Incidental Mutation 'IGL02542:Foxj3'
| ID |
297714 |
| 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 # |
IGL02542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
119396858-119486316 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119477540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 416
(N416S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044564]
[ENSMUST00000106310]
|
| AlphaFold |
Q8BUR3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000044564
AA Change: N450S
|
| SMART Domains |
Protein: ENSMUSP00000035746
Gene: ENSMUSG00000032998
AA Change: N450S
| 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 |
unknown
Transcript: ENSMUST00000106310
AA Change: N416S
|
| SMART Domains |
Protein: ENSMUSP00000101917
Gene: ENSMUSG00000032998
AA Change: N416S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133097
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsa2 |
T |
A |
11: 23,440,559 (GRCm39) |
T231S |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,243,067 (GRCm39) |
L1091P |
probably benign |
Het |
| Arhgap32 |
A |
T |
9: 32,166,944 (GRCm39) |
K527M |
probably damaging |
Het |
| Caap1 |
T |
C |
4: 94,438,742 (GRCm39) |
N149S |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,846,252 (GRCm39) |
|
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,902,763 (GRCm39) |
I929K |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,014,408 (GRCm39) |
Y608H |
probably damaging |
Het |
| Gm20547 |
T |
C |
17: 35,076,236 (GRCm39) |
S1151G |
possibly damaging |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,199 (GRCm39) |
I39N |
probably damaging |
Het |
| Igkv11-125 |
A |
C |
6: 67,890,991 (GRCm39) |
E102A |
probably damaging |
Het |
| Mdc1 |
C |
A |
17: 36,164,048 (GRCm39) |
P1199T |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,267,862 (GRCm39) |
S11P |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,071,801 (GRCm39) |
R477G |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,094,518 (GRCm39) |
F514L |
probably damaging |
Het |
| Pde6c |
G |
T |
19: 38,166,578 (GRCm39) |
D707Y |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,901,222 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,165,995 (GRCm39) |
I2079F |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,227,145 (GRCm39) |
D668G |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,498,416 (GRCm39) |
Y887C |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,701 (GRCm39) |
E62G |
possibly damaging |
Het |
| Rnf25 |
T |
C |
1: 74,633,260 (GRCm39) |
E364G |
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,087,490 (GRCm39) |
D578E |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,252,302 (GRCm39) |
D3A |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,721,284 (GRCm39) |
Y294H |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,615,687 (GRCm39) |
T811A |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,286 (GRCm39) |
T996A |
probably damaging |
Het |
| Tmem132b |
A |
C |
5: 125,699,558 (GRCm39) |
Q73P |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,786,553 (GRCm39) |
I1275N |
possibly damaging |
Het |
| Vasp |
A |
T |
7: 18,998,705 (GRCm39) |
D17E |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,388,414 (GRCm39) |
T700A |
probably benign |
Het |
| Ythdc2 |
T |
G |
18: 44,973,308 (GRCm39) |
L315W |
probably damaging |
Het |
| Zfp385c |
A |
G |
11: 100,520,742 (GRCm39) |
V306A |
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 |
|
|
IGL02625:Foxj3
|
APN |
4 |
119,482,114 (GRCm39) |
missense |
unknown |
|
|
IGL03216:Foxj3
|
APN |
4 |
119,467,180 (GRCm39) |
intron |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation