Incidental Mutation 'R2405:Vps35l'
| ID |
247957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35l
|
| Ensembl Gene |
ENSMUSG00000030982 |
| Gene Name |
VPS35 endosomal protein sorting factor like |
| Synonyms |
9030624J02Rik, Vsp35l |
| MMRRC Submission |
040371-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R2405 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 118391818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 410
(A410P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102162
(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: A238P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059390
AA Change: A501P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: A501P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106552
AA Change: A410P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: A410P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106553
AA Change: A477P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: A477P
| 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 |
|
| Meta Mutation Damage Score |
0.3513 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abl1 |
T |
C |
2: 31,690,986 (GRCm39) |
L835P |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,607,774 (GRCm39) |
V1426D |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,353,480 (GRCm39) |
Y98H |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,770,077 (GRCm39) |
Y255* |
probably null |
Het |
| Cyp2d11 |
C |
T |
15: 82,273,467 (GRCm39) |
S468N |
possibly damaging |
Het |
| Dnah7b |
C |
A |
1: 46,402,114 (GRCm39) |
T3983N |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,882,349 (GRCm39) |
M427K |
probably damaging |
Het |
| Fxr1 |
T |
A |
3: 34,116,003 (GRCm39) |
S438T |
probably damaging |
Het |
| Gabrr1 |
A |
T |
4: 33,157,110 (GRCm39) |
D209V |
probably damaging |
Het |
| Gbx2 |
G |
T |
1: 89,858,630 (GRCm39) |
|
probably benign |
Het |
| Gng14 |
A |
G |
8: 85,794,270 (GRCm39) |
I56T |
possibly damaging |
Het |
| Gulo |
A |
G |
14: 66,228,477 (GRCm39) |
|
probably null |
Het |
| Hhla1 |
A |
T |
15: 65,808,160 (GRCm39) |
L295* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,736,092 (GRCm39) |
I126L |
probably damaging |
Het |
| Hpse |
A |
G |
5: 100,856,637 (GRCm39) |
S121P |
possibly damaging |
Het |
| Inpp5d |
A |
G |
1: 87,627,451 (GRCm39) |
H321R |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,536,754 (GRCm39) |
M658K |
probably damaging |
Het |
| Kidins220 |
A |
T |
12: 25,061,508 (GRCm39) |
E875V |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,511,810 (GRCm39) |
M53V |
unknown |
Het |
| Nlrp4b |
A |
G |
7: 10,448,655 (GRCm39) |
E286G |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Pde3a |
A |
T |
6: 141,426,968 (GRCm39) |
I710F |
probably damaging |
Het |
| Phb1 |
T |
C |
11: 95,566,094 (GRCm39) |
I126T |
probably benign |
Het |
| Ppp4r1 |
C |
T |
17: 66,118,341 (GRCm39) |
T164I |
possibly damaging |
Het |
| Psmc1 |
G |
A |
12: 100,086,362 (GRCm39) |
R333Q |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,662,695 (GRCm39) |
Y554C |
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Serpina3a |
A |
T |
12: 104,087,577 (GRCm39) |
M357L |
possibly damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,444,063 (GRCm39) |
M361K |
probably benign |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc15a2 |
G |
A |
16: 36,572,199 (GRCm39) |
Q691* |
probably null |
Het |
| Slc25a25 |
C |
T |
2: 32,307,731 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,215,523 (GRCm39) |
N9S |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,640,599 (GRCm39) |
T665A |
probably damaging |
Het |
| Spef2 |
C |
A |
15: 9,626,120 (GRCm39) |
E1149* |
probably null |
Het |
| Tmem179 |
A |
G |
12: 112,468,347 (GRCm39) |
W45R |
probably damaging |
Het |
| Tmpo |
C |
A |
10: 90,999,216 (GRCm39) |
K190N |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,583,320 (GRCm39) |
Y427C |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,770,558 (GRCm39) |
L720P |
probably damaging |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,912 (GRCm39) |
Y63H |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,102 (GRCm39) |
C560S |
probably damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,472,478 (GRCm39) |
|
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 |
|
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 |
|
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'- GTGGATCCATACAATCTCAGACAG -3'
(R):5'- AATGCCATTTGATCCCTCTAAATG -3'
Sequencing Primer
(F):5'- ACAGAGGTCTCGGGAAGGTTTC -3'
(R):5'- CAATTGTTGATCTTGCAGAGAGCCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation