Incidental Mutation 'IGL02635:Stox1'
ID |
301483 |
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: 0.243)
|
Stock # |
IGL02635
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
62494822-62561907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62500685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 625
(D625G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126979]
[ENSMUST00000133371]
[ENSMUST00000148720]
|
AlphaFold |
B2RQL2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000126979
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133371
AA Change: D625G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000114652 Gene: ENSMUSG00000036923 AA Change: D625G
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 benign
Transcript: ENSMUST00000148720
|
SMART Domains |
Protein: ENSMUSP00000116180 Gene: ENSMUSG00000036923
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730018C14Rik |
A |
C |
12: 112,381,586 (GRCm39) |
|
noncoding transcript |
Het |
Abcc12 |
C |
T |
8: 87,236,311 (GRCm39) |
|
probably benign |
Het |
Akap9 |
T |
C |
5: 4,120,500 (GRCm39) |
S3639P |
possibly damaging |
Het |
Ankar |
C |
T |
1: 72,691,590 (GRCm39) |
V1124I |
possibly damaging |
Het |
AW209491 |
C |
T |
13: 14,811,852 (GRCm39) |
A235V |
possibly damaging |
Het |
Cask |
A |
T |
X: 13,581,009 (GRCm39) |
D58E |
probably damaging |
Het |
Cdhr4 |
T |
A |
9: 107,870,070 (GRCm39) |
M25K |
probably benign |
Het |
Clasp2 |
A |
G |
9: 113,737,910 (GRCm39) |
I1096V |
probably damaging |
Het |
Fam234a |
T |
A |
17: 26,433,427 (GRCm39) |
I410F |
possibly damaging |
Het |
Gbe1 |
T |
C |
16: 70,365,902 (GRCm39) |
L693P |
probably damaging |
Het |
Golgb1 |
G |
T |
16: 36,735,375 (GRCm39) |
V1541L |
probably benign |
Het |
Gpr143 |
G |
A |
X: 151,591,257 (GRCm39) |
E382K |
probably damaging |
Het |
Gpr171 |
C |
T |
3: 59,005,017 (GRCm39) |
V253I |
probably benign |
Het |
Gsap |
T |
A |
5: 21,494,814 (GRCm39) |
W10R |
probably damaging |
Het |
Hsd17b12 |
T |
A |
2: 93,913,556 (GRCm39) |
D116V |
possibly damaging |
Het |
Ifih1 |
A |
T |
2: 62,442,173 (GRCm39) |
L348Q |
probably damaging |
Het |
Ighv1-50 |
G |
A |
12: 115,083,615 (GRCm39) |
A35V |
probably benign |
Het |
Lrcol1 |
A |
C |
5: 110,502,459 (GRCm39) |
M112L |
probably benign |
Het |
Lrrc59 |
T |
A |
11: 94,534,282 (GRCm39) |
V280E |
probably damaging |
Het |
Med17 |
A |
T |
9: 15,185,845 (GRCm39) |
I223K |
probably damaging |
Het |
Oog3 |
T |
C |
4: 143,884,715 (GRCm39) |
N407S |
probably damaging |
Het |
Or4e1 |
T |
C |
14: 52,701,251 (GRCm39) |
I72V |
probably damaging |
Het |
Pear1 |
T |
C |
3: 87,657,453 (GRCm39) |
*1035W |
probably null |
Het |
Pkd1 |
T |
A |
17: 24,791,785 (GRCm39) |
F1157L |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,135,842 (GRCm39) |
|
probably benign |
Het |
Ppl |
T |
C |
16: 4,907,631 (GRCm39) |
E888G |
probably benign |
Het |
Prh1 |
G |
A |
6: 132,549,246 (GRCm39) |
G251E |
unknown |
Het |
Prkar2a |
A |
G |
9: 108,605,476 (GRCm39) |
E178G |
probably damaging |
Het |
Rfx6 |
A |
T |
10: 51,592,122 (GRCm39) |
T352S |
possibly damaging |
Het |
S1pr1 |
T |
C |
3: 115,505,739 (GRCm39) |
K285R |
probably benign |
Het |
Slc12a1 |
A |
G |
2: 125,067,898 (GRCm39) |
H995R |
probably benign |
Het |
Slc25a54 |
T |
A |
3: 109,020,133 (GRCm39) |
N382K |
possibly damaging |
Het |
Snrnp48 |
T |
G |
13: 38,393,845 (GRCm39) |
|
probably benign |
Het |
Spg11 |
T |
C |
2: 121,943,549 (GRCm39) |
D201G |
possibly damaging |
Het |
Supt6 |
T |
C |
11: 78,103,565 (GRCm39) |
H1380R |
probably damaging |
Het |
Tcp1 |
T |
A |
17: 13,142,296 (GRCm39) |
M430K |
probably benign |
Het |
Tlr12 |
A |
T |
4: 128,510,609 (GRCm39) |
V547E |
probably damaging |
Het |
Tmem255b |
G |
T |
8: 13,505,195 (GRCm39) |
D167Y |
probably damaging |
Het |
Trpc7 |
T |
C |
13: 56,923,981 (GRCm39) |
R735G |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,848,972 (GRCm39) |
T73A |
probably benign |
Het |
Ubr3 |
A |
T |
2: 69,850,827 (GRCm39) |
L1748F |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
Ybx1 |
T |
C |
4: 119,136,286 (GRCm39) |
N282S |
possibly damaging |
Het |
Zdhhc12 |
T |
A |
2: 29,983,531 (GRCm39) |
I24F |
probably damaging |
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 |
|
IGL02454:Stox1
|
APN |
10 |
62,503,605 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02510:Stox1
|
APN |
10 |
62,499,826 (GRCm39) |
missense |
probably benign |
0.14 |
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 |