Incidental Mutation 'IGL03216:Foxj3'
| ID |
413497 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxj3
|
| Ensembl Gene |
ENSMUSG00000032998 |
| Gene Name |
forkhead box J3 |
| Synonyms |
C330039G02Rik, Fhd6 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.482)
|
| Stock # |
IGL03216
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
119396858-119486316 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 119467180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044564]
[ENSMUST00000106310]
|
| AlphaFold |
Q8BUR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044564
|
| SMART Domains |
Protein: ENSMUSP00000035746
Gene: ENSMUSG00000032998
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
76 |
164 |
6.03e-50 |
SMART |
|
low complexity region
|
226 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
620 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106310
|
| SMART Domains |
Protein: ENSMUSP00000101917
Gene: ENSMUSG00000032998
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
76 |
164 |
6.03e-50 |
SMART |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
586 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice have an abnormal skeletal muscle fiber type ratio in males as well as defects in muscle regeneration following injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano10 |
A |
T |
9: 122,086,127 (GRCm39) |
Y491N |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,558,840 (GRCm39) |
F709L |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,439,944 (GRCm38) |
I1196T |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,190,153 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,736,373 (GRCm39) |
C2888S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,932 (GRCm39) |
T46A |
possibly damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,677,462 (GRCm39) |
M76V |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,976,748 (GRCm39) |
D653E |
probably benign |
Het |
| Gm21985 |
T |
A |
2: 112,097,281 (GRCm39) |
S39T |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,386,228 (GRCm39) |
D3727V |
probably benign |
Het |
| Ifi208 |
A |
T |
1: 173,506,507 (GRCm39) |
T97S |
possibly damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,836 (GRCm39) |
E709G |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,723,208 (GRCm39) |
H361Q |
probably benign |
Het |
| Mr1 |
T |
A |
1: 155,005,035 (GRCm39) |
N335I |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,351,582 (GRCm39) |
F684I |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,455,721 (GRCm39) |
I2544F |
probably benign |
Het |
| Or6c1b |
A |
G |
10: 129,272,806 (GRCm39) |
T42A |
probably damaging |
Het |
| Pnp2 |
T |
G |
14: 51,200,654 (GRCm39) |
S107A |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,132,955 (GRCm39) |
I184V |
probably damaging |
Het |
| Slc6a19 |
T |
G |
13: 73,834,300 (GRCm39) |
M301L |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,446,287 (GRCm39) |
Y471C |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,989,735 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,624,553 (GRCm39) |
C1799Y |
probably damaging |
Het |
| Tex55 |
T |
C |
16: 38,649,052 (GRCm39) |
D19G |
possibly damaging |
Het |
| Trmt6 |
T |
C |
2: 132,650,618 (GRCm39) |
N330S |
probably null |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,077 (GRCm39) |
V770A |
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,042,840 (GRCm39) |
D462G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,393 (GRCm39) |
H1883R |
probably damaging |
Het |
| Ubxn10 |
C |
T |
4: 138,448,050 (GRCm39) |
V209M |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,002 (GRCm39) |
T540A |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,600,756 (GRCm39) |
R685W |
probably damaging |
Het |
| Vps4a |
C |
T |
8: 107,763,335 (GRCm39) |
R30C |
probably damaging |
Het |
| Xpo6 |
A |
G |
7: 125,703,985 (GRCm39) |
V1055A |
probably damaging |
Het |
| Zfp445 |
C |
T |
9: 122,681,043 (GRCm39) |
C966Y |
probably damaging |
Het |
|
| Other mutations in Foxj3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01072:Foxj3
|
APN |
4 |
119,467,226 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01452:Foxj3
|
APN |
4 |
119,478,825 (GRCm39) |
missense |
unknown |
|
|
IGL02056:Foxj3
|
APN |
4 |
119,442,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02455:Foxj3
|
APN |
4 |
119,477,434 (GRCm39) |
missense |
unknown |
|
|
IGL02542:Foxj3
|
APN |
4 |
119,477,540 (GRCm39) |
missense |
unknown |
|
|
IGL02625:Foxj3
|
APN |
4 |
119,482,114 (GRCm39) |
missense |
unknown |
|
|
R0087:Foxj3
|
UTSW |
4 |
119,483,597 (GRCm39) |
missense |
unknown |
|
|
R0488:Foxj3
|
UTSW |
4 |
119,477,187 (GRCm39) |
nonsense |
probably null |
|
|
R0512:Foxj3
|
UTSW |
4 |
119,443,033 (GRCm39) |
splice site |
probably benign |
|
|
R1531:Foxj3
|
UTSW |
4 |
119,477,398 (GRCm39) |
missense |
unknown |
|
|
R1799:Foxj3
|
UTSW |
4 |
119,476,548 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1883:Foxj3
|
UTSW |
4 |
119,467,226 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3690:Foxj3
|
UTSW |
4 |
119,473,839 (GRCm39) |
splice site |
probably benign |
|
|
R3691:Foxj3
|
UTSW |
4 |
119,473,839 (GRCm39) |
splice site |
probably benign |
|
|
R3838:Foxj3
|
UTSW |
4 |
119,473,821 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4065:Foxj3
|
UTSW |
4 |
119,467,206 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4295:Foxj3
|
UTSW |
4 |
119,483,494 (GRCm39) |
nonsense |
probably null |
|
|
R4576:Foxj3
|
UTSW |
4 |
119,478,860 (GRCm39) |
missense |
unknown |
|
|
R4750:Foxj3
|
UTSW |
4 |
119,473,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4782:Foxj3
|
UTSW |
4 |
119,478,857 (GRCm39) |
missense |
unknown |
|
|
R4799:Foxj3
|
UTSW |
4 |
119,478,857 (GRCm39) |
missense |
unknown |
|
|
R5305:Foxj3
|
UTSW |
4 |
119,477,155 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5358:Foxj3
|
UTSW |
4 |
119,476,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Foxj3
|
UTSW |
4 |
119,477,340 (GRCm39) |
missense |
unknown |
|
|
R5728:Foxj3
|
UTSW |
4 |
119,430,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5732:Foxj3
|
UTSW |
4 |
119,443,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Foxj3
|
UTSW |
4 |
119,480,468 (GRCm39) |
missense |
unknown |
|
|
R6352:Foxj3
|
UTSW |
4 |
119,442,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6377:Foxj3
|
UTSW |
4 |
119,430,945 (GRCm39) |
splice site |
probably null |
|
|
R7034:Foxj3
|
UTSW |
4 |
119,476,497 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7672:Foxj3
|
UTSW |
4 |
119,477,429 (GRCm39) |
missense |
unknown |
|
|
R7912:Foxj3
|
UTSW |
4 |
119,477,252 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8215:Foxj3
|
UTSW |
4 |
119,478,808 (GRCm39) |
missense |
unknown |
|
|
R9190:Foxj3
|
UTSW |
4 |
119,477,538 (GRCm39) |
nonsense |
probably null |
|
|
R9624:Foxj3
|
UTSW |
4 |
119,483,589 (GRCm39) |
missense |
unknown |
|
|
R9762:Foxj3
|
UTSW |
4 |
119,483,540 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation