Incidental Mutation 'IGL02510:Stox1'
| ID |
296481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stox1
|
| Ensembl Gene |
ENSMUSG00000036923 |
| Gene Name |
storkhead box 1 |
| Synonyms |
4732470K04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
IGL02510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62494822-62561907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62499826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 911
(H911Q)
|
| 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: H911Q
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923
AA Change: H911Q
| 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 |
|
| 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 |
|---|
| Adamts4 |
G |
A |
1: 171,078,959 (GRCm39) |
S193N |
probably benign |
Het |
| Arrdc1 |
C |
A |
2: 24,825,112 (GRCm39) |
V16F |
probably damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,775,653 (GRCm39) |
Q392R |
probably benign |
Het |
| Bsx |
A |
T |
9: 40,785,517 (GRCm39) |
Q15L |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,639,704 (GRCm39) |
T253A |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,902,097 (GRCm39) |
L102P |
probably damaging |
Het |
| Cgnl1 |
G |
T |
9: 71,632,639 (GRCm39) |
N237K |
probably benign |
Het |
| Cldn14 |
T |
A |
16: 93,716,844 (GRCm39) |
M1L |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
| Col7a1 |
C |
A |
9: 108,802,299 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhrs2 |
G |
A |
14: 55,473,532 (GRCm39) |
V64M |
probably damaging |
Het |
| Disp3 |
G |
A |
4: 148,337,158 (GRCm39) |
H886Y |
probably benign |
Het |
| Dst |
G |
A |
1: 34,268,332 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
T |
C |
2: 90,581,819 (GRCm39) |
V215A |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,469 (GRCm39) |
L472P |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,319,973 (GRCm39) |
R15Q |
possibly damaging |
Het |
| Htra2 |
A |
G |
6: 83,028,592 (GRCm39) |
V412A |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,805,876 (GRCm39) |
F722S |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,723,154 (GRCm39) |
T741A |
probably benign |
Het |
| Kl |
A |
C |
5: 150,912,466 (GRCm39) |
E738D |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,036,506 (GRCm39) |
I178L |
probably damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,185 (GRCm39) |
E27G |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,957,125 (GRCm39) |
Y2145H |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,147,041 (GRCm39) |
M417K |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,882 (GRCm39) |
M75I |
probably benign |
Het |
| Mpeg1 |
A |
T |
19: 12,438,788 (GRCm39) |
D82V |
probably damaging |
Het |
| Msto1 |
A |
G |
3: 88,817,652 (GRCm39) |
Y439H |
probably damaging |
Het |
| Or1e17 |
G |
A |
11: 73,831,831 (GRCm39) |
G253E |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,693 (GRCm39) |
S28P |
possibly damaging |
Het |
| Or2av9 |
T |
C |
11: 58,381,365 (GRCm39) |
Y72C |
probably damaging |
Het |
| Or5p64 |
T |
A |
7: 107,855,348 (GRCm39) |
|
probably benign |
Het |
| Prtg |
G |
A |
9: 72,798,151 (GRCm39) |
V706M |
probably damaging |
Het |
| Sfxn2 |
G |
T |
19: 46,576,711 (GRCm39) |
A186S |
probably benign |
Het |
| Slc12a5 |
A |
T |
2: 164,824,728 (GRCm39) |
|
probably benign |
Het |
| Slc7a3 |
T |
C |
X: 100,126,439 (GRCm39) |
E222G |
probably benign |
Het |
| Sult3a2 |
A |
T |
10: 33,642,435 (GRCm39) |
N289K |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,622,945 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
G |
3: 93,351,385 (GRCm39) |
E275G |
unknown |
Het |
| Tectb |
A |
T |
19: 55,179,943 (GRCm39) |
N263I |
probably damaging |
Het |
| Tsga10 |
C |
T |
1: 37,800,066 (GRCm39) |
R608Q |
possibly damaging |
Het |
| Ttyh3 |
A |
G |
5: 140,615,219 (GRCm39) |
Y390H |
probably damaging |
Het |
| Utf1 |
C |
A |
7: 139,523,929 (GRCm39) |
S48* |
probably null |
Het |
| Zfp358 |
G |
A |
8: 3,546,786 (GRCm39) |
G456D |
probably benign |
Het |
| Zup1 |
A |
G |
10: 33,806,150 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation