Incidental Mutation 'PIT4581001:Ftsj3'
| ID |
556521 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4581001 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106139968-106146905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106140302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 822
(D822G)
|
| 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 |
unknown
Transcript: ENSMUST00000021048
AA Change: D822G
|
| SMART Domains |
Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: D822G
| 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 |
|
| Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,251,139 (GRCm39) |
H522R |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,626,666 (GRCm39) |
I724N |
probably damaging |
Het |
| Cdk2ap1rt |
A |
G |
11: 48,716,971 (GRCm39) |
I69T |
possibly damaging |
Het |
| Cstdc6 |
T |
C |
16: 36,143,294 (GRCm39) |
I52V |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,150,370 (GRCm39) |
C210S |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,442,652 (GRCm39) |
E365G |
probably damaging |
Het |
| Dbi |
A |
T |
1: 120,047,642 (GRCm39) |
V85E |
probably damaging |
Het |
| Dhrs7b |
A |
G |
11: 60,742,723 (GRCm39) |
I153M |
possibly damaging |
Het |
| Dock10 |
C |
A |
1: 80,483,163 (GRCm39) |
C2096F |
probably damaging |
Het |
| Eid3 |
T |
A |
10: 82,703,589 (GRCm39) |
I350K |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,434 (GRCm39) |
F890I |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,703,160 (GRCm39) |
D308N |
probably benign |
Het |
| Gabra5 |
T |
C |
7: 57,138,605 (GRCm39) |
T148A |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,430,011 (GRCm39) |
D526G |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,350 (GRCm39) |
T79S |
probably benign |
Het |
| Gon4l |
T |
G |
3: 88,802,821 (GRCm39) |
V1144G |
probably damaging |
Het |
| Ighv1-24 |
A |
T |
12: 114,736,803 (GRCm39) |
N32K |
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,484 (GRCm39) |
N341S |
possibly damaging |
Het |
| Mybph |
A |
G |
1: 134,122,479 (GRCm39) |
T175A |
probably benign |
Het |
| Mycn |
T |
C |
12: 12,990,244 (GRCm39) |
K51E |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,262,906 (GRCm39) |
N1763D |
probably benign |
Het |
| Myrip |
T |
C |
9: 120,296,583 (GRCm39) |
S831P |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,178,814 (GRCm39) |
A1314E |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,011,778 (GRCm39) |
Y599H |
probably damaging |
Het |
| Npr1 |
C |
A |
3: 90,369,564 (GRCm39) |
G387V |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,995 (GRCm39) |
D119V |
probably damaging |
Het |
| Orai2 |
G |
A |
5: 136,179,364 (GRCm39) |
T223M |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,910 (GRCm39) |
E786G |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,576,374 (GRCm39) |
T749A |
probably benign |
Het |
| Pdzrn3 |
A |
G |
6: 101,128,464 (GRCm39) |
V734A |
probably benign |
Het |
| Pkd1l1 |
GCC |
GCCC |
11: 8,866,298 (GRCm39) |
|
probably null |
Het |
| Recql5 |
C |
A |
11: 115,823,682 (GRCm39) |
K21N |
possibly damaging |
Het |
| Rimbp3 |
G |
A |
16: 17,028,580 (GRCm39) |
S668N |
possibly damaging |
Het |
| Sdr42e1 |
A |
T |
8: 118,390,257 (GRCm39) |
I128N |
probably damaging |
Het |
| Shprh |
TAAAA |
T |
10: 11,068,238 (GRCm39) |
|
probably null |
Het |
| Slc15a2 |
A |
T |
16: 36,592,405 (GRCm39) |
C251S |
probably benign |
Het |
| Slc17a4 |
A |
T |
13: 24,086,001 (GRCm39) |
S329T |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,669,501 (GRCm39) |
V246A |
possibly damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,148,701 (GRCm39) |
S260R |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,351,050 (GRCm39) |
I177L |
possibly damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,020,417 (GRCm39) |
V345A |
|
Het |
| Tmod2 |
T |
C |
9: 75,504,583 (GRCm39) |
Y12C |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,893,790 (GRCm39) |
W1035R |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,618,974 (GRCm39) |
S126P |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,564,305 (GRCm39) |
S28576P |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,858 (GRCm39) |
W255R |
probably benign |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,348 (GRCm39) |
K407* |
probably null |
Het |
| Vps13b |
G |
T |
15: 35,534,409 (GRCm39) |
W908C |
probably damaging |
Het |
| Ykt6 |
A |
G |
11: 5,912,747 (GRCm39) |
K150E |
possibly damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,265 (GRCm39) |
Y254H |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,956,503 (GRCm39) |
S832P |
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,465,949 (GRCm39) |
S108P |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,796,756 (GRCm39) |
F727L |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,790,498 (GRCm39) |
V2151I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTTTCCTCAGTGCTTTCATGG -3'
(R):5'- CAGCTGCGAAGGTGATTTGG -3'
Sequencing Primer
(F):5'- TGGTACTCCTCTGTAGCAGC -3'
(R):5'- TCTAGAGAGCAGACCTTTTAACCTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation