Incidental Mutation 'R5362:Foxj3'
| ID |
422862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxj3
|
| Ensembl Gene |
ENSMUSG00000032998 |
| Gene Name |
forkhead box J3 |
| Synonyms |
C330039G02Rik, Fhd6 |
| MMRRC Submission |
043264-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.482)
|
| Stock # |
R5362 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
119396858-119486316 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119477340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 349
(H349Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044564]
[ENSMUST00000106310]
|
| AlphaFold |
Q8BUR3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000044564
AA Change: H383Q
|
| SMART Domains |
Protein: ENSMUSP00000035746
Gene: ENSMUSG00000032998
AA Change: H383Q
| 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: H349Q
|
| SMART Domains |
Protein: ENSMUSP00000101917
Gene: ENSMUSG00000032998
AA Change: H349Q
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
T |
6: 133,271,445 (GRCm39) |
D163V |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,413,404 (GRCm39) |
A1170V |
probably damaging |
Het |
| Ano1 |
A |
C |
7: 144,202,337 (GRCm39) |
|
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,168,890 (GRCm39) |
N37D |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 143,028,969 (GRCm39) |
Y90C |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,498,655 (GRCm39) |
N499S |
probably benign |
Het |
| Ccdc47 |
G |
A |
11: 106,099,039 (GRCm39) |
|
probably null |
Het |
| Cd300lf |
G |
T |
11: 115,007,940 (GRCm39) |
L251M |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,522,623 (GRCm39) |
S670G |
probably damaging |
Het |
| Clec4a1 |
A |
G |
6: 122,909,196 (GRCm39) |
D188G |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,295,760 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
T |
A |
5: 87,842,508 (GRCm39) |
H165L |
probably benign |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Dlx3 |
T |
C |
11: 95,011,326 (GRCm39) |
V60A |
possibly damaging |
Het |
| Elp1 |
A |
C |
4: 56,778,969 (GRCm39) |
I616S |
probably damaging |
Het |
| Fam221a |
A |
G |
6: 49,353,049 (GRCm39) |
H21R |
probably damaging |
Het |
| Gm37240 |
G |
A |
3: 84,423,000 (GRCm39) |
T123I |
probably damaging |
Het |
| Gpc1 |
A |
T |
1: 92,782,615 (GRCm39) |
T121S |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Itga2b |
A |
G |
11: 102,351,961 (GRCm39) |
V512A |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,002,675 (GRCm39) |
Y144C |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,037 (GRCm39) |
I60K |
possibly damaging |
Het |
| Kif9 |
G |
A |
9: 110,319,012 (GRCm39) |
V159M |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,265,914 (GRCm39) |
D229G |
probably damaging |
Het |
| Nkpd1 |
G |
A |
7: 19,257,193 (GRCm39) |
G324D |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,808,221 (GRCm39) |
Y617N |
probably benign |
Het |
| Ocm |
T |
C |
5: 143,960,674 (GRCm39) |
D91G |
probably damaging |
Het |
| Or4l15 |
A |
G |
14: 50,197,986 (GRCm39) |
L181P |
possibly damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,995,454 (GRCm39) |
V227A |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,710,422 (GRCm39) |
E68G |
probably damaging |
Het |
| Pex5l |
G |
A |
3: 33,047,065 (GRCm39) |
A295V |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
| Pou2f2 |
G |
A |
7: 24,792,320 (GRCm39) |
P512S |
probably benign |
Het |
| Prpf8 |
G |
A |
11: 75,397,236 (GRCm39) |
R2023Q |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 76,047,050 (GRCm39) |
S399R |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,976 (GRCm39) |
Y1889C |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Ranbp6 |
G |
T |
19: 29,789,128 (GRCm39) |
T408K |
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,530,342 (GRCm39) |
R668C |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,529,414 (GRCm39) |
N134S |
probably damaging |
Het |
| Spg11 |
G |
T |
2: 121,891,481 (GRCm39) |
N1963K |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
| Top2a |
T |
C |
11: 98,909,738 (GRCm39) |
N120S |
probably damaging |
Het |
| Trappc9 |
C |
T |
15: 72,930,066 (GRCm39) |
E97K |
possibly damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,386 (GRCm39) |
T102S |
probably benign |
Het |
| Vmn2r99 |
G |
T |
17: 19,599,601 (GRCm39) |
M428I |
probably benign |
Het |
| Zfp62 |
A |
T |
11: 49,107,439 (GRCm39) |
H510L |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATCTTCCCAACAGTCCC -3'
(R):5'- GGGCAGACCTAATTCACAGC -3'
Sequencing Primer
(F):5'- AACAGTCCCACACTTCATGTTC -3'
(R):5'- GGGCAGACCTAATTCACAGCTATTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation