
INTRINSIC |
coiled coil region
|
116 |
143 |
N/A |
INTRINSIC |
low complexity region
|
149 |
158 |
N/A |
INTRINSIC |
DEXDc
|
272 |
474 |
7.61e-68 |
SMART |
HELICc
|
512 |
593 |
1.58e-33 |
SMART |
low complexity region
|
644 |
659 |
N/A |
INTRINSIC |
low complexity region
|
722 |
737 |
N/A |
INTRINSIC |
low complexity region
|
814 |
838 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021048
AA Change: R390H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021048 Gene: ENSMUSG00000020706 AA Change: R390H
Domain | Start | End | E-Value | Type |
Pfam:FtsJ
|
24 |
200 |
2.8e-56 |
PFAM |
low complexity region
|
203 |
218 |
N/A |
INTRINSIC |
Pfam:DUF3381
|
231 |
398 |
1.3e-48 |
PFAM |
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
low complexity region
|
560 |
568 |
N/A |
INTRINSIC |
Pfam:Spb1_C
|
597 |
831 |
1.8e-72 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021049
|
SMART Domains |
Protein: ENSMUSP00000021049 Gene: ENSMUSG00000020708
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
AAA
|
182 |
321 |
6.96e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127803
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133131
|
SMART Domains |
Protein: ENSMUSP00000138057 Gene: ENSMUSG00000020708
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
AAA
|
182 |
321 |
6.96e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154635
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143884
|
Meta Mutation Damage Score |
0.0894 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (36/36) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(10) : Targeted(2) Gene trapped(8)
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,856,066 (GRCm39) |
I58T |
probably damaging |
Het |
Adgrb2 |
G |
T |
4: 129,912,498 (GRCm39) |
G1208C |
probably damaging |
Het |
Antxrl |
T |
C |
14: 33,775,433 (GRCm39) |
|
probably benign |
Het |
Appl2 |
C |
T |
10: 83,448,765 (GRCm39) |
|
probably null |
Het |
Bloc1s2 |
T |
C |
19: 44,130,629 (GRCm39) |
I112V |
possibly damaging |
Het |
Cblb |
G |
T |
16: 51,932,611 (GRCm39) |
|
probably null |
Het |
Cdk9 |
T |
C |
2: 32,598,285 (GRCm39) |
|
probably null |
Het |
Dok7 |
G |
A |
5: 35,236,651 (GRCm39) |
G206D |
probably damaging |
Het |
Gpr179 |
G |
T |
11: 97,229,242 (GRCm39) |
P971Q |
probably damaging |
Het |
Hic1 |
A |
T |
11: 75,057,675 (GRCm39) |
S405T |
possibly damaging |
Het |
Ifngr1 |
T |
C |
10: 19,482,061 (GRCm39) |
L217P |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,711,483 (GRCm39) |
K468E |
probably damaging |
Het |
Lce1j |
G |
C |
3: 92,696,503 (GRCm39) |
R92G |
unknown |
Het |
Lrp12 |
T |
C |
15: 39,735,463 (GRCm39) |
E823G |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,527,787 (GRCm39) |
I98T |
probably benign |
Het |
Mbd3l2 |
A |
T |
9: 18,356,212 (GRCm39) |
H179L |
possibly damaging |
Het |
Med24 |
A |
T |
11: 98,598,591 (GRCm39) |
C691* |
probably null |
Het |
Mical1 |
T |
C |
10: 41,357,703 (GRCm39) |
|
probably null |
Het |
Msantd2 |
A |
T |
9: 37,434,738 (GRCm39) |
Y326F |
probably damaging |
Het |
Nfyc |
T |
A |
4: 120,636,314 (GRCm39) |
|
probably null |
Het |
Nrg3 |
T |
A |
14: 38,119,309 (GRCm39) |
|
probably null |
Het |
Nt5c3 |
G |
A |
6: 56,859,964 (GRCm39) |
S291L |
probably damaging |
Het |
Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
Pdia5 |
T |
C |
16: 35,217,848 (GRCm39) |
K512E |
probably damaging |
Het |
Pfpl |
T |
C |
19: 12,406,597 (GRCm39) |
F283L |
probably damaging |
Het |
Pick1 |
A |
G |
15: 79,139,895 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,814,059 (GRCm39) |
V4143A |
probably damaging |
Het |
Ptprc |
C |
T |
1: 138,028,779 (GRCm39) |
|
probably null |
Het |
Scn10a |
A |
G |
9: 119,451,897 (GRCm39) |
F1342S |
probably benign |
Het |
Slc17a7 |
A |
T |
7: 44,822,830 (GRCm39) |
I436F |
probably benign |
Het |
Slc34a1 |
G |
T |
13: 55,559,884 (GRCm39) |
A403S |
probably damaging |
Het |
Stmn3 |
A |
T |
2: 180,950,952 (GRCm39) |
Y35N |
possibly damaging |
Het |
Tldc2 |
A |
G |
2: 156,938,382 (GRCm39) |
E207G |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
Uty |
G |
T |
Y: 1,158,288 (GRCm39) |
P538Q |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,756,921 (GRCm39) |
D1142G |
probably damaging |
Het |
|
Other mutations in Ftsj3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00719:Ftsj3
|
APN |
11 |
106,141,005 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00964:Ftsj3
|
APN |
11 |
106,143,941 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01025:Ftsj3
|
APN |
11 |
106,141,185 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01101:Ftsj3
|
APN |
11 |
106,146,458 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01370:Ftsj3
|
APN |
11 |
106,143,145 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02000:Ftsj3
|
APN |
11 |
106,141,233 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02139:Ftsj3
|
APN |
11 |
106,145,489 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02340:Ftsj3
|
APN |
11 |
106,143,972 (GRCm39) |
nonsense |
probably null |
|
IGL02964:Ftsj3
|
APN |
11 |
106,143,163 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03136:Ftsj3
|
APN |
11 |
106,144,639 (GRCm39) |
missense |
probably damaging |
1.00 |
D4043:Ftsj3
|
UTSW |
11 |
106,145,634 (GRCm39) |
missense |
possibly damaging |
0.91 |
LCD18:Ftsj3
|
UTSW |
11 |
106,140,885 (GRCm39) |
splice site |
probably benign |
|
NA:Ftsj3
|
UTSW |
11 |
106,145,634 (GRCm39) |
missense |
possibly damaging |
0.91 |
P0018:Ftsj3
|
UTSW |
11 |
106,145,634 (GRCm39) |
missense |
possibly damaging |
0.91 |
P0027:Ftsj3
|
UTSW |
11 |
106,145,634 (GRCm39) |
missense |
possibly damaging |
0.91 |
PIT4581001:Ftsj3
|
UTSW |
11 |
106,140,302 (GRCm39) |
missense |
unknown |
|
R1449:Ftsj3
|
UTSW |
11 |
106,143,826 (GRCm39) |
missense |
probably benign |
0.28 |
R2242:Ftsj3
|
UTSW |
11 |
106,141,604 (GRCm39) |
missense |
probably benign |
0.45 |
R4086:Ftsj3
|
UTSW |
11 |
106,140,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Ftsj3
|
UTSW |
11 |
106,144,502 (GRCm39) |
missense |
probably benign |
0.01 |
R4358:Ftsj3
|
UTSW |
11 |
106,144,502 (GRCm39) |
missense |
probably benign |
0.01 |
R4943:Ftsj3
|
UTSW |
11 |
106,140,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R5520:Ftsj3
|
UTSW |
11 |
106,146,414 (GRCm39) |
missense |
probably benign |
0.05 |
R5997:Ftsj3
|
UTSW |
11 |
106,143,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R6180:Ftsj3
|
UTSW |
11 |
106,144,166 (GRCm39) |
splice site |
probably null |
|
R6771:Ftsj3
|
UTSW |
11 |
106,140,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R7121:Ftsj3
|
UTSW |
11 |
106,143,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R7303:Ftsj3
|
UTSW |
11 |
106,145,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R7349:Ftsj3
|
UTSW |
11 |
106,140,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7559:Ftsj3
|
UTSW |
11 |
106,143,813 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7782:Ftsj3
|
UTSW |
11 |
106,143,377 (GRCm39) |
unclassified |
probably benign |
|
R7783:Ftsj3
|
UTSW |
11 |
106,143,377 (GRCm39) |
unclassified |
probably benign |
|
R7899:Ftsj3
|
UTSW |
11 |
106,143,115 (GRCm39) |
nonsense |
probably null |
|
R8129:Ftsj3
|
UTSW |
11 |
106,144,657 (GRCm39) |
missense |
probably benign |
0.03 |
R8897:Ftsj3
|
UTSW |
11 |
106,144,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R8933:Ftsj3
|
UTSW |
11 |
106,141,660 (GRCm39) |
missense |
probably benign |
0.01 |
R8985:Ftsj3
|
UTSW |
11 |
106,141,595 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGCATTCTGGAGTCTCGG -3'
(R):5'- ACACCTTTCGACTGGTTTGC -3'
Sequencing Primer
(F):5'- CATTCTGGAGTCTCGGGTACTC -3'
(R):5'- TGGTTTGCCAGCCTCAGC -3'
|
Posted On |
2017-07-14 |