Incidental Mutation 'IGL02381:Vps35l'
ID |
291380 |
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 # |
IGL02381
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118374598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 342
(Y342C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033280]
[ENSMUST00000059390]
[ENSMUST00000106552]
[ENSMUST00000106553]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033280
AA Change: Y103C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059390
AA Change: Y366C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051263 Gene: ENSMUSG00000030982 AA Change: Y366C
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106552
AA Change: Y342C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102162 Gene: ENSMUSG00000030982 AA Change: Y342C
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106553
AA Change: Y342C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102163 Gene: ENSMUSG00000030982 AA Change: Y342C
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129334
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,904,413 (GRCm39) |
I126F |
probably damaging |
Het |
Antxrl |
T |
G |
14: 33,778,568 (GRCm39) |
|
probably null |
Het |
Arsa |
A |
T |
15: 89,359,740 (GRCm39) |
Y62* |
probably null |
Het |
Atg2b |
C |
A |
12: 105,614,607 (GRCm39) |
C1108F |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,863,338 (GRCm39) |
Q651R |
probably benign |
Het |
Atxn7l2 |
A |
G |
3: 108,111,811 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
A |
G |
X: 7,482,307 (GRCm39) |
D597G |
probably damaging |
Het |
Capn12 |
T |
C |
7: 28,585,880 (GRCm39) |
|
probably benign |
Het |
Ctnna2 |
A |
T |
6: 76,931,766 (GRCm39) |
D624E |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,337,118 (GRCm39) |
E3274G |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,316,280 (GRCm39) |
N3131I |
probably damaging |
Het |
Fam3a |
C |
T |
X: 73,430,690 (GRCm39) |
G112E |
probably damaging |
Het |
Focad |
T |
G |
4: 88,192,327 (GRCm39) |
|
probably benign |
Het |
Fyb2 |
G |
A |
4: 104,805,863 (GRCm39) |
|
probably benign |
Het |
Htt |
C |
T |
5: 34,987,104 (GRCm39) |
P1108S |
probably benign |
Het |
Ift80 |
A |
T |
3: 68,869,653 (GRCm39) |
|
probably null |
Het |
Insc |
T |
C |
7: 114,449,177 (GRCm39) |
*533Q |
probably null |
Het |
Itga2 |
A |
G |
13: 114,993,258 (GRCm39) |
C786R |
probably damaging |
Het |
Lman2 |
A |
G |
13: 55,499,282 (GRCm39) |
W198R |
possibly damaging |
Het |
Med23 |
A |
G |
10: 24,776,626 (GRCm39) |
T713A |
possibly damaging |
Het |
Mtus1 |
A |
T |
8: 41,536,156 (GRCm39) |
M520K |
probably benign |
Het |
Mvd |
C |
A |
8: 123,163,894 (GRCm39) |
G252V |
probably benign |
Het |
Ncoa3 |
T |
A |
2: 165,894,737 (GRCm39) |
V340E |
probably damaging |
Het |
Necab1 |
A |
G |
4: 15,148,812 (GRCm39) |
|
probably null |
Het |
Noxred1 |
T |
C |
12: 87,271,776 (GRCm39) |
D131G |
probably damaging |
Het |
P2ry4 |
C |
A |
X: 99,637,807 (GRCm39) |
K30N |
probably damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,277,320 (GRCm39) |
V100D |
possibly damaging |
Het |
Piezo1 |
C |
A |
8: 123,225,283 (GRCm39) |
R571L |
probably benign |
Het |
Pkd1l2 |
C |
T |
8: 117,762,539 (GRCm39) |
|
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,370,034 (GRCm39) |
T32A |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,697,342 (GRCm39) |
V613A |
possibly damaging |
Het |
Rp1 |
A |
G |
1: 4,422,613 (GRCm39) |
S156P |
probably benign |
Het |
Sema3f |
A |
T |
9: 107,569,594 (GRCm39) |
D48E |
probably damaging |
Het |
Shisal1 |
A |
G |
15: 84,290,654 (GRCm39) |
S218P |
probably damaging |
Het |
Slc29a4 |
T |
C |
5: 142,705,854 (GRCm39) |
V446A |
probably benign |
Het |
Sppl3 |
C |
T |
5: 115,212,969 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,599,982 (GRCm39) |
E19064G |
probably damaging |
Het |
|
Other mutations in Vps35l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00159:Vps35l
|
APN |
7 |
118,396,270 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
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 |
2015-04-16 |