Incidental Mutation 'IGL01820:Styxl1'
| ID |
154503 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Styxl1
|
| Ensembl Gene |
ENSMUSG00000019178 |
| Gene Name |
serine/threonine/tyrosine interacting-like 1 |
| Synonyms |
1700011C14Rik, Dusp24 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135776074-135807239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 135794604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 88
(D88N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053906]
[ENSMUST00000111161]
[ENSMUST00000111162]
[ENSMUST00000111163]
[ENSMUST00000111164]
[ENSMUST00000142343]
[ENSMUST00000177559]
[ENSMUST00000178796]
[ENSMUST00000178515]
|
| AlphaFold |
Q9DAR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053906
AA Change: D78N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051216
Gene: ENSMUSG00000019178
AA Change: D78N
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
17 |
148 |
1.31e-3 |
SMART |
|
DSPc
|
167 |
307 |
1.01e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111161
|
| SMART Domains |
Protein: ENSMUSP00000106791
Gene: ENSMUSG00000019178
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
23 |
163 |
1.01e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111162
|
| SMART Domains |
Protein: ENSMUSP00000106792
Gene: ENSMUSG00000019178
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
64 |
203 |
2.5e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111163
AA Change: D78N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106793
Gene: ENSMUSG00000019178
AA Change: D78N
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
17 |
148 |
1.31e-3 |
SMART |
|
DSPc
|
167 |
307 |
1.01e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111164
AA Change: D78N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106794
Gene: ENSMUSG00000019178
AA Change: D78N
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
17 |
148 |
1.31e-3 |
SMART |
|
DSPc
|
167 |
307 |
1.01e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142343
|
| SMART Domains |
Protein: ENSMUSP00000136983
Gene: ENSMUSG00000019178
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RHOD
|
17 |
62 |
8e-19 |
BLAST |
|
SCOP:d1gmxa_
|
23 |
67 |
6e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177559
AA Change: D78N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135982
Gene: ENSMUSG00000019178
AA Change: D78N
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
17 |
148 |
1.31e-3 |
SMART |
|
DSPc
|
167 |
307 |
1.01e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178796
AA Change: D88N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137481
Gene: ENSMUSG00000019178
AA Change: D88N
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
27 |
158 |
1.31e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178515
|
| SMART Domains |
Protein: ENSMUSP00000137191
Gene: ENSMUSG00000019178
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
23 |
163 |
1.01e-17 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,765,896 (GRCm39) |
|
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,886,664 (GRCm39) |
|
probably null |
Het |
| Akna |
G |
T |
4: 63,304,495 (GRCm39) |
T553N |
probably benign |
Het |
| Boc |
A |
G |
16: 44,312,235 (GRCm39) |
I609T |
possibly damaging |
Het |
| Btbd9 |
C |
T |
17: 30,746,383 (GRCm39) |
V148I |
possibly damaging |
Het |
| Cacna1d |
A |
T |
14: 29,764,823 (GRCm39) |
I2049N |
possibly damaging |
Het |
| Cdhr1 |
A |
T |
14: 36,807,536 (GRCm39) |
M368K |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,226,138 (GRCm39) |
Y362C |
probably damaging |
Het |
| Cnppd1 |
G |
T |
1: 75,116,236 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
C |
1: 45,360,768 (GRCm39) |
I66T |
unknown |
Het |
| Col5a2 |
C |
A |
1: 45,481,985 (GRCm39) |
M46I |
unknown |
Het |
| Csmd3 |
G |
T |
15: 47,470,538 (GRCm39) |
C3379* |
probably null |
Het |
| Ctla2b |
T |
A |
13: 61,044,503 (GRCm39) |
*28C |
probably null |
Het |
| Ddhd2 |
C |
T |
8: 26,239,781 (GRCm39) |
E33K |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,092 (GRCm39) |
H387R |
probably damaging |
Het |
| Dyrk1b |
T |
A |
7: 27,881,025 (GRCm39) |
|
probably benign |
Het |
| Fam131c |
T |
C |
4: 141,107,648 (GRCm39) |
C53R |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,463,539 (GRCm39) |
F1360L |
probably damaging |
Het |
| Gm10320 |
G |
T |
13: 98,626,045 (GRCm39) |
S113* |
probably null |
Het |
| Ifih1 |
T |
C |
2: 62,447,657 (GRCm39) |
D349G |
probably damaging |
Het |
| Il12a |
T |
C |
3: 68,599,495 (GRCm39) |
|
probably benign |
Het |
| Ivl |
A |
T |
3: 92,478,940 (GRCm39) |
M375K |
possibly damaging |
Het |
| Krt82 |
C |
A |
15: 101,451,887 (GRCm39) |
|
probably benign |
Het |
| Mc4r |
C |
T |
18: 66,992,226 (GRCm39) |
V296I |
probably benign |
Het |
| Met |
T |
A |
6: 17,534,230 (GRCm39) |
I691N |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,425,937 (GRCm39) |
I2396K |
probably damaging |
Het |
| Napg |
C |
A |
18: 63,119,516 (GRCm39) |
Q135K |
probably benign |
Het |
| Nf2 |
A |
T |
11: 4,739,655 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
G |
T |
17: 90,950,531 (GRCm39) |
H549Q |
probably damaging |
Het |
| P4ha1 |
T |
A |
10: 59,197,736 (GRCm39) |
I321K |
probably damaging |
Het |
| Prl5a1 |
T |
C |
13: 28,332,683 (GRCm39) |
S94P |
probably benign |
Het |
| Prnp |
T |
C |
2: 131,778,990 (GRCm39) |
V214A |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,993,936 (GRCm39) |
F1165I |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,198,483 (GRCm39) |
V207A |
possibly damaging |
Het |
| Rel |
A |
T |
11: 23,703,218 (GRCm39) |
N131K |
probably benign |
Het |
| Rgs14 |
A |
T |
13: 55,531,338 (GRCm39) |
D448V |
probably benign |
Het |
| Spag5 |
T |
G |
11: 78,195,085 (GRCm39) |
S131A |
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,851,376 (GRCm39) |
R507H |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,616,670 (GRCm39) |
E16528K |
possibly damaging |
Het |
| Txlnb |
T |
C |
10: 17,682,606 (GRCm39) |
|
probably null |
Het |
| Unc13a |
A |
G |
8: 72,107,591 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,653 (GRCm39) |
S235P |
possibly damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,839,409 (GRCm39) |
N60Y |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,640,922 (GRCm39) |
L68Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,071,947 (GRCm39) |
V981E |
probably benign |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,613 (GRCm39) |
S316P |
probably damaging |
Het |
| Zfp516 |
C |
T |
18: 83,005,486 (GRCm39) |
R797C |
probably benign |
Het |
| Zp3r |
A |
G |
1: 130,526,657 (GRCm39) |
V182A |
probably benign |
Het |
|
| Other mutations in Styxl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02735:Styxl1
|
APN |
5 |
135,787,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03284:Styxl1
|
APN |
5 |
135,785,949 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1263:Styxl1
|
UTSW |
5 |
135,782,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Styxl1
|
UTSW |
5 |
135,799,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Styxl1
|
UTSW |
5 |
135,785,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2399:Styxl1
|
UTSW |
5 |
135,776,635 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3040:Styxl1
|
UTSW |
5 |
135,785,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3411:Styxl1
|
UTSW |
5 |
135,794,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4085:Styxl1
|
UTSW |
5 |
135,788,019 (GRCm39) |
missense |
unknown |
|
|
R4772:Styxl1
|
UTSW |
5 |
135,797,755 (GRCm39) |
nonsense |
probably null |
|
|
R5667:Styxl1
|
UTSW |
5 |
135,785,977 (GRCm39) |
splice site |
probably null |
|
|
R6376:Styxl1
|
UTSW |
5 |
135,776,664 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6601:Styxl1
|
UTSW |
5 |
135,784,350 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7588:Styxl1
|
UTSW |
5 |
135,799,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7735:Styxl1
|
UTSW |
5 |
135,788,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Styxl1
|
UTSW |
5 |
135,776,634 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9188:Styxl1
|
UTSW |
5 |
135,794,672 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9337:Styxl1
|
UTSW |
5 |
135,794,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9430:Styxl1
|
UTSW |
5 |
135,784,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9536:Styxl1
|
UTSW |
5 |
135,776,634 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9689:Styxl1
|
UTSW |
5 |
135,799,190 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation