Incidental Mutation 'R4416:Stox1'
| ID |
326847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stox1
|
| Ensembl Gene |
ENSMUSG00000036923 |
| Gene Name |
storkhead box 1 |
| Synonyms |
4732470K04Rik |
| MMRRC Submission |
041137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R4416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62494822-62561907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62495348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 975
(N975S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133371]
[ENSMUST00000148720]
|
| AlphaFold |
B2RQL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133371
AA Change: N975S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923
AA Change: N975S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
Pfam:Stork_head
|
108 |
186 |
4.4e-37 |
PFAM |
|
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148720
|
| SMART Domains |
Protein: ENSMUSP00000116180
Gene: ENSMUSG00000036923
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Stork_head
|
19 |
98 |
9e-40 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
A |
15: 59,888,272 (GRCm39) |
E56V |
possibly damaging |
Het |
| Adam28 |
A |
G |
14: 68,859,531 (GRCm39) |
|
probably null |
Het |
| Bnc1 |
G |
T |
7: 81,618,708 (GRCm39) |
H786N |
probably benign |
Het |
| Cav1 |
T |
A |
6: 17,339,248 (GRCm39) |
M100K |
probably benign |
Het |
| Cdk9 |
A |
G |
2: 32,598,084 (GRCm39) |
L273P |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,026,703 (GRCm39) |
Q484R |
probably benign |
Het |
| Elfn1 |
T |
C |
5: 139,957,949 (GRCm39) |
S318P |
possibly damaging |
Het |
| Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
| Fhip2a |
G |
T |
19: 57,373,829 (GRCm39) |
|
probably null |
Het |
| Frmd6 |
T |
A |
12: 70,924,023 (GRCm39) |
Y94N |
probably benign |
Het |
| Gdpd1 |
A |
T |
11: 86,926,114 (GRCm39) |
V277D |
probably benign |
Het |
| Grik1 |
C |
A |
16: 87,848,349 (GRCm39) |
V140L |
probably benign |
Het |
| Grpel1 |
A |
G |
5: 36,628,616 (GRCm39) |
H175R |
probably damaging |
Het |
| Gtdc1 |
G |
T |
2: 44,465,602 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
T |
10: 14,004,914 (GRCm39) |
Q504L |
probably benign |
Het |
| Icos |
A |
T |
1: 61,033,849 (GRCm39) |
I160L |
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,234,213 (GRCm39) |
C442F |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,565,562 (GRCm39) |
V1062A |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 40,553,679 (GRCm39) |
V386I |
unknown |
Het |
| Lrp2 |
G |
T |
2: 69,357,575 (GRCm39) |
F409L |
probably benign |
Het |
| Nadk |
T |
G |
4: 155,672,183 (GRCm39) |
Y291* |
probably null |
Het |
| Nudt6 |
A |
T |
3: 37,459,378 (GRCm39) |
|
probably null |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,218 (GRCm39) |
T240I |
probably benign |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Or8d6 |
A |
G |
9: 39,853,724 (GRCm39) |
H56R |
probably damaging |
Het |
| Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
| Pds5b |
C |
T |
5: 150,659,861 (GRCm39) |
P275S |
probably damaging |
Het |
| Pdzd7 |
T |
A |
19: 45,029,019 (GRCm39) |
E117V |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,515,679 (GRCm39) |
V784A |
probably damaging |
Het |
| Polr3e |
T |
C |
7: 120,538,280 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 185,014,544 (GRCm39) |
D1231V |
probably benign |
Het |
| Rapgef2 |
C |
A |
3: 78,976,364 (GRCm39) |
G1481* |
probably null |
Het |
| Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,097,008 (GRCm39) |
D96G |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Srp9 |
A |
T |
1: 181,958,976 (GRCm39) |
M50L |
probably benign |
Het |
| Sult1d1 |
A |
G |
5: 87,706,435 (GRCm39) |
F169S |
probably damaging |
Het |
| Tmem63c |
C |
G |
12: 87,128,676 (GRCm39) |
T567R |
probably benign |
Het |
| Tmf1 |
G |
T |
6: 97,155,949 (GRCm39) |
F12L |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,089,071 (GRCm39) |
I342T |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 65,968,606 (GRCm39) |
N712K |
probably damaging |
Het |
| Vti1a |
T |
G |
19: 55,369,380 (GRCm39) |
S91A |
probably benign |
Het |
|
| Other mutations in Stox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Stox1
|
APN |
10 |
62,503,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01462:Stox1
|
APN |
10 |
62,500,461 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01558:Stox1
|
APN |
10 |
62,503,651 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02391:Stox1
|
APN |
10 |
62,495,455 (GRCm39) |
splice site |
probably benign |
|
|
IGL02454:Stox1
|
APN |
10 |
62,503,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02510:Stox1
|
APN |
10 |
62,499,826 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02635:Stox1
|
APN |
10 |
62,500,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1036:Stox1
|
UTSW |
10 |
62,503,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Stox1
|
UTSW |
10 |
62,500,415 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1751:Stox1
|
UTSW |
10 |
62,495,445 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1763:Stox1
|
UTSW |
10 |
62,503,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Stox1
|
UTSW |
10 |
62,501,178 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2128:Stox1
|
UTSW |
10 |
62,500,314 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2406:Stox1
|
UTSW |
10 |
62,499,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4078:Stox1
|
UTSW |
10 |
62,501,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4414:Stox1
|
UTSW |
10 |
62,495,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4415:Stox1
|
UTSW |
10 |
62,495,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4417:Stox1
|
UTSW |
10 |
62,495,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4799:Stox1
|
UTSW |
10 |
62,501,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Stox1
|
UTSW |
10 |
62,503,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5323:Stox1
|
UTSW |
10 |
62,499,812 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5885:Stox1
|
UTSW |
10 |
62,500,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6182:Stox1
|
UTSW |
10 |
62,500,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7548:Stox1
|
UTSW |
10 |
62,501,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7757:Stox1
|
UTSW |
10 |
62,499,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7765:Stox1
|
UTSW |
10 |
62,501,778 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7846:Stox1
|
UTSW |
10 |
62,495,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Stox1
|
UTSW |
10 |
62,500,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8077:Stox1
|
UTSW |
10 |
62,501,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8409:Stox1
|
UTSW |
10 |
62,501,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8413:Stox1
|
UTSW |
10 |
62,500,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Stox1
|
UTSW |
10 |
62,501,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Stox1
|
UTSW |
10 |
62,499,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Stox1
|
UTSW |
10 |
62,495,386 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8895:Stox1
|
UTSW |
10 |
62,495,386 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8937:Stox1
|
UTSW |
10 |
62,500,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9012:Stox1
|
UTSW |
10 |
62,500,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9201:Stox1
|
UTSW |
10 |
62,501,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Stox1
|
UTSW |
10 |
62,500,025 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1176:Stox1
|
UTSW |
10 |
62,499,797 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTTCCAAGGACTTTCAC -3'
(R):5'- TCCTAATGGTACTGGGAGGC -3'
Sequencing Primer
(F):5'- CCAGTTTCTACAAGAGTTCTCCAAAG -3'
(R):5'- ACATGAGAATGTGTTTCTGAAGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation