Incidental Mutation 'R9162:Scyl3'
| ID |
695765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scyl3
|
| Ensembl Gene |
ENSMUSG00000026584 |
| Gene Name |
SCY1-like 3 (S. cerevisiae) |
| Synonyms |
1200016D23Rik, Pace1 |
| MMRRC Submission |
068943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R9162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
163756669-163782695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 163773891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 372
(Q372K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027876]
[ENSMUST00000097493]
[ENSMUST00000159516]
[ENSMUST00000161908]
[ENSMUST00000162234]
[ENSMUST00000170359]
|
| AlphaFold |
Q9DBQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027876
AA Change: Q372K
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584
AA Change: Q372K
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000161908
AA Change: Q359K
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584
AA Change: Q359K
| 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 |
possibly damaging
Transcript: ENSMUST00000170359
AA Change: Q359K
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584
AA Change: Q359K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,611,732 (GRCm39) |
D516G |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,058,926 (GRCm39) |
M506T |
probably benign |
Het |
| Abhd17a |
T |
C |
10: 80,422,577 (GRCm39) |
Y35C |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,311,721 (GRCm39) |
N1326S |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,414,645 (GRCm39) |
Y8H |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,050,569 (GRCm39) |
V484A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,883 (GRCm39) |
D2623G |
unknown |
Het |
| Cul9 |
A |
C |
17: 46,837,529 (GRCm39) |
D1005E |
probably benign |
Het |
| Dchs1 |
A |
C |
7: 105,414,732 (GRCm39) |
V770G |
probably damaging |
Het |
| Dcst2 |
C |
A |
3: 89,274,088 (GRCm39) |
S213* |
probably null |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,089,215 (GRCm39) |
T926I |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 53,208,504 (GRCm39) |
R86* |
probably null |
Het |
| Fat1 |
T |
C |
8: 45,404,352 (GRCm39) |
F368L |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,455,860 (GRCm39) |
C2097R |
probably damaging |
Het |
| Git1 |
T |
A |
11: 77,396,331 (GRCm39) |
I565N |
probably benign |
Het |
| Gpr22 |
A |
G |
12: 31,758,724 (GRCm39) |
V466A |
probably benign |
Het |
| Hacd4 |
T |
A |
4: 88,338,017 (GRCm39) |
T194S |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,445,042 (GRCm39) |
K93R |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,972,450 (GRCm39) |
S478G |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,759,363 (GRCm39) |
S829G |
probably benign |
Het |
| Lnp1 |
A |
T |
16: 56,737,844 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Lrp1 |
C |
T |
10: 127,441,368 (GRCm39) |
A252T |
probably benign |
Het |
| Msl2 |
T |
C |
9: 100,978,928 (GRCm39) |
V434A |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,460,897 (GRCm39) |
I716F |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,958,927 (GRCm39) |
|
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,777,454 (GRCm39) |
Y53* |
probably null |
Het |
| Or5b12 |
A |
T |
19: 12,897,024 (GRCm39) |
Y216* |
probably null |
Het |
| Or7e175 |
A |
G |
9: 20,040,457 (GRCm39) |
I6V |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,123,040 (GRCm39) |
S792T |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,168 (GRCm39) |
S653P |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,601,362 (GRCm39) |
K574R |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,430,577 (GRCm39) |
D269E |
probably damaging |
Het |
| Siah2 |
C |
A |
3: 58,599,104 (GRCm39) |
G45C |
unknown |
Het |
| Slc4a11 |
T |
A |
2: 130,534,214 (GRCm39) |
D28V |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,939,453 (GRCm39) |
E200V |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,528,301 (GRCm39) |
M412K |
probably damaging |
Het |
| Spata31e1 |
T |
G |
13: 49,939,310 (GRCm39) |
Q800P |
possibly damaging |
Het |
| Spef2 |
T |
G |
15: 9,602,017 (GRCm39) |
N1415T |
unknown |
Het |
| Stat6 |
A |
G |
10: 127,487,089 (GRCm39) |
K199E |
probably damaging |
Het |
| Syndig1l |
A |
G |
12: 84,727,291 (GRCm39) |
F91S |
probably damaging |
Het |
| Tank |
C |
A |
2: 61,480,432 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Tars3 |
G |
A |
7: 65,332,518 (GRCm39) |
E540K |
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,050,415 (GRCm39) |
V70A |
possibly damaging |
Het |
| Tmem87b |
C |
T |
2: 128,681,150 (GRCm39) |
T358I |
probably benign |
Het |
| Ttyh3 |
G |
A |
5: 140,621,820 (GRCm39) |
A42V |
possibly damaging |
Het |
| Xrn1 |
T |
C |
9: 95,915,660 (GRCm39) |
I1261T |
probably benign |
Het |
| Zfp229 |
T |
C |
17: 21,964,495 (GRCm39) |
S242P |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,163,361 (GRCm39) |
C638S |
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 |
|
R1363:Scyl3
|
UTSW |
1 |
163,778,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- ATTTGGGGTAGAGAACGCACC -3'
(R):5'- TTCACAGACTGAGACACGAC -3'
Sequencing Primer
(F):5'- CAGGAGAAACCCCTTGCTTG -3'
(R):5'- CTAGTGACTCTGGATCTCAGCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation