Incidental Mutation 'R8001:Stox2'
| ID |
616363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stox2
|
| Ensembl Gene |
ENSMUSG00000038143 |
| Gene Name |
storkhead box 2 |
| Synonyms |
4933409N07Rik |
| MMRRC Submission |
046041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R8001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47639512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 894
(P894L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079195]
[ENSMUST00000110367]
[ENSMUST00000211737]
[ENSMUST00000211882]
|
| AlphaFold |
Q499E5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079195
AA Change: P894L
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: P894L
| 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 benign
Transcript: ENSMUST00000110367
|
| SMART Domains |
Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
| 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: ENSMUST00000211737
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211882
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,458,165 (GRCm39) |
Y282C |
probably damaging |
Het |
| Alkbh4 |
A |
G |
5: 136,169,123 (GRCm39) |
R136G |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,938,166 (GRCm39) |
E2* |
probably null |
Het |
| Cse1l |
T |
A |
2: 166,781,833 (GRCm39) |
F659Y |
probably damaging |
Het |
| Ctrc |
A |
T |
4: 141,567,671 (GRCm39) |
L144Q |
probably damaging |
Het |
| Elmo1 |
A |
G |
13: 20,470,902 (GRCm39) |
I265V |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,419,553 (GRCm39) |
S19P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,540,629 (GRCm39) |
C2893* |
probably null |
Het |
| Hnrnpll |
G |
A |
17: 80,346,152 (GRCm39) |
Q370* |
probably null |
Het |
| Itpkb |
T |
C |
1: 180,160,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,682,902 (GRCm39) |
C501S |
probably benign |
Het |
| Mab21l4 |
A |
G |
1: 93,082,321 (GRCm39) |
L266P |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,395,964 (GRCm39) |
R64H |
possibly damaging |
Het |
| Ogfod2 |
T |
G |
5: 124,252,946 (GRCm39) |
C319G |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,241 (GRCm39) |
D71V |
probably damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,472 (GRCm39) |
N186S |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,448,786 (GRCm39) |
I109V |
probably benign |
Het |
| Or9k7 |
A |
G |
10: 130,046,729 (GRCm39) |
V90A |
probably benign |
Het |
| Pabpc6 |
C |
A |
17: 9,888,302 (GRCm39) |
R83L |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,823,687 (GRCm39) |
Q226L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,460,600 (GRCm39) |
I1127F |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,671 (GRCm39) |
Q161L |
possibly damaging |
Het |
| Slc17a7 |
A |
T |
7: 44,818,212 (GRCm39) |
T46S |
probably benign |
Het |
| Smad4 |
A |
G |
18: 73,774,881 (GRCm39) |
S473P |
probably damaging |
Het |
| Snap47 |
T |
A |
11: 59,329,180 (GRCm39) |
T41S |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,657 (GRCm39) |
L100P |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,275,844 (GRCm39) |
N212K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,448,209 (GRCm39) |
N396I |
possibly damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,284,744 (GRCm39) |
M1V |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,218,831 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
T |
C |
4: 80,758,907 (GRCm39) |
V260A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,643,261 (GRCm39) |
Y4208H |
probably damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,956,065 (GRCm39) |
K75* |
probably null |
Het |
| Vmn2r117 |
T |
A |
17: 23,698,381 (GRCm39) |
N64I |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,695,492 (GRCm39) |
|
probably null |
Het |
| Wnt8a |
A |
T |
18: 34,678,569 (GRCm39) |
I128F |
probably damaging |
Het |
| Zc3h7b |
C |
A |
15: 81,663,461 (GRCm39) |
Y484* |
probably null |
Het |
| Zfp619 |
A |
G |
7: 39,184,645 (GRCm39) |
K225R |
probably benign |
Het |
|
| 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 |
|
R4602: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 |
|
|
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'- CCCAACCTGTGCTTGAGATG -3'
(R):5'- GGAAGTCCATTAGCCCCATC -3'
Sequencing Primer
(F):5'- CCAACCTGTGCTTGAGATGTTTGTC -3'
(R):5'- GAAGTCCATTAGCCCCATCACTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation