Incidental Mutation 'IGL02340:Ftsj3'
| ID |
289025 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ftsj3
|
| Ensembl Gene |
ENSMUSG00000020706 |
| Gene Name |
FtsJ RNA 2'-O-methyltransferase 3 |
| Synonyms |
D11Ertd400e, C79843, Epcs3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL02340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106139968-106146905 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 106143972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 251
(R251*)
|
| 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 null
Transcript: ENSMUST00000021048
AA Change: R251*
|
| SMART Domains |
Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: R251*
| 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: ENSMUST00000143884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154635
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
A |
7: 27,328,824 (GRCm39) |
I182N |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,728,255 (GRCm39) |
T462A |
probably benign |
Het |
| Amz1 |
A |
G |
5: 140,738,014 (GRCm39) |
R425G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,217,201 (GRCm39) |
E428G |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Chchd6 |
A |
T |
6: 89,396,762 (GRCm39) |
H216Q |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,675,086 (GRCm39) |
Y591C |
probably damaging |
Het |
| Cln8 |
T |
C |
8: 14,945,178 (GRCm39) |
L164S |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,581,474 (GRCm39) |
I431T |
possibly damaging |
Het |
| Fam234b |
T |
C |
6: 135,208,659 (GRCm39) |
L524P |
probably damaging |
Het |
| Fmo1 |
T |
C |
1: 162,660,559 (GRCm39) |
N410S |
probably benign |
Het |
| Greb1l |
A |
T |
18: 10,515,200 (GRCm39) |
D555V |
probably damaging |
Het |
| Hcar1 |
G |
T |
5: 124,017,135 (GRCm39) |
H185Q |
probably damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,960,319 (GRCm39) |
V206I |
probably benign |
Het |
| Lamc3 |
G |
A |
2: 31,808,469 (GRCm39) |
G742S |
probably damaging |
Het |
| Lipg |
T |
C |
18: 75,093,946 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
G |
12: 84,839,729 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
T |
G |
10: 76,332,386 (GRCm39) |
Y1234* |
probably null |
Het |
| Myh6 |
T |
A |
14: 55,194,612 (GRCm39) |
D719V |
possibly damaging |
Het |
| Myo9b |
A |
G |
8: 71,743,689 (GRCm39) |
N250S |
probably damaging |
Het |
| Nherf1 |
A |
G |
11: 115,070,858 (GRCm39) |
E270G |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,054,652 (GRCm39) |
W2438* |
probably null |
Het |
| Nphp1 |
G |
A |
2: 127,621,987 (GRCm39) |
Q47* |
probably null |
Het |
| Nptx2 |
T |
C |
5: 144,493,056 (GRCm39) |
L381P |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,171,402 (GRCm39) |
N911S |
possibly damaging |
Het |
| Or10j2 |
A |
T |
1: 173,097,972 (GRCm39) |
I77F |
probably benign |
Het |
| Or5d46 |
T |
C |
2: 88,169,906 (GRCm39) |
|
probably benign |
Het |
| P4ha1 |
T |
A |
10: 59,188,023 (GRCm39) |
F260Y |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,268,676 (GRCm39) |
D504G |
probably damaging |
Het |
| Prss54 |
A |
G |
8: 96,292,237 (GRCm39) |
V114A |
probably benign |
Het |
| Ptprc |
G |
A |
1: 137,998,957 (GRCm39) |
T1031M |
probably damaging |
Het |
| Rtf2 |
T |
C |
2: 172,310,511 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,777,349 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
C |
T |
18: 78,206,341 (GRCm39) |
E492K |
probably damaging |
Het |
| Stab1 |
G |
T |
14: 30,862,367 (GRCm39) |
N2322K |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 130,087,369 (GRCm39) |
N1162S |
probably benign |
Het |
| Tmprss11b |
T |
C |
5: 86,810,090 (GRCm39) |
I297V |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,972,775 (GRCm39) |
N276D |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,428,118 (GRCm39) |
|
probably benign |
Het |
| Vmn1r115 |
T |
A |
7: 20,578,453 (GRCm39) |
H153L |
possibly damaging |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,997 (GRCm39) |
C259* |
probably null |
Het |
| Xpot |
T |
A |
10: 121,451,109 (GRCm39) |
E97V |
probably damaging |
Het |
| Zbtb2 |
T |
C |
10: 4,318,712 (GRCm39) |
D438G |
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 |
|
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 |
|
R6047:Ftsj3
|
UTSW |
11 |
106,143,144 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation