Incidental Mutation 'R0017:Scyl3'
ID |
8333 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scyl3
|
Ensembl Gene |
ENSMUSG00000026584 |
Gene Name |
SCY1-like 3 (S. cerevisiae) |
Synonyms |
1200016D23Rik, Pace1 |
MMRRC Submission |
038312-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R0017 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
163756669-163782695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 163767538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 204
(I204N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027876]
[ENSMUST00000159516]
[ENSMUST00000161908]
[ENSMUST00000162234]
[ENSMUST00000170359]
|
AlphaFold |
Q9DBQ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027876
AA Change: I204N
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027876 Gene: ENSMUSG00000026584 AA Change: I204N
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: ENSMUST00000159516
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161908
AA Change: I204N
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000125735 Gene: ENSMUSG00000026584 AA Change: I204N
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 |
noncoding transcript
Transcript: ENSMUST00000163033
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170359
AA Change: I204N
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000132109 Gene: ENSMUSG00000026584 AA Change: I204N
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 |
|
Meta Mutation Damage Score |
0.2000 |
Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.1%
- 10x: 41.8%
- 20x: 21.2%
|
Validation Efficiency |
93% (76/82) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
T |
17: 9,226,938 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,727,065 (GRCm39) |
N429S |
probably benign |
Het |
Cdca8 |
T |
C |
4: 124,814,168 (GRCm39) |
T208A |
probably benign |
Het |
Dcdc5 |
G |
A |
2: 106,187,541 (GRCm39) |
|
noncoding transcript |
Het |
Fig4 |
A |
G |
10: 41,149,003 (GRCm39) |
Y150H |
possibly damaging |
Het |
Fsip2 |
G |
A |
2: 82,822,416 (GRCm39) |
V6050M |
probably damaging |
Het |
Gpld1 |
A |
G |
13: 25,174,101 (GRCm39) |
D842G |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,788,597 (GRCm39) |
|
probably benign |
Het |
Ifit2 |
A |
T |
19: 34,550,973 (GRCm39) |
N171I |
probably damaging |
Het |
Ipo11 |
T |
A |
13: 107,023,238 (GRCm39) |
I416L |
probably benign |
Het |
Kcnab1 |
G |
A |
3: 65,264,527 (GRCm39) |
V259M |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,622,725 (GRCm39) |
T526A |
probably benign |
Het |
Nucb2 |
A |
G |
7: 116,132,386 (GRCm39) |
D331G |
probably benign |
Het |
Pfdn6 |
T |
C |
17: 34,158,538 (GRCm39) |
R79G |
probably damaging |
Het |
Pkd1 |
G |
T |
17: 24,797,513 (GRCm39) |
|
probably null |
Het |
Ptpro |
T |
C |
6: 137,393,825 (GRCm39) |
V831A |
probably benign |
Het |
Reg3b |
T |
A |
6: 78,349,844 (GRCm39) |
M128K |
possibly damaging |
Het |
Rif1 |
A |
G |
2: 52,006,686 (GRCm39) |
T2207A |
probably benign |
Het |
Rpa1 |
A |
C |
11: 75,205,687 (GRCm39) |
N223K |
probably null |
Het |
Rras2 |
T |
C |
7: 113,647,490 (GRCm39) |
|
probably benign |
Het |
Slc45a1 |
C |
A |
4: 150,714,023 (GRCm39) |
D741Y |
possibly damaging |
Het |
Slco1a5 |
A |
T |
6: 142,182,061 (GRCm39) |
|
probably benign |
Het |
Smg5 |
G |
T |
3: 88,258,412 (GRCm39) |
R461L |
probably damaging |
Het |
Sync |
G |
A |
4: 129,187,537 (GRCm39) |
V190M |
probably damaging |
Het |
Tshr |
A |
T |
12: 91,504,660 (GRCm39) |
I533F |
possibly damaging |
Het |
Tsn |
T |
C |
1: 118,228,589 (GRCm39) |
D211G |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,621,988 (GRCm39) |
T15518I |
probably benign |
Het |
Vapb |
A |
G |
2: 173,613,397 (GRCm39) |
T99A |
probably benign |
Het |
Zfp280d |
A |
T |
9: 72,246,292 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Posted On |
2012-11-21 |