Incidental Mutation 'IGL02735:Styxl1'
| ID |
305596 |
| 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 # |
IGL02735
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135776074-135807239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135787996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 165
(I165T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053906]
[ENSMUST00000111161]
[ENSMUST00000111162]
[ENSMUST00000111163]
[ENSMUST00000111164]
[ENSMUST00000142343]
[ENSMUST00000177559]
[ENSMUST00000178515]
[ENSMUST00000178796]
|
| AlphaFold |
Q9DAR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053906
AA Change: I155T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051216
Gene: ENSMUSG00000019178
AA Change: I155T
| 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: ENSMUST00000111161
AA Change: I11T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106791
Gene: ENSMUSG00000019178
AA Change: I11T
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
23 |
163 |
1.01e-17 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111162
AA Change: S100P
|
| SMART Domains |
Protein: ENSMUSP00000106792
Gene: ENSMUSG00000019178
AA Change: S100P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
64 |
203 |
2.5e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111163
AA Change: I155T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106793
Gene: ENSMUSG00000019178
AA Change: I155T
| 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: I155T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106794
Gene: ENSMUSG00000019178
AA Change: I155T
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
17 |
148 |
1.31e-3 |
SMART |
|
DSPc
|
167 |
307 |
1.01e-17 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142343
AA Change: S100P
|
| SMART Domains |
Protein: ENSMUSP00000136983
Gene: ENSMUSG00000019178
AA Change: S100P
| 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: I155T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135982
Gene: ENSMUSG00000019178
AA Change: I155T
| 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: ENSMUST00000178515
AA Change: I11T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137191
Gene: ENSMUSG00000019178
AA Change: I11T
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
23 |
163 |
1.01e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178796
AA Change: I165T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137481
Gene: ENSMUSG00000019178
AA Change: I165T
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
27 |
158 |
1.31e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| Acss1 |
A |
T |
2: 150,480,387 (GRCm39) |
V228E |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 102,992,693 (GRCm39) |
M145K |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,781,599 (GRCm39) |
S2217N |
probably benign |
Het |
| Asph |
T |
A |
4: 9,598,759 (GRCm39) |
D211V |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,316,413 (GRCm39) |
W379R |
probably damaging |
Het |
| Derl3 |
A |
G |
10: 75,730,950 (GRCm39) |
T201A |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,783,898 (GRCm39) |
L1008P |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,853,522 (GRCm39) |
I363V |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,961,804 (GRCm39) |
F1058L |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,522,583 (GRCm39) |
M3439K |
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,253,009 (GRCm39) |
|
probably benign |
Het |
| Itgad |
A |
G |
7: 127,792,888 (GRCm39) |
Y832C |
probably damaging |
Het |
| Itgb2 |
T |
A |
10: 77,385,833 (GRCm39) |
D265E |
possibly damaging |
Het |
| Kif19a |
A |
T |
11: 114,676,393 (GRCm39) |
E449V |
probably damaging |
Het |
| Krt40 |
T |
C |
11: 99,429,461 (GRCm39) |
E291G |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 26,980,124 (GRCm39) |
N1897S |
probably damaging |
Het |
| Lepr |
A |
G |
4: 101,639,835 (GRCm39) |
Y767C |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 80,786,031 (GRCm39) |
H546R |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,486,266 (GRCm39) |
S362P |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,001,067 (GRCm39) |
Y734C |
probably damaging |
Het |
| Mrps18a |
C |
T |
17: 46,433,725 (GRCm39) |
R74C |
probably damaging |
Het |
| Mvk |
A |
G |
5: 114,588,880 (GRCm39) |
E174G |
probably benign |
Het |
| Naip2 |
A |
G |
13: 100,296,722 (GRCm39) |
S1105P |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,221,624 (GRCm39) |
M468V |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,984,175 (GRCm39) |
E1760G |
probably damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,652,832 (GRCm39) |
G285W |
probably damaging |
Het |
| Pgpep1l |
A |
G |
7: 67,886,721 (GRCm39) |
I196T |
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,987,611 (GRCm39) |
M630T |
probably benign |
Het |
| Plod2 |
T |
C |
9: 92,477,442 (GRCm39) |
|
probably benign |
Het |
| Poldip2 |
G |
A |
11: 78,403,162 (GRCm39) |
A9T |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,703,396 (GRCm39) |
S718P |
probably damaging |
Het |
| Pramel34 |
G |
A |
5: 93,786,503 (GRCm39) |
P89S |
possibly damaging |
Het |
| Ptpre |
A |
T |
7: 135,269,296 (GRCm39) |
Y246F |
probably damaging |
Het |
| Pudp |
T |
C |
18: 50,701,403 (GRCm39) |
H110R |
probably benign |
Het |
| Scaf4 |
C |
T |
16: 90,042,403 (GRCm39) |
G646E |
unknown |
Het |
| Sec16a |
T |
A |
2: 26,318,149 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,070,116 (GRCm39) |
T338A |
probably benign |
Het |
| Shisa5 |
T |
G |
9: 108,885,080 (GRCm39) |
F118V |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,936,061 (GRCm39) |
|
probably benign |
Het |
| Sprtn |
T |
A |
8: 125,630,126 (GRCm39) |
V473E |
probably benign |
Het |
| Tal2 |
T |
A |
4: 53,785,906 (GRCm39) |
I29N |
probably damaging |
Het |
| Tas2r134 |
T |
C |
2: 51,517,839 (GRCm39) |
I106T |
probably damaging |
Het |
| Tmem259 |
G |
A |
10: 79,814,973 (GRCm39) |
T217I |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,655,339 (GRCm39) |
I723T |
probably damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,036,418 (GRCm39) |
V83D |
probably damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,032,510 (GRCm39) |
M761I |
probably benign |
Het |
| Ybey |
A |
T |
10: 76,304,160 (GRCm39) |
I14N |
probably damaging |
Het |
|
| Other mutations in Styxl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01820:Styxl1
|
APN |
5 |
135,794,604 (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 |
2015-04-16 |
Incidental Mutation