Incidental Mutation 'R6249:Scyl2'
| ID |
505866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scyl2
|
| Ensembl Gene |
ENSMUSG00000069539 |
| Gene Name |
SCY1-like 2 (S. cerevisiae) |
| Synonyms |
D10Ertd802e, CVAK104 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R6249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
89474583-89522147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89493719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 350
(S350P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092227]
[ENSMUST00000174252]
[ENSMUST00000174492]
|
| AlphaFold |
Q8CFE4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092227
AA Change: S350P
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: S350P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
32 |
324 |
9.7e-15 |
PFAM |
|
Pfam:Pkinase
|
32 |
327 |
4.6e-24 |
PFAM |
|
low complexity region
|
356 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
921 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173526
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174252
AA Change: S350P
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: S350P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
32 |
324 |
6.4e-15 |
PFAM |
|
Pfam:Pkinase
|
32 |
327 |
2.9e-26 |
PFAM |
|
low complexity region
|
356 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
922 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174492
AA Change: S75P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134366
Gene: ENSMUSG00000069539
AA Change: S75P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b3ua_
|
66 |
259 |
1e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, absent gastric milk in neonates, postnatal growth retardation, sensory-motor deficits and limb grapsing. Mice homozygous for a conditional allele exhibit similar phenotypes with near complete loss of CA3 neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
A |
T |
7: 115,702,505 (GRCm39) |
S90C |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,036,453 (GRCm39) |
D552G |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,471,639 (GRCm39) |
L502P |
probably damaging |
Het |
| Agmo |
T |
C |
12: 37,293,837 (GRCm39) |
|
probably null |
Het |
| Ank3 |
A |
G |
10: 69,658,906 (GRCm39) |
|
probably null |
Het |
| Apol11b |
G |
T |
15: 77,519,537 (GRCm39) |
T181K |
probably benign |
Het |
| Arap2 |
G |
T |
5: 62,803,536 (GRCm39) |
H1244N |
probably damaging |
Het |
| Arid1b |
A |
T |
17: 5,329,636 (GRCm39) |
M838L |
possibly damaging |
Het |
| Aste1 |
G |
A |
9: 105,273,816 (GRCm39) |
V19I |
probably benign |
Het |
| B3gnt3 |
A |
T |
8: 72,145,306 (GRCm39) |
M354K |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,692,711 (GRCm39) |
M381K |
possibly damaging |
Het |
| Ccdc63 |
A |
C |
5: 122,263,062 (GRCm39) |
L160W |
probably benign |
Het |
| Cerkl |
A |
G |
2: 79,199,122 (GRCm39) |
L156P |
probably damaging |
Het |
| Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Ddb1 |
C |
A |
19: 10,583,084 (GRCm39) |
Y5* |
probably null |
Het |
| Fignl2 |
T |
C |
15: 100,952,060 (GRCm39) |
E74G |
possibly damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,676,850 (GRCm39) |
|
probably benign |
Het |
| Gm16503 |
A |
G |
4: 147,625,508 (GRCm39) |
M1V |
probably null |
Het |
| Gm2696 |
A |
C |
10: 77,630,646 (GRCm39) |
|
probably benign |
Het |
| Gm45844 |
A |
G |
7: 7,243,092 (GRCm39) |
S20P |
probably benign |
Het |
| Gm7579 |
C |
T |
7: 141,765,743 (GRCm39) |
P50S |
unknown |
Het |
| Idh1 |
A |
G |
1: 65,205,378 (GRCm39) |
S196P |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,511,598 (GRCm39) |
V214A |
possibly damaging |
Het |
| Kctd17 |
C |
G |
15: 78,314,239 (GRCm39) |
|
probably null |
Het |
| Lama1 |
G |
T |
17: 68,105,599 (GRCm39) |
V2036L |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,390,271 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
A |
4: 32,708,484 (GRCm39) |
V1670E |
possibly damaging |
Het |
| Mtmr7 |
A |
T |
8: 41,034,524 (GRCm39) |
I266N |
probably damaging |
Het |
| Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
| Nckap5 |
T |
C |
1: 125,952,667 (GRCm39) |
E1295G |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,221,448 (GRCm39) |
V409D |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,566,910 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or2a5 |
G |
T |
6: 42,874,238 (GRCm39) |
L284F |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,384,725 (GRCm39) |
N303Y |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,818 (GRCm39) |
S140C |
possibly damaging |
Het |
| Or5h22 |
T |
C |
16: 58,894,795 (GRCm39) |
Y216C |
probably damaging |
Het |
| Or8b44 |
T |
G |
9: 38,410,880 (GRCm39) |
I305R |
unknown |
Het |
| Pcdha4 |
T |
A |
18: 37,086,729 (GRCm39) |
V304E |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,147,008 (GRCm39) |
|
probably null |
Het |
| Pebp4 |
A |
T |
14: 70,297,099 (GRCm39) |
T213S |
possibly damaging |
Het |
| Phf2 |
C |
A |
13: 48,959,348 (GRCm39) |
R886L |
unknown |
Het |
| Pik3ca |
A |
T |
3: 32,515,712 (GRCm39) |
H795L |
probably damaging |
Het |
| Pisd |
G |
T |
5: 32,896,188 (GRCm39) |
T379N |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,446,196 (GRCm39) |
L732P |
probably damaging |
Het |
| Pskh1 |
A |
G |
8: 106,639,617 (GRCm39) |
D99G |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,429,071 (GRCm39) |
T497A |
probably benign |
Het |
| Rps24 |
C |
T |
14: 24,543,530 (GRCm39) |
T108M |
possibly damaging |
Het |
| Rtel1 |
C |
T |
2: 180,993,475 (GRCm39) |
R566C |
probably damaging |
Het |
| Slc38a7 |
G |
T |
8: 96,564,302 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
G |
6: 143,779,009 (GRCm39) |
I674T |
probably benign |
Het |
| Spata31f1a |
A |
T |
4: 42,850,528 (GRCm39) |
W543R |
probably benign |
Het |
| Surf4 |
C |
A |
2: 26,816,899 (GRCm39) |
E39D |
probably damaging |
Het |
| Tas2r144 |
T |
A |
6: 42,192,291 (GRCm39) |
Y10* |
probably null |
Het |
| Thbs4 |
C |
T |
13: 92,911,215 (GRCm39) |
G323R |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,399,006 (GRCm38) |
Y542C |
probably damaging |
Het |
| Trim61 |
A |
G |
8: 65,467,108 (GRCm39) |
V51A |
probably benign |
Het |
| Tyrp1 |
T |
A |
4: 80,769,009 (GRCm39) |
I501N |
possibly damaging |
Het |
| U2surp |
C |
T |
9: 95,382,869 (GRCm39) |
D32N |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,864,383 (GRCm39) |
Y411C |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,242,365 (GRCm39) |
V490I |
probably benign |
Het |
| Xylt1 |
G |
T |
7: 117,266,528 (GRCm39) |
A849S |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,979,815 (GRCm39) |
N599K |
possibly damaging |
Het |
| Zbtb38 |
T |
A |
9: 96,568,045 (GRCm39) |
Y1013F |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zswim9 |
T |
C |
7: 12,994,903 (GRCm39) |
S418G |
probably damaging |
Het |
|
| Other mutations in Scyl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00567:Scyl2
|
APN |
10 |
89,493,671 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01141:Scyl2
|
APN |
10 |
89,476,497 (GRCm39) |
missense |
probably benign |
|
|
IGL01597:Scyl2
|
APN |
10 |
89,488,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01713:Scyl2
|
APN |
10 |
89,490,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Scyl2
|
APN |
10 |
89,493,800 (GRCm39) |
splice site |
probably benign |
|
|
IGL02466:Scyl2
|
APN |
10 |
89,488,871 (GRCm39) |
nonsense |
probably null |
|
|
IGL02511:Scyl2
|
APN |
10 |
89,476,681 (GRCm39) |
missense |
probably benign |
|
|
IGL02949:Scyl2
|
APN |
10 |
89,496,163 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03087:Scyl2
|
APN |
10 |
89,488,830 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03117:Scyl2
|
APN |
10 |
89,493,729 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03228:Scyl2
|
APN |
10 |
89,485,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Scyl2
|
UTSW |
10 |
89,495,183 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0827:Scyl2
|
UTSW |
10 |
89,493,727 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1394:Scyl2
|
UTSW |
10 |
89,476,827 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1460:Scyl2
|
UTSW |
10 |
89,493,751 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1572:Scyl2
|
UTSW |
10 |
89,486,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Scyl2
|
UTSW |
10 |
89,476,598 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1909:Scyl2
|
UTSW |
10 |
89,476,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3846:Scyl2
|
UTSW |
10 |
89,476,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4041:Scyl2
|
UTSW |
10 |
89,485,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Scyl2
|
UTSW |
10 |
89,476,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4079:Scyl2
|
UTSW |
10 |
89,476,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4765:Scyl2
|
UTSW |
10 |
89,495,160 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4855:Scyl2
|
UTSW |
10 |
89,476,325 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5308:Scyl2
|
UTSW |
10 |
89,477,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5894:Scyl2
|
UTSW |
10 |
89,476,681 (GRCm39) |
missense |
probably benign |
|
|
R5901:Scyl2
|
UTSW |
10 |
89,496,124 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6048:Scyl2
|
UTSW |
10 |
89,481,348 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6658:Scyl2
|
UTSW |
10 |
89,476,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6827:Scyl2
|
UTSW |
10 |
89,505,666 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6909:Scyl2
|
UTSW |
10 |
89,481,604 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7027:Scyl2
|
UTSW |
10 |
89,481,323 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7095:Scyl2
|
UTSW |
10 |
89,505,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Scyl2
|
UTSW |
10 |
89,490,022 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8095:Scyl2
|
UTSW |
10 |
89,476,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Scyl2
|
UTSW |
10 |
89,498,228 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8232:Scyl2
|
UTSW |
10 |
89,498,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Scyl2
|
UTSW |
10 |
89,489,971 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8263:Scyl2
|
UTSW |
10 |
89,476,525 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9020:Scyl2
|
UTSW |
10 |
89,488,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Scyl2
|
UTSW |
10 |
89,476,794 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Scyl2
|
UTSW |
10 |
89,505,577 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGTTACTGTCACTCATGTAC -3'
(R):5'- TACTGCTCAGCTGATTTGAACTTG -3'
Sequencing Primer
(F):5'- TGTACCTCAGGTAAAGCCGTC -3'
(R):5'- CTCAGCTGATTTGAACTTGAAAAATG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation