Incidental Mutation 'IGL03091:Stox2'
| ID |
418383 |
| 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: 0.194)
|
| Stock # |
IGL03091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47646222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 477
(I477F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079195]
[ENSMUST00000110367]
[ENSMUST00000209337]
[ENSMUST00000210030]
[ENSMUST00000210153]
[ENSMUST00000211737]
[ENSMUST00000211882]
|
| AlphaFold |
Q499E5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079195
AA Change: I413F
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: I413F
| 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: I351F
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: I351F
| 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: I351F
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211737
AA Change: I413F
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211882
AA Change: I477F
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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
A |
T |
4: 126,352,982 (GRCm39) |
Y314N |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,219 (GRCm39) |
T78A |
possibly damaging |
Het |
| Arhgap33 |
G |
A |
7: 30,227,718 (GRCm39) |
P494S |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,943,022 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,691,386 (GRCm39) |
V174A |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,470,863 (GRCm39) |
R811C |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,016,897 (GRCm39) |
H598Q |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,041,228 (GRCm39) |
S211L |
probably damaging |
Het |
| Duox2 |
T |
G |
2: 122,119,955 (GRCm39) |
M852L |
probably benign |
Het |
| Fmc1 |
G |
T |
6: 38,516,170 (GRCm39) |
S72I |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,951 (GRCm39) |
C302R |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,786,615 (GRCm39) |
T184A |
possibly damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,542,828 (GRCm39) |
T29I |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,721,307 (GRCm39) |
|
probably null |
Het |
| Lipe |
A |
G |
7: 25,080,180 (GRCm39) |
L926P |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,993 (GRCm39) |
I2511F |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,992,725 (GRCm39) |
S294P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,161,324 (GRCm39) |
H2156L |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,885,951 (GRCm39) |
N335K |
probably damaging |
Het |
| Nox3 |
G |
T |
17: 3,716,119 (GRCm39) |
Q429K |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,441,076 (GRCm39) |
Y102* |
probably null |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,564 (GRCm39) |
R1671G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,503 (GRCm39) |
T504A |
possibly damaging |
Het |
| Pou5f1 |
G |
T |
17: 35,820,939 (GRCm39) |
R127L |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,523,174 (GRCm39) |
|
probably benign |
Het |
| Rassf8 |
T |
A |
6: 145,761,536 (GRCm39) |
N287K |
probably benign |
Het |
| Rdh16 |
T |
C |
10: 127,649,502 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,782,911 (GRCm39) |
A1901V |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,345,906 (GRCm39) |
Y343C |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,538,880 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,034,791 (GRCm39) |
V310M |
probably damaging |
Het |
| Terb1 |
A |
T |
8: 105,195,786 (GRCm39) |
H548Q |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,319 (GRCm39) |
M547I |
possibly damaging |
Het |
| Tuba8 |
G |
A |
6: 121,197,403 (GRCm39) |
E22K |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,438,968 (GRCm39) |
F364L |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,724 (GRCm39) |
Y608H |
probably damaging |
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 |
|
IGL03143:Stox2
|
APN |
8 |
47,646,839 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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