Incidental Mutation 'R8287:Foxj2'
| ID |
638486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxj2
|
| Ensembl Gene |
ENSMUSG00000003154 |
| Gene Name |
forkhead box J2 |
| Synonyms |
Fhx |
| MMRRC Submission |
067709-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.510)
|
| Stock # |
R8287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
122797143-122822325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 122805226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 33
(A33T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003238]
[ENSMUST00000177927]
[ENSMUST00000203075]
|
| AlphaFold |
Q9ES18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003238
AA Change: A33T
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000003238
Gene: ENSMUSG00000003154
AA Change: A33T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
FH
|
64 |
153 |
1.77e-47 |
SMART |
|
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177927
AA Change: A33T
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137645
Gene: ENSMUSG00000003154
AA Change: A33T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
FH
|
64 |
153 |
1.77e-47 |
SMART |
|
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203075
AA Change: A33T
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145438
Gene: ENSMUSG00000003154
AA Change: A33T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
FH
|
64 |
153 |
7.8e-50 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (27/27) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,220,852 (GRCm39) |
|
probably null |
Het |
| Apcs |
T |
G |
1: 172,721,814 (GRCm39) |
L177F |
possibly damaging |
Het |
| Arsa |
G |
T |
15: 89,357,593 (GRCm39) |
H457N |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,170,799 (GRCm39) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,917,735 (GRCm39) |
Y419C |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,225 (GRCm39) |
D417G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,585,775 (GRCm39) |
S1133P |
probably damaging |
Het |
| Cops2 |
T |
A |
2: 125,701,037 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,899 (GRCm39) |
M472L |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,214,453 (GRCm39) |
Q379L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,534,560 (GRCm39) |
I2019V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,866,157 (GRCm39) |
Y1241C |
unknown |
Het |
| Dock8 |
T |
C |
19: 25,107,825 (GRCm39) |
Y852H |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,739,653 (GRCm39) |
Y83F |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Gm14180 |
A |
G |
11: 99,625,068 (GRCm39) |
S17P |
unknown |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,265 (GRCm39) |
Q437R |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,430 (GRCm39) |
D707G |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,323,883 (GRCm39) |
Q509R |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,201,258 (GRCm39) |
V214A |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,633 (GRCm39) |
T14A |
probably benign |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,398,880 (GRCm39) |
M2109K |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,660,129 (GRCm39) |
H722R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,308,588 (GRCm39) |
N555S |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zscan18 |
T |
G |
7: 12,509,298 (GRCm39) |
K67N |
unknown |
Het |
|
| Other mutations in Foxj2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Foxj2
|
APN |
6 |
122,816,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01100:Foxj2
|
APN |
6 |
122,805,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02169:Foxj2
|
APN |
6 |
122,805,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02220:Foxj2
|
APN |
6 |
122,815,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL02423:Foxj2
|
APN |
6 |
122,819,732 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03026:Foxj2
|
APN |
6 |
122,815,139 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03198:Foxj2
|
APN |
6 |
122,809,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0400:Foxj2
|
UTSW |
6 |
122,810,767 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1572:Foxj2
|
UTSW |
6 |
122,810,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2063:Foxj2
|
UTSW |
6 |
122,817,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2568:Foxj2
|
UTSW |
6 |
122,805,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Foxj2
|
UTSW |
6 |
122,819,791 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4745:Foxj2
|
UTSW |
6 |
122,814,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4764:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4765:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4775:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5056:Foxj2
|
UTSW |
6 |
122,810,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5816:Foxj2
|
UTSW |
6 |
122,810,695 (GRCm39) |
missense |
probably benign |
|
|
R6254:Foxj2
|
UTSW |
6 |
122,815,098 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6265:Foxj2
|
UTSW |
6 |
122,805,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6540:Foxj2
|
UTSW |
6 |
122,810,202 (GRCm39) |
missense |
probably benign |
|
|
R6882:Foxj2
|
UTSW |
6 |
122,805,464 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6981:Foxj2
|
UTSW |
6 |
122,819,798 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6981:Foxj2
|
UTSW |
6 |
122,805,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Foxj2
|
UTSW |
6 |
122,817,190 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7475:Foxj2
|
UTSW |
6 |
122,814,801 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8075:Foxj2
|
UTSW |
6 |
122,815,055 (GRCm39) |
nonsense |
probably null |
|
|
R8320:Foxj2
|
UTSW |
6 |
122,810,649 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8511:Foxj2
|
UTSW |
6 |
122,808,404 (GRCm39) |
nonsense |
probably null |
|
|
R9498:Foxj2
|
UTSW |
6 |
122,819,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Foxj2
|
UTSW |
6 |
122,810,670 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Foxj2
|
UTSW |
6 |
122,809,895 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAACAGGGCTGGTGAGATG -3'
(R):5'- AGAGTCATCTTCTTAGCTGGGG -3'
Sequencing Primer
(F):5'- CTGAAGACAGCTGCAGTGTACTTAC -3'
(R):5'- CATCTTCTTAGCTGGGGAGGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation