Incidental Mutation 'R6352:Foxj3'
| ID |
513273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxj3
|
| Ensembl Gene |
ENSMUSG00000032998 |
| Gene Name |
forkhead box J3 |
| Synonyms |
C330039G02Rik, Fhd6 |
| MMRRC Submission |
044504-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.410)
|
| Stock # |
R6352 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
119396858-119486316 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119442975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 133
(N133S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044564]
[ENSMUST00000106310]
[ENSMUST00000138845]
[ENSMUST00000162267]
|
| AlphaFold |
Q8BUR3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044564
AA Change: N133S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035746
Gene: ENSMUSG00000032998
AA Change: N133S
| 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 damaging
Transcript: ENSMUST00000106310
AA Change: N133S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101917
Gene: ENSMUSG00000032998
AA Change: N133S
| 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 |
probably damaging
Transcript: ENSMUST00000138845
AA Change: N133S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124806
Gene: ENSMUSG00000032998
AA Change: N133S
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
76 |
154 |
4.14e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161196
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162267
AA Change: N133S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123815
Gene: ENSMUSG00000032998
AA Change: N133S
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
76 |
154 |
4.14e-39 |
SMART |
|
| Meta Mutation Damage Score |
0.8717 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
96% (48/50) |
| 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 |
|---|
| 1700122O11Rik |
T |
C |
17: 48,347,945 (GRCm39) |
S120G |
probably benign |
Het |
| Abca13 |
G |
A |
11: 9,259,139 (GRCm39) |
|
probably null |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Adgra3 |
T |
A |
5: 50,136,478 (GRCm39) |
D669V |
probably benign |
Het |
| Adgra3 |
T |
A |
5: 50,147,592 (GRCm39) |
M483L |
probably benign |
Het |
| Ccdc42 |
T |
C |
11: 68,485,191 (GRCm39) |
V88A |
probably damaging |
Het |
| Cdh16 |
G |
C |
8: 105,343,624 (GRCm39) |
S624C |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,616,219 (GRCm39) |
|
probably null |
Het |
| Cul9 |
T |
C |
17: 46,822,241 (GRCm39) |
T1795A |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,339,053 (GRCm39) |
V3098I |
probably damaging |
Het |
| Fbxl16 |
T |
C |
17: 26,037,919 (GRCm39) |
L426P |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,552,991 (GRCm39) |
V313A |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,162,926 (GRCm39) |
I489M |
possibly damaging |
Het |
| Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hdgfl1 |
T |
G |
13: 26,953,733 (GRCm39) |
E113D |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,997,949 (GRCm39) |
S317T |
possibly damaging |
Het |
| Hycc2 |
A |
G |
1: 58,596,471 (GRCm39) |
V38A |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,223,479 (GRCm39) |
|
probably null |
Het |
| Iqcf5 |
A |
G |
9: 106,392,929 (GRCm39) |
E62G |
possibly damaging |
Het |
| Kcnj3 |
G |
A |
2: 55,327,561 (GRCm39) |
V117I |
probably benign |
Het |
| Klf9 |
T |
A |
19: 23,119,138 (GRCm39) |
M7K |
probably benign |
Het |
| Mboat1 |
G |
A |
13: 30,386,403 (GRCm39) |
G139E |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,929,434 (GRCm39) |
T1811A |
probably damaging |
Het |
| Mllt10 |
A |
C |
2: 18,128,604 (GRCm39) |
K117T |
probably damaging |
Het |
| Mpped1 |
A |
G |
15: 83,720,564 (GRCm39) |
D8G |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,143,108 (GRCm39) |
D1012V |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,801,054 (GRCm39) |
P1070T |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,801,055 (GRCm39) |
P1071L |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,072,527 (GRCm39) |
I439F |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,257,051 (GRCm39) |
I134N |
probably damaging |
Het |
| Nop2 |
C |
T |
6: 125,114,170 (GRCm39) |
T212M |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,786,435 (GRCm39) |
C188R |
probably damaging |
Het |
| Or10q12 |
A |
T |
19: 13,745,828 (GRCm39) |
M41L |
probably benign |
Het |
| Or2ag19 |
G |
T |
7: 106,444,429 (GRCm39) |
V204F |
probably damaging |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Plet1 |
T |
C |
9: 50,412,407 (GRCm39) |
S142P |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,887,816 (GRCm39) |
W539R |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,009,789 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
T |
G |
15: 36,093,067 (GRCm39) |
Q402P |
probably damaging |
Het |
| Rpl10a |
T |
C |
17: 28,549,820 (GRCm39) |
V167A |
possibly damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,016,421 (GRCm39) |
S2P |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,252,309 (GRCm39) |
M1V |
probably null |
Het |
| Spta1 |
T |
A |
1: 174,039,212 (GRCm39) |
M1185K |
possibly damaging |
Het |
| Syde2 |
G |
T |
3: 145,704,229 (GRCm39) |
E127* |
probably null |
Het |
| Thoc2l |
A |
G |
5: 104,668,064 (GRCm39) |
E862G |
probably benign |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,860 (GRCm39) |
R57S |
possibly damaging |
Het |
| Wdr11 |
C |
T |
7: 129,208,399 (GRCm39) |
L385F |
possibly damaging |
Het |
| Wdr74 |
T |
C |
19: 8,716,822 (GRCm39) |
V200A |
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 |
|
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 |
|
|
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'- AGCTTATTTTGCAAGTTGGCTC -3'
(R):5'- GCTAACAATGACAAGCTCTAGC -3'
Sequencing Primer
(F):5'- TGCAAGTTGGCTCTATTTGTAAC -3'
(R):5'- GGCAGGTAGATCTCTATGAATTCCAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation