Incidental Mutation 'R9559:Scyl3'
| ID |
720895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scyl3
|
| Ensembl Gene |
ENSMUSG00000026584 |
| Gene Name |
SCY1-like 3 (S. cerevisiae) |
| Synonyms |
1200016D23Rik, Pace1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R9559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
163756669-163782695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163779773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 580
(I580T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027876
(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: I580T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584
AA Change: I580T
| 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: I567T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584
AA Change: I567T
| 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: I567T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584
AA Change: I567T
| 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: 99.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,021,019 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,749,782 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
A |
T |
18: 61,640,267 (GRCm39) |
|
probably null |
Het |
| Asb14 |
T |
C |
14: 26,637,052 (GRCm39) |
V598A |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,216,532 (GRCm39) |
F10Y |
probably benign |
Het |
| Bbc3 |
T |
C |
7: 16,047,660 (GRCm39) |
V128A |
probably benign |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,939,459 (GRCm39) |
|
probably null |
Het |
| Cfh |
G |
T |
1: 140,030,275 (GRCm39) |
P884Q |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,613,086 (GRCm39) |
Y479C |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,913,630 (GRCm39) |
G477E |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
| Csmd2 |
G |
T |
4: 128,438,561 (GRCm39) |
G3047C |
|
Het |
| Cyb5r3 |
C |
A |
15: 83,043,123 (GRCm39) |
E190* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,650,951 (GRCm39) |
V983D |
probably benign |
Het |
| Fcer1a |
T |
G |
1: 173,052,884 (GRCm39) |
Y104S |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,429,759 (GRCm39) |
T169A |
possibly damaging |
Het |
| Gimap9 |
A |
T |
6: 48,655,134 (GRCm39) |
K240N |
probably benign |
Het |
| Gmeb1 |
A |
C |
4: 131,953,140 (GRCm39) |
V542G |
probably benign |
Het |
| Grb10 |
C |
A |
11: 11,895,535 (GRCm39) |
R318L |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,528,793 (GRCm39) |
I279K |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Kdm4b |
T |
C |
17: 56,693,228 (GRCm39) |
L355P |
probably damaging |
Het |
| Kif26a |
C |
T |
12: 112,142,004 (GRCm39) |
R753W |
probably damaging |
Het |
| Krtcap2 |
C |
T |
3: 89,154,178 (GRCm39) |
T33I |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,129,009 (GRCm39) |
|
probably null |
Het |
| Mov10 |
A |
G |
3: 104,708,277 (GRCm39) |
F491L |
|
Het |
| Mterf1a |
C |
T |
5: 3,941,807 (GRCm39) |
W20* |
probably null |
Het |
| Nck2 |
T |
C |
1: 43,593,207 (GRCm39) |
V138A |
probably damaging |
Het |
| Or2h2c |
C |
T |
17: 37,422,509 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or5ac24 |
C |
A |
16: 59,165,368 (GRCm39) |
G232V |
probably damaging |
Het |
| Or5ak24 |
A |
C |
2: 85,260,753 (GRCm39) |
V140G |
possibly damaging |
Het |
| Or7e173 |
A |
G |
9: 19,939,216 (GRCm39) |
V6A |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,882,027 (GRCm39) |
V39A |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,899,017 (GRCm39) |
H998R |
probably damaging |
Het |
| Prb1a |
G |
A |
6: 132,184,388 (GRCm39) |
S415F |
unknown |
Het |
| Prl3d1 |
C |
T |
13: 27,280,470 (GRCm39) |
T73I |
probably benign |
Het |
| Scgn |
A |
G |
13: 24,137,921 (GRCm39) |
L250P |
probably damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,585,041 (GRCm39) |
Q14L |
probably benign |
Het |
| Slc22a12 |
T |
A |
19: 6,587,686 (GRCm39) |
N423Y |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,473,056 (GRCm39) |
S951T |
probably benign |
Het |
| Ubash3b |
G |
A |
9: 40,954,926 (GRCm39) |
P195S |
probably damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,498 (GRCm39) |
F272S |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,358,053 (GRCm39) |
I454F |
probably benign |
Het |
| Zfp112 |
G |
T |
7: 23,826,108 (GRCm39) |
C696F |
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 |
|
|
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 |
|
R9739:Scyl3
|
UTSW |
1 |
163,771,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCAGGTTCTAATAAGCCCG -3'
(R):5'- TGGTAAACTCTTCTCCCAAACC -3'
Sequencing Primer
(F):5'- TTCTAATAAGCCCGAGGAGTGGC -3'
(R):5'- AAGTCCTGACGGAGCCTTCAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation