Incidental Mutation 'R7312:Styxl2'
| ID |
567642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Styxl2
|
| Ensembl Gene |
ENSMUSG00000026564 |
| Gene Name |
serine/threonine/tyrosine interacting like 2 |
| Synonyms |
C130085G02Rik, Dusp27 |
| MMRRC Submission |
045410-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7312 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
165925717-165955467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 165954676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 25
(V25I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060833]
[ENSMUST00000085992]
[ENSMUST00000166159]
[ENSMUST00000166860]
[ENSMUST00000192369]
|
| AlphaFold |
Q148W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060833
|
| SMART Domains |
Protein: ENSMUSP00000060147
Gene: ENSMUSG00000000544
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
38 |
119 |
1.26e-9 |
SMART |
|
IGc2
|
153 |
218 |
3.03e-12 |
SMART |
|
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085992
AA Change: V25I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083155
Gene: ENSMUSG00000026564
AA Change: V25I
| 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: ENSMUST00000166159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166860
|
| SMART Domains |
Protein: ENSMUSP00000125903
Gene: ENSMUSG00000000544
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
38 |
119 |
1.26e-9 |
SMART |
|
IGc2
|
153 |
218 |
3.03e-12 |
SMART |
|
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192369
AA Change: V25I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141564
Gene: ENSMUSG00000026564
AA Change: V25I
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,969,021 (GRCm39) |
S215P |
probably benign |
Het |
| Ano2 |
C |
T |
6: 126,016,460 (GRCm39) |
Q998* |
probably null |
Het |
| Atg9a |
A |
T |
1: 75,164,736 (GRCm39) |
V76E |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 119,034,172 (GRCm39) |
I118M |
|
Het |
| Cacna1g |
T |
A |
11: 94,323,383 (GRCm39) |
I1274F |
probably damaging |
Het |
| Cd300lg |
C |
T |
11: 101,937,767 (GRCm39) |
A199V |
probably benign |
Het |
| Cfap61 |
C |
T |
2: 145,887,390 (GRCm39) |
R612* |
probably null |
Het |
| Cpeb4 |
A |
T |
11: 31,881,417 (GRCm39) |
Y692F |
probably damaging |
Het |
| Dcun1d1 |
A |
G |
3: 35,951,940 (GRCm39) |
|
probably null |
Het |
| Dennd2d |
T |
A |
3: 106,398,579 (GRCm39) |
M188K |
probably benign |
Het |
| Dmgdh |
A |
G |
13: 93,845,354 (GRCm39) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,330,652 (GRCm39) |
M275K |
probably benign |
Het |
| Erp29 |
G |
T |
5: 121,583,392 (GRCm39) |
A178D |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,308,594 (GRCm39) |
N156S |
possibly damaging |
Het |
| Frrs1 |
C |
T |
3: 116,675,426 (GRCm39) |
T118I |
probably damaging |
Het |
| Frrs1l |
A |
G |
4: 56,968,230 (GRCm39) |
W181R |
probably benign |
Het |
| Gprc5b |
C |
A |
7: 118,583,482 (GRCm39) |
W129L |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,593 (GRCm39) |
H170R |
probably benign |
Het |
| Il12rb2 |
C |
T |
6: 67,333,617 (GRCm39) |
D221N |
probably benign |
Het |
| Lmo1 |
T |
C |
7: 108,742,819 (GRCm39) |
N28S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,006,525 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,400,130 (GRCm39) |
F722I |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,355,772 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
A |
G |
10: 29,073,240 (GRCm39) |
Y844C |
probably damaging |
Het |
| Mtmr11 |
C |
T |
3: 96,071,855 (GRCm39) |
T223M |
possibly damaging |
Het |
| Mup21 |
A |
G |
4: 62,068,468 (GRCm39) |
V66A |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,111,672 (GRCm39) |
A726D |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nudt21 |
A |
T |
8: 94,746,227 (GRCm39) |
V157D |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,639,806 (GRCm39) |
I52T |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,946,442 (GRCm39) |
D4421G |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,886,801 (GRCm39) |
I106M |
probably benign |
Het |
| Or10g9 |
A |
T |
9: 39,912,106 (GRCm39) |
V139E |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,970,403 (GRCm39) |
T274A |
possibly damaging |
Het |
| Or2z9 |
T |
C |
8: 72,853,793 (GRCm39) |
L63P |
probably damaging |
Het |
| Or51f1 |
T |
A |
7: 102,505,706 (GRCm39) |
Y261F |
probably damaging |
Het |
| Or5w20 |
T |
G |
2: 87,726,755 (GRCm39) |
C71G |
possibly damaging |
Het |
| Orai2 |
T |
A |
5: 136,179,437 (GRCm39) |
I199F |
probably damaging |
Het |
| P2rx5 |
C |
A |
11: 73,055,692 (GRCm39) |
L50M |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,416,634 (GRCm39) |
E215G |
possibly damaging |
Het |
| Pds5a |
A |
T |
5: 65,823,570 (GRCm39) |
S74T |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,666,785 (GRCm39) |
S1105G |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,891,888 (GRCm39) |
D189E |
probably benign |
Het |
| Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
| Pnlip |
T |
A |
19: 58,670,134 (GRCm39) |
V458D |
probably damaging |
Het |
| Ppm1l |
G |
A |
3: 69,225,044 (GRCm39) |
V49I |
probably benign |
Het |
| Prl3b1 |
T |
A |
13: 27,426,473 (GRCm39) |
M1K |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,367 (GRCm39) |
C265S |
probably benign |
Het |
| Rnaset2b |
C |
T |
17: 7,265,427 (GRCm39) |
S237F |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,561,672 (GRCm39) |
A56T |
unknown |
Het |
| S1pr2 |
T |
C |
9: 20,879,238 (GRCm39) |
I197V |
probably benign |
Het |
| Smyd4 |
A |
G |
11: 75,281,082 (GRCm39) |
Q185R |
probably benign |
Het |
| Sox5 |
T |
A |
6: 144,100,759 (GRCm39) |
T77S |
probably benign |
Het |
| Sox7 |
A |
G |
14: 64,185,291 (GRCm39) |
Y109C |
probably damaging |
Het |
| Tln1 |
G |
A |
4: 43,545,922 (GRCm39) |
R898C |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,173 (GRCm39) |
E158V |
probably damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,562,875 (GRCm39) |
R614L |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
| Zc3h12d |
A |
T |
10: 7,743,345 (GRCm39) |
M372L |
probably benign |
Het |
| Zfp28 |
G |
T |
7: 6,386,593 (GRCm39) |
|
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,759 (GRCm39) |
H231Q |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,634,867 (GRCm39) |
S459P |
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 |
|
|
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 |
|
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'- AGAAGCCTCTGGTCTTTCCC -3'
(R):5'- CCATTCTCAGTCCACCAAGG -3'
Sequencing Primer
(F):5'- CTGTGTGCTTGTCACCCC -3'
(R):5'- GTGACATTGGTGACACGTCC -3'
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| Posted On |
2019-06-26 |
Incidental Mutation