Incidental Mutation 'R4602:Stox2'
ID |
345718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stox2
|
Ensembl Gene |
ENSMUSG00000038143 |
Gene Name |
storkhead box 2 |
Synonyms |
4933409N07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R4602 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47645970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 497
(S497P)
|
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: S497P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000078190 Gene: ENSMUSG00000038143 AA Change: S497P
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 damaging
Transcript: ENSMUST00000110367
AA Change: S435P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105996 Gene: ENSMUSG00000038143 AA Change: S435P
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 damaging
Transcript: ENSMUST00000210030
AA Change: S435P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210153
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211737
AA Change: S497P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211882
AA Change: S561P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.0777 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,988,189 (GRCm39) |
K3158E |
possibly damaging |
Het |
Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
Ankmy1 |
A |
T |
1: 92,816,372 (GRCm39) |
N247K |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,494,259 (GRCm39) |
V447A |
probably benign |
Het |
Atp1a4 |
A |
C |
1: 172,067,332 (GRCm39) |
M600R |
probably damaging |
Het |
Baat |
A |
G |
4: 49,502,727 (GRCm39) |
Y132H |
probably damaging |
Het |
Ceacam15 |
A |
G |
7: 16,405,906 (GRCm39) |
V215A |
probably damaging |
Het |
Celf2 |
G |
T |
2: 6,590,831 (GRCm39) |
N279K |
possibly damaging |
Het |
Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
Clec14a |
C |
T |
12: 58,314,767 (GRCm39) |
R285H |
probably benign |
Het |
Ctnna1 |
T |
G |
18: 35,312,880 (GRCm39) |
I244R |
possibly damaging |
Het |
Dcxr |
T |
A |
11: 120,617,130 (GRCm39) |
N105Y |
possibly damaging |
Het |
Dnajc6 |
T |
C |
4: 101,468,461 (GRCm39) |
F166L |
probably damaging |
Het |
Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,584,625 (GRCm39) |
D67G |
probably benign |
Het |
Fancm |
G |
A |
12: 65,171,718 (GRCm39) |
R1786H |
probably benign |
Het |
Fnbp1 |
A |
G |
2: 30,926,552 (GRCm39) |
|
probably null |
Het |
Frem2 |
A |
G |
3: 53,455,228 (GRCm39) |
L2116S |
possibly damaging |
Het |
Gbp5 |
A |
G |
3: 142,209,546 (GRCm39) |
E164G |
probably benign |
Het |
Gm4922 |
A |
T |
10: 18,660,007 (GRCm39) |
Y238* |
probably null |
Het |
Gm8257 |
A |
G |
14: 44,893,774 (GRCm39) |
Y62H |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,755,739 (GRCm39) |
F525S |
probably damaging |
Het |
Hjv |
T |
G |
3: 96,434,869 (GRCm39) |
S203A |
probably benign |
Het |
Hsd17b3 |
C |
A |
13: 64,210,984 (GRCm39) |
|
probably null |
Het |
Ighv1-23 |
T |
A |
12: 114,728,179 (GRCm39) |
Q81L |
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,696,164 (GRCm39) |
V366A |
probably damaging |
Het |
Jak1 |
G |
T |
4: 101,036,791 (GRCm39) |
A283D |
possibly damaging |
Het |
Kmt2d |
G |
T |
15: 98,748,140 (GRCm39) |
|
probably benign |
Het |
Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
Mettl17 |
T |
C |
14: 52,126,246 (GRCm39) |
V218A |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nfat5 |
C |
T |
8: 108,093,855 (GRCm39) |
Q699* |
probably null |
Het |
Or4s2b |
G |
A |
2: 88,508,240 (GRCm39) |
V14I |
probably benign |
Het |
Or4s2b |
T |
G |
2: 88,508,523 (GRCm39) |
V101G |
probably benign |
Het |
Or7e174 |
C |
A |
9: 20,012,540 (GRCm39) |
H162N |
probably benign |
Het |
Osbpl7 |
C |
A |
11: 96,947,095 (GRCm39) |
S265R |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,430,046 (GRCm39) |
T1258A |
probably damaging |
Het |
Pcdh20 |
A |
T |
14: 88,705,866 (GRCm39) |
L478Q |
probably damaging |
Het |
Pde11a |
A |
G |
2: 75,988,677 (GRCm39) |
V488A |
probably benign |
Het |
Phactr1 |
A |
T |
13: 43,248,441 (GRCm39) |
E463D |
probably benign |
Het |
Phaf1 |
C |
A |
8: 105,973,520 (GRCm39) |
N282K |
possibly damaging |
Het |
Samd9l |
A |
T |
6: 3,373,935 (GRCm39) |
Y1109N |
probably damaging |
Het |
Samd9l |
GAA |
GAAA |
6: 3,373,937 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
Sgk2 |
G |
A |
2: 162,836,674 (GRCm39) |
|
probably null |
Het |
Slco1a6 |
C |
A |
6: 142,047,378 (GRCm39) |
C404F |
probably benign |
Het |
Spaca6 |
C |
T |
17: 18,051,387 (GRCm39) |
A21V |
probably damaging |
Het |
Sphkap |
G |
T |
1: 83,256,782 (GRCm39) |
Y322* |
probably null |
Het |
Sptlc3 |
G |
A |
2: 139,478,600 (GRCm39) |
V520I |
probably benign |
Het |
Syt9 |
A |
T |
7: 107,035,594 (GRCm39) |
K204* |
probably null |
Het |
Taf3 |
A |
G |
2: 9,957,468 (GRCm39) |
V233A |
probably damaging |
Het |
Tbccd1 |
T |
C |
16: 22,637,285 (GRCm39) |
|
probably null |
Het |
Tdrd5 |
T |
A |
1: 156,111,944 (GRCm39) |
T479S |
probably benign |
Het |
Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ubac1 |
A |
T |
2: 25,888,989 (GRCm39) |
I402N |
probably damaging |
Het |
Zmat1 |
A |
T |
X: 133,873,694 (GRCm39) |
S566T |
probably damaging |
Homo |
|
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 |
|
R1923:Stox2
|
UTSW |
8 |
47,646,661 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AGAAGGTTCCTTGCTGCCAC -3'
(R):5'- TTCCCCATGACGCCAGAATG -3'
Sequencing Primer
(F):5'- GCCACCAACTATTTCTGGAATG -3'
(R):5'- CGCCAGAATGGGATGTGTC -3'
|
Posted On |
2015-09-25 |