Incidental Mutation 'R4086:Ftsj3'
ID |
317380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ftsj3
|
Ensembl Gene |
ENSMUSG00000020706 |
Gene Name |
FtsJ RNA 2'-O-methyltransferase 3 |
Synonyms |
D11Ertd400e, C79843, Epcs3 |
MMRRC Submission |
041625-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R4086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106139968-106146905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106140395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 791
(Y791C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021046]
[ENSMUST00000021048]
|
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: Y791C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021048 Gene: ENSMUSG00000020706 AA Change: Y791C
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 |
noncoding transcript
Transcript: ENSMUST00000126938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127803
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154635
|
Meta Mutation Damage Score |
0.6262 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd7 |
G |
A |
2: 3,341,488 (GRCm39) |
|
probably null |
Het |
Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,042,414 (GRCm39) |
D427G |
probably benign |
Het |
Adrm1 |
A |
G |
2: 179,814,627 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,233,984 (GRCm39) |
I1103M |
probably benign |
Het |
Arhgap32 |
A |
C |
9: 32,158,362 (GRCm39) |
|
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,103,712 (GRCm39) |
R767G |
probably damaging |
Het |
BC046251 |
A |
G |
7: 65,231,896 (GRCm39) |
|
noncoding transcript |
Het |
Brwd1 |
T |
C |
16: 95,847,572 (GRCm39) |
S683G |
probably benign |
Het |
Calcoco1 |
C |
G |
15: 102,618,834 (GRCm39) |
|
probably benign |
Het |
Carmil1 |
G |
T |
13: 24,208,444 (GRCm39) |
P834T |
possibly damaging |
Het |
Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
Col24a1 |
G |
A |
3: 145,167,192 (GRCm39) |
G1090R |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
Ets2 |
C |
A |
16: 95,510,833 (GRCm39) |
D30E |
probably damaging |
Het |
Fam181b |
T |
C |
7: 92,729,788 (GRCm39) |
V187A |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fbxo41 |
C |
T |
6: 85,455,528 (GRCm39) |
R552Q |
possibly damaging |
Het |
Fstl5 |
G |
T |
3: 76,555,593 (GRCm39) |
C53F |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm15446 |
A |
G |
5: 110,091,121 (GRCm39) |
K458E |
probably benign |
Het |
Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
Ipo9 |
A |
G |
1: 135,316,428 (GRCm39) |
|
probably benign |
Het |
Krtap31-1 |
C |
T |
11: 99,799,145 (GRCm39) |
T116I |
possibly damaging |
Het |
Mafa |
T |
G |
15: 75,618,986 (GRCm39) |
K262N |
probably damaging |
Het |
Nxph4 |
T |
C |
10: 127,362,555 (GRCm39) |
Y112C |
probably damaging |
Het |
Or5ak4 |
C |
A |
2: 85,162,170 (GRCm39) |
W24L |
probably benign |
Het |
Or6c70 |
A |
G |
10: 129,710,167 (GRCm39) |
V153A |
possibly damaging |
Het |
Pgls |
G |
A |
8: 72,048,734 (GRCm39) |
A142T |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,274,891 (GRCm39) |
I885V |
probably benign |
Het |
Prkcq |
A |
G |
2: 11,288,679 (GRCm39) |
D544G |
probably damaging |
Het |
Rnf44 |
T |
C |
13: 54,830,148 (GRCm39) |
N254D |
possibly damaging |
Het |
Septin10 |
A |
T |
10: 59,028,045 (GRCm39) |
L92* |
probably null |
Het |
Slc14a2 |
A |
T |
18: 78,248,998 (GRCm39) |
I156N |
probably damaging |
Het |
Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
Thap12 |
A |
G |
7: 98,365,701 (GRCm39) |
D623G |
possibly damaging |
Het |
Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
Ube2u |
T |
A |
4: 100,407,039 (GRCm39) |
I187N |
probably benign |
Het |
Vmn1r90 |
G |
A |
7: 14,297,219 (GRCm39) |
|
probably benign |
Het |
Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
Xpo4 |
C |
T |
14: 57,880,490 (GRCm39) |
|
probably benign |
Het |
Zbtb21 |
A |
T |
16: 97,753,963 (GRCm39) |
Y135N |
probably damaging |
Het |
Zbtb22 |
T |
A |
17: 34,137,142 (GRCm39) |
V429D |
probably damaging |
Het |
Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
Zhx1 |
T |
C |
15: 57,916,317 (GRCm39) |
E643G |
possibly damaging |
Het |
Zzef1 |
C |
T |
11: 72,765,879 (GRCm39) |
H1469Y |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTAGCAGCTCTCCCAATCC -3'
(R):5'- CAGTGGACATCTCAGAACGG -3'
Sequencing Primer
(F):5'- GCCTCCAGAGAGAACTGTAC -3'
(R):5'- CATCTCAGAACGGGAAAAGGTG -3'
|
Posted On |
2015-05-15 |