Incidental Mutation 'IGL01101:Ftsj3'
| ID |
52296 |
| 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: 0.971)
|
| Stock # |
IGL01101
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106139968-106146905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106146458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 7
(V7A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021048]
[ENSMUST00000021049]
[ENSMUST00000133131]
|
| AlphaFold |
Q9DBE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021048
AA Change: V7A
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: V7A
| 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: ENSMUST00000083228
|
| 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
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,241,923 (GRCm39) |
D695V |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,990,251 (GRCm39) |
|
probably benign |
Het |
| Akap4 |
T |
A |
X: 6,942,423 (GRCm39) |
M242K |
probably benign |
Het |
| Cd207 |
T |
C |
6: 83,652,839 (GRCm39) |
D97G |
probably benign |
Het |
| Cdc20 |
A |
G |
4: 118,292,749 (GRCm39) |
V333A |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,865,948 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
T |
A |
1: 139,481,322 (GRCm39) |
Y186F |
probably benign |
Het |
| Cnbd1 |
T |
A |
4: 18,907,098 (GRCm39) |
I159F |
probably benign |
Het |
| Cyp2j11 |
A |
C |
4: 96,227,332 (GRCm39) |
M228R |
probably benign |
Het |
| Dach1 |
C |
A |
14: 98,077,640 (GRCm39) |
S581I |
possibly damaging |
Het |
| Dbnl |
A |
G |
11: 5,743,722 (GRCm39) |
D71G |
possibly damaging |
Het |
| F8 |
T |
A |
X: 74,330,993 (GRCm39) |
T966S |
possibly damaging |
Het |
| Filip1 |
T |
A |
9: 79,805,528 (GRCm39) |
L75F |
probably benign |
Het |
| Foxi2 |
A |
G |
7: 135,013,736 (GRCm39) |
Y322C |
probably benign |
Het |
| Gm8362 |
A |
T |
14: 18,145,196 (GRCm39) |
S204T |
probably benign |
Het |
| Ibtk |
C |
A |
9: 85,614,675 (GRCm39) |
|
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,964,600 (GRCm39) |
V267I |
possibly damaging |
Het |
| Mmp27 |
T |
A |
9: 7,573,416 (GRCm39) |
D169E |
probably damaging |
Het |
| Or10ag53 |
C |
A |
2: 87,082,806 (GRCm39) |
T175K |
probably damaging |
Het |
| Or4a74 |
C |
T |
2: 89,440,191 (GRCm39) |
C85Y |
probably benign |
Het |
| Or4k1 |
A |
T |
14: 50,377,511 (GRCm39) |
M195K |
probably benign |
Het |
| P4ha2 |
G |
T |
11: 54,010,131 (GRCm39) |
C296F |
probably damaging |
Het |
| Scart2 |
A |
T |
7: 139,876,017 (GRCm39) |
Q543L |
probably benign |
Het |
| Slc38a5 |
T |
C |
X: 8,137,750 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
G |
T |
8: 46,198,460 (GRCm39) |
R36L |
possibly damaging |
Het |
| Tmem207 |
A |
C |
16: 26,336,627 (GRCm39) |
Y42* |
probably null |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,971 (GRCm39) |
R286K |
probably benign |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation