Incidental Mutation 'R6017:Vps35l'
| ID |
478643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35l
|
| Ensembl Gene |
ENSMUSG00000030982 |
| Gene Name |
VPS35 endosomal protein sorting factor like |
| Synonyms |
9030624J02Rik, Vsp35l |
| MMRRC Submission |
044191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R6017 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118409144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 635
(V635D)
|
| 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 damaging
Transcript: ENSMUST00000033280
AA Change: V423D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059390
AA Change: V686D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: V686D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106552
AA Change: V595D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: V595D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106553
AA Change: V635D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: V635D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149749
|
| SMART Domains |
Protein: ENSMUSP00000121323
Gene: ENSMUSG00000030982
| 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
|
| Meta Mutation Damage Score |
0.8491 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,325,780 (GRCm39) |
I56M |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,545,542 (GRCm39) |
L5581* |
probably null |
Het |
| Arpc2 |
C |
A |
1: 74,301,645 (GRCm39) |
H193N |
probably benign |
Het |
| B3galt5 |
A |
G |
16: 96,116,384 (GRCm39) |
T6A |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,976,103 (GRCm39) |
V1737E |
probably benign |
Het |
| Cacfd1 |
T |
G |
2: 26,903,440 (GRCm39) |
|
probably benign |
Het |
| Cdc42ep4 |
A |
T |
11: 113,620,192 (GRCm39) |
D66E |
probably benign |
Het |
| Cldn1 |
G |
T |
16: 26,181,969 (GRCm39) |
T80N |
probably damaging |
Het |
| Cmtm1 |
C |
A |
8: 105,037,583 (GRCm39) |
|
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,411,693 (GRCm39) |
I526F |
probably benign |
Het |
| Copb1 |
T |
C |
7: 113,836,032 (GRCm39) |
K450E |
probably benign |
Het |
| Crebrf |
A |
C |
17: 26,976,823 (GRCm39) |
I416L |
probably benign |
Het |
| Csmd3 |
C |
A |
15: 48,177,408 (GRCm39) |
V377F |
possibly damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,588,313 (GRCm39) |
K304E |
probably damaging |
Het |
| Cyp2d26 |
A |
G |
15: 82,674,774 (GRCm39) |
S403P |
possibly damaging |
Het |
| Cyp4a12a |
T |
A |
4: 115,183,476 (GRCm39) |
C198* |
probably null |
Het |
| Ddx11 |
A |
G |
17: 66,437,012 (GRCm39) |
D102G |
|
Het |
| Dpys |
T |
A |
15: 39,710,114 (GRCm39) |
Q105L |
probably null |
Het |
| Dsn1 |
C |
A |
2: 156,838,162 (GRCm39) |
R334L |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,659,054 (GRCm39) |
H867N |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,040,781 (GRCm39) |
L643P |
probably damaging |
Het |
| Fbxo44 |
G |
T |
4: 148,243,010 (GRCm39) |
H83Q |
probably benign |
Het |
| Gm13102 |
T |
C |
4: 143,835,807 (GRCm39) |
Y477H |
possibly damaging |
Het |
| Gm7347 |
T |
C |
5: 26,262,276 (GRCm39) |
T82A |
probably benign |
Het |
| Gss |
C |
A |
2: 155,429,385 (GRCm39) |
A36S |
probably benign |
Het |
| Hepacam |
A |
G |
9: 37,292,056 (GRCm39) |
D128G |
probably benign |
Het |
| Hepacam2 |
C |
A |
6: 3,483,332 (GRCm39) |
V226F |
probably damaging |
Het |
| Hgfac |
T |
C |
5: 35,201,739 (GRCm39) |
Y291H |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,674,466 (GRCm39) |
R88H |
probably benign |
Het |
| Irx5 |
T |
A |
8: 93,084,878 (GRCm39) |
Y23N |
probably damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,082 (GRCm39) |
M380V |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,305,400 (GRCm39) |
|
probably benign |
Het |
| Kcnk12 |
T |
C |
17: 88,054,164 (GRCm39) |
E166G |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,391,996 (GRCm39) |
C195R |
probably damaging |
Het |
| Kif28 |
T |
A |
1: 179,527,018 (GRCm39) |
I718F |
probably benign |
Het |
| Lce1e |
T |
A |
3: 92,615,240 (GRCm39) |
K36* |
probably null |
Het |
| Map4 |
T |
C |
9: 109,863,687 (GRCm39) |
L304P |
probably benign |
Het |
| Mettl17 |
C |
T |
14: 52,129,074 (GRCm39) |
|
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,160,518 (GRCm39) |
D595G |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,732,349 (GRCm39) |
K1282E |
probably damaging |
Het |
| Nf2 |
A |
T |
11: 4,766,137 (GRCm39) |
V131D |
possibly damaging |
Het |
| Or7g35 |
T |
C |
9: 19,496,730 (GRCm39) |
V299A |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,916 (GRCm39) |
M249L |
probably benign |
Het |
| Oxsr1 |
A |
G |
9: 119,093,843 (GRCm39) |
L270S |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,062,309 (GRCm39) |
T536I |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,906,363 (GRCm39) |
V306D |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,837,605 (GRCm39) |
C438Y |
probably benign |
Het |
| Scfd1 |
T |
C |
12: 51,492,461 (GRCm39) |
V590A |
probably damaging |
Het |
| Serpina1b |
A |
G |
12: 103,695,531 (GRCm39) |
S337P |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,946,622 (GRCm39) |
C115S |
unknown |
Het |
| Slc2a7 |
T |
C |
4: 150,249,629 (GRCm39) |
S407P |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,955,683 (GRCm39) |
S452P |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,182,893 (GRCm39) |
D145G |
possibly damaging |
Het |
| Spata6 |
C |
A |
4: 111,632,024 (GRCm39) |
T145K |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,863,501 (GRCm39) |
R2087H |
probably benign |
Het |
| Stk24 |
C |
T |
14: 121,539,657 (GRCm39) |
V180M |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,781,051 (GRCm39) |
T3271A |
probably damaging |
Het |
| Tyro3 |
T |
A |
2: 119,647,147 (GRCm39) |
W755R |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,711 (GRCm39) |
|
probably null |
Het |
| Uts2b |
T |
C |
16: 27,179,793 (GRCm39) |
|
probably null |
Het |
| Vmn2r105 |
T |
A |
17: 20,428,889 (GRCm39) |
H729L |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,999,225 (GRCm39) |
I3068V |
probably benign |
Het |
| Zfp457 |
G |
A |
13: 67,441,763 (GRCm39) |
H175Y |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,592,712 (GRCm39) |
D40G |
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 |
|
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'- TCTACTTGGGAGGAAGGGAC -3'
(R):5'- TCGGAGAATCACAGACTACAAG -3'
Sequencing Primer
(F):5'- AGGAAGGGACATGAGACTTTC -3'
(R):5'- GCCTCAGCTACATAGTGAATTTGAGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation