Incidental Mutation 'IGL01433:Vps35l'
ID |
84257 |
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 # |
IGL01433
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 118373274 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 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 |
noncoding transcript
Transcript: ENSMUST00000129334
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt3 |
C |
T |
3: 30,652,188 (GRCm39) |
G302D |
probably damaging |
Het |
Adam19 |
T |
C |
11: 46,003,610 (GRCm39) |
L146P |
probably damaging |
Het |
Adcy8 |
T |
A |
15: 64,609,263 (GRCm39) |
Y852F |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,223,657 (GRCm39) |
T1520A |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,706,590 (GRCm39) |
V199I |
probably benign |
Het |
Avl9 |
A |
G |
6: 56,730,382 (GRCm39) |
D575G |
probably damaging |
Het |
Bcam |
C |
A |
7: 19,494,107 (GRCm39) |
V395L |
possibly damaging |
Het |
Bltp1 |
T |
G |
3: 36,941,919 (GRCm39) |
S241R |
probably damaging |
Het |
Ccdc198 |
G |
T |
14: 49,473,341 (GRCm39) |
T128K |
probably benign |
Het |
Cgn |
T |
A |
3: 94,686,769 (GRCm39) |
N178Y |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,776,098 (GRCm39) |
D168E |
probably damaging |
Het |
Dnah17 |
G |
T |
11: 117,940,760 (GRCm39) |
T3288K |
probably damaging |
Het |
Ednrb |
A |
T |
14: 104,080,626 (GRCm39) |
I96N |
probably damaging |
Het |
Gdpd3 |
A |
G |
7: 126,370,356 (GRCm39) |
I264V |
possibly damaging |
Het |
Itih4 |
T |
C |
14: 30,617,405 (GRCm39) |
V575A |
probably benign |
Het |
Jhy |
G |
A |
9: 40,828,512 (GRCm39) |
R465C |
possibly damaging |
Het |
Kcna4 |
C |
T |
2: 107,127,078 (GRCm39) |
S604F |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,633,814 (GRCm39) |
V99A |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,392,888 (GRCm39) |
I489T |
possibly damaging |
Het |
Kif13a |
A |
G |
13: 46,926,384 (GRCm39) |
S241P |
probably damaging |
Het |
Lax1 |
T |
C |
1: 133,608,137 (GRCm39) |
I201M |
probably benign |
Het |
Lzic |
T |
A |
4: 149,572,604 (GRCm39) |
S65T |
probably benign |
Het |
Marchf9 |
T |
C |
10: 126,892,562 (GRCm39) |
T309A |
probably benign |
Het |
Ndufc1 |
T |
C |
3: 51,314,797 (GRCm39) |
K70E |
possibly damaging |
Het |
Optn |
T |
C |
2: 5,031,955 (GRCm39) |
K504R |
probably benign |
Het |
Or51q1 |
A |
T |
7: 103,628,539 (GRCm39) |
I53F |
probably damaging |
Het |
Pagr1a |
A |
G |
7: 126,614,647 (GRCm39) |
|
probably benign |
Het |
Pold1 |
G |
A |
7: 44,192,656 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
G |
10: 107,412,741 (GRCm39) |
I1786T |
probably damaging |
Het |
Rgs20 |
T |
C |
1: 5,140,300 (GRCm39) |
D34G |
possibly damaging |
Het |
Rnps1 |
T |
C |
17: 24,643,519 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
T |
C |
14: 52,363,834 (GRCm39) |
V261A |
probably damaging |
Het |
Sfxn1 |
A |
G |
13: 54,247,935 (GRCm39) |
N220S |
probably benign |
Het |
Slc35f1 |
T |
A |
10: 52,949,542 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
T |
C |
10: 75,906,329 (GRCm39) |
|
probably benign |
Het |
Snx19 |
A |
G |
9: 30,340,067 (GRCm39) |
I402V |
possibly damaging |
Het |
Spaca6 |
T |
C |
17: 18,051,429 (GRCm39) |
V35A |
probably benign |
Het |
Taar2 |
A |
G |
10: 23,816,657 (GRCm39) |
T66A |
probably benign |
Het |
Tanc2 |
C |
T |
11: 105,701,348 (GRCm39) |
H288Y |
possibly damaging |
Het |
Tbc1d31 |
A |
G |
15: 57,804,164 (GRCm39) |
Q393R |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,854,276 (GRCm39) |
Y133C |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,448,817 (GRCm39) |
D120G |
probably benign |
Het |
Vmn2r56 |
C |
A |
7: 12,449,541 (GRCm39) |
M232I |
probably benign |
Het |
Zfp251 |
C |
T |
15: 76,738,755 (GRCm39) |
V113I |
probably benign |
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 |
|
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 |
2013-11-11 |