Incidental Mutation 'R6089:Vps35l'
| ID |
484654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35l
|
| Ensembl Gene |
ENSMUSG00000030982 |
| Gene Name |
VPS35 endosomal protein sorting factor like |
| Synonyms |
9030624J02Rik, Vsp35l |
| MMRRC Submission |
044246-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R6089 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 118345658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 59
(S59A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059390]
[ENSMUST00000106552]
[ENSMUST00000106553]
[ENSMUST00000175922]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059390
AA Change: S88A
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: S88A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106552
AA Change: S64A
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: S64A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106553
AA Change: S64A
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: S64A
| 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: ENSMUST00000136623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148586
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175922
AA Change: S59A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134956
Gene: ENSMUSG00000030982
AA Change: S59A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
71 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
G |
1: 125,335,132 (GRCm39) |
V95A |
probably damaging |
Het |
| Ankrd40 |
A |
T |
11: 94,224,751 (GRCm39) |
K53N |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,960,450 (GRCm39) |
Q2338* |
probably null |
Het |
| Astn2 |
A |
G |
4: 65,712,810 (GRCm39) |
F610S |
probably damaging |
Het |
| Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
C |
T |
5: 107,654,895 (GRCm39) |
A386V |
probably damaging |
Het |
| Calm4 |
A |
T |
13: 3,887,874 (GRCm39) |
|
probably benign |
Het |
| Card10 |
T |
C |
15: 78,686,614 (GRCm39) |
T68A |
probably benign |
Het |
| Cars2 |
A |
G |
8: 11,580,301 (GRCm39) |
M245T |
probably damaging |
Het |
| Cat |
C |
A |
2: 103,303,296 (GRCm39) |
L160F |
probably null |
Het |
| Cers5 |
G |
T |
15: 99,638,883 (GRCm39) |
T144K |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,908,215 (GRCm39) |
L211F |
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,321 (GRCm39) |
R63* |
probably null |
Het |
| Dnah14 |
G |
T |
1: 181,577,719 (GRCm39) |
W3012L |
probably damaging |
Het |
| Dusp18 |
A |
G |
11: 3,847,555 (GRCm39) |
T182A |
probably benign |
Het |
| Dzip1l |
C |
A |
9: 99,524,737 (GRCm39) |
T286K |
possibly damaging |
Het |
| Eif2ak3 |
A |
T |
6: 70,873,918 (GRCm39) |
T944S |
possibly damaging |
Het |
| Fbn1 |
A |
T |
2: 125,163,145 (GRCm39) |
I2119N |
possibly damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,846,448 (GRCm39) |
S154P |
probably damaging |
Het |
| Gm15440 |
A |
T |
13: 51,845,437 (GRCm39) |
H107Q |
unknown |
Het |
| Grm2 |
G |
A |
9: 106,531,090 (GRCm39) |
P133L |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,228,285 (GRCm39) |
V61A |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,591,198 (GRCm39) |
T23A |
probably benign |
Het |
| Helz |
A |
T |
11: 107,485,963 (GRCm39) |
|
probably null |
Het |
| Herc1 |
A |
C |
9: 66,352,814 (GRCm39) |
H2100P |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ifngr1 |
T |
C |
10: 19,482,048 (GRCm39) |
S213P |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,125,721 (GRCm39) |
D636G |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,730,760 (GRCm39) |
D491N |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,554,548 (GRCm39) |
L3915P |
unknown |
Het |
| Myh1 |
T |
A |
11: 67,092,993 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
G |
11: 67,111,613 (GRCm39) |
|
probably null |
Het |
| Myh7b |
C |
T |
2: 155,464,409 (GRCm39) |
T608M |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,955,508 (GRCm39) |
K23E |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,331 (GRCm39) |
V620A |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,809,542 (GRCm39) |
Y1121H |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,551 (GRCm39) |
F207L |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
| Pigg |
A |
T |
5: 108,489,788 (GRCm39) |
M798L |
probably benign |
Het |
| Poc5 |
G |
T |
13: 96,533,179 (GRCm39) |
M102I |
probably damaging |
Het |
| Ppp2r3d |
T |
A |
9: 101,088,835 (GRCm39) |
Q496L |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,068,281 (GRCm39) |
Y1752H |
probably damaging |
Het |
| Ptpru |
G |
C |
4: 131,499,941 (GRCm39) |
S1244R |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,307,385 (GRCm39) |
K682E |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,816,041 (GRCm39) |
D170G |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,406 (GRCm39) |
D478G |
possibly damaging |
Het |
| Scai |
A |
T |
2: 38,973,566 (GRCm39) |
Y58* |
probably null |
Het |
| Simc1 |
G |
A |
13: 54,676,303 (GRCm39) |
V1007M |
probably benign |
Het |
| Tcf20 |
G |
T |
15: 82,737,409 (GRCm39) |
D1347E |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,870,035 (GRCm39) |
Y279C |
probably damaging |
Het |
| Trdn |
C |
T |
10: 33,340,571 (GRCm39) |
P602S |
probably benign |
Het |
| Txndc5 |
A |
T |
13: 38,707,392 (GRCm39) |
M1K |
probably null |
Het |
| Ubr2 |
A |
C |
17: 47,293,218 (GRCm39) |
M356R |
possibly damaging |
Het |
| Uqcrc2 |
A |
T |
7: 120,253,232 (GRCm39) |
D332V |
probably damaging |
Het |
| Usp48 |
T |
C |
4: 137,333,129 (GRCm39) |
F108L |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,886,867 (GRCm39) |
N4S |
probably benign |
Het |
| Vmn1r11 |
T |
C |
6: 57,114,645 (GRCm39) |
V103A |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,336 (GRCm39) |
D278G |
probably benign |
Het |
| Wfdc15a |
A |
T |
2: 164,041,586 (GRCm39) |
L79* |
probably null |
Het |
| Xxylt1 |
C |
T |
16: 30,899,799 (GRCm39) |
V119M |
probably damaging |
Het |
| Zfp26 |
G |
T |
9: 20,348,989 (GRCm39) |
A525D |
probably damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,389,642 (GRCm39) |
G396D |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,948,889 (GRCm39) |
D148G |
possibly damaging |
Het |
| Zscan26 |
G |
T |
13: 21,632,499 (GRCm39) |
S77R |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAGCATCGCCTCTGCCAC -3'
(R):5'- TCTCACAATCAGGATGCCCC -3'
Sequencing Primer
(F):5'- TCTGCCACAAATGACTGGTCAG -3'
(R):5'- TGCCCCAATGCATTATGGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation