Incidental Mutation 'R4295:Foxj3'
ID |
323250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Foxj3
|
Ensembl Gene |
ENSMUSG00000032998 |
Gene Name |
forkhead box J3 |
Synonyms |
C330039G02Rik, Fhd6 |
MMRRC Submission |
041084-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.482)
|
Stock # |
R4295 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
119396858-119486316 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 119483494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 555
(G555*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044564]
[ENSMUST00000106310]
|
AlphaFold |
Q8BUR3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044564
AA Change: G589*
|
SMART Domains |
Protein: ENSMUSP00000035746 Gene: ENSMUSG00000032998 AA Change: G589*
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 null
Transcript: ENSMUST00000106310
AA Change: G555*
|
SMART Domains |
Protein: ENSMUSP00000101917 Gene: ENSMUSG00000032998 AA Change: G555*
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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
C |
13: 119,606,249 (GRCm39) |
S164P |
probably benign |
Het |
4933427D06Rik |
A |
G |
6: 89,084,883 (GRCm39) |
|
noncoding transcript |
Het |
Aldh1l2 |
C |
T |
10: 83,331,784 (GRCm39) |
V674M |
possibly damaging |
Het |
Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
Atr |
A |
G |
9: 95,756,479 (GRCm39) |
I870V |
probably benign |
Het |
Cd200r4 |
T |
C |
16: 44,653,239 (GRCm39) |
V3A |
probably damaging |
Het |
Celf2 |
T |
C |
2: 6,608,875 (GRCm39) |
N302S |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
Dnah17 |
A |
T |
11: 118,009,598 (GRCm39) |
I363N |
probably damaging |
Het |
Fam98a |
A |
T |
17: 75,848,342 (GRCm39) |
M124K |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm4841 |
T |
C |
18: 60,403,262 (GRCm39) |
N277S |
probably benign |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,363,410 (GRCm39) |
D863G |
probably benign |
Het |
Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
Lcn11 |
G |
A |
2: 25,668,111 (GRCm39) |
A90T |
possibly damaging |
Het |
Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
Or5m3 |
T |
C |
2: 85,838,614 (GRCm39) |
Y165H |
probably benign |
Het |
Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
Or9a4 |
T |
A |
6: 40,549,090 (GRCm39) |
F257I |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
Pcgf2 |
A |
T |
11: 97,584,282 (GRCm39) |
Y24* |
probably null |
Het |
Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
Pigf |
A |
G |
17: 87,331,184 (GRCm39) |
I46T |
probably benign |
Het |
Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
Prdm10 |
A |
G |
9: 31,227,590 (GRCm39) |
E65G |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
Tjp1 |
T |
C |
7: 64,972,898 (GRCm39) |
D514G |
probably damaging |
Het |
Ttll11 |
TCGCCGCCGCCGCCGCCGCCGC |
TCGCCGCCGCCGCCGCCGC |
2: 35,869,564 (GRCm39) |
|
probably benign |
Het |
Unc13c |
A |
G |
9: 73,641,786 (GRCm39) |
S1236P |
probably damaging |
Het |
Utp20 |
G |
T |
10: 88,590,381 (GRCm39) |
D2364E |
possibly damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
Vmn1r76 |
T |
C |
7: 11,665,057 (GRCm39) |
I52M |
probably benign |
Het |
Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly damaging |
Het |
Zfp451 |
A |
T |
1: 33,816,836 (GRCm39) |
F154L |
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 |
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'- TCCCTACTATAAAATAAGGACCAGAGG -3'
(R):5'- ACCCAGCTAGAATCTCTGATTGTC -3'
Sequencing Primer
(F):5'- TATAAAATAAGGACCAGAGGAACCAC -3'
(R):5'- GAATCTCTGATTGTCTTCGAAAGG -3'
|
Posted On |
2015-06-20 |