Incidental Mutation 'R1923:Stox2'
| ID |
213222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stox2
|
| Ensembl Gene |
ENSMUSG00000038143 |
| Gene Name |
storkhead box 2 |
| Synonyms |
4933409N07Rik |
| MMRRC Submission |
039941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R1923 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 47646661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 266
(F266L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147477
(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: F266L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: F266L
| 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: F204L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: F204L
| 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: F204L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210153
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211737
AA Change: F266L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211882
AA Change: F330L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1483 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,743 (GRCm39) |
E163G |
probably damaging |
Het |
| 4921513D11Rik |
A |
G |
17: 79,935,562 (GRCm39) |
|
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,749,459 (GRCm39) |
F195I |
possibly damaging |
Het |
| Acsl6 |
T |
C |
11: 54,216,417 (GRCm39) |
Y135H |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,781,083 (GRCm39) |
A2045E |
probably benign |
Het |
| Ap5z1 |
A |
G |
5: 142,458,096 (GRCm39) |
H423R |
probably benign |
Het |
| Arsk |
T |
A |
13: 76,214,985 (GRCm39) |
|
probably benign |
Het |
| Bpi |
G |
A |
2: 158,103,083 (GRCm39) |
G76D |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,739,861 (GRCm39) |
T983A |
probably damaging |
Het |
| Ccdc192 |
A |
T |
18: 57,666,959 (GRCm39) |
D12V |
probably damaging |
Het |
| Chmp2b |
A |
T |
16: 65,342,213 (GRCm39) |
M125K |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,511,491 (GRCm39) |
I26L |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,315,337 (GRCm39) |
Y3032C |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,101,850 (GRCm39) |
D226V |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,535,541 (GRCm39) |
D362V |
probably damaging |
Het |
| Fam53b |
A |
G |
7: 132,317,521 (GRCm39) |
S374P |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,260,066 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
C |
T |
3: 108,784,003 (GRCm39) |
R202H |
probably benign |
Het |
| Frmd4b |
T |
G |
6: 97,265,415 (GRCm39) |
D951A |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,877,162 (GRCm39) |
Y107H |
probably damaging |
Het |
| Gm11595 |
A |
T |
11: 99,663,365 (GRCm39) |
V105E |
unknown |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,713,242 (GRCm39) |
Q448K |
probably benign |
Het |
| Ly6g5c |
A |
G |
17: 35,330,863 (GRCm39) |
I128M |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,903,860 (GRCm39) |
S51C |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,970,828 (GRCm39) |
S2G |
probably benign |
Het |
| Nat8f4 |
A |
G |
6: 85,878,497 (GRCm39) |
Y9H |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,267,836 (GRCm39) |
V2A |
probably benign |
Het |
| Or2y1 |
C |
T |
11: 49,386,131 (GRCm39) |
T257I |
probably damaging |
Het |
| Or7g19 |
C |
T |
9: 18,856,781 (GRCm39) |
T279I |
probably benign |
Het |
| Or8k32 |
T |
G |
2: 86,368,857 (GRCm39) |
Y132S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,324,394 (GRCm39) |
T83K |
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Retreg1 |
A |
G |
15: 25,969,924 (GRCm39) |
D109G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,189,613 (GRCm39) |
W674R |
probably damaging |
Het |
| Rgs18 |
T |
C |
1: 144,631,818 (GRCm39) |
D98G |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,715 (GRCm39) |
F57S |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,282,889 (GRCm39) |
V737D |
probably damaging |
Het |
| Slc22a20 |
C |
A |
19: 6,021,464 (GRCm39) |
V513L |
probably benign |
Het |
| Tbx21 |
C |
T |
11: 96,990,863 (GRCm39) |
V272M |
probably damaging |
Het |
| Tmc7 |
A |
G |
7: 118,144,850 (GRCm39) |
F570S |
probably benign |
Het |
| Tmem236 |
T |
C |
2: 14,224,117 (GRCm39) |
I302T |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,862,776 (GRCm39) |
L506S |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,218,694 (GRCm39) |
I78V |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,828,328 (GRCm39) |
V844D |
probably damaging |
Het |
| Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
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 |
|
|
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'- TTTCCACCGTCAAGTCTGG -3'
(R):5'- AGAAAGCACTGCGACTCTTG -3'
Sequencing Primer
(F):5'- CACCGTCAAGTCTGGGTTGATC -3'
(R):5'- ACTGCTGCCGAGAAGACGTG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation