Incidental Mutation 'IGL00159:Vps35l'
ID |
1445 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vps35l
|
Ensembl Gene |
ENSMUSG00000030982 |
Gene Name |
VPS35 endosomal protein sorting factor like |
Synonyms |
9030624J02Rik, Vsp35l |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
IGL00159
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 118396270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033280]
[ENSMUST00000059390]
[ENSMUST00000106552]
[ENSMUST00000106553]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000033280
|
Predicted Effect |
probably null
Transcript: ENSMUST00000059390
|
SMART Domains |
Protein: ENSMUSP00000051263 Gene: ENSMUSG00000030982
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106552
|
SMART Domains |
Protein: ENSMUSP00000102162 Gene: ENSMUSG00000030982
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106553
|
SMART Domains |
Protein: ENSMUSP00000102163 Gene: ENSMUSG00000030982
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000149749
|
SMART Domains |
Protein: ENSMUSP00000121323 Gene: ENSMUSG00000030982
Domain | Start | End | E-Value | Type |
Pfam:Vps35
|
2 |
198 |
7.3e-10 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Axin1 |
A |
T |
17: 26,361,779 (GRCm39) |
D41V |
possibly damaging |
Het |
BC034090 |
C |
A |
1: 155,101,197 (GRCm39) |
E718* |
probably null |
Het |
Cdc123 |
G |
T |
2: 5,809,746 (GRCm39) |
Q222K |
probably benign |
Het |
Clip1 |
A |
C |
5: 123,741,717 (GRCm39) |
V1053G |
possibly damaging |
Het |
Dock7 |
T |
A |
4: 98,952,222 (GRCm39) |
E416V |
probably damaging |
Het |
Dydc1 |
T |
C |
14: 40,809,370 (GRCm39) |
L143P |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,158,839 (GRCm39) |
V732A |
probably benign |
Het |
Dzip1l |
T |
A |
9: 99,519,830 (GRCm39) |
L119Q |
probably damaging |
Het |
Erp27 |
T |
A |
6: 136,886,500 (GRCm39) |
S178C |
probably damaging |
Het |
Fbn1 |
A |
G |
2: 125,239,793 (GRCm39) |
V298A |
probably benign |
Het |
Fbxo34 |
A |
G |
14: 47,766,931 (GRCm39) |
H97R |
probably damaging |
Het |
Gm20521 |
C |
T |
14: 55,122,079 (GRCm39) |
Q81* |
probably null |
Het |
Gspt1 |
T |
C |
16: 11,040,476 (GRCm39) |
M610V |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,344,964 (GRCm39) |
Q1919R |
possibly damaging |
Het |
Il19 |
A |
G |
1: 130,862,792 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,002 (GRCm39) |
K1309E |
possibly damaging |
Het |
Lurap1 |
T |
C |
4: 115,994,887 (GRCm39) |
T115A |
probably damaging |
Het |
Myo18b |
G |
T |
5: 113,021,997 (GRCm39) |
T465K |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,397,705 (GRCm39) |
D648V |
probably damaging |
Het |
Or13c25 |
T |
G |
4: 52,911,618 (GRCm39) |
M59L |
possibly damaging |
Het |
Or2at4 |
G |
A |
7: 99,384,524 (GRCm39) |
R58H |
probably benign |
Het |
Otof |
T |
C |
5: 30,533,248 (GRCm39) |
Y1527C |
probably damaging |
Het |
Otop3 |
G |
A |
11: 115,235,223 (GRCm39) |
C285Y |
probably damaging |
Het |
Parp3 |
A |
G |
9: 106,348,586 (GRCm39) |
I478T |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,458,069 (GRCm39) |
E265K |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,841,851 (GRCm39) |
L634P |
probably damaging |
Het |
Prkg1 |
C |
A |
19: 31,279,740 (GRCm39) |
V165L |
probably benign |
Het |
Riok3 |
A |
G |
18: 12,281,948 (GRCm39) |
I306V |
possibly damaging |
Het |
Ror2 |
T |
C |
13: 53,267,118 (GRCm39) |
D439G |
probably benign |
Het |
Scn2a |
T |
A |
2: 65,573,434 (GRCm39) |
I1428N |
probably damaging |
Het |
Sgcg |
C |
T |
14: 61,469,924 (GRCm39) |
D146N |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,291,397 (GRCm39) |
|
probably null |
Het |
Slc16a9 |
A |
G |
10: 70,118,529 (GRCm39) |
R283G |
probably benign |
Het |
Sptb |
T |
C |
12: 76,668,105 (GRCm39) |
D664G |
probably benign |
Het |
Tmprss3 |
T |
A |
17: 31,413,982 (GRCm39) |
D54V |
probably damaging |
Het |
Tubd1 |
G |
T |
11: 86,456,555 (GRCm39) |
V374F |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,078,209 (GRCm39) |
M83K |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,853,281 (GRCm39) |
E2458G |
probably benign |
Het |
Zhx2 |
A |
T |
15: 57,686,266 (GRCm39) |
E545V |
probably damaging |
Het |
|
Other mutations in Vps35l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Vps35l
|
APN |
7 |
118,403,414 (GRCm39) |
splice site |
probably benign |
|
IGL01066:Vps35l
|
APN |
7 |
118,372,234 (GRCm39) |
splice site |
probably null |
|
IGL01433:Vps35l
|
APN |
7 |
118,373,274 (GRCm39) |
splice site |
probably null |
|
IGL02381:Vps35l
|
APN |
7 |
118,374,598 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02566:Vps35l
|
APN |
7 |
118,352,055 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03199:Vps35l
|
APN |
7 |
118,365,611 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03224:Vps35l
|
APN |
7 |
118,391,776 (GRCm39) |
unclassified |
probably benign |
|
R0535:Vps35l
|
UTSW |
7 |
118,347,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1109:Vps35l
|
UTSW |
7 |
118,374,552 (GRCm39) |
missense |
probably damaging |
0.97 |
R1378:Vps35l
|
UTSW |
7 |
118,393,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R1378:Vps35l
|
UTSW |
7 |
118,393,795 (GRCm39) |
nonsense |
probably null |
|
R1412:Vps35l
|
UTSW |
7 |
118,409,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R1474:Vps35l
|
UTSW |
7 |
118,359,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R1586:Vps35l
|
UTSW |
7 |
118,409,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1785:Vps35l
|
UTSW |
7 |
118,393,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1786:Vps35l
|
UTSW |
7 |
118,393,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1921:Vps35l
|
UTSW |
7 |
118,432,971 (GRCm39) |
missense |
probably damaging |
0.98 |
R1971:Vps35l
|
UTSW |
7 |
118,374,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R2038:Vps35l
|
UTSW |
7 |
118,411,097 (GRCm39) |
missense |
probably damaging |
0.98 |
R2107:Vps35l
|
UTSW |
7 |
118,393,762 (GRCm39) |
unclassified |
probably benign |
|
R2130:Vps35l
|
UTSW |
7 |
118,393,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R2131:Vps35l
|
UTSW |
7 |
118,393,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Vps35l
|
UTSW |
7 |
118,393,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R2133:Vps35l
|
UTSW |
7 |
118,393,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R2405:Vps35l
|
UTSW |
7 |
118,391,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R2411:Vps35l
|
UTSW |
7 |
118,391,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R3910:Vps35l
|
UTSW |
7 |
118,345,613 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3911:Vps35l
|
UTSW |
7 |
118,345,613 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3912:Vps35l
|
UTSW |
7 |
118,345,613 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3971:Vps35l
|
UTSW |
7 |
118,433,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R4697:Vps35l
|
UTSW |
7 |
118,390,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Vps35l
|
UTSW |
7 |
118,379,491 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4980:Vps35l
|
UTSW |
7 |
118,406,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R5034:Vps35l
|
UTSW |
7 |
118,390,611 (GRCm39) |
missense |
probably damaging |
0.99 |
R5309:Vps35l
|
UTSW |
7 |
118,412,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R5312:Vps35l
|
UTSW |
7 |
118,412,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R5743:Vps35l
|
UTSW |
7 |
118,396,234 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6017:Vps35l
|
UTSW |
7 |
118,409,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R6089:Vps35l
|
UTSW |
7 |
118,345,658 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6320:Vps35l
|
UTSW |
7 |
118,353,072 (GRCm39) |
missense |
probably benign |
0.08 |
R6415:Vps35l
|
UTSW |
7 |
118,391,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R6861:Vps35l
|
UTSW |
7 |
118,342,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R7034:Vps35l
|
UTSW |
7 |
118,372,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R7036:Vps35l
|
UTSW |
7 |
118,372,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R7339:Vps35l
|
UTSW |
7 |
118,409,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R7456:Vps35l
|
UTSW |
7 |
118,403,340 (GRCm39) |
missense |
probably benign |
0.01 |
R7493:Vps35l
|
UTSW |
7 |
118,393,800 (GRCm39) |
splice site |
probably null |
|
R8064:Vps35l
|
UTSW |
7 |
118,353,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Vps35l
|
UTSW |
7 |
118,342,855 (GRCm39) |
missense |
probably benign |
0.19 |
R8279:Vps35l
|
UTSW |
7 |
118,345,722 (GRCm39) |
missense |
probably benign |
|
R8354:Vps35l
|
UTSW |
7 |
118,391,795 (GRCm39) |
missense |
probably benign |
0.07 |
R8454:Vps35l
|
UTSW |
7 |
118,391,795 (GRCm39) |
missense |
probably benign |
0.07 |
R8954:Vps35l
|
UTSW |
7 |
118,393,801 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9450:Vps35l
|
UTSW |
7 |
118,352,118 (GRCm39) |
critical splice donor site |
probably null |
|
R9642:Vps35l
|
UTSW |
7 |
118,437,451 (GRCm39) |
missense |
probably benign |
0.00 |
R9667:Vps35l
|
UTSW |
7 |
118,348,915 (GRCm39) |
critical splice donor site |
probably null |
|
R9749:Vps35l
|
UTSW |
7 |
118,352,107 (GRCm39) |
missense |
probably benign |
0.03 |
X0028:Vps35l
|
UTSW |
7 |
118,399,675 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2011-07-12 |