Incidental Mutation 'R9419:Styxl2'
| ID |
712204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Styxl2
|
| Ensembl Gene |
ENSMUSG00000026564 |
| Gene Name |
serine/threonine/tyrosine interacting like 2 |
| Synonyms |
C130085G02Rik, Dusp27 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9419 (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 165927755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 619
(Q619R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085992]
[ENSMUST00000192369]
|
| AlphaFold |
Q148W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085992
AA Change: Q619R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083155
Gene: ENSMUSG00000026564
AA Change: Q619R
| 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 |
probably damaging
Transcript: ENSMUST00000192369
AA Change: Q619R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141564
Gene: ENSMUSG00000026564
AA Change: Q619R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,685 (GRCm39) |
T30A |
unknown |
Het |
| Abca12 |
A |
G |
1: 71,342,649 (GRCm39) |
Y944H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,656,887 (GRCm39) |
N2869S |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,574,825 (GRCm39) |
Q140K |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,384,923 (GRCm39) |
M189K |
probably benign |
Het |
| Atp2b1 |
G |
T |
10: 98,837,178 (GRCm39) |
R539L |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,845,304 (GRCm39) |
S152P |
|
Het |
| Catsperd |
A |
T |
17: 56,958,821 (GRCm39) |
I276L |
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,967,861 (GRCm39) |
V460A |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,096,935 (GRCm39) |
I1388V |
probably benign |
Het |
| Cd40 |
A |
T |
2: 164,904,162 (GRCm39) |
|
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,724,302 (GRCm39) |
T307S |
unknown |
Het |
| Chfr |
C |
T |
5: 110,317,056 (GRCm39) |
T643I |
probably damaging |
Het |
| Cnbd1 |
T |
C |
4: 19,098,156 (GRCm39) |
Q88R |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ghdc |
G |
T |
11: 100,661,081 (GRCm39) |
A28D |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,540 (GRCm39) |
H693R |
possibly damaging |
Het |
| H2-M1 |
G |
T |
17: 36,981,231 (GRCm39) |
A268E |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,528,935 (GRCm39) |
N557D |
probably benign |
Het |
| Ighg2c |
A |
G |
12: 113,251,015 (GRCm39) |
|
probably benign |
Het |
| Il17ra |
C |
A |
6: 120,458,255 (GRCm39) |
Q469K |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,686,064 (GRCm39) |
N809Y |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,435 (GRCm39) |
Q73L |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,356,959 (GRCm39) |
V3A |
unknown |
Het |
| Map3k9 |
T |
C |
12: 81,827,341 (GRCm39) |
Y103C |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,029 (GRCm39) |
S298P |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,243,451 (GRCm39) |
N1254K |
probably damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,883,952 (GRCm39) |
M1L |
probably benign |
Het |
| Nfxl1 |
G |
A |
5: 72,716,641 (GRCm39) |
|
probably benign |
Het |
| Nmd3 |
T |
C |
3: 69,643,349 (GRCm39) |
I227T |
probably benign |
Het |
| Or8c10 |
T |
G |
9: 38,279,162 (GRCm39) |
C97G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptchd3 |
G |
A |
11: 121,732,356 (GRCm39) |
M415I |
possibly damaging |
Het |
| Rab28 |
A |
T |
5: 41,793,182 (GRCm39) |
S154R |
possibly damaging |
Het |
| Rin1 |
A |
G |
19: 5,103,735 (GRCm39) |
E567G |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,811,436 (GRCm39) |
V806G |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,679,901 (GRCm39) |
L326Q |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,149,315 (GRCm39) |
T296A |
probably damaging |
Het |
| Skint10 |
G |
A |
4: 112,572,981 (GRCm39) |
L272F |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,811,967 (GRCm39) |
Q815R |
probably benign |
Het |
| Stat3 |
A |
G |
11: 100,780,357 (GRCm39) |
M735T |
possibly damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,738 (GRCm39) |
I576T |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,155,071 (GRCm39) |
K5623E |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,387,036 (GRCm39) |
V165A |
possibly damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,573,716 (GRCm39) |
D165E |
probably benign |
Het |
| Tex2 |
G |
A |
11: 106,457,835 (GRCm39) |
Q532* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,564,125 (GRCm39) |
E1245G |
probably damaging |
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 |
|
|
R6586:Styxl2
|
UTSW |
1 |
165,928,454 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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'- ACTTGCATGAGAACGGTGGC -3'
(R):5'- TTCACAAGAAAGACTCGGAGGC -3'
Sequencing Primer
(F):5'- CATGAGAACGGTGGCTCTGG -3'
(R):5'- ACTCGGAGGCGGGAGAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation