Incidental Mutation 'R8506:Stox2'
| ID |
655576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stox2
|
| Ensembl Gene |
ENSMUSG00000038143 |
| Gene Name |
storkhead box 2 |
| Synonyms |
4933409N07Rik |
| MMRRC Submission |
067842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R8506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47645108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 784
(E784G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078190
(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: E784G
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: E784G
| 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: E722G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: E722G
| 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: E722G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210153
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211737
AA Change: E784G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211882
AA Change: E848G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
T |
9: 101,820,171 (GRCm39) |
E197V |
possibly damaging |
Het |
| Alkbh8 |
C |
T |
9: 3,335,616 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,586,851 (GRCm39) |
A498T |
probably damaging |
Het |
| Antxr1 |
T |
A |
6: 87,165,155 (GRCm39) |
E427D |
possibly damaging |
Het |
| App |
A |
C |
16: 84,879,704 (GRCm39) |
V143G |
unknown |
Het |
| Bod1l |
C |
A |
5: 41,976,398 (GRCm39) |
E1639* |
probably null |
Het |
| C2cd2 |
T |
C |
16: 97,676,621 (GRCm39) |
D122G |
|
Het |
| Ccdc88b |
G |
T |
19: 6,824,690 (GRCm39) |
P1357T |
probably damaging |
Het |
| Ccnyl1 |
A |
G |
1: 64,753,821 (GRCm39) |
T211A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,720,820 (GRCm39) |
Y434H |
probably damaging |
Het |
| Ceacam16 |
C |
A |
7: 19,586,195 (GRCm39) |
A106S |
unknown |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chpf2 |
T |
C |
5: 24,793,295 (GRCm39) |
L87P |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,481,944 (GRCm39) |
I60N |
unknown |
Het |
| Cux1 |
T |
A |
5: 136,337,358 (GRCm39) |
E718V |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,208,481 (GRCm39) |
I1845L |
probably benign |
Het |
| Disp3 |
C |
T |
4: 148,326,027 (GRCm39) |
V1244I |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,940,108 (GRCm39) |
S1685P |
probably benign |
Het |
| Etnppl |
G |
A |
3: 130,423,122 (GRCm39) |
V274I |
possibly damaging |
Het |
| Evc2 |
T |
C |
5: 37,540,486 (GRCm39) |
S561P |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,940,623 (GRCm39) |
E759G |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,103,157 (GRCm39) |
F372S |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,173,806 (GRCm39) |
T868A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,380,863 (GRCm39) |
D3580G |
possibly damaging |
Het |
| Hmbs |
A |
G |
9: 44,252,921 (GRCm39) |
|
probably null |
Het |
| Ibsp |
A |
T |
5: 104,457,947 (GRCm39) |
E161D |
probably damaging |
Het |
| Ighv8-4 |
A |
G |
12: 114,987,728 (GRCm39) |
V90A |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,319,914 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
A |
10: 112,291,537 (GRCm39) |
F242I |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,628 (GRCm39) |
I229T |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,379,360 (GRCm39) |
L1791F |
probably damaging |
Het |
| Med6 |
A |
T |
12: 81,641,734 (GRCm39) |
M1K |
probably null |
Het |
| Mei4 |
A |
G |
9: 81,861,291 (GRCm39) |
D294G |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,562,582 (GRCm39) |
I585V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,650,759 (GRCm39) |
V432A |
probably damaging |
Het |
| Nlrp4c |
G |
T |
7: 6,103,775 (GRCm39) |
G903V |
possibly damaging |
Het |
| Nrf1 |
G |
A |
6: 30,126,256 (GRCm39) |
A416T |
probably benign |
Het |
| Nsl1 |
G |
C |
1: 190,808,832 (GRCm39) |
C173S |
unknown |
Het |
| Obsl1 |
G |
A |
1: 75,482,300 (GRCm39) |
A190V |
probably benign |
Het |
| Or13a22 |
G |
A |
7: 140,073,336 (GRCm39) |
V262I |
probably benign |
Het |
| Or51f1d |
T |
A |
7: 102,700,709 (GRCm39) |
M68K |
probably damaging |
Het |
| Or5b3 |
A |
G |
19: 13,388,604 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,181 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,058,922 (GRCm39) |
L131P |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,745 (GRCm39) |
D19G |
probably benign |
Het |
| Osbpl1a |
G |
A |
18: 12,901,643 (GRCm39) |
T621I |
probably benign |
Het |
| Pabpc4l |
G |
A |
3: 46,400,832 (GRCm39) |
R271* |
probably null |
Het |
| Paics |
A |
T |
5: 77,112,437 (GRCm39) |
D307V |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,737 (GRCm39) |
D522G |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,590,759 (GRCm39) |
C1020S |
unknown |
Het |
| Pfkfb4 |
T |
G |
9: 108,834,667 (GRCm39) |
D113E |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,017,830 (GRCm39) |
Y202C |
probably damaging |
Het |
| Pmp22 |
T |
A |
11: 63,049,090 (GRCm39) |
M111K |
probably damaging |
Het |
| Pole2 |
A |
C |
12: 69,255,734 (GRCm39) |
S344A |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,789 (GRCm39) |
T687A |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,114,181 (GRCm38) |
S313P |
probably damaging |
Het |
| Rd3 |
T |
G |
1: 191,715,228 (GRCm39) |
M1R |
probably null |
Het |
| Rtn4ip1 |
G |
A |
10: 43,804,352 (GRCm39) |
V235I |
probably benign |
Het |
| Senp5 |
T |
C |
16: 31,787,719 (GRCm39) |
I635V |
probably damaging |
Het |
| Syce2 |
A |
T |
8: 85,613,795 (GRCm39) |
D168V |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,529 (GRCm39) |
S6P |
probably benign |
Het |
| Tbc1d16 |
A |
C |
11: 119,039,784 (GRCm39) |
H675Q |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,327 (GRCm39) |
I371N |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,218,150 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,270 (GRCm39) |
S17P |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,627 (GRCm39) |
N98Y |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,446,891 (GRCm39) |
D515E |
probably benign |
Het |
| Yeats2 |
T |
G |
16: 19,971,684 (GRCm39) |
I42M |
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 |
|
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'- GGGGAGTTGAATCCACTGTC -3'
(R):5'- TCACCCAAAGTCACCCGTTG -3'
Sequencing Primer
(F):5'- GAGTTGAATCCACTGTCCACCG -3'
(R):5'- TTGACACACTGCCAGGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation