Incidental Mutation 'R6586:Styxl2'
| ID |
524373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Styxl2
|
| Ensembl Gene |
ENSMUSG00000026564 |
| Gene Name |
serine/threonine/tyrosine interacting like 2 |
| Synonyms |
C130085G02Rik, Dusp27 |
| MMRRC Submission |
044710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
165925717-165955467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165928454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 386
(E386G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085992]
[ENSMUST00000192369]
|
| AlphaFold |
Q148W8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085992
AA Change: E386G
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083155
Gene: ENSMUSG00000026564
AA Change: E386G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
DSPc
|
133 |
277 |
2.45e-30 |
SMART |
|
low complexity region
|
339 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
635 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
666 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
788 |
N/A |
INTRINSIC |
|
coiled coil region
|
813 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
851 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
1001 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1091 |
N/A |
INTRINSIC |
|
low complexity region
|
1108 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192369
AA Change: E386G
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141564
Gene: ENSMUSG00000026564
AA Change: E386G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
DSPc
|
133 |
277 |
2.45e-30 |
SMART |
|
low complexity region
|
339 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
635 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
666 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
788 |
N/A |
INTRINSIC |
|
coiled coil region
|
813 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
851 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
1001 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1091 |
N/A |
INTRINSIC |
|
low complexity region
|
1108 |
1120 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
| 9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
| Acaa1a |
A |
G |
9: 119,178,604 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
| Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,716,560 (GRCm39) |
C343* |
probably null |
Het |
| Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
| Mterf2 |
A |
G |
10: 84,955,970 (GRCm39) |
F218S |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
| Nrip2 |
T |
A |
6: 128,381,911 (GRCm39) |
C85* |
probably null |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
| Palm |
A |
C |
10: 79,645,365 (GRCm39) |
N111H |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,164,469 (GRCm39) |
Y81C |
probably damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
| Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
| Trim60 |
G |
T |
8: 65,453,248 (GRCm39) |
L334I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
| Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,911 (GRCm39) |
M83K |
probably benign |
Het |
|
| Other mutations in Styxl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00706:Styxl2
|
APN |
1 |
165,928,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00973:Styxl2
|
APN |
1 |
165,927,027 (GRCm39) |
missense |
probably benign |
|
|
IGL01331:Styxl2
|
APN |
1 |
165,935,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01466:Styxl2
|
APN |
1 |
165,928,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01572:Styxl2
|
APN |
1 |
165,927,941 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01906:Styxl2
|
APN |
1 |
165,927,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01974:Styxl2
|
APN |
1 |
165,928,105 (GRCm39) |
nonsense |
probably null |
|
|
IGL02112:Styxl2
|
APN |
1 |
165,927,240 (GRCm39) |
nonsense |
probably null |
|
|
IGL02805:Styxl2
|
APN |
1 |
165,926,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Styxl2
|
APN |
1 |
165,927,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0116:Styxl2
|
UTSW |
1 |
165,927,270 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0367:Styxl2
|
UTSW |
1 |
165,928,332 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0499:Styxl2
|
UTSW |
1 |
165,926,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0542:Styxl2
|
UTSW |
1 |
165,928,853 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1312:Styxl2
|
UTSW |
1 |
165,926,860 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1572:Styxl2
|
UTSW |
1 |
165,927,024 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1598:Styxl2
|
UTSW |
1 |
165,937,828 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1858:Styxl2
|
UTSW |
1 |
165,928,415 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2021:Styxl2
|
UTSW |
1 |
165,928,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2970:Styxl2
|
UTSW |
1 |
165,926,798 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3727:Styxl2
|
UTSW |
1 |
165,927,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4041:Styxl2
|
UTSW |
1 |
165,927,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4245:Styxl2
|
UTSW |
1 |
165,928,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4955:Styxl2
|
UTSW |
1 |
165,935,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Styxl2
|
UTSW |
1 |
165,954,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Styxl2
|
UTSW |
1 |
165,927,914 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5342:Styxl2
|
UTSW |
1 |
165,937,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5467:Styxl2
|
UTSW |
1 |
165,939,599 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5742:Styxl2
|
UTSW |
1 |
165,927,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6222:Styxl2
|
UTSW |
1 |
165,926,214 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6239:Styxl2
|
UTSW |
1 |
165,926,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6531:Styxl2
|
UTSW |
1 |
165,937,615 (GRCm39) |
splice site |
probably null |
|
|
R6958:Styxl2
|
UTSW |
1 |
165,935,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7006:Styxl2
|
UTSW |
1 |
165,926,663 (GRCm39) |
missense |
probably benign |
|
|
R7111:Styxl2
|
UTSW |
1 |
165,954,723 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7310:Styxl2
|
UTSW |
1 |
165,926,300 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7312:Styxl2
|
UTSW |
1 |
165,954,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7378:Styxl2
|
UTSW |
1 |
165,939,632 (GRCm39) |
nonsense |
probably null |
|
|
R7398:Styxl2
|
UTSW |
1 |
165,928,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Styxl2
|
UTSW |
1 |
165,928,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7569:Styxl2
|
UTSW |
1 |
165,935,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Styxl2
|
UTSW |
1 |
165,927,465 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7954:Styxl2
|
UTSW |
1 |
165,926,849 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7972:Styxl2
|
UTSW |
1 |
165,926,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8186:Styxl2
|
UTSW |
1 |
165,927,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Styxl2
|
UTSW |
1 |
165,935,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Styxl2
|
UTSW |
1 |
165,935,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Styxl2
|
UTSW |
1 |
165,928,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9419:Styxl2
|
UTSW |
1 |
165,927,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9493:Styxl2
|
UTSW |
1 |
165,926,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Styxl2
|
UTSW |
1 |
165,928,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Styxl2
|
UTSW |
1 |
165,926,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCAGGATCCGGATGTCATG -3'
(R):5'- ATGATGCCACTAGCCACCTG -3'
Sequencing Primer
(F):5'- TGGCTGCTCACACTCTCAGAAG -3'
(R):5'- CTGAGTGGCTCCTCCTTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation