Incidental Mutation 'R4358:Ftsj3'
| ID |
324667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ftsj3
|
| Ensembl Gene |
ENSMUSG00000020706 |
| Gene Name |
FtsJ RNA 2'-O-methyltransferase 3 |
| Synonyms |
D11Ertd400e, C79843, Epcs3 |
| MMRRC Submission |
041110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R4358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106139968-106146905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106144502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 134
(A134V)
|
| 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 benign
Transcript: ENSMUST00000021048
AA Change: A134V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: A134V
| 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
|
| Meta Mutation Damage Score |
0.1316 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,926,663 (GRCm39) |
|
probably null |
Het |
| Chil3 |
G |
A |
3: 106,067,815 (GRCm39) |
Q117* |
probably null |
Het |
| Daglb |
T |
C |
5: 143,458,889 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,089,578 (GRCm39) |
R1163* |
probably null |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,380,946 (GRCm39) |
E507G |
probably benign |
Het |
| Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| L3hypdh |
A |
T |
12: 72,124,198 (GRCm39) |
D247E |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,860,489 (GRCm39) |
N2999K |
probably damaging |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Mcm9 |
A |
C |
10: 53,413,749 (GRCm39) |
C444G |
probably benign |
Het |
| Mecom |
G |
A |
3: 30,033,934 (GRCm39) |
Q246* |
probably null |
Het |
| Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
| Or2a7 |
T |
A |
6: 43,151,160 (GRCm39) |
M80K |
probably damaging |
Het |
| Or8g26 |
G |
A |
9: 39,095,864 (GRCm39) |
C127Y |
probably damaging |
Het |
| P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,862,744 (GRCm39) |
F617Y |
probably damaging |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Psmd13 |
G |
T |
7: 140,469,418 (GRCm39) |
|
probably benign |
Het |
| Pygl |
G |
A |
12: 70,242,464 (GRCm39) |
S573L |
probably damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,646,529 (GRCm39) |
V794A |
probably benign |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,315,861 (GRCm39) |
D555G |
probably damaging |
Het |
| Rptor |
G |
T |
11: 119,562,171 (GRCm39) |
E111D |
probably damaging |
Het |
| Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
| Scn4a |
G |
A |
11: 106,239,683 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
A |
15: 100,838,014 (GRCm39) |
A94T |
probably benign |
Het |
| Slc26a6 |
T |
A |
9: 108,738,982 (GRCm39) |
C636S |
probably benign |
Het |
| Slc38a11 |
T |
C |
2: 65,188,460 (GRCm39) |
K103R |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,202,381 (GRCm39) |
L675P |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Tmem132d |
G |
A |
5: 128,061,405 (GRCm39) |
T399M |
possibly damaging |
Het |
| Zfp939 |
A |
G |
7: 39,123,144 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp951 |
T |
C |
5: 104,962,541 (GRCm39) |
K342E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGCAGATTCATGGCGAG -3'
(R):5'- ACTGTGTTTCCATTGCTAGAACCC -3'
Sequencing Primer
(F):5'- ACAGCAAGGGCTGATAGT -3'
(R):5'- ACTTTCATTAGGCCCTGAGGAAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation