Incidental Mutation 'R6601:Styxl1'
| ID |
525253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Styxl1
|
| Ensembl Gene |
ENSMUSG00000019178 |
| Gene Name |
serine/threonine/tyrosine interacting-like 1 |
| Synonyms |
1700011C14Rik, Dusp24 |
| MMRRC Submission |
044725-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135776074-135807239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 135784350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Alanine
at position 211
(G211A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053906]
[ENSMUST00000111161]
[ENSMUST00000111162]
[ENSMUST00000111163]
[ENSMUST00000111164]
[ENSMUST00000142343]
[ENSMUST00000177559]
[ENSMUST00000178515]
[ENSMUST00000178796]
|
| AlphaFold |
Q9DAR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053906
AA Change: G211A
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000051216
Gene: ENSMUSG00000019178
AA Change: G211A
| 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
AA Change: G67A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000106791
Gene: ENSMUSG00000019178
AA Change: G67A
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
23 |
163 |
1.01e-17 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111162
AA Change: G107A
|
| SMART Domains |
Protein: ENSMUSP00000106792
Gene: ENSMUSG00000019178
AA Change: G107A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
64 |
203 |
2.5e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111163
AA Change: G211A
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106793
Gene: ENSMUSG00000019178
AA Change: G211A
| 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: ENSMUST00000111164
AA Change: G211A
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106794
Gene: ENSMUSG00000019178
AA Change: G211A
| 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 benign
Transcript: ENSMUST00000177559
AA Change: G211A
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135982
Gene: ENSMUSG00000019178
AA Change: G211A
| 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: ENSMUST00000178515
AA Change: G67A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137191
Gene: ENSMUSG00000019178
AA Change: G67A
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
23 |
163 |
1.01e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178796
|
| SMART Domains |
Protein: ENSMUSP00000137481
Gene: ENSMUSG00000019178
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
27 |
158 |
1.31e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,102,665 (GRCm39) |
L527R |
probably damaging |
Het |
| Ccdc172 |
T |
A |
19: 58,525,723 (GRCm39) |
C194S |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
T |
14: 51,031,121 (GRCm39) |
T64K |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,806,109 (GRCm39) |
E44G |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,543,421 (GRCm39) |
Y317* |
probably null |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,829 (GRCm39) |
F281S |
probably damaging |
Het |
| Ddx28 |
A |
T |
8: 106,737,248 (GRCm39) |
|
probably null |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,721 (GRCm39) |
|
probably null |
Het |
| Eif2s1 |
T |
C |
12: 78,930,126 (GRCm39) |
I258T |
possibly damaging |
Het |
| Elp3 |
T |
C |
14: 65,784,488 (GRCm39) |
*554W |
probably null |
Het |
| Golga1 |
T |
C |
2: 38,910,118 (GRCm39) |
M610V |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,935,906 (GRCm39) |
K156N |
probably benign |
Het |
| Hcls1 |
G |
A |
16: 36,782,748 (GRCm39) |
G428D |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,371,677 (GRCm39) |
D43G |
probably damaging |
Het |
| Klhl3 |
C |
A |
13: 58,242,930 (GRCm39) |
K91N |
probably damaging |
Het |
| L3mbtl1 |
C |
T |
2: 162,790,095 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,810,544 (GRCm39) |
F805L |
possibly damaging |
Het |
| Lipg |
T |
C |
18: 75,081,275 (GRCm39) |
M269V |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,148,720 (GRCm39) |
T1203I |
probably benign |
Het |
| Mat1a |
T |
A |
14: 40,827,561 (GRCm39) |
V5E |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,548,866 (GRCm39) |
L5809Q |
probably benign |
Het |
| Naip6 |
G |
A |
13: 100,420,266 (GRCm39) |
R1335C |
probably benign |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,416 (GRCm39) |
H128R |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,587,464 (GRCm39) |
|
probably null |
Het |
| Or8u8 |
T |
A |
2: 86,012,309 (GRCm39) |
I49F |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,230,673 (GRCm39) |
V148A |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,747 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
G |
19: 17,488,744 (GRCm39) |
R1025S |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
| Polr1d |
T |
A |
5: 147,015,359 (GRCm39) |
L14* |
probably null |
Het |
| Rab26 |
T |
A |
17: 24,748,595 (GRCm39) |
K270* |
probably null |
Het |
| Rasgef1c |
T |
A |
11: 49,862,246 (GRCm39) |
N378K |
probably damaging |
Het |
| Rpl7a |
T |
C |
2: 26,801,536 (GRCm39) |
V76A |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,377,229 (GRCm39) |
I11F |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,631,777 (GRCm39) |
Q531K |
probably benign |
Het |
| Taar9 |
T |
C |
10: 23,984,945 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tmem198 |
T |
A |
1: 75,457,017 (GRCm39) |
F48I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,595,073 (GRCm39) |
N12032I |
probably damaging |
Het |
| Ubr7 |
T |
A |
12: 102,727,723 (GRCm39) |
C82S |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,483,159 (GRCm39) |
E48G |
possibly damaging |
Het |
| Zfp108 |
T |
C |
7: 23,960,819 (GRCm39) |
V470A |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,816,181 (GRCm39) |
Q424K |
possibly damaging |
Het |
| Zscan4-ps1 |
T |
C |
7: 10,802,761 (GRCm39) |
T13A |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTAGATTTTATACTCTTTCCCAAG -3'
(R):5'- GCTGGCTGATCCACCATG -3'
Sequencing Primer
(F):5'- CAAGTTCTGGAGGTCTCAAGC -3'
(R):5'- TGGAGCTTCCTACATGACTCACAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation