Incidental Mutation 'R6540:Foxj2'
| ID |
520686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxj2
|
| Ensembl Gene |
ENSMUSG00000003154 |
| Gene Name |
forkhead box J2 |
| Synonyms |
Fhx |
| MMRRC Submission |
044666-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.470)
|
| Stock # |
R6540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
122797143-122822325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122810202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 187
(H187R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003238]
[ENSMUST00000177927]
[ENSMUST00000203075]
|
| AlphaFold |
Q9ES18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003238
AA Change: H187R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003238
Gene: ENSMUSG00000003154
AA Change: H187R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
FH
|
64 |
153 |
1.77e-47 |
SMART |
|
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177927
AA Change: H187R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137645
Gene: ENSMUSG00000003154
AA Change: H187R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
FH
|
64 |
153 |
1.77e-47 |
SMART |
|
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196252
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203075
AA Change: H187R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145438
Gene: ENSMUSG00000003154
AA Change: H187R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
FH
|
64 |
153 |
7.8e-50 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,660,779 (GRCm39) |
Y143H |
possibly damaging |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,679,567 (GRCm39) |
V849A |
possibly damaging |
Het |
| Ash1l |
A |
T |
3: 88,892,368 (GRCm39) |
T1416S |
probably damaging |
Het |
| Cdc5l |
A |
G |
17: 45,737,570 (GRCm39) |
W63R |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,692,328 (GRCm39) |
D169E |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,235,977 (GRCm39) |
N297T |
unknown |
Het |
| Cp |
T |
C |
3: 20,018,693 (GRCm39) |
|
probably null |
Het |
| Fbxl19 |
G |
T |
7: 127,347,525 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
C |
6: 29,446,376 (GRCm39) |
V931A |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,441,634 (GRCm39) |
V1199I |
probably benign |
Het |
| Ighv7-4 |
A |
G |
12: 114,186,470 (GRCm39) |
Y101H |
possibly damaging |
Het |
| Igkv10-94 |
T |
A |
6: 68,681,507 (GRCm39) |
Y111F |
probably benign |
Het |
| Lin28a |
C |
T |
4: 133,745,372 (GRCm39) |
V74M |
possibly damaging |
Het |
| Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,866,541 (GRCm39) |
T701P |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,515,801 (GRCm39) |
K309* |
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,256,817 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,571 (GRCm39) |
I272V |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,893,897 (GRCm39) |
K557* |
probably null |
Het |
| Pde4b |
T |
C |
4: 102,459,073 (GRCm39) |
L546P |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,951 (GRCm39) |
V2213M |
probably damaging |
Het |
| Plekhh1 |
A |
G |
12: 79,111,263 (GRCm39) |
I542V |
probably benign |
Het |
| Ppan |
A |
G |
9: 20,802,506 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
A |
T |
16: 97,637,005 (GRCm39) |
V104E |
probably benign |
Het |
| Semp2l2a |
A |
C |
8: 13,887,573 (GRCm39) |
S173A |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,123,351 (GRCm39) |
H1050R |
probably benign |
Het |
| Slc35d3 |
A |
G |
10: 19,725,086 (GRCm39) |
F257L |
possibly damaging |
Het |
| Tfip11 |
A |
G |
5: 112,482,263 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
A |
G |
5: 128,345,596 (GRCm39) |
S309P |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,234,400 (GRCm39) |
I48V |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,056 (GRCm39) |
L174* |
probably null |
Het |
| Zfp729a |
A |
G |
13: 67,767,767 (GRCm39) |
C821R |
possibly damaging |
Het |
| Zfp970 |
C |
A |
2: 177,167,388 (GRCm39) |
H321N |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,804,055 (GRCm39) |
L2599P |
probably damaging |
Het |
|
| Other mutations in Foxj2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Foxj2
|
APN |
6 |
122,816,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01100:Foxj2
|
APN |
6 |
122,805,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02169:Foxj2
|
APN |
6 |
122,805,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02220:Foxj2
|
APN |
6 |
122,815,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL02423:Foxj2
|
APN |
6 |
122,819,732 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03026:Foxj2
|
APN |
6 |
122,815,139 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03198:Foxj2
|
APN |
6 |
122,809,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0400:Foxj2
|
UTSW |
6 |
122,810,767 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1572:Foxj2
|
UTSW |
6 |
122,810,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2063:Foxj2
|
UTSW |
6 |
122,817,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2568:Foxj2
|
UTSW |
6 |
122,805,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Foxj2
|
UTSW |
6 |
122,819,791 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4745:Foxj2
|
UTSW |
6 |
122,814,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4764:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4765:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4775:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5056:Foxj2
|
UTSW |
6 |
122,810,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5816:Foxj2
|
UTSW |
6 |
122,810,695 (GRCm39) |
missense |
probably benign |
|
|
R6254:Foxj2
|
UTSW |
6 |
122,815,098 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6265:Foxj2
|
UTSW |
6 |
122,805,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6882:Foxj2
|
UTSW |
6 |
122,805,464 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6981:Foxj2
|
UTSW |
6 |
122,819,798 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6981:Foxj2
|
UTSW |
6 |
122,805,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Foxj2
|
UTSW |
6 |
122,817,190 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7475:Foxj2
|
UTSW |
6 |
122,814,801 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8075:Foxj2
|
UTSW |
6 |
122,815,055 (GRCm39) |
nonsense |
probably null |
|
|
R8287:Foxj2
|
UTSW |
6 |
122,805,226 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8320:Foxj2
|
UTSW |
6 |
122,810,649 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8511:Foxj2
|
UTSW |
6 |
122,808,404 (GRCm39) |
nonsense |
probably null |
|
|
R9498:Foxj2
|
UTSW |
6 |
122,819,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Foxj2
|
UTSW |
6 |
122,810,670 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Foxj2
|
UTSW |
6 |
122,809,895 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTCTTCTTTGGGAGAGCTC -3'
(R):5'- CCAATCTATCTGCCTAGCACATG -3'
Sequencing Primer
(F):5'- CTGTGACTAAATGCGGGTTAGC -3'
(R):5'- TCTATCTGCCTAGCACATGACAAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation