Incidental Mutation 'R3873:Scyl3'
| ID |
276648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scyl3
|
| Ensembl Gene |
ENSMUSG00000026584 |
| Gene Name |
SCY1-like 3 (S. cerevisiae) |
| Synonyms |
1200016D23Rik, Pace1 |
| MMRRC Submission |
040791-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R3873 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
163756669-163782695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 163778206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 448
(N448S)
|
| 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: N461S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584
AA Change: N461S
| 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: N448S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584
AA Change: N448S
| 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: N448S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584
AA Change: N448S
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
| Acaca |
A |
G |
11: 84,203,547 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,305,125 (GRCm39) |
T110A |
probably benign |
Het |
| Agtpbp1 |
T |
C |
13: 59,608,410 (GRCm39) |
M175V |
possibly damaging |
Het |
| Akt1 |
T |
C |
12: 112,622,967 (GRCm39) |
N367S |
probably benign |
Het |
| Ankrd61 |
T |
A |
5: 143,828,646 (GRCm39) |
T67S |
probably damaging |
Het |
| Arl8a |
T |
C |
1: 135,080,610 (GRCm39) |
|
probably null |
Het |
| Arvcf |
G |
A |
16: 18,221,783 (GRCm39) |
R736Q |
probably damaging |
Het |
| Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,661 (GRCm39) |
V1265E |
probably damaging |
Het |
| Cfap299 |
A |
T |
5: 98,885,482 (GRCm39) |
I130F |
probably damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,317,588 (GRCm39) |
D397G |
probably damaging |
Het |
| Dlgap4 |
T |
C |
2: 156,591,267 (GRCm39) |
S818P |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,328,701 (GRCm39) |
T4590A |
probably damaging |
Het |
| Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
| Fscb |
G |
T |
12: 64,519,906 (GRCm39) |
P520Q |
unknown |
Het |
| Gli1 |
T |
A |
10: 127,167,225 (GRCm39) |
N676I |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,266,660 (GRCm39) |
I1916T |
probably damaging |
Het |
| Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
| Il7 |
A |
T |
3: 7,669,224 (GRCm39) |
V4D |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,004,442 (GRCm39) |
I243N |
probably damaging |
Het |
| Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
| Klhl13 |
T |
C |
X: 23,151,415 (GRCm39) |
D21G |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
| Ly6g6e |
T |
C |
17: 35,296,159 (GRCm39) |
V10A |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,659,324 (GRCm39) |
V411I |
probably damaging |
Het |
| Mrpl32 |
G |
T |
13: 14,787,630 (GRCm39) |
|
probably benign |
Het |
| Ncald |
G |
A |
15: 37,397,497 (GRCm39) |
A61V |
probably damaging |
Het |
| Nek2 |
T |
C |
1: 191,559,320 (GRCm39) |
V275A |
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
| Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
| Or5m10b |
T |
A |
2: 85,699,306 (GRCm39) |
Y123* |
probably null |
Het |
| Pgam5 |
T |
C |
5: 110,413,465 (GRCm39) |
Y210C |
probably damaging |
Het |
| Phf5a |
T |
C |
15: 81,754,628 (GRCm39) |
N50D |
probably benign |
Het |
| Prl7d1 |
A |
G |
13: 27,900,651 (GRCm39) |
M1T |
probably null |
Het |
| Sacs |
A |
G |
14: 61,429,735 (GRCm39) |
K595R |
possibly damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,670,518 (GRCm39) |
D2V |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,753,885 (GRCm39) |
|
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,796,482 (GRCm39) |
L60P |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,151,301 (GRCm39) |
V623A |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vipr2 |
T |
C |
12: 116,099,724 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,488,177 (GRCm39) |
M350T |
probably benign |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,339 (GRCm39) |
E417G |
possibly damaging |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,701 (GRCm39) |
V316F |
probably benign |
Het |
| Zfp53 |
C |
T |
17: 21,728,893 (GRCm39) |
P309S |
probably damaging |
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 |
|
|
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'- TTTAACCTCAGGAGACAGGAAACC -3'
(R):5'- AACTGTTTGGAGAGGTCAGAC -3'
Sequencing Primer
(F):5'- GGAGACAGGAAACCCATTTAATAATG -3'
(R):5'- CTGTTTGGAGAGGTCAGACAAGAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation