Incidental Mutation 'IGL01370:Ftsj3'
| ID |
76086 |
| 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 # |
IGL01370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106139968-106146905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106143145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 390
(R390S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000021048
AA Change: R390S
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: R390S
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,423,503 (GRCm39) |
|
probably benign |
Het |
| Add1 |
C |
T |
5: 34,787,859 (GRCm39) |
T210I |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,969 (GRCm39) |
E314G |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,483,662 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ankrd36 |
C |
T |
11: 5,534,019 (GRCm39) |
T290I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,001,904 (GRCm39) |
I1283N |
probably benign |
Het |
| Castor2 |
T |
C |
5: 134,167,111 (GRCm39) |
V323A |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,731,250 (GRCm39) |
F709S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,801,426 (GRCm39) |
E197G |
probably damaging |
Het |
| Gabrb3 |
G |
A |
7: 57,466,226 (GRCm39) |
A347T |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,288,383 (GRCm39) |
|
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,438 (GRCm39) |
N489K |
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,658 (GRCm39) |
T51A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,193 (GRCm39) |
S772G |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,364,932 (GRCm39) |
|
probably null |
Het |
| Loxl3 |
A |
G |
6: 83,026,468 (GRCm39) |
T475A |
probably damaging |
Het |
| Lpl |
A |
T |
8: 69,340,220 (GRCm39) |
S72C |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,801,204 (GRCm39) |
I352F |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,887,585 (GRCm39) |
I334T |
possibly damaging |
Het |
| Mettl8 |
T |
G |
2: 70,812,383 (GRCm39) |
D49A |
probably damaging |
Het |
| Ms4a3 |
T |
A |
19: 11,610,245 (GRCm39) |
T106S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,886,389 (GRCm39) |
|
probably null |
Het |
| Or14j2 |
T |
C |
17: 37,885,412 (GRCm39) |
I301V |
probably null |
Het |
| Or1o11 |
C |
A |
17: 37,756,605 (GRCm39) |
H64Q |
probably benign |
Het |
| Or1p1c |
G |
A |
11: 74,160,325 (GRCm39) |
V37I |
probably benign |
Het |
| Or4n4 |
G |
T |
14: 50,519,689 (GRCm39) |
T7K |
probably damaging |
Het |
| Or5b107 |
A |
T |
19: 13,142,663 (GRCm39) |
Y95F |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,222 (GRCm39) |
K1333E |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,610,891 (GRCm39) |
F364L |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,155,531 (GRCm39) |
I2438F |
probably damaging |
Het |
| Plcb3 |
A |
C |
19: 6,940,192 (GRCm39) |
V465G |
probably damaging |
Het |
| Plekho2 |
G |
T |
9: 65,465,912 (GRCm39) |
H159N |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,872,681 (GRCm39) |
|
probably benign |
Het |
| Rab6b |
G |
T |
9: 103,041,094 (GRCm39) |
V163L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,816,607 (GRCm39) |
M597V |
probably benign |
Het |
| Rbm15 |
A |
G |
3: 107,238,326 (GRCm39) |
S691P |
probably damaging |
Het |
| Sec24b |
G |
A |
3: 129,801,253 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
A |
G |
13: 73,815,150 (GRCm39) |
I386T |
probably damaging |
Het |
| Stxbp3 |
A |
C |
3: 108,704,741 (GRCm39) |
Y497* |
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,615 (GRCm39) |
K353R |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,253 (GRCm39) |
H629Q |
probably damaging |
Het |
| Tbc1d5 |
T |
A |
17: 51,273,755 (GRCm39) |
I119F |
probably benign |
Het |
| Tcp11l1 |
G |
T |
2: 104,536,831 (GRCm39) |
D11E |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,009 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,884,018 (GRCm39) |
N325S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,327 (GRCm39) |
K91E |
possibly damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,715 (GRCm39) |
F763L |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,394,694 (GRCm39) |
E308G |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
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 |
|
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 |
2013-10-07 |
Incidental Mutation