Incidental Mutation 'R4065:Foxj3'
| ID |
316049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxj3
|
| Ensembl Gene |
ENSMUSG00000032998 |
| Gene Name |
forkhead box J3 |
| Synonyms |
C330039G02Rik, Fhd6 |
| MMRRC Submission |
040972-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.410)
|
| Stock # |
R4065 (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 C
at 119467206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 183
(I183T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044564]
[ENSMUST00000106310]
|
| AlphaFold |
Q8BUR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044564
AA Change: I183T
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000035746
Gene: ENSMUSG00000032998
AA Change: I183T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
C |
T |
3: 89,966,073 (GRCm39) |
R178* |
probably null |
Het |
| Abcc9 |
T |
C |
6: 142,591,616 (GRCm39) |
E769G |
probably damaging |
Het |
| Adcy9 |
C |
A |
16: 4,106,298 (GRCm39) |
V939F |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,308,396 (GRCm39) |
F1643S |
probably damaging |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,646 (GRCm39) |
|
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,019,397 (GRCm39) |
I306T |
probably benign |
Het |
| Camk1d |
A |
T |
2: 5,570,584 (GRCm39) |
F26I |
probably damaging |
Het |
| Cant1 |
G |
T |
11: 118,298,823 (GRCm39) |
D313E |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,101,276 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,492,405 (GRCm39) |
I1182V |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,451,639 (GRCm39) |
|
probably null |
Het |
| Dnajc7 |
T |
C |
11: 100,492,607 (GRCm39) |
Y38C |
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,820 (GRCm39) |
L309P |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,063,346 (GRCm39) |
H4434L |
probably benign |
Het |
| Fbxo16 |
T |
A |
14: 65,508,278 (GRCm39) |
N31K |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
| Fshr |
T |
C |
17: 89,293,394 (GRCm39) |
Y428C |
probably damaging |
Het |
| Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
| Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
| Grem1 |
A |
G |
2: 113,580,033 (GRCm39) |
L156P |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
| Lamc3 |
C |
A |
2: 31,835,270 (GRCm39) |
H1530Q |
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,777,483 (GRCm39) |
V1846A |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,982,242 (GRCm39) |
H483R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Mvp |
A |
G |
7: 126,595,489 (GRCm39) |
V207A |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,760,579 (GRCm39) |
|
probably null |
Het |
| Or13a26 |
T |
C |
7: 140,284,182 (GRCm39) |
L6P |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,784,718 (GRCm39) |
I49T |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,603,134 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
A |
6: 32,213,300 (GRCm39) |
K637* |
probably null |
Het |
| Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
| Prb1a |
T |
A |
6: 132,184,658 (GRCm39) |
Q325L |
unknown |
Het |
| Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
| Spcs2 |
A |
G |
7: 99,494,012 (GRCm39) |
I164T |
possibly damaging |
Het |
| Ssbp4 |
T |
C |
8: 71,052,210 (GRCm39) |
T77A |
possibly damaging |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uhrf1 |
T |
A |
17: 56,625,020 (GRCm39) |
I521N |
probably damaging |
Het |
| Uros |
A |
G |
7: 133,304,057 (GRCm39) |
|
probably null |
Het |
| Usp47 |
A |
G |
7: 111,652,623 (GRCm39) |
D100G |
probably benign |
Het |
| Utp6 |
T |
C |
11: 79,837,073 (GRCm39) |
R337G |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,006 (GRCm39) |
T3147A |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
| Zfp654 |
G |
A |
16: 64,606,288 (GRCm39) |
T638M |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCAGTAGCATGCCAGAACATAG -3'
(R):5'- AGATTCAAGTCTCAAGCTGTCAC -3'
Sequencing Primer
(F):5'- TGCCAGAACATAGTCAGAATGC -3'
(R):5'- CAAGCTGTCACATATAGATTGAGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation