Incidental Mutation 'IGL01066:Vps35l'
ID |
51429 |
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 # |
IGL01066
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 118372234 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033280]
[ENSMUST00000059390]
[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: 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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208351
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
2300003K06Rik |
T |
A |
11: 99,728,454 (GRCm39) |
R130* |
probably null |
Het |
Abca12 |
T |
A |
1: 71,392,889 (GRCm39) |
R117W |
possibly damaging |
Het |
Agrn |
A |
G |
4: 156,261,800 (GRCm39) |
S497P |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,473,874 (GRCm39) |
S710T |
probably benign |
Het |
Anapc4 |
T |
A |
5: 53,014,551 (GRCm39) |
N471K |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,491,790 (GRCm39) |
M879K |
probably null |
Het |
Apoe |
A |
G |
7: 19,430,525 (GRCm39) |
L239P |
probably damaging |
Het |
Ash1l |
T |
C |
3: 88,891,942 (GRCm39) |
Y1274H |
probably damaging |
Het |
B3glct |
C |
T |
5: 149,632,890 (GRCm39) |
T80I |
possibly damaging |
Het |
Ccdc146 |
T |
C |
5: 21,524,540 (GRCm39) |
T271A |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,455,223 (GRCm39) |
N1088I |
probably damaging |
Het |
Csnk1g2 |
T |
C |
10: 80,470,481 (GRCm39) |
|
probably benign |
Het |
Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
Dnai7 |
C |
T |
6: 145,121,948 (GRCm39) |
G624S |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,392,192 (GRCm39) |
|
probably benign |
Het |
Enc1 |
A |
G |
13: 97,381,822 (GRCm39) |
I111V |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,816,065 (GRCm39) |
|
probably benign |
Het |
Fig4 |
T |
C |
10: 41,161,413 (GRCm39) |
|
probably benign |
Het |
Fkbp7 |
A |
T |
2: 76,503,252 (GRCm39) |
L36* |
probably null |
Het |
Fxn |
A |
T |
19: 24,244,662 (GRCm39) |
|
probably benign |
Het |
Gm10152 |
C |
T |
7: 144,316,993 (GRCm39) |
P16L |
unknown |
Het |
Hivep2 |
T |
C |
10: 14,024,768 (GRCm39) |
V2194A |
possibly damaging |
Het |
Hook3 |
T |
G |
8: 26,538,326 (GRCm39) |
E525A |
probably damaging |
Het |
Icam1 |
A |
G |
9: 20,927,401 (GRCm39) |
|
probably null |
Het |
Ifngr1 |
C |
T |
10: 19,484,946 (GRCm39) |
T315I |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,235,203 (GRCm39) |
|
probably null |
Het |
Irag2 |
T |
C |
6: 145,106,681 (GRCm39) |
S222P |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,336,266 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
A |
17: 68,050,321 (GRCm39) |
C311S |
probably damaging |
Het |
Lig3 |
T |
A |
11: 82,688,141 (GRCm39) |
M714K |
possibly damaging |
Het |
Lypd5 |
C |
T |
7: 24,052,910 (GRCm39) |
T189I |
probably benign |
Het |
Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
Met |
T |
C |
6: 17,535,104 (GRCm39) |
|
probably null |
Het |
Nlrp4g |
C |
A |
9: 124,349,526 (GRCm38) |
|
noncoding transcript |
Het |
Nlrp6 |
T |
A |
7: 140,501,709 (GRCm39) |
V62D |
possibly damaging |
Het |
Nme7 |
A |
G |
1: 164,172,999 (GRCm39) |
|
probably null |
Het |
Or2y1f |
T |
C |
11: 49,184,457 (GRCm39) |
I103T |
possibly damaging |
Het |
Or5m9 |
A |
G |
2: 85,877,602 (GRCm39) |
R259G |
probably damaging |
Het |
Or5p79 |
T |
C |
7: 108,221,064 (GRCm39) |
F15S |
probably damaging |
Het |
Pcnx1 |
G |
A |
12: 82,038,795 (GRCm39) |
R2020Q |
possibly damaging |
Het |
Pdzd2 |
T |
A |
15: 12,402,718 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,166,637 (GRCm39) |
|
probably benign |
Het |
Pkdrej |
T |
G |
15: 85,700,360 (GRCm39) |
I1859L |
probably benign |
Het |
Plcg1 |
A |
T |
2: 160,596,318 (GRCm39) |
H638L |
probably damaging |
Het |
Polr1b |
C |
T |
2: 128,961,072 (GRCm39) |
S677L |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,382,096 (GRCm39) |
L533P |
probably damaging |
Het |
Sh3rf1 |
T |
A |
8: 61,782,370 (GRCm39) |
W171R |
probably damaging |
Het |
Son |
T |
C |
16: 91,457,024 (GRCm39) |
|
probably benign |
Het |
Sycp1 |
A |
G |
3: 102,827,950 (GRCm39) |
S266P |
probably damaging |
Het |
Tedc1 |
A |
G |
12: 113,126,770 (GRCm39) |
E344G |
probably damaging |
Het |
Tkfc |
T |
C |
19: 10,571,892 (GRCm39) |
I381M |
probably benign |
Het |
Tmprss6 |
T |
C |
15: 78,326,634 (GRCm39) |
D1G |
probably null |
Het |
Ttn |
T |
C |
2: 76,582,770 (GRCm39) |
T22708A |
probably damaging |
Het |
Ubtf |
T |
C |
11: 102,199,710 (GRCm39) |
|
probably benign |
Het |
Vwc2l |
T |
C |
1: 70,768,070 (GRCm39) |
F45L |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,939,195 (GRCm39) |
T154A |
probably benign |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
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 |
|
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 |
2013-06-21 |