Incidental Mutation 'R4534:Stox2'
| ID |
333244 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4534 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47646414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 287
(S287T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079195]
[ENSMUST00000110367]
[ENSMUST00000209337]
[ENSMUST00000210030]
[ENSMUST00000210153]
[ENSMUST00000211737]
[ENSMUST00000211882]
|
| AlphaFold |
Q499E5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079195
AA Change: S349T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: S349T
| 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 damaging
Transcript: ENSMUST00000110367
AA Change: S287T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: S287T
| 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 damaging
Transcript: ENSMUST00000210030
AA Change: S287T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210153
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211737
AA Change: S349T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211882
AA Change: S413T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
C |
T |
4: 98,926,232 (GRCm39) |
T454I |
possibly damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Clstn3 |
C |
T |
6: 124,436,179 (GRCm39) |
R190Q |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
C |
T |
5: 139,137,282 (GRCm39) |
Q212* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Eri2 |
T |
C |
7: 119,389,466 (GRCm39) |
T151A |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| Gm10320 |
G |
A |
13: 98,626,316 (GRCm39) |
P23S |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,217,814 (GRCm39) |
I240M |
possibly damaging |
Het |
| Heatr5b |
T |
C |
17: 79,118,025 (GRCm39) |
H806R |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,837,332 (GRCm39) |
V335A |
probably benign |
Het |
| Ifi205 |
G |
A |
1: 173,845,207 (GRCm39) |
P192S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna9 |
T |
C |
4: 88,510,285 (GRCm39) |
H113R |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,818,019 (GRCm39) |
F236S |
probably damaging |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Jmjd8 |
C |
T |
17: 26,047,984 (GRCm39) |
|
probably null |
Het |
| Lhx3 |
C |
T |
2: 26,094,026 (GRCm39) |
V66I |
probably benign |
Het |
| Nt5c2 |
C |
T |
19: 46,880,100 (GRCm39) |
C336Y |
probably damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,274,343 (GRCm39) |
V740I |
probably damaging |
Het |
| Ocln |
A |
T |
13: 100,648,112 (GRCm39) |
I104N |
possibly damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,613 (GRCm39) |
I101V |
probably benign |
Het |
| Or8g54 |
G |
T |
9: 39,707,296 (GRCm39) |
L208F |
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Sh3glb1 |
T |
A |
3: 144,405,624 (GRCm39) |
E77D |
possibly damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,757 (GRCm39) |
Y18C |
probably benign |
Het |
| Sycp2 |
C |
A |
2: 177,996,802 (GRCm39) |
V1134F |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,953,931 (GRCm39) |
S1260N |
possibly damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Thoc5 |
C |
T |
11: 4,874,807 (GRCm39) |
R533* |
probably null |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Uchl5 |
C |
T |
1: 143,661,954 (GRCm39) |
T76I |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Xpa |
T |
C |
4: 46,185,624 (GRCm39) |
N118S |
probably benign |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,557,176 (GRCm39) |
D105G |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGATGAAGCAGCCCTCTC -3'
(R):5'- CAGCTGGCCAATTTCTCTGC -3'
Sequencing Primer
(F):5'- CTGGGGGCCCTGGTTAGAG -3'
(R):5'- GCCCAGTTTCCTCCCGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation