Incidental Mutation 'R2038:Vps35l'
| ID |
225301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35l
|
| Ensembl Gene |
ENSMUSG00000030982 |
| Gene Name |
VPS35 endosomal protein sorting factor like |
| Synonyms |
9030624J02Rik, Vsp35l |
| MMRRC Submission |
040045-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R2038 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118411097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 677
(F677L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000033280
AA Change: F465L
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059390
AA Change: F728L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: F728L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000106553
AA Change: F677L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: F677L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149749
AA Change: F155L
|
| SMART Domains |
Protein: ENSMUSP00000121323
Gene: ENSMUSG00000030982
AA Change: F155L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps35
|
2 |
198 |
7.3e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176197
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,389,762 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adgrf4 |
A |
T |
17: 42,978,754 (GRCm39) |
H196Q |
probably damaging |
Het |
| Astn1 |
T |
G |
1: 158,484,690 (GRCm39) |
S918A |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,598,782 (GRCm39) |
K110N |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,633,114 (GRCm39) |
Q105* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,775 (GRCm39) |
G168R |
probably damaging |
Het |
| Col8a2 |
T |
C |
4: 126,205,108 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
G |
A |
2: 166,875,675 (GRCm39) |
E669K |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,977,255 (GRCm39) |
I2898F |
probably damaging |
Het |
| Dus2 |
T |
C |
8: 106,775,294 (GRCm39) |
Y274H |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,967,226 (GRCm39) |
S4073P |
probably damaging |
Het |
| Dynlrb2 |
G |
A |
8: 117,241,549 (GRCm39) |
R31Q |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,351,868 (GRCm39) |
L1119Q |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,430,317 (GRCm39) |
K212E |
probably benign |
Het |
| H60b |
A |
T |
10: 22,162,114 (GRCm39) |
N113I |
probably benign |
Het |
| Hace1 |
A |
C |
10: 45,576,721 (GRCm39) |
K798Q |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,696,151 (GRCm39) |
R631H |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,190,928 (GRCm39) |
I153F |
probably benign |
Het |
| Lman1 |
T |
C |
18: 66,131,681 (GRCm39) |
T101A |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,110,893 (GRCm39) |
C245* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,431 (GRCm39) |
W969R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,135,853 (GRCm39) |
D26V |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,265,016 (GRCm39) |
V53A |
probably benign |
Het |
| Msl2 |
C |
A |
9: 100,979,183 (GRCm39) |
A519D |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,245,503 (GRCm39) |
S176G |
probably benign |
Het |
| Ninl |
T |
A |
2: 150,817,763 (GRCm39) |
K134* |
probably null |
Het |
| Or10d1 |
A |
G |
9: 39,484,283 (GRCm39) |
S91P |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,239 (GRCm39) |
Y278N |
probably damaging |
Het |
| Or4a68 |
C |
A |
2: 89,269,689 (GRCm39) |
M311I |
probably benign |
Het |
| Pabpn1 |
T |
G |
14: 55,134,609 (GRCm39) |
I250S |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,539 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,025 (GRCm39) |
S316P |
possibly damaging |
Het |
| Scn7a |
C |
A |
2: 66,567,780 (GRCm39) |
W271C |
probably damaging |
Het |
| Set |
T |
C |
2: 29,960,212 (GRCm39) |
S182P |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,620,618 (GRCm39) |
T321A |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,295 (GRCm39) |
H29L |
unknown |
Het |
| Slc33a1 |
A |
G |
3: 63,855,577 (GRCm39) |
L356P |
probably damaging |
Het |
| Sptbn1 |
C |
G |
11: 30,109,293 (GRCm39) |
|
probably null |
Het |
| Srrd |
C |
T |
5: 112,486,316 (GRCm39) |
G179D |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,456 (GRCm39) |
S312P |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,093,794 (GRCm39) |
L566* |
probably null |
Het |
| Tln2 |
T |
A |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,163,497 (GRCm39) |
F702L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,637 (GRCm39) |
G419R |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,884,887 (GRCm39) |
S3187G |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,907,685 (GRCm39) |
|
probably null |
Het |
| Zfp568 |
A |
T |
7: 29,688,507 (GRCm39) |
E23V |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTTCAGTGTCCAGGGAC -3'
(R):5'- GCTGATTAGCCCATCAATTCC -3'
Sequencing Primer
(F):5'- CCTGCTTAGCCTCAGTGTGTG -3'
(R):5'- CATGGTACATTTAGCTCTCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation