Incidental Mutation 'IGL02964:Ftsj3'
| ID |
365465 |
| 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 # |
IGL02964
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106139968-106146905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106143163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 384
(K384E)
|
| 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: K384E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: K384E
| 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
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,242,636 (GRCm39) |
I1364V |
possibly damaging |
Het |
| Adamts19 |
T |
A |
18: 59,122,037 (GRCm39) |
I813K |
probably damaging |
Het |
| Adamtsl1 |
G |
T |
4: 86,342,594 (GRCm39) |
C1703F |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,658,303 (GRCm39) |
T536S |
probably damaging |
Het |
| Capg |
T |
A |
6: 72,539,827 (GRCm39) |
I340N |
probably damaging |
Het |
| Casc3 |
T |
A |
11: 98,719,749 (GRCm39) |
M567K |
probably damaging |
Het |
| Chmp1a |
T |
C |
8: 123,934,806 (GRCm39) |
E50G |
probably damaging |
Het |
| Cryba1 |
T |
C |
11: 77,610,207 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,965,735 (GRCm39) |
Y2356N |
probably damaging |
Het |
| Ercc6 |
T |
G |
14: 32,292,060 (GRCm39) |
S1141R |
probably benign |
Het |
| Exd2 |
T |
A |
12: 80,527,302 (GRCm39) |
V165D |
probably damaging |
Het |
| Fbln1 |
A |
T |
15: 85,115,663 (GRCm39) |
E233V |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,439,962 (GRCm39) |
I188V |
probably benign |
Het |
| Gm42742 |
A |
T |
7: 126,616,018 (GRCm39) |
S26T |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,759,542 (GRCm39) |
D449E |
probably damaging |
Het |
| Igfbp7 |
C |
T |
5: 77,499,188 (GRCm39) |
S239N |
possibly damaging |
Het |
| Klf11 |
C |
T |
12: 24,705,626 (GRCm39) |
A360V |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,672,098 (GRCm39) |
|
probably benign |
Het |
| Magea8 |
A |
T |
X: 153,769,678 (GRCm39) |
C144S |
probably damaging |
Het |
| Med4 |
A |
G |
14: 73,755,361 (GRCm39) |
Q223R |
probably damaging |
Het |
| Mmd2 |
G |
T |
5: 142,555,232 (GRCm39) |
F153L |
probably damaging |
Het |
| Nav3 |
C |
A |
10: 109,572,814 (GRCm39) |
R1615L |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,902,769 (GRCm39) |
|
probably benign |
Het |
| Nr1i3 |
A |
T |
1: 171,041,964 (GRCm39) |
Y16F |
probably benign |
Het |
| Or5w1 |
C |
A |
2: 87,487,058 (GRCm39) |
C69F |
probably damaging |
Het |
| Or7e169 |
G |
A |
9: 19,757,550 (GRCm39) |
R122* |
probably null |
Het |
| Or7g16 |
A |
G |
9: 18,727,024 (GRCm39) |
C189R |
probably damaging |
Het |
| Or8g34 |
A |
G |
9: 39,373,077 (GRCm39) |
T117A |
possibly damaging |
Het |
| Ppil6 |
C |
A |
10: 41,383,479 (GRCm39) |
H252N |
probably benign |
Het |
| Ppp6r2 |
C |
T |
15: 89,143,378 (GRCm39) |
P175L |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,095 (GRCm39) |
Y90* |
probably null |
Het |
| Rbm20 |
C |
A |
19: 53,802,133 (GRCm39) |
L214I |
probably benign |
Het |
| Rhox2f |
T |
C |
X: 36,753,334 (GRCm39) |
V24A |
probably benign |
Het |
| Scnm1 |
T |
C |
3: 95,040,348 (GRCm39) |
K96E |
probably benign |
Het |
| Sec16a |
A |
C |
2: 26,309,735 (GRCm39) |
D2090E |
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,821,576 (GRCm39) |
|
probably null |
Het |
| Snx2 |
T |
C |
18: 53,327,630 (GRCm39) |
S119P |
probably benign |
Het |
| Stam |
A |
G |
2: 14,120,779 (GRCm39) |
|
probably benign |
Het |
| Sult2b1 |
T |
A |
7: 45,384,698 (GRCm39) |
E126V |
probably benign |
Het |
| Tor1aip1 |
T |
C |
1: 155,911,590 (GRCm39) |
E131G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,619,040 (GRCm39) |
C14367Y |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,135,131 (GRCm39) |
F821S |
possibly damaging |
Het |
| Vmn1r32 |
T |
C |
6: 66,529,922 (GRCm39) |
N285D |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,741 (GRCm39) |
L698P |
possibly damaging |
Het |
| Wnt8a |
T |
A |
18: 34,675,474 (GRCm39) |
L18Q |
possibly damaging |
Het |
| Zfp747 |
T |
C |
7: 126,973,666 (GRCm39) |
E168G |
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 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation