Incidental Mutation 'R8409:Stox1'
| ID |
652589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stox1
|
| Ensembl Gene |
ENSMUSG00000036923 |
| Gene Name |
storkhead box 1 |
| Synonyms |
4732470K04Rik |
| MMRRC Submission |
067766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R8409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62494822-62561907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62501795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 255
(L255P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126979]
[ENSMUST00000133371]
[ENSMUST00000148720]
|
| AlphaFold |
B2RQL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133371
AA Change: L255P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923
AA Change: L255P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
G |
5: 121,639,540 (GRCm39) |
N502H |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,953,495 (GRCm39) |
S2082R |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,453,544 (GRCm39) |
T1636A |
probably benign |
Het |
| Cep83 |
C |
T |
10: 94,573,839 (GRCm39) |
Q243* |
probably null |
Het |
| Dlg5 |
T |
G |
14: 24,226,546 (GRCm39) |
E452A |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,208 (GRCm39) |
D760E |
probably damaging |
Het |
| Elob |
G |
A |
17: 24,043,933 (GRCm39) |
R89C |
probably benign |
Het |
| En2 |
T |
C |
5: 28,371,882 (GRCm39) |
S120P |
probably benign |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Extl2 |
G |
T |
3: 115,820,911 (GRCm39) |
V253F |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,881 (GRCm39) |
E92G |
probably benign |
Het |
| Fbxo25 |
A |
T |
8: 13,964,999 (GRCm39) |
K17* |
probably null |
Het |
| Fig4 |
A |
T |
10: 41,141,427 (GRCm39) |
S277R |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,659,784 (GRCm39) |
S429P |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,891,297 (GRCm39) |
I177V |
probably benign |
Het |
| H13 |
C |
T |
2: 152,531,813 (GRCm39) |
P239L |
possibly damaging |
Het |
| Il12rb1 |
T |
A |
8: 71,269,187 (GRCm39) |
S456T |
possibly damaging |
Het |
| Irgq |
A |
G |
7: 24,233,209 (GRCm39) |
D350G |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,449,784 (GRCm39) |
S118P |
possibly damaging |
Het |
| Itpka |
C |
T |
2: 119,580,341 (GRCm39) |
R329C |
probably damaging |
Het |
| Itpripl1 |
G |
T |
2: 126,982,686 (GRCm39) |
Q479K |
probably benign |
Het |
| Kbtbd2 |
T |
C |
6: 56,757,341 (GRCm39) |
N132D |
probably damaging |
Het |
| Klb |
T |
C |
5: 65,536,878 (GRCm39) |
V736A |
probably damaging |
Het |
| Klhl3 |
T |
C |
13: 58,167,242 (GRCm39) |
D374G |
probably damaging |
Het |
| Mmp14 |
T |
A |
14: 54,678,125 (GRCm39) |
V582D |
probably damaging |
Het |
| Naalad2 |
A |
G |
9: 18,242,134 (GRCm39) |
V590A |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,197 (GRCm39) |
T50A |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,477 (GRCm39) |
M4K |
probably benign |
Het |
| Or7h8 |
T |
G |
9: 20,123,542 (GRCm39) |
|
probably benign |
Het |
| Pianp |
T |
C |
6: 124,976,214 (GRCm39) |
S8P |
unknown |
Het |
| Ppbp |
T |
C |
5: 90,916,486 (GRCm39) |
S9P |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,752 (GRCm39) |
I696T |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,760,856 (GRCm39) |
S27P |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,086,897 (GRCm39) |
R1561S |
|
Het |
| Rassf8 |
A |
G |
6: 145,761,429 (GRCm39) |
T252A |
probably benign |
Het |
| Rpe65 |
T |
A |
3: 159,319,785 (GRCm39) |
D218E |
probably benign |
Het |
| Sec23ip |
G |
A |
7: 128,365,855 (GRCm39) |
V575I |
probably damaging |
Het |
| Slc38a3 |
G |
A |
9: 107,536,454 (GRCm39) |
|
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 97,003,663 (GRCm39) |
C495Y |
probably damaging |
Het |
| Speer4f2 |
C |
A |
5: 17,582,419 (GRCm39) |
T214K |
|
Het |
| Sympk |
A |
G |
7: 18,786,363 (GRCm39) |
M989V |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,402,452 (GRCm39) |
Y202N |
possibly damaging |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
C |
11: 23,407,811 (GRCm39) |
S2593P |
|
Het |
| Vmn2r85 |
A |
G |
10: 130,261,257 (GRCm39) |
V360A |
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 |
|
R4416: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 |
|
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'- GCTGAGAAACTGTGGTACTCG -3'
(R):5'- GCAGGGAAATAAAAGTGCTCTCC -3'
Sequencing Primer
(F):5'- CTTTTCTAGATAAGCTGCGCCACAAG -3'
(R):5'- AGTGCTCTCCTGTCAAACGAAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation