Incidental Mutation 'IGL03143:Stox2'
| ID |
410763 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stox2
|
| Ensembl Gene |
ENSMUSG00000038143 |
| Gene Name |
storkhead box 2 |
| Synonyms |
4933409N07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
IGL03143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47646839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 207
(H207L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079195]
[ENSMUST00000110367]
[ENSMUST00000209337]
[ENSMUST00000210030]
[ENSMUST00000210153]
[ENSMUST00000211737]
[ENSMUST00000211882]
|
| AlphaFold |
Q499E5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079195
AA Change: H207L
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: H207L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
Pfam:Stork_head
|
63 |
141 |
4.5e-35 |
PFAM |
|
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
795 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110367
AA Change: H145L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: H145L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Stork_head
|
1 |
79 |
5.6e-35 |
PFAM |
|
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
733 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209337
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210030
AA Change: H145L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210153
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211737
AA Change: H207L
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211882
AA Change: H271L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
T |
G |
9: 121,738,333 (GRCm39) |
L236R |
probably damaging |
Het |
| Agbl1 |
C |
T |
7: 76,069,793 (GRCm39) |
Q442* |
probably null |
Het |
| Ahrr |
G |
A |
13: 74,405,614 (GRCm39) |
Q108* |
probably null |
Het |
| Ankrd23 |
T |
C |
1: 36,570,726 (GRCm39) |
|
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,104 (GRCm39) |
I225T |
probably damaging |
Het |
| Asxl3 |
T |
C |
18: 22,656,031 (GRCm39) |
V1347A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,905,994 (GRCm39) |
M1326V |
possibly damaging |
Het |
| Bpifb6 |
A |
C |
2: 153,744,655 (GRCm39) |
N32T |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,952,653 (GRCm39) |
T1043S |
possibly damaging |
Het |
| Cbx5 |
A |
T |
15: 103,121,532 (GRCm39) |
V35E |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,182,832 (GRCm39) |
M396L |
probably benign |
Het |
| Ceacam3 |
G |
T |
7: 16,892,045 (GRCm39) |
E263* |
probably null |
Het |
| Cyp4a12a |
A |
G |
4: 115,159,200 (GRCm39) |
T157A |
probably benign |
Het |
| Dennd11 |
A |
T |
6: 40,399,828 (GRCm39) |
|
probably benign |
Het |
| Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
| Dnajb1 |
T |
C |
8: 84,335,103 (GRCm39) |
I48T |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,556,543 (GRCm39) |
E349K |
probably benign |
Het |
| Fkbp10 |
A |
T |
11: 100,313,580 (GRCm39) |
I285F |
probably benign |
Het |
| Frrs1 |
A |
T |
3: 116,692,836 (GRCm39) |
T37S |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,181,677 (GRCm39) |
Y377C |
probably damaging |
Het |
| Gm9789 |
T |
A |
16: 88,954,883 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
T |
A |
1: 180,160,933 (GRCm39) |
V353D |
probably benign |
Het |
| Kcng4 |
T |
C |
8: 120,352,509 (GRCm39) |
E467G |
probably damaging |
Het |
| Kdm3a |
A |
T |
6: 71,573,845 (GRCm39) |
I906N |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,208,020 (GRCm39) |
L89Q |
probably benign |
Het |
| Lef1 |
G |
T |
3: 130,993,965 (GRCm39) |
E314* |
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,745,518 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
A |
G |
16: 13,218,676 (GRCm39) |
N452D |
possibly damaging |
Het |
| Naaladl1 |
C |
T |
19: 6,164,896 (GRCm39) |
T628I |
possibly damaging |
Het |
| Nell1 |
C |
T |
7: 49,929,281 (GRCm39) |
Q259* |
probably null |
Het |
| Neu2 |
G |
T |
1: 87,524,698 (GRCm39) |
E228* |
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,835 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or5k15 |
A |
G |
16: 58,709,824 (GRCm39) |
F253S |
probably damaging |
Het |
| Or8g21 |
T |
G |
9: 38,906,732 (GRCm39) |
|
probably benign |
Het |
| Or8k20 |
T |
C |
2: 86,106,580 (GRCm39) |
N84D |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
| Palm |
T |
C |
10: 79,652,617 (GRCm39) |
|
probably benign |
Het |
| Parp8 |
C |
A |
13: 117,047,497 (GRCm39) |
|
probably benign |
Het |
| Pax7 |
A |
G |
4: 139,556,798 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
G |
A |
19: 5,735,423 (GRCm39) |
R468W |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,702,722 (GRCm39) |
V818D |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,241,147 (GRCm39) |
V694I |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,760,877 (GRCm39) |
|
probably benign |
Het |
| Polb |
T |
C |
8: 23,130,367 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,599,755 (GRCm39) |
T320A |
probably damaging |
Het |
| Reg3b |
G |
A |
6: 78,349,183 (GRCm39) |
W103* |
probably null |
Het |
| Slc17a3 |
T |
G |
13: 24,039,962 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
C |
T |
2: 127,071,962 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
A |
C |
3: 99,259,514 (GRCm39) |
M462L |
possibly damaging |
Het |
| Tcirg1 |
G |
A |
19: 3,948,811 (GRCm39) |
T458I |
probably damaging |
Het |
| Tnfrsf25 |
A |
G |
4: 152,201,384 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,155 (GRCm39) |
K1060E |
probably damaging |
Het |
| Ttc16 |
T |
C |
2: 32,664,457 (GRCm39) |
D3G |
possibly damaging |
Het |
| Vmn1r199 |
A |
C |
13: 22,567,299 (GRCm39) |
N155H |
probably damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
|
| Other mutations in Stox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02234:Stox2
|
APN |
8 |
47,646,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Stox2
|
APN |
8 |
47,644,979 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02399:Stox2
|
APN |
8 |
47,639,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03091:Stox2
|
APN |
8 |
47,646,222 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03307:Stox2
|
APN |
8 |
47,647,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:Stox2
|
UTSW |
8 |
47,656,317 (GRCm39) |
splice site |
probably benign |
|
|
R0313:Stox2
|
UTSW |
8 |
47,645,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Stox2
|
UTSW |
8 |
47,656,319 (GRCm39) |
splice site |
probably benign |
|
|
R0513:Stox2
|
UTSW |
8 |
47,646,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Stox2
|
UTSW |
8 |
47,647,070 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0920:Stox2
|
UTSW |
8 |
47,646,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Stox2
|
UTSW |
8 |
47,647,051 (GRCm39) |
nonsense |
probably null |
|
|
R1923:Stox2
|
UTSW |
8 |
47,646,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2311:Stox2
|
UTSW |
8 |
47,645,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Stox2
|
UTSW |
8 |
47,645,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3715:Stox2
|
UTSW |
8 |
47,866,187 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4300:Stox2
|
UTSW |
8 |
47,647,027 (GRCm39) |
nonsense |
probably null |
|
|
R4534:Stox2
|
UTSW |
8 |
47,646,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Stox2
|
UTSW |
8 |
47,646,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Stox2
|
UTSW |
8 |
47,645,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Stox2
|
UTSW |
8 |
47,656,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4944:Stox2
|
UTSW |
8 |
47,866,300 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5331:Stox2
|
UTSW |
8 |
47,866,662 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5349:Stox2
|
UTSW |
8 |
47,740,951 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5367:Stox2
|
UTSW |
8 |
47,656,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Stox2
|
UTSW |
8 |
47,646,548 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5561:Stox2
|
UTSW |
8 |
47,646,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5630:Stox2
|
UTSW |
8 |
47,644,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Stox2
|
UTSW |
8 |
47,866,172 (GRCm39) |
nonsense |
probably null |
|
|
R5733:Stox2
|
UTSW |
8 |
47,866,172 (GRCm39) |
nonsense |
probably null |
|
|
R5996:Stox2
|
UTSW |
8 |
47,656,182 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6170:Stox2
|
UTSW |
8 |
47,645,055 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6458:Stox2
|
UTSW |
8 |
47,645,079 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6786:Stox2
|
UTSW |
8 |
47,639,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:Stox2
|
UTSW |
8 |
47,646,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6951:Stox2
|
UTSW |
8 |
47,656,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7193:Stox2
|
UTSW |
8 |
47,639,489 (GRCm39) |
missense |
probably benign |
|
|
R7330:Stox2
|
UTSW |
8 |
47,645,271 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7552:Stox2
|
UTSW |
8 |
47,656,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8001:Stox2
|
UTSW |
8 |
47,639,512 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8266:Stox2
|
UTSW |
8 |
47,645,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8506:Stox2
|
UTSW |
8 |
47,645,108 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8935:Stox2
|
UTSW |
8 |
47,645,895 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9261:Stox2
|
UTSW |
8 |
47,645,441 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9325:Stox2
|
UTSW |
8 |
47,647,095 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9505:Stox2
|
UTSW |
8 |
47,645,304 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0027:Stox2
|
UTSW |
8 |
47,646,875 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Stox2
|
UTSW |
8 |
47,647,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation