Incidental Mutation 'R5261:Stox1'
ID |
401449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stox1
|
Ensembl Gene |
ENSMUSG00000036923 |
Gene Name |
storkhead box 1 |
Synonyms |
4732470K04Rik |
MMRRC Submission |
042830-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.222)
|
Stock # |
R5261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62494822-62561907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62503620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 145
(H145L)
|
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 damaging
Transcript: ENSMUST00000133371
AA Change: H145L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114652 Gene: ENSMUSG00000036923 AA Change: H145L
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 |
possibly damaging
Transcript: ENSMUST00000148720
AA Change: H56L
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000116180 Gene: ENSMUSG00000036923 AA Change: H56L
Domain | Start | End | E-Value | Type |
Pfam:Stork_head
|
19 |
98 |
9e-40 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218980
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
96% (64/67) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
C |
G |
2: 152,282,777 (GRCm39) |
P211A |
probably damaging |
Het |
Ambra1 |
G |
A |
2: 91,715,951 (GRCm39) |
V761M |
probably damaging |
Het |
Amfr |
T |
A |
8: 94,702,798 (GRCm39) |
|
probably null |
Het |
Asphd1 |
C |
A |
7: 126,545,287 (GRCm39) |
A357S |
probably benign |
Het |
Brd3 |
C |
A |
2: 27,353,931 (GRCm39) |
Q60H |
probably damaging |
Het |
Cd96 |
T |
A |
16: 45,890,016 (GRCm39) |
M336L |
probably benign |
Het |
Cep152 |
T |
A |
2: 125,406,125 (GRCm39) |
H1469L |
probably benign |
Het |
Coro1a |
G |
T |
7: 126,299,816 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,171,555 (GRCm39) |
L871Q |
probably benign |
Het |
Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
Enpep |
T |
G |
3: 129,099,075 (GRCm39) |
D467A |
probably damaging |
Het |
Extl2 |
G |
A |
3: 115,821,013 (GRCm39) |
A273T |
probably benign |
Het |
Foxi3 |
T |
A |
6: 70,937,500 (GRCm39) |
F218Y |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,194,166 (GRCm39) |
M521V |
probably benign |
Het |
Gpr142 |
T |
A |
11: 114,695,168 (GRCm39) |
N44K |
probably damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,061 (GRCm39) |
I440V |
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,642,028 (GRCm39) |
K698I |
probably damaging |
Het |
Hspa1b |
T |
C |
17: 35,177,983 (GRCm39) |
M1V |
probably null |
Het |
Ints9 |
T |
A |
14: 65,245,521 (GRCm39) |
Y260N |
probably benign |
Het |
Khdc3 |
T |
G |
9: 73,010,768 (GRCm39) |
V182G |
possibly damaging |
Het |
Ky |
A |
G |
9: 102,414,798 (GRCm39) |
|
probably null |
Het |
Map2k1 |
T |
A |
9: 64,098,843 (GRCm39) |
I263F |
probably damaging |
Het |
Or13a18 |
A |
C |
7: 140,190,576 (GRCm39) |
I166L |
probably benign |
Het |
Or2t47 |
T |
C |
11: 58,442,877 (GRCm39) |
S63G |
probably benign |
Het |
Or5ak25 |
A |
G |
2: 85,269,241 (GRCm39) |
V87A |
probably benign |
Het |
Otogl |
T |
A |
10: 107,613,453 (GRCm39) |
H2004L |
probably benign |
Het |
Palmd |
T |
C |
3: 116,717,009 (GRCm39) |
H496R |
probably benign |
Het |
Papolb |
C |
G |
5: 142,515,409 (GRCm39) |
R78P |
possibly damaging |
Het |
Pcdh10 |
G |
A |
3: 45,336,247 (GRCm39) |
G854R |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,101,976 (GRCm39) |
I1054V |
probably benign |
Het |
Pik3ap1 |
A |
T |
19: 41,364,545 (GRCm39) |
L58Q |
probably damaging |
Het |
Ppp2ca |
A |
G |
11: 51,989,937 (GRCm39) |
K21R |
probably benign |
Het |
Prmt5 |
A |
C |
14: 54,745,373 (GRCm39) |
I598S |
probably damaging |
Het |
Pycr1 |
T |
A |
11: 120,532,050 (GRCm39) |
I239F |
probably damaging |
Het |
R3hdm2 |
C |
T |
10: 127,334,285 (GRCm39) |
R896C |
probably damaging |
Het |
Rev3l |
C |
T |
10: 39,722,725 (GRCm39) |
P699S |
probably damaging |
Het |
Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
Sel1l |
A |
T |
12: 91,791,658 (GRCm39) |
M351K |
possibly damaging |
Het |
Sesn2 |
A |
G |
4: 132,226,617 (GRCm39) |
L159P |
probably damaging |
Het |
Slc35f4 |
T |
A |
14: 49,540,946 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
C |
A |
17: 85,359,403 (GRCm39) |
N409K |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Slco1c1 |
T |
C |
6: 141,492,502 (GRCm39) |
F246S |
probably damaging |
Het |
Socs2 |
T |
G |
10: 95,228,681 (GRCm39) |
I190L |
unknown |
Het |
Srsf1 |
T |
A |
11: 87,938,684 (GRCm39) |
I7N |
possibly damaging |
Het |
Trap1 |
A |
T |
16: 3,874,286 (GRCm39) |
I243N |
probably damaging |
Het |
Trav7-3 |
T |
C |
14: 53,681,207 (GRCm39) |
I83T |
probably benign |
Het |
Trmt9b |
T |
C |
8: 36,979,078 (GRCm39) |
I227T |
probably benign |
Het |
Tuft1 |
A |
T |
3: 94,546,712 (GRCm39) |
I42K |
possibly damaging |
Het |
Umps |
A |
G |
16: 33,787,344 (GRCm39) |
V3A |
probably benign |
Het |
Vim |
A |
C |
2: 13,579,643 (GRCm39) |
E134A |
probably null |
Het |
Vmn1r28 |
C |
A |
6: 58,242,524 (GRCm39) |
H122Q |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Vsig10l |
T |
A |
7: 43,120,274 (GRCm39) |
V760D |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,927,596 (GRCm39) |
D1460G |
probably benign |
Het |
Zfp282 |
A |
G |
6: 47,874,824 (GRCm39) |
D343G |
probably damaging |
Het |
Zfp35 |
A |
G |
18: 24,136,778 (GRCm39) |
H374R |
probably damaging |
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 |
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'- AAAGTGTTGAGGTAGGGCTTTTCTAAC -3'
(R):5'- CCTGAATGGTTGATGCTAAGGC -3'
Sequencing Primer
(F):5'- AGCTTGAGACTGCATACCTG -3'
(R):5'- TGCTAAGGCAAACTCATCACCTACTC -3'
|
Posted On |
2016-07-06 |