Incidental Mutation 'R3911:Vps35l'
| ID |
309394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35l
|
| Ensembl Gene |
ENSMUSG00000030982 |
| Gene Name |
VPS35 endosomal protein sorting factor like |
| Synonyms |
9030624J02Rik, Vsp35l |
| MMRRC Submission |
040909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R3911 (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: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
A |
5: 124,227,909 (GRCm39) |
I111F |
probably benign |
Het |
| Abcc12 |
A |
C |
8: 87,255,048 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
G |
T |
17: 57,754,860 (GRCm39) |
V653L |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,593,707 (GRCm39) |
D230E |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
| Casp8 |
A |
T |
1: 58,872,864 (GRCm39) |
S267C |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
| Cd2ap |
T |
A |
17: 43,126,980 (GRCm39) |
|
probably null |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,728,897 (GRCm39) |
E1155D |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,866,375 (GRCm39) |
E841G |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,010,061 (GRCm39) |
R245H |
probably damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,380,842 (GRCm39) |
S128T |
probably benign |
Het |
| Dhrs11 |
A |
T |
11: 84,712,579 (GRCm39) |
I196N |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Edc3 |
A |
T |
9: 57,655,686 (GRCm39) |
I479F |
possibly damaging |
Het |
| Emg1 |
T |
A |
6: 124,682,009 (GRCm39) |
M172L |
probably benign |
Het |
| Epha7 |
G |
A |
4: 28,938,680 (GRCm39) |
V512I |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,197,731 (GRCm39) |
D27G |
probably benign |
Het |
| Fasl |
C |
A |
1: 161,615,760 (GRCm39) |
C32F |
probably benign |
Het |
| Flg |
A |
T |
3: 93,187,307 (GRCm39) |
H253L |
probably benign |
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 |
| Gm17067 |
T |
A |
7: 42,360,104 (GRCm39) |
I43L |
possibly damaging |
Het |
| Gpld1 |
A |
G |
13: 25,146,305 (GRCm39) |
Y183C |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,516,392 (GRCm39) |
P327T |
probably benign |
Het |
| Hepacam2 |
A |
G |
6: 3,494,477 (GRCm39) |
M1T |
probably null |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
A |
12: 119,131,740 (GRCm39) |
E635V |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,245,982 (GRCm39) |
V469A |
probably damaging |
Het |
| Kcnj15 |
C |
T |
16: 95,097,329 (GRCm39) |
T317I |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
T |
9: 110,265,151 (GRCm39) |
L285Q |
probably damaging |
Het |
| Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
| Krtap4-8 |
A |
T |
11: 99,670,863 (GRCm39) |
C203S |
unknown |
Het |
| Lsp1 |
C |
T |
7: 142,040,098 (GRCm39) |
S75F |
probably damaging |
Het |
| Map1b |
A |
G |
13: 99,567,580 (GRCm39) |
S1714P |
unknown |
Het |
| Mcm2 |
A |
G |
6: 88,865,234 (GRCm39) |
I481T |
probably damaging |
Het |
| Mcpt9 |
T |
C |
14: 56,265,136 (GRCm39) |
T122A |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,422,465 (GRCm39) |
R947W |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,586,616 (GRCm39) |
N10Y |
possibly damaging |
Het |
| Pank4 |
A |
G |
4: 155,054,058 (GRCm39) |
Y79C |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,670,171 (GRCm39) |
N386K |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,022,928 (GRCm39) |
M362V |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
| Pou4f1 |
C |
T |
14: 104,703,611 (GRCm39) |
A274T |
unknown |
Het |
| Proc |
A |
G |
18: 32,256,758 (GRCm39) |
L303P |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,517 (GRCm39) |
G821D |
possibly damaging |
Het |
| Rlim |
T |
C |
X: 103,006,267 (GRCm39) |
T545A |
probably benign |
Het |
| Serpinb6c |
T |
C |
13: 34,077,888 (GRCm39) |
N161D |
probably benign |
Het |
| Sf3b1 |
G |
A |
1: 55,058,548 (GRCm39) |
Q14* |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,014,534 (GRCm39) |
V442M |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,185,097 (GRCm39) |
I140V |
probably benign |
Het |
| Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
| Strap |
T |
G |
6: 137,712,380 (GRCm39) |
C10G |
probably damaging |
Het |
| Tcf7 |
C |
A |
11: 52,173,793 (GRCm39) |
|
probably benign |
Het |
| Tmem114 |
A |
T |
16: 8,230,054 (GRCm39) |
M116K |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,988,884 (GRCm39) |
S113P |
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 |
| Tns2 |
T |
C |
15: 102,022,272 (GRCm39) |
|
probably null |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,132,151 (GRCm39) |
V791D |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,614,635 (GRCm39) |
F785S |
possibly damaging |
Het |
| Wdr35 |
A |
T |
12: 9,036,077 (GRCm39) |
I283F |
probably benign |
Het |
| Wnt10b |
G |
T |
15: 98,672,219 (GRCm39) |
A166E |
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 |
|
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 |
Incidental Mutation