Incidental Mutation 'R6415:Vps35l'
| ID |
517864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35l
|
| Ensembl Gene |
ENSMUSG00000030982 |
| Gene Name |
VPS35 endosomal protein sorting factor like |
| Synonyms |
9030624J02Rik, Vsp35l |
| MMRRC Submission |
044557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R6415 (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 C
at 118391869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 494
(W494R)
|
| 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: W255R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059390
AA Change: W518R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: W518R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106552
AA Change: W427R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: W427R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106553
AA Change: W494R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: W494R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,881,296 (GRCm39) |
T482M |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,468,498 (GRCm39) |
Y513H |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,222,540 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,588,759 (GRCm39) |
D326G |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,354,243 (GRCm39) |
I224T |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,309,612 (GRCm39) |
I402M |
probably benign |
Het |
| Cckar |
A |
T |
5: 53,860,398 (GRCm39) |
C73S |
probably damaging |
Het |
| Cdk13 |
C |
T |
13: 17,913,739 (GRCm39) |
R880H |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,830,986 (GRCm39) |
N218D |
unknown |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,130 (GRCm39) |
I145T |
possibly damaging |
Het |
| Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,831,365 (GRCm39) |
F483L |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,436,939 (GRCm39) |
D963G |
probably benign |
Het |
| Dhx8 |
G |
T |
11: 101,628,513 (GRCm39) |
A142S |
unknown |
Het |
| Dock7 |
C |
T |
4: 98,880,685 (GRCm39) |
R926Q |
probably damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,594,975 (GRCm39) |
Q693* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,117,024 (GRCm39) |
C1234Y |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,089,102 (GRCm39) |
|
probably null |
Het |
| Fam91a1 |
T |
C |
15: 58,314,766 (GRCm39) |
L549P |
probably damaging |
Het |
| Fxyd2 |
T |
A |
9: 45,314,592 (GRCm39) |
Y5N |
possibly damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gpr182 |
T |
A |
10: 127,586,375 (GRCm39) |
D192V |
possibly damaging |
Het |
| Gps1 |
T |
C |
11: 120,678,548 (GRCm39) |
V286A |
possibly damaging |
Het |
| Grk1 |
A |
G |
8: 13,463,127 (GRCm39) |
Y383C |
probably damaging |
Het |
| H2bc15 |
T |
C |
13: 21,938,656 (GRCm39) |
Y122H |
probably benign |
Het |
| Hic1 |
G |
A |
11: 75,057,143 (GRCm39) |
P582L |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,607,279 (GRCm39) |
F328L |
probably benign |
Het |
| Lactb |
T |
C |
9: 66,877,927 (GRCm39) |
K301E |
possibly damaging |
Het |
| Lrp3 |
A |
T |
7: 34,903,593 (GRCm39) |
V251E |
probably benign |
Het |
| Mapt |
G |
A |
11: 104,189,824 (GRCm39) |
G265S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,925,956 (GRCm39) |
D6245E |
probably damaging |
Het |
| Or10al2 |
G |
T |
17: 37,983,448 (GRCm39) |
C178F |
possibly damaging |
Het |
| Or1j12 |
A |
G |
2: 36,342,617 (GRCm39) |
S7G |
probably damaging |
Het |
| Or4b1c |
T |
A |
2: 90,126,381 (GRCm39) |
I275F |
probably damaging |
Het |
| Or4c10b |
T |
C |
2: 89,711,206 (GRCm39) |
L12P |
probably damaging |
Het |
| Or6c207 |
T |
C |
10: 129,104,890 (GRCm39) |
T101A |
probably benign |
Het |
| Or7e165 |
T |
A |
9: 19,695,044 (GRCm39) |
I205N |
probably damaging |
Het |
| Or7g19 |
T |
C |
9: 18,856,415 (GRCm39) |
L157P |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,241,904 (GRCm38) |
H288Q |
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 93,253,278 (GRCm39) |
M1128I |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,127,614 (GRCm39) |
Y699H |
probably damaging |
Het |
| Pgk2 |
A |
T |
17: 40,518,459 (GRCm39) |
I323N |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,410,264 (GRCm39) |
V1216A |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,620,176 (GRCm39) |
|
probably benign |
Het |
| Prelp |
A |
T |
1: 133,840,516 (GRCm39) |
I322N |
probably benign |
Het |
| Prelp |
A |
T |
1: 133,842,395 (GRCm39) |
I250N |
probably damaging |
Het |
| Prss27 |
T |
A |
17: 24,261,882 (GRCm39) |
C63* |
probably null |
Het |
| Rab38 |
G |
A |
7: 88,079,748 (GRCm39) |
A47T |
possibly damaging |
Het |
| Rprd2 |
G |
A |
3: 95,681,531 (GRCm39) |
A436V |
probably benign |
Het |
| Sacs |
A |
T |
14: 61,442,808 (GRCm39) |
N1618I |
probably damaging |
Het |
| Scp2 |
T |
G |
4: 107,962,337 (GRCm39) |
S63R |
probably benign |
Het |
| Sftpb |
T |
G |
6: 72,281,633 (GRCm39) |
W9G |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,780,415 (GRCm39) |
L125* |
probably null |
Het |
| Sptlc1 |
T |
C |
13: 53,505,728 (GRCm39) |
|
probably null |
Het |
| Sub1 |
T |
A |
15: 11,986,560 (GRCm39) |
M96L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,667,458 (GRCm39) |
V1233A |
probably benign |
Het |
| Tmem140 |
A |
T |
6: 34,849,658 (GRCm39) |
D58V |
probably damaging |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Tpt1 |
T |
C |
14: 76,083,811 (GRCm39) |
Y91H |
probably benign |
Het |
| Trap1 |
C |
T |
16: 3,861,856 (GRCm39) |
R636H |
possibly damaging |
Het |
| Ttc14 |
A |
G |
3: 33,857,724 (GRCm39) |
H275R |
possibly damaging |
Het |
| Tut7 |
T |
A |
13: 59,964,110 (GRCm39) |
|
probably null |
Het |
| Ypel1 |
A |
G |
16: 16,921,438 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
T |
A |
9: 30,975,510 (GRCm39) |
I380N |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,838,063 (GRCm39) |
F798L |
possibly 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 |
|
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 |
|
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'- AGATGAAATGTTGGAGCCCTCTC -3'
(R):5'- GGGCCTTAGAAACAAAGTATGATTG -3'
Sequencing Primer
(F):5'- GAGCCCTCTCCTTCTCTCTAAG -3'
(R):5'- CAATTGTTGATCTTGCAGAGAGCCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation