Incidental Mutation 'R9505:Stox2'
| ID |
717780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stox2
|
| Ensembl Gene |
ENSMUSG00000038143 |
| Gene Name |
storkhead box 2 |
| Synonyms |
4933409N07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R9505 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47645304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 719
(S719T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078190
(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: S719T
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: S719T
| 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 |
probably benign
Transcript: ENSMUST00000110367
AA Change: S657T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: S657T
| 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 |
probably benign
Transcript: ENSMUST00000210030
AA Change: S657T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211737
AA Change: S719T
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211882
AA Change: S783T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,185,782 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
C |
7: 66,774,683 (GRCm39) |
N961T |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,855,751 (GRCm39) |
T373I |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,385,522 (GRCm39) |
E85A |
probably benign |
Het |
| Brca1 |
G |
T |
11: 101,403,592 (GRCm39) |
H1437N |
probably benign |
Het |
| Camk2n1 |
T |
C |
4: 138,182,567 (GRCm39) |
I24T |
possibly damaging |
Het |
| Ces2f |
T |
A |
8: 105,676,669 (GRCm39) |
M121K |
probably benign |
Het |
| Cfap299 |
A |
G |
5: 98,477,213 (GRCm39) |
M1V |
probably null |
Het |
| CN725425 |
T |
A |
15: 91,124,867 (GRCm39) |
Y136N |
possibly damaging |
Het |
| Ctla2a |
T |
A |
13: 61,084,342 (GRCm39) |
M2L |
unknown |
Het |
| Cyp3a57 |
A |
T |
5: 145,286,139 (GRCm39) |
Y25F |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,697,297 (GRCm39) |
V87M |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,644,912 (GRCm39) |
I1123N |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,841,909 (GRCm39) |
K615* |
probably null |
Het |
| Fkbp10 |
G |
T |
11: 100,306,826 (GRCm39) |
E73* |
probably null |
Het |
| Flnb |
C |
A |
14: 7,904,665 (GRCm38) |
H1023N |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,613,026 (GRCm39) |
Q312H |
|
Het |
| Garre1 |
A |
T |
7: 33,984,371 (GRCm39) |
L84Q |
probably damaging |
Het |
| Htr1d |
A |
T |
4: 136,170,889 (GRCm39) |
I373F |
probably benign |
Het |
| Inhba |
G |
A |
13: 16,201,356 (GRCm39) |
R306H |
probably damaging |
Het |
| Inka1 |
T |
A |
9: 107,862,092 (GRCm39) |
K75* |
probably null |
Het |
| Iqcg |
A |
T |
16: 32,861,247 (GRCm39) |
D156E |
probably benign |
Het |
| Ireb2 |
C |
A |
9: 54,813,921 (GRCm39) |
T798K |
probably damaging |
Het |
| Klk1b8 |
G |
A |
7: 43,451,605 (GRCm39) |
A199T |
probably damaging |
Het |
| Lgi2 |
T |
C |
5: 52,711,775 (GRCm39) |
T182A |
probably benign |
Het |
| Ltbp2 |
C |
A |
12: 84,900,638 (GRCm39) |
R228L |
probably damaging |
Het |
| Lyrm1 |
A |
G |
7: 119,509,090 (GRCm39) |
K22E |
possibly damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,339,897 (GRCm39) |
D967G |
probably benign |
Het |
| Nr6a1 |
C |
T |
2: 38,630,485 (GRCm39) |
R259Q |
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,687,929 (GRCm39) |
N20D |
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,167,446 (GRCm39) |
I48M |
probably benign |
Het |
| Or51i1 |
C |
A |
7: 103,670,698 (GRCm39) |
V276F |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,958,812 (GRCm39) |
I92N |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,664 (GRCm39) |
I348K |
possibly damaging |
Het |
| Phf2 |
C |
T |
13: 48,957,134 (GRCm39) |
A1078T |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,487,049 (GRCm39) |
V560A |
probably benign |
Het |
| Slc27a4 |
A |
G |
2: 29,701,608 (GRCm39) |
I409V |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,809,017 (GRCm39) |
|
probably null |
Het |
| Spon1 |
A |
G |
7: 113,632,311 (GRCm39) |
T545A |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,877,722 (GRCm39) |
S772P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 4,980,394 (GRCm39) |
V864A |
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,180,579 (GRCm39) |
S836G |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,439,577 (GRCm39) |
E298* |
probably null |
Het |
| Tmem52 |
A |
G |
4: 155,554,615 (GRCm39) |
T114A |
probably damaging |
Het |
| Trim36 |
C |
A |
18: 46,329,281 (GRCm39) |
C53F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,720,811 (GRCm39) |
K6871R |
unknown |
Het |
| Ttn |
C |
A |
2: 76,715,468 (GRCm39) |
|
probably null |
Het |
| Ube2d1 |
T |
C |
10: 71,098,094 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,838,824 (GRCm39) |
T676A |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,878,838 (GRCm39) |
D1029E |
unknown |
Het |
| Vps13a |
A |
T |
19: 16,719,908 (GRCm39) |
Y417N |
possibly damaging |
Het |
| Zfp729a |
C |
T |
13: 67,767,673 (GRCm39) |
C852Y |
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 |
|
IGL03091:Stox2
|
APN |
8 |
47,646,222 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCGTCGTCATCAGAGAC -3'
(R):5'- AACCTGTTGGGCACAAGGAG -3'
Sequencing Primer
(F):5'- CGTTGTAATAGTCAAAAGAAGCCTCC -3'
(R):5'- TGTTGGGCACAAGGAGGAGTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation