Incidental Mutation 'IGL02169:Foxj2'
| ID |
282813 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxj2
|
| Ensembl Gene |
ENSMUSG00000003154 |
| Gene Name |
forkhead box J2 |
| Synonyms |
Fhx |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.510)
|
| Stock # |
IGL02169
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
122797143-122822325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122805425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 99
(N99S)
|
| 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: N99S
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000003238
Gene: ENSMUSG00000003154
AA Change: N99S
| 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: N99S
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137645
Gene: ENSMUSG00000003154
AA Change: N99S
| 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 damaging
Transcript: ENSMUST00000203075
AA Change: N99S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145438
Gene: ENSMUSG00000003154
AA Change: N99S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
FH
|
64 |
153 |
7.8e-50 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,843,408 (GRCm39) |
I1001F |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,731,858 (GRCm39) |
|
probably null |
Het |
| Apol7c |
T |
G |
15: 77,410,616 (GRCm39) |
D110A |
possibly damaging |
Het |
| Bcr |
A |
G |
10: 74,995,714 (GRCm39) |
N899S |
probably benign |
Het |
| Ccnt2 |
T |
A |
1: 127,702,126 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
G |
A |
13: 73,759,782 (GRCm39) |
V281I |
probably damaging |
Het |
| Ctsr |
A |
G |
13: 61,311,054 (GRCm39) |
|
probably benign |
Het |
| Dbh |
G |
A |
2: 27,064,910 (GRCm39) |
V374M |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,415,836 (GRCm39) |
D385G |
possibly damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,492 (GRCm39) |
V294A |
probably damaging |
Het |
| Gabrr1 |
T |
G |
4: 33,160,261 (GRCm39) |
V315G |
probably damaging |
Het |
| Gm21988 |
T |
C |
11: 70,129,764 (GRCm39) |
E25G |
probably benign |
Het |
| Islr |
A |
T |
9: 58,065,415 (GRCm39) |
F31I |
possibly damaging |
Het |
| L2hgdh |
A |
T |
12: 69,768,171 (GRCm39) |
L109Q |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,490,290 (GRCm39) |
I96T |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,028,757 (GRCm39) |
D330G |
probably damaging |
Het |
| Or2ag19 |
T |
A |
7: 106,444,473 (GRCm39) |
Y218* |
probably null |
Het |
| Or8k33 |
T |
C |
2: 86,384,226 (GRCm39) |
M81V |
probably benign |
Het |
| Phtf1 |
C |
A |
3: 103,904,815 (GRCm39) |
L488I |
probably benign |
Het |
| Plac8l1 |
T |
C |
18: 42,312,008 (GRCm39) |
D137G |
probably damaging |
Het |
| Pth1r |
G |
A |
9: 110,553,503 (GRCm39) |
T392I |
probably damaging |
Het |
| Rab43 |
A |
G |
6: 87,788,406 (GRCm39) |
F41L |
probably damaging |
Het |
| Ralgapb |
C |
T |
2: 158,268,124 (GRCm39) |
L76F |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,958,053 (GRCm39) |
|
probably null |
Het |
| Rpl27a |
T |
C |
7: 109,119,185 (GRCm39) |
I43T |
probably benign |
Het |
| Set |
G |
A |
2: 29,959,536 (GRCm39) |
D129N |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,276,786 (GRCm39) |
Y604F |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,629,792 (GRCm39) |
V491A |
probably benign |
Het |
| Txlna |
T |
C |
4: 129,523,406 (GRCm39) |
T429A |
probably damaging |
Het |
| Vmn1r128 |
C |
T |
7: 21,084,163 (GRCm39) |
P289L |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,125,823 (GRCm39) |
F356S |
probably damaging |
Het |
| Zfp687 |
G |
A |
3: 94,918,743 (GRCm39) |
T343I |
probably damaging |
Het |
| Zfp935 |
A |
G |
13: 62,604,745 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6540:Foxj2
|
UTSW |
6 |
122,810,202 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation