Incidental Mutation 'R4356:Ftsj3'
ID |
327563 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ftsj3
|
Ensembl Gene |
ENSMUSG00000020706 |
Gene Name |
FtsJ RNA 2'-O-methyltransferase 3 |
Synonyms |
D11Ertd400e, C79843, Epcs3 |
MMRRC Submission |
041669-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R4356 (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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (58/58) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
T |
A |
3: 59,843,701 (GRCm39) |
Y132N |
probably damaging |
Het |
Adam21 |
T |
C |
12: 81,605,594 (GRCm39) |
T723A |
probably damaging |
Het |
Alox5 |
C |
T |
6: 116,397,219 (GRCm39) |
V322I |
probably benign |
Het |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,776,096 (GRCm39) |
K1482* |
probably null |
Het |
Cacna1e |
A |
C |
1: 154,319,727 (GRCm39) |
D1324E |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,392,213 (GRCm39) |
D657G |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,863,028 (GRCm39) |
S1335P |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,660,048 (GRCm39) |
K621N |
probably damaging |
Het |
Cspg5 |
A |
G |
9: 110,085,245 (GRCm39) |
D391G |
probably damaging |
Het |
Defa30 |
A |
T |
8: 21,624,821 (GRCm39) |
D48V |
possibly damaging |
Het |
E2f7 |
T |
C |
10: 110,595,712 (GRCm39) |
Y136H |
probably damaging |
Het |
Fam3d |
A |
G |
14: 8,349,314 (GRCm38) |
L212P |
probably damaging |
Het |
Fbxw25 |
A |
T |
9: 109,491,153 (GRCm39) |
C122S |
probably damaging |
Het |
Fgg |
A |
T |
3: 82,920,250 (GRCm39) |
D343V |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,922,700 (GRCm38) |
M1712K |
probably benign |
Het |
Fnbp4 |
T |
C |
2: 90,588,683 (GRCm39) |
S485P |
probably damaging |
Het |
Gast |
C |
A |
11: 100,227,373 (GRCm39) |
S22Y |
probably damaging |
Het |
Gm20834 |
T |
A |
Y: 10,322,962 (GRCm39) |
H158L |
possibly damaging |
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 |
Impg2 |
C |
T |
16: 56,080,527 (GRCm39) |
T777I |
probably damaging |
Het |
Kif11 |
C |
A |
19: 37,399,883 (GRCm39) |
T790K |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,703,802 (GRCm39) |
D264G |
probably benign |
Het |
Nipsnap3a |
T |
C |
4: 52,995,979 (GRCm39) |
|
probably null |
Het |
Or10al3 |
G |
T |
17: 38,011,790 (GRCm39) |
E76D |
probably damaging |
Het |
Or5w14 |
G |
A |
2: 87,542,229 (GRCm39) |
S7F |
possibly damaging |
Het |
P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
Pcdhga4 |
C |
T |
18: 37,820,664 (GRCm39) |
H738Y |
probably damaging |
Het |
Prickle2 |
A |
T |
6: 92,388,490 (GRCm39) |
I304K |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,444,225 (GRCm39) |
Y1460N |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,833,735 (GRCm39) |
D812G |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,278,427 (GRCm39) |
T737A |
possibly damaging |
Het |
Rbsn |
G |
A |
6: 92,184,029 (GRCm39) |
L95F |
possibly damaging |
Het |
Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,486,068 (GRCm39) |
N541K |
probably benign |
Het |
Scube3 |
G |
A |
17: 28,383,283 (GRCm39) |
G442S |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Smarcc1 |
A |
G |
9: 110,025,324 (GRCm39) |
D667G |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,193,113 (GRCm39) |
|
probably null |
Het |
Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
Sun3 |
A |
G |
11: 8,966,328 (GRCm39) |
V231A |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,499,910 (GRCm39) |
D108E |
probably benign |
Het |
Xdh |
A |
G |
17: 74,222,685 (GRCm39) |
V560A |
probably benign |
Het |
Zfp352 |
T |
A |
4: 90,112,071 (GRCm39) |
H70Q |
possibly damaging |
Het |
Zfp40 |
C |
A |
17: 23,396,164 (GRCm39) |
C73F |
probably benign |
Het |
Zfp975 |
A |
C |
7: 42,311,251 (GRCm39) |
L454R |
probably damaging |
Het |
Zik1 |
A |
T |
7: 10,224,268 (GRCm39) |
C276* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGTCTCACCTTGACAGAC -3'
(R):5'- CTTTCATTAGGCCCTGAGGAAGG -3'
Sequencing Primer
(F):5'- CAAAGATTTCTGCAGATTCATGGCG -3'
(R):5'- GAGCTGAAGACCTGGAAAGTTGATG -3'
|
Posted On |
2015-07-07 |