Incidental Mutation 'R1363:Scyl3'
| ID |
156346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scyl3
|
| Ensembl Gene |
ENSMUSG00000026584 |
| Gene Name |
SCY1-like 3 (S. cerevisiae) |
| Synonyms |
1200016D23Rik, Pace1 |
| MMRRC Submission |
039428-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R1363 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
163756669-163782695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 163778259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 466
(I466V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027876]
[ENSMUST00000045876]
[ENSMUST00000097493]
[ENSMUST00000159516]
[ENSMUST00000159617]
[ENSMUST00000161908]
[ENSMUST00000162234]
[ENSMUST00000170359]
|
| AlphaFold |
Q9DBQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027876
AA Change: I479V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584
AA Change: I479V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
32 |
245 |
1.9e-7 |
PFAM |
|
low complexity region
|
525 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045876
|
| SMART Domains |
Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
Pfam:DUF4487
|
233 |
779 |
2.3e-209 |
PFAM |
|
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097493
|
| SMART Domains |
Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
Pfam:DUF4487
|
233 |
779 |
1.3e-186 |
PFAM |
|
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161908
AA Change: I466V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584
AA Change: I466V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
25 |
274 |
1.5e-8 |
PFAM |
|
low complexity region
|
512 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162234
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170359
AA Change: I466V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584
AA Change: I466V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
25 |
274 |
1.5e-8 |
PFAM |
|
low complexity region
|
512 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162920
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc88b |
T |
A |
19: 6,827,739 (GRCm39) |
Y921F |
possibly damaging |
Het |
| Cct7 |
G |
T |
6: 85,443,017 (GRCm39) |
D265Y |
probably damaging |
Het |
| Cdc14a |
CGCTGCTGCTGCTGCTGCTG |
CGCTGCTGCTGCTGCTG |
3: 116,087,509 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,257,917 (GRCm39) |
M629V |
possibly damaging |
Het |
| Dlk1 |
G |
T |
12: 109,421,430 (GRCm39) |
G48V |
probably damaging |
Het |
| Fancc |
T |
C |
13: 63,509,412 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ifi204 |
C |
T |
1: 173,576,862 (GRCm39) |
V580I |
probably benign |
Het |
| Irs1 |
A |
G |
1: 82,265,009 (GRCm39) |
V1069A |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,487,247 (GRCm39) |
Q1601* |
probably null |
Het |
| Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
| Ptpn14 |
C |
A |
1: 189,530,825 (GRCm39) |
F97L |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
A |
T |
5: 146,148,369 (GRCm39) |
F216L |
probably benign |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Slc7a11 |
T |
C |
3: 50,378,500 (GRCm39) |
Y246C |
probably damaging |
Het |
| Stk33 |
A |
T |
7: 108,879,028 (GRCm39) |
S440R |
probably benign |
Het |
| Ttbk2 |
T |
C |
2: 120,637,389 (GRCm39) |
|
probably null |
Het |
| Vmn2r105 |
T |
A |
17: 20,428,932 (GRCm39) |
T715S |
probably benign |
Het |
|
| Other mutations in Scyl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Scyl3
|
APN |
1 |
163,762,338 (GRCm39) |
nonsense |
probably null |
|
|
IGL03410:Scyl3
|
APN |
1 |
163,772,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0017:Scyl3
|
UTSW |
1 |
163,767,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0017:Scyl3
|
UTSW |
1 |
163,767,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1138:Scyl3
|
UTSW |
1 |
163,761,234 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1564:Scyl3
|
UTSW |
1 |
163,767,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1843:Scyl3
|
UTSW |
1 |
163,778,244 (GRCm39) |
missense |
probably benign |
|
|
R1856:Scyl3
|
UTSW |
1 |
163,761,265 (GRCm39) |
splice site |
probably null |
|
|
R3873:Scyl3
|
UTSW |
1 |
163,778,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4018:Scyl3
|
UTSW |
1 |
163,764,068 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4746:Scyl3
|
UTSW |
1 |
163,776,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Scyl3
|
UTSW |
1 |
163,762,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Scyl3
|
UTSW |
1 |
163,782,245 (GRCm39) |
splice site |
probably null |
|
|
R6125:Scyl3
|
UTSW |
1 |
163,778,145 (GRCm39) |
missense |
probably benign |
|
|
R6268:Scyl3
|
UTSW |
1 |
163,773,786 (GRCm39) |
nonsense |
probably null |
|
|
R6374:Scyl3
|
UTSW |
1 |
163,776,783 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7397:Scyl3
|
UTSW |
1 |
163,778,487 (GRCm39) |
splice site |
probably null |
|
|
R7489:Scyl3
|
UTSW |
1 |
163,776,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7529:Scyl3
|
UTSW |
1 |
163,771,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7615:Scyl3
|
UTSW |
1 |
163,777,907 (GRCm39) |
splice site |
probably null |
|
|
R8089:Scyl3
|
UTSW |
1 |
163,763,996 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9162:Scyl3
|
UTSW |
1 |
163,773,891 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9332:Scyl3
|
UTSW |
1 |
163,764,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9559:Scyl3
|
UTSW |
1 |
163,779,773 (GRCm39) |
missense |
probably benign |
|
|
R9739:Scyl3
|
UTSW |
1 |
163,771,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCCATCACCAAGTGGCAAC -3'
(R):5'- TGTGGGAGGATTAGATGCATAACAACTG -3'
Sequencing Primer
(F):5'- GAACCTGTCTTTAACCTCAGGAG -3'
(R):5'- CATAACAACTGTTTGGAGAGGTC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation