Incidental Mutation 'R7006:Styxl2'
| ID |
544697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Styxl2
|
| Ensembl Gene |
ENSMUSG00000026564 |
| Gene Name |
serine/threonine/tyrosine interacting like 2 |
| Synonyms |
C130085G02Rik, Dusp27 |
| MMRRC Submission |
045011-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
165925717-165955467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165926663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 983
(N983S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085992]
[ENSMUST00000192369]
|
| AlphaFold |
Q148W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085992
AA Change: N983S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083155
Gene: ENSMUSG00000026564
AA Change: N983S
| 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 benign
Transcript: ENSMUST00000192369
AA Change: N983S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141564
Gene: ENSMUSG00000026564
AA Change: N983S
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
G |
4: 144,447,853 (GRCm39) |
V41A |
probably benign |
Het |
| Adcy2 |
G |
A |
13: 69,036,139 (GRCm39) |
T174M |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,631,290 (GRCm39) |
I412N |
probably benign |
Het |
| AW146154 |
T |
C |
7: 41,130,648 (GRCm39) |
E156G |
possibly damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,005,700 (GRCm39) |
L267P |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,989,895 (GRCm39) |
E276G |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,102 (GRCm39) |
T459A |
probably benign |
Het |
| Ccdc196 |
T |
A |
12: 78,255,702 (GRCm39) |
*177R |
probably null |
Het |
| Cep72 |
G |
A |
13: 74,198,427 (GRCm39) |
Q311* |
probably null |
Het |
| Cir1 |
T |
C |
2: 73,140,834 (GRCm39) |
Q45R |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,261,127 (GRCm39) |
|
probably null |
Het |
| Crtap |
G |
T |
9: 114,215,391 (GRCm39) |
A166E |
probably damaging |
Het |
| Dipk1a |
A |
G |
5: 108,058,027 (GRCm39) |
V132A |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,360,188 (GRCm39) |
D288G |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
C |
A |
2: 52,998,266 (GRCm39) |
Q544K |
probably benign |
Het |
| Gpsm1 |
T |
C |
2: 26,212,572 (GRCm39) |
L72P |
probably damaging |
Het |
| Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
| Kcnq3 |
A |
C |
15: 65,892,165 (GRCm39) |
Y403* |
probably null |
Het |
| Kcp |
A |
C |
6: 29,499,169 (GRCm39) |
Y298D |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,625,526 (GRCm39) |
S599P |
probably damaging |
Het |
| Krt20 |
A |
T |
11: 99,328,587 (GRCm39) |
Y113N |
probably benign |
Het |
| Mcm8 |
T |
G |
2: 132,665,181 (GRCm39) |
V191G |
probably damaging |
Het |
| Msr1 |
T |
A |
8: 40,042,423 (GRCm39) |
D384V |
probably damaging |
Het |
| Mtpap |
A |
C |
18: 4,380,873 (GRCm39) |
S184R |
possibly damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,167,731 (GRCm39) |
T1020M |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,573,259 (GRCm39) |
T66A |
probably benign |
Het |
| Or1o3 |
T |
A |
17: 37,573,625 (GRCm39) |
*310L |
probably null |
Het |
| Or4f14 |
C |
A |
2: 111,742,601 (GRCm39) |
V225L |
probably benign |
Het |
| Or8h10 |
G |
A |
2: 86,808,303 (GRCm39) |
T279I |
probably damaging |
Het |
| Or8k18 |
T |
A |
2: 86,085,572 (GRCm39) |
Q155L |
probably benign |
Het |
| Phf11d |
G |
T |
14: 59,590,823 (GRCm39) |
T178K |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,227,977 (GRCm39) |
K298E |
possibly damaging |
Het |
| Rab2b |
A |
T |
14: 52,503,690 (GRCm39) |
I144K |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,167,523 (GRCm39) |
D5G |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,626,188 (GRCm39) |
V515A |
probably damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,947,361 (GRCm39) |
V108A |
possibly damaging |
Het |
| Tifab |
T |
C |
13: 56,324,059 (GRCm39) |
Y128C |
probably benign |
Het |
| Tmc6 |
G |
T |
11: 117,665,083 (GRCm39) |
R397S |
probably damaging |
Het |
| Tnpo3 |
C |
T |
6: 29,589,162 (GRCm39) |
A63T |
probably damaging |
Het |
| Trgc4 |
T |
A |
13: 19,528,995 (GRCm39) |
|
probably benign |
Het |
| Usp16 |
G |
T |
16: 87,268,724 (GRCm39) |
C284F |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,267,441 (GRCm39) |
D319G |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,326,649 (GRCm39) |
W347R |
probably damaging |
Het |
| Zfp180 |
G |
T |
7: 23,804,537 (GRCm39) |
E319* |
probably null |
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 |
|
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'- CCCAAACTCAGCGAAGTCTG -3'
(R):5'- TTAATACGTGGCTCAGTGGC -3'
Sequencing Primer
(F):5'- CCAAACTCAGCGAAGTCTGATTTAG -3'
(R):5'- CTCAGTGGCCTCAGGATGGAAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation