Incidental Mutation 'R3910:Vps35l'
ID |
309342 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vps35l
|
Ensembl Gene |
ENSMUSG00000030982 |
Gene Name |
VPS35 endosomal protein sorting factor like |
Synonyms |
9030624J02Rik, Vsp35l |
MMRRC Submission |
040815-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R3910 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118345613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 49
(T49A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059390]
[ENSMUST00000106552]
[ENSMUST00000106553]
[ENSMUST00000175922]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059390
AA Change: T73A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000051263 Gene: ENSMUSG00000030982 AA Change: T73A
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106552
AA Change: T49A
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102162 Gene: ENSMUSG00000030982 AA Change: T49A
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106553
AA Change: T49A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102163 Gene: ENSMUSG00000030982 AA Change: T49A
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 |
probably benign
Transcript: ENSMUST00000175922
AA Change: T44A
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000134956 Gene: ENSMUSG00000030982 AA Change: T44A
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
71 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0760 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
T |
C |
18: 20,399,253 (GRCm39) |
V119A |
possibly damaging |
Het |
Fap |
A |
G |
2: 62,386,448 (GRCm39) |
S58P |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,459,426 (GRCm39) |
T2509S |
probably damaging |
Het |
Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
Gm7104 |
C |
T |
12: 88,251,364 (GRCm39) |
|
noncoding transcript |
Het |
Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
Lgr5 |
A |
G |
10: 115,423,368 (GRCm39) |
S11P |
possibly damaging |
Het |
Mycn |
T |
A |
12: 12,987,281 (GRCm39) |
N372I |
probably damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
Or9a2 |
A |
G |
6: 41,749,083 (GRCm39) |
V50A |
probably benign |
Het |
Paxbp1 |
T |
A |
16: 90,839,569 (GRCm39) |
E117V |
probably damaging |
Het |
Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
Robo3 |
A |
T |
9: 37,330,591 (GRCm39) |
Y1002N |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,145,156 (GRCm39) |
|
probably null |
Het |
Thsd7a |
A |
G |
6: 12,331,548 (GRCm39) |
V1342A |
probably damaging |
Het |
Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
Ugt1a8 |
A |
G |
1: 88,015,770 (GRCm39) |
E61G |
possibly damaging |
Het |
Vmn1r75 |
A |
T |
7: 11,614,757 (GRCm39) |
N163I |
possibly damaging |
Het |
Zfp119a |
G |
A |
17: 56,173,520 (GRCm39) |
L108F |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGATACTGGGTCATGCC -3'
(R):5'- GGTGAAACTTCAAACCTCCATC -3'
Sequencing Primer
(F):5'- GGGTCATGCCAGTTTTTCACAGAAC -3'
(R):5'- ACCCACAAGGCCTGCTG -3'
|
Posted On |
2015-04-17 |