Incidental Mutation 'IGL02454:Stox1'
| ID |
293767 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stox1
|
| Ensembl Gene |
ENSMUSG00000036923 |
| Gene Name |
storkhead box 1 |
| Synonyms |
4732470K04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
IGL02454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62494822-62561907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62503605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 61
(Y61C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126979]
[ENSMUST00000133371]
[ENSMUST00000148720]
|
| AlphaFold |
B2RQL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126979
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133371
AA Change: Y150C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923
AA Change: Y150C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
Pfam:Stork_head
|
108 |
186 |
4.4e-37 |
PFAM |
|
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148720
AA Change: Y61C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116180
Gene: ENSMUSG00000036923
AA Change: Y61C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Stork_head
|
19 |
98 |
9e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218980
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amz2 |
T |
G |
11: 109,324,887 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,051,560 (GRCm39) |
F1104S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,579,141 (GRCm39) |
N1610S |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,864,318 (GRCm39) |
D122E |
probably damaging |
Het |
| Crtc2 |
G |
A |
3: 90,166,474 (GRCm39) |
G65S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,971,593 (GRCm39) |
T2160A |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,032,483 (GRCm39) |
L278R |
probably damaging |
Het |
| Foxp4 |
A |
T |
17: 48,186,507 (GRCm39) |
L424* |
probably null |
Het |
| Gm10392 |
A |
T |
11: 77,409,216 (GRCm39) |
E310V |
probably damaging |
Het |
| Gm11554 |
T |
A |
11: 99,694,815 (GRCm39) |
S133C |
unknown |
Het |
| Hacd2 |
T |
A |
16: 34,926,761 (GRCm39) |
F253L |
probably benign |
Het |
| Il3ra |
T |
C |
14: 14,351,113 (GRCm38) |
S212P |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,694,674 (GRCm39) |
|
probably null |
Het |
| Mtfr1l |
A |
T |
4: 134,257,696 (GRCm39) |
L111H |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,858,741 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
C |
A |
1: 173,098,507 (GRCm39) |
S255Y |
probably damaging |
Het |
| Or52d1 |
T |
C |
7: 103,755,819 (GRCm39) |
V111A |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,075,231 (GRCm39) |
F357I |
probably damaging |
Het |
| Polr3a |
C |
A |
14: 24,525,891 (GRCm39) |
V450L |
possibly damaging |
Het |
| Prkd1 |
T |
C |
12: 50,411,456 (GRCm39) |
K764R |
probably benign |
Het |
| Pxn |
C |
T |
5: 115,690,325 (GRCm39) |
P256S |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,707,096 (GRCm39) |
F247L |
probably benign |
Het |
| Rfx4 |
C |
T |
10: 84,675,970 (GRCm39) |
T62M |
possibly damaging |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,499 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
A |
G |
9: 119,587,610 (GRCm39) |
I1378T |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,058,319 (GRCm39) |
S69P |
probably benign |
Het |
| Tex55 |
T |
A |
16: 38,648,309 (GRCm39) |
T267S |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,298,882 (GRCm39) |
|
probably benign |
Het |
| Tpr |
A |
G |
1: 150,306,943 (GRCm39) |
S1587G |
probably benign |
Het |
| Trappc6b |
A |
G |
12: 59,090,433 (GRCm39) |
*97Q |
probably null |
Het |
| Usf3 |
T |
C |
16: 44,037,545 (GRCm39) |
V675A |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,929,299 (GRCm39) |
T1045M |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,552,254 (GRCm39) |
C618S |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,817,301 (GRCm39) |
V47A |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,211 (GRCm39) |
N423S |
probably benign |
Het |
|
| Other mutations in Stox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Stox1
|
APN |
10 |
62,503,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01462:Stox1
|
APN |
10 |
62,500,461 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01558:Stox1
|
APN |
10 |
62,503,651 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02391:Stox1
|
APN |
10 |
62,495,455 (GRCm39) |
splice site |
probably benign |
|
|
IGL02510:Stox1
|
APN |
10 |
62,499,826 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02635:Stox1
|
APN |
10 |
62,500,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1036:Stox1
|
UTSW |
10 |
62,503,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Stox1
|
UTSW |
10 |
62,500,415 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1751:Stox1
|
UTSW |
10 |
62,495,445 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1763:Stox1
|
UTSW |
10 |
62,503,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Stox1
|
UTSW |
10 |
62,501,178 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2128:Stox1
|
UTSW |
10 |
62,500,314 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2406:Stox1
|
UTSW |
10 |
62,499,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4078:Stox1
|
UTSW |
10 |
62,501,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4414:Stox1
|
UTSW |
10 |
62,495,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4415:Stox1
|
UTSW |
10 |
62,495,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4416:Stox1
|
UTSW |
10 |
62,495,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4417:Stox1
|
UTSW |
10 |
62,495,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4799:Stox1
|
UTSW |
10 |
62,501,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Stox1
|
UTSW |
10 |
62,503,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5323:Stox1
|
UTSW |
10 |
62,499,812 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5885:Stox1
|
UTSW |
10 |
62,500,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6182:Stox1
|
UTSW |
10 |
62,500,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7548:Stox1
|
UTSW |
10 |
62,501,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7757:Stox1
|
UTSW |
10 |
62,499,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7765:Stox1
|
UTSW |
10 |
62,501,778 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7846:Stox1
|
UTSW |
10 |
62,495,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Stox1
|
UTSW |
10 |
62,500,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8077:Stox1
|
UTSW |
10 |
62,501,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8409:Stox1
|
UTSW |
10 |
62,501,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8413:Stox1
|
UTSW |
10 |
62,500,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Stox1
|
UTSW |
10 |
62,501,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Stox1
|
UTSW |
10 |
62,499,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Stox1
|
UTSW |
10 |
62,495,386 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8895:Stox1
|
UTSW |
10 |
62,495,386 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8937:Stox1
|
UTSW |
10 |
62,500,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9012:Stox1
|
UTSW |
10 |
62,500,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9201:Stox1
|
UTSW |
10 |
62,501,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Stox1
|
UTSW |
10 |
62,500,025 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1176:Stox1
|
UTSW |
10 |
62,499,797 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation