Incidental Mutation 'R0382:Stox2'
| ID |
31018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stox2
|
| Ensembl Gene |
ENSMUSG00000038143 |
| Gene Name |
storkhead box 2 |
| Synonyms |
4933409N07Rik |
| MMRRC Submission |
038588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R0382 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 47656319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211737
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211882
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| Validation Efficiency |
98% (58/59) |
| 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 |
|---|
| Aak1 |
A |
T |
6: 86,923,901 (GRCm39) |
Q266L |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,586,650 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
T |
C |
11: 80,069,211 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,545 (GRCm39) |
R662G |
possibly damaging |
Het |
| Celsr3 |
C |
A |
9: 108,706,417 (GRCm39) |
P967T |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,802,680 (GRCm39) |
|
probably benign |
Het |
| Ckm |
T |
C |
7: 19,155,309 (GRCm39) |
*382Q |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,315,403 (GRCm39) |
V73A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,256 (GRCm39) |
V1944E |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,632,754 (GRCm39) |
D1473V |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,435,342 (GRCm39) |
M172T |
probably benign |
Het |
| Dcaf12 |
T |
C |
4: 41,302,672 (GRCm39) |
N161S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,822 (GRCm39) |
Y75C |
probably damaging |
Het |
| Efcab7 |
T |
C |
4: 99,758,966 (GRCm39) |
V388A |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,871,052 (GRCm39) |
C3780R |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,458,021 (GRCm39) |
*401R |
probably null |
Het |
| Fbxo5 |
G |
T |
10: 5,751,176 (GRCm39) |
Y270* |
probably null |
Het |
| Fnbp1l |
A |
T |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,613,141 (GRCm39) |
S3P |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,001,080 (GRCm39) |
D309G |
probably damaging |
Het |
| Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,669 (GRCm39) |
D192G |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,444,631 (GRCm39) |
S1080P |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,536,971 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
A |
G |
15: 88,869,796 (GRCm39) |
Y59C |
possibly damaging |
Het |
| Natd1 |
C |
T |
11: 60,797,739 (GRCm39) |
R62H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,931,132 (GRCm39) |
T5835A |
probably damaging |
Het |
| Or4c31 |
A |
T |
2: 88,292,069 (GRCm39) |
R147S |
possibly damaging |
Het |
| Or5j3 |
A |
G |
2: 86,128,937 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or6c66b |
T |
C |
10: 129,376,883 (GRCm39) |
I159T |
probably benign |
Het |
| Or7a38 |
T |
A |
10: 78,752,960 (GRCm39) |
Y95* |
probably null |
Het |
| P2rx2 |
T |
A |
5: 110,489,045 (GRCm39) |
E289V |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,902,596 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,591 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
C |
T |
3: 36,235,118 (GRCm39) |
C253Y |
possibly damaging |
Het |
| Rad21l |
A |
T |
2: 151,487,363 (GRCm39) |
D540E |
probably damaging |
Het |
| Rbm45 |
T |
A |
2: 76,200,555 (GRCm39) |
I28N |
possibly damaging |
Het |
| Rnf170 |
A |
T |
8: 26,615,927 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
G |
A |
15: 80,892,515 (GRCm39) |
W280* |
probably null |
Het |
| Slc9a9 |
A |
T |
9: 94,567,270 (GRCm39) |
H113L |
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,024,183 (GRCm39) |
C78F |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,920,360 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn8 |
T |
A |
11: 82,895,382 (GRCm39) |
I475F |
probably damaging |
Het |
| Strbp |
A |
T |
2: 37,490,838 (GRCm39) |
N472K |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,411,760 (GRCm39) |
|
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,478,150 (GRCm39) |
L664P |
probably damaging |
Het |
| Uap1 |
T |
A |
1: 169,989,051 (GRCm39) |
M124L |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,348,529 (GRCm39) |
N536S |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,619,848 (GRCm39) |
I155F |
probably damaging |
Het |
| Utp4 |
T |
C |
8: 107,649,567 (GRCm39) |
I672T |
probably benign |
Het |
| Vmn1r94 |
A |
T |
7: 19,901,578 (GRCm39) |
M242K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,098 (GRCm39) |
N397H |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,463 (GRCm39) |
Y395C |
probably damaging |
Het |
| Vps41 |
C |
A |
13: 19,011,897 (GRCm39) |
H335N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAAAGCCCTGGAGCCCACATTC -3'
(R):5'- TGCCGAGATGATTTGAGCATCCAC -3'
Sequencing Primer
(F):5'- ACAGCCCTTTGGAAAGAGC -3'
(R):5'- TCTTTCCACAGGAGTGGAGT -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation