Incidental Mutation 'IGL03198:Foxj2'
ID |
412911 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Foxj2
|
Ensembl Gene |
ENSMUSG00000003154 |
Gene Name |
forkhead box J2 |
Synonyms |
Fhx |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.510)
|
Stock # |
IGL03198
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
122797143-122822325 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 122809966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003238]
[ENSMUST00000177927]
[ENSMUST00000203075]
|
AlphaFold |
Q9ES18 |
Predicted Effect |
probably null
Transcript: ENSMUST00000003238
|
SMART Domains |
Protein: ENSMUSP00000003238 Gene: ENSMUSG00000003154
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 |
probably null
Transcript: ENSMUST00000177927
|
SMART Domains |
Protein: ENSMUSP00000137645 Gene: ENSMUSG00000003154
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 |
noncoding transcript
Transcript: ENSMUST00000196252
|
Predicted Effect |
probably null
Transcript: ENSMUST00000203075
|
SMART Domains |
Protein: ENSMUSP00000145438 Gene: ENSMUSG00000003154
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
FH
|
64 |
153 |
7.8e-50 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adhfe1 |
A |
T |
1: 9,620,177 (GRCm39) |
|
probably benign |
Het |
Atp6v0a2 |
T |
C |
5: 124,789,425 (GRCm39) |
|
probably null |
Het |
Brca1 |
G |
T |
11: 101,403,537 (GRCm39) |
|
probably benign |
Het |
Cd55 |
A |
T |
1: 130,368,108 (GRCm39) |
C372S |
probably benign |
Het |
Clip2 |
A |
T |
5: 134,526,936 (GRCm39) |
|
probably benign |
Het |
Dgkb |
A |
G |
12: 38,186,615 (GRCm39) |
N262D |
probably damaging |
Het |
Fam227b |
C |
T |
2: 125,966,499 (GRCm39) |
|
probably null |
Het |
Gm4297 |
T |
A |
X: 24,418,810 (GRCm39) |
|
probably benign |
Het |
Grik3 |
A |
G |
4: 125,553,555 (GRCm39) |
D429G |
probably benign |
Het |
Hcfc1 |
T |
C |
X: 72,994,935 (GRCm39) |
I924V |
possibly damaging |
Het |
Lrrk1 |
A |
G |
7: 65,956,642 (GRCm39) |
V411A |
probably damaging |
Het |
Mdh1 |
A |
T |
11: 21,514,168 (GRCm39) |
V83E |
probably damaging |
Het |
Pa2g4 |
A |
G |
10: 128,401,647 (GRCm39) |
V17A |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Polg |
A |
G |
7: 79,101,470 (GRCm39) |
V1079A |
probably damaging |
Het |
Polr2a |
G |
T |
11: 69,638,107 (GRCm39) |
|
probably null |
Het |
Ptk2 |
C |
T |
15: 73,108,065 (GRCm39) |
S722N |
probably damaging |
Het |
Rock2 |
A |
G |
12: 17,025,508 (GRCm39) |
D1243G |
probably benign |
Het |
Sirt4 |
T |
C |
5: 115,621,061 (GRCm39) |
D37G |
probably benign |
Het |
Slc35d1 |
T |
C |
4: 103,042,085 (GRCm39) |
Y249C |
probably damaging |
Het |
Snrnp27 |
A |
T |
6: 86,659,968 (GRCm39) |
|
probably null |
Het |
Srek1 |
T |
C |
13: 103,881,443 (GRCm39) |
|
probably null |
Het |
Sspo |
A |
T |
6: 48,454,516 (GRCm39) |
I2951F |
probably benign |
Het |
Stxbp3 |
A |
G |
3: 108,734,405 (GRCm39) |
F40L |
probably damaging |
Het |
Sympk |
T |
C |
7: 18,778,921 (GRCm39) |
V604A |
possibly damaging |
Het |
Tbc1d2b |
T |
C |
9: 90,104,510 (GRCm39) |
Y544C |
probably damaging |
Het |
Tnpo2 |
C |
T |
8: 85,778,347 (GRCm39) |
T592I |
possibly damaging |
Het |
Txndc16 |
T |
C |
14: 45,388,941 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
T |
15: 38,045,964 (GRCm39) |
L120Q |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,847,844 (GRCm39) |
M836K |
probably damaging |
Het |
Wdr48 |
A |
G |
9: 119,741,479 (GRCm39) |
N141S |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,980,528 (GRCm39) |
Y28* |
probably null |
Het |
Zfp423 |
T |
C |
8: 88,508,304 (GRCm39) |
D659G |
possibly damaging |
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 |
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 |
|
R8287:Foxj2
|
UTSW |
6 |
122,805,226 (GRCm39) |
missense |
possibly damaging |
0.48 |
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 |
|
|
Posted On |
2016-08-02 |