Incidental Mutation 'R7398:Styxl2'
| ID |
573946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Styxl2
|
| Ensembl Gene |
ENSMUSG00000026564 |
| Gene Name |
serine/threonine/tyrosine interacting like 2 |
| Synonyms |
C130085G02Rik, Dusp27 |
| MMRRC Submission |
045480-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
165925717-165955467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165928044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 523
(S523P)
|
| 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: S523P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083155
Gene: ENSMUSG00000026564
AA Change: S523P
| 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: S523P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141564
Gene: ENSMUSG00000026564
AA Change: S523P
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
A |
2: 31,680,811 (GRCm39) |
S368T |
probably damaging |
Het |
| Acmsd |
A |
G |
1: 127,657,172 (GRCm39) |
|
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,703,495 (GRCm39) |
S445T |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,759,591 (GRCm39) |
V91A |
probably benign |
Het |
| Ccne1 |
A |
G |
7: 37,805,702 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
T |
1: 45,366,973 (GRCm39) |
I249F |
unknown |
Het |
| Crybg3 |
T |
C |
16: 59,377,688 (GRCm39) |
I1189V |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,964 (GRCm39) |
D389E |
probably benign |
Het |
| D130043K22Rik |
A |
C |
13: 25,077,360 (GRCm39) |
I998L |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,803,056 (GRCm39) |
I298T |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,971,550 (GRCm39) |
E2161G |
probably damaging |
Het |
| Dnajc25 |
T |
C |
4: 59,017,824 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
G |
A |
17: 56,496,405 (GRCm39) |
R768* |
probably null |
Het |
| Dusp6 |
T |
A |
10: 99,100,740 (GRCm39) |
N245K |
probably damaging |
Het |
| Eea1 |
C |
A |
10: 95,831,493 (GRCm39) |
H195N |
probably benign |
Het |
| Efhc1 |
A |
G |
1: 21,059,744 (GRCm39) |
E598G |
probably benign |
Het |
| Epb41l1 |
T |
C |
2: 156,376,682 (GRCm39) |
V809A |
probably damaging |
Het |
| Gas8 |
T |
A |
8: 124,245,690 (GRCm39) |
M1K |
probably null |
Het |
| Gcm1 |
G |
A |
9: 77,971,961 (GRCm39) |
V301I |
probably benign |
Het |
| Gm11554 |
T |
A |
11: 99,695,085 (GRCm39) |
S43C |
unknown |
Het |
| Gm7298 |
A |
G |
6: 121,758,912 (GRCm39) |
I1177V |
probably benign |
Het |
| Gm8011 |
A |
G |
14: 42,285,918 (GRCm39) |
T27A |
|
Het |
| Hmcn1 |
A |
G |
1: 150,522,421 (GRCm39) |
I3493T |
probably benign |
Het |
| Insrr |
T |
G |
3: 87,716,039 (GRCm39) |
I578S |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 64,994,972 (GRCm39) |
D908G |
probably null |
Het |
| Lhcgr |
G |
C |
17: 89,079,474 (GRCm39) |
Q71E |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,697,491 (GRCm39) |
D80G |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,997,595 (GRCm39) |
E156* |
probably null |
Het |
| Lrrc9 |
A |
G |
12: 72,547,590 (GRCm39) |
D1255G |
probably damaging |
Het |
| Mcidas |
A |
G |
13: 113,133,416 (GRCm39) |
N116D |
probably benign |
Het |
| Mmp7 |
A |
G |
9: 7,697,594 (GRCm39) |
N210D |
probably damaging |
Het |
| Morc3 |
A |
G |
16: 93,671,748 (GRCm39) |
D926G |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
| Muc16 |
C |
A |
9: 18,549,038 (GRCm39) |
V5752F |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,612,183 (GRCm39) |
D1276V |
unknown |
Het |
| Nlrc4 |
T |
G |
17: 74,753,537 (GRCm39) |
E282A |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,827,297 (GRCm39) |
Y227* |
probably null |
Het |
| Obox5 |
A |
C |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
| Or10ak13 |
C |
A |
4: 118,638,896 (GRCm39) |
L295F |
possibly damaging |
Het |
| Pygm |
G |
A |
19: 6,435,966 (GRCm39) |
R139H |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,303,099 (GRCm39) |
P789T |
probably damaging |
Het |
| Riok2 |
T |
G |
17: 17,607,501 (GRCm39) |
S350A |
probably benign |
Het |
| Rnf214 |
C |
T |
9: 45,778,845 (GRCm39) |
V445I |
possibly damaging |
Het |
| Skida1 |
C |
T |
2: 18,051,083 (GRCm39) |
V603I |
unknown |
Het |
| Skint6 |
T |
A |
4: 112,755,335 (GRCm39) |
R747S |
probably benign |
Het |
| Slc24a5 |
G |
A |
2: 124,927,694 (GRCm39) |
W331* |
probably null |
Het |
| Slc5a10 |
A |
T |
11: 61,564,405 (GRCm39) |
C525S |
probably benign |
Het |
| Sult2b1 |
T |
C |
7: 45,380,718 (GRCm39) |
Y288C |
probably damaging |
Het |
| Tagln3 |
G |
T |
16: 45,543,440 (GRCm39) |
N67K |
probably damaging |
Het |
| Trav21-dv12 |
A |
T |
14: 54,114,162 (GRCm39) |
H94L |
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,726,094 (GRCm39) |
E230G |
probably damaging |
Het |
| Usb1 |
T |
A |
8: 96,071,931 (GRCm39) |
H210Q |
probably damaging |
Het |
| Vill |
C |
T |
9: 118,899,716 (GRCm39) |
P767L |
probably benign |
Het |
| Vmn2r94 |
A |
T |
17: 18,477,603 (GRCm39) |
N269K |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
|
|
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'- GGTTGACATCAGAGAGGTTCTTCTC -3'
(R):5'- TCCTGAAGCAGCAACTGGAG -3'
Sequencing Primer
(F):5'- AGAGGTTCTTCTCTCCTGCTG -3'
(R):5'- GAAGATACCGCTCTGACTCG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation