Incidental Mutation 'R9493:Styxl2'
| ID |
717039 |
| 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 # |
R9493 (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 A
at 165926410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1067
(K1067N)
|
| 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: K1067N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083155
Gene: ENSMUSG00000026564
AA Change: K1067N
| 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: K1067N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141564
Gene: ENSMUSG00000026564
AA Change: K1067N
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,191 (GRCm39) |
Y799H |
probably damaging |
Het |
| Akap5 |
G |
A |
12: 76,375,041 (GRCm39) |
A158T |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,286,434 (GRCm39) |
K689E |
probably benign |
Het |
| Arid1b |
G |
A |
17: 5,046,423 (GRCm39) |
A404T |
unknown |
Het |
| Bltp1 |
A |
G |
3: 37,065,885 (GRCm39) |
N53S |
|
Het |
| Camk2b |
T |
A |
11: 5,929,711 (GRCm39) |
D396V |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,674,683 (GRCm39) |
D128V |
probably null |
Het |
| Cdk15 |
G |
T |
1: 59,326,943 (GRCm39) |
R208L |
probably damaging |
Het |
| Celsr1 |
T |
G |
15: 85,785,346 (GRCm39) |
K2963Q |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,301,074 (GRCm39) |
S2740P |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,632,964 (GRCm39) |
L162H |
probably damaging |
Het |
| Cntn1 |
A |
T |
15: 92,189,644 (GRCm39) |
T656S |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Dpy19l2 |
A |
G |
9: 24,530,459 (GRCm39) |
Y507H |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,122,752 (GRCm39) |
C57* |
probably null |
Het |
| Gramd1b |
A |
G |
9: 40,217,689 (GRCm39) |
Y621H |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,556,522 (GRCm39) |
C739S |
probably benign |
Het |
| Il1rap |
T |
C |
16: 26,541,702 (GRCm39) |
S648P |
probably benign |
Het |
| Ints5 |
C |
T |
19: 8,872,686 (GRCm39) |
T215I |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,834,255 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
T |
A |
14: 102,137,907 (GRCm39) |
S870T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,548 (GRCm39) |
F1288I |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,547,376 (GRCm39) |
H209L |
probably damaging |
Het |
| Mtss1 |
C |
T |
15: 58,926,869 (GRCm39) |
R69H |
probably damaging |
Het |
| Nms |
A |
T |
1: 38,980,982 (GRCm39) |
H56L |
probably benign |
Het |
| Or4f54 |
G |
A |
2: 111,122,736 (GRCm39) |
G41D |
probably damaging |
Het |
| Or4k36 |
C |
T |
2: 111,146,288 (GRCm39) |
H155Y |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,497 (GRCm39) |
M7K |
possibly damaging |
Het |
| Or5t17 |
T |
C |
2: 86,833,140 (GRCm39) |
S276P |
probably benign |
Het |
| Pds5a |
G |
A |
5: 65,792,747 (GRCm39) |
R729W |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,639,598 (GRCm39) |
R93* |
probably null |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,509,021 (GRCm39) |
V653F |
probably damaging |
Het |
| Slc10a2 |
A |
G |
8: 5,139,047 (GRCm39) |
V299A |
|
Het |
| Slc6a15 |
A |
G |
10: 103,229,277 (GRCm39) |
I105M |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,833,395 (GRCm39) |
V209A |
|
Het |
| Snapc2 |
A |
G |
8: 4,304,591 (GRCm39) |
E115G |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,199,529 (GRCm39) |
E592G |
possibly damaging |
Het |
| Spmip6 |
G |
A |
4: 41,508,614 (GRCm39) |
P17L |
|
Het |
| Tcl1b1 |
A |
T |
12: 105,130,823 (GRCm39) |
Q102L |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,801,644 (GRCm39) |
N461Y |
probably benign |
Het |
| Trim59 |
C |
A |
3: 68,945,134 (GRCm39) |
G69C |
probably damaging |
Het |
| Tubg1 |
A |
G |
11: 101,017,003 (GRCm39) |
Y435C |
probably damaging |
Het |
| Ucp3 |
A |
C |
7: 100,131,911 (GRCm39) |
H254P |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,157,276 (GRCm39) |
D842G |
probably damaging |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,423 (GRCm39) |
L68H |
probably damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,057 (GRCm39) |
E49G |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,180,706 (GRCm39) |
|
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 |
|
|
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 |
|
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'- TTCTCCAGGCGGCAATGATG -3'
(R):5'- GAAACACCTCACGGTTCTCATC -3'
Sequencing Primer
(F):5'- GATGGCTTCATCATCCATTTCTTC -3'
(R):5'- AGATGCACAAGTTCTCTCGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation