Incidental Mutation 'R4980:Vps35l'
| ID |
384747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35l
|
| Ensembl Gene |
ENSMUSG00000030982 |
| Gene Name |
VPS35 endosomal protein sorting factor like |
| Synonyms |
9030624J02Rik, Vsp35l |
| MMRRC Submission |
042575-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R4980 (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 A
at 118406232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 605
(D605E)
|
| 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: D393E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059390
AA Change: D656E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: D656E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106552
AA Change: D565E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: D565E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106553
AA Change: D605E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: D605E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149749
AA Change: D116E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000121323
Gene: ENSMUSG00000030982
AA Change: D116E
| 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: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,292 (GRCm39) |
C189S |
probably damaging |
Het |
| Abcd3 |
A |
T |
3: 121,562,917 (GRCm39) |
|
probably null |
Het |
| Adar |
T |
C |
3: 89,638,121 (GRCm39) |
S2P |
probably benign |
Het |
| Amhr2 |
T |
A |
15: 102,362,765 (GRCm39) |
S511T |
probably benign |
Het |
| Atg16l1 |
T |
C |
1: 87,694,553 (GRCm39) |
S77P |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 36,997,461 (GRCm39) |
S1173P |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,232,650 (GRCm39) |
F218L |
probably damaging |
Het |
| Cd5l |
A |
T |
3: 87,274,908 (GRCm39) |
H149L |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,186,506 (GRCm39) |
R92* |
probably null |
Het |
| Col19a1 |
T |
C |
1: 24,565,564 (GRCm39) |
T256A |
unknown |
Het |
| Col22a1 |
C |
T |
15: 71,673,792 (GRCm39) |
A975T |
unknown |
Het |
| Cracd |
A |
T |
5: 77,005,421 (GRCm39) |
D594V |
unknown |
Het |
| Cyp20a1 |
T |
C |
1: 60,402,373 (GRCm39) |
W153R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpyd |
T |
C |
3: 118,710,767 (GRCm39) |
S392P |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,295,369 (GRCm39) |
L957F |
probably damaging |
Het |
| Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
| Fbn2 |
T |
C |
18: 58,143,703 (GRCm39) |
E2784G |
probably benign |
Het |
| Fbxw10 |
T |
C |
11: 62,738,583 (GRCm39) |
I159T |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,802,810 (GRCm39) |
Y192C |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,736,198 (GRCm39) |
|
probably null |
Het |
| Igf2r |
C |
T |
17: 12,922,247 (GRCm39) |
|
probably null |
Het |
| Ints4 |
T |
C |
7: 97,151,057 (GRCm39) |
|
probably null |
Het |
| Kcnf1 |
A |
G |
12: 17,225,012 (GRCm39) |
F403S |
possibly damaging |
Het |
| Kif11 |
C |
T |
19: 37,375,819 (GRCm39) |
Q211* |
probably null |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Kifc3 |
T |
A |
8: 95,853,177 (GRCm39) |
T60S |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,453,534 (GRCm39) |
D284G |
possibly damaging |
Het |
| Lancl1 |
T |
C |
1: 67,043,968 (GRCm39) |
Y344C |
probably benign |
Het |
| Ltbp3 |
A |
T |
19: 5,803,955 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
G |
17: 12,490,958 (GRCm39) |
F158L |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,174,948 (GRCm39) |
Y469H |
probably damaging |
Het |
| Mcf2l |
T |
G |
8: 13,034,883 (GRCm39) |
F97C |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,438,904 (GRCm39) |
S121P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,497,821 (GRCm39) |
|
probably null |
Het |
| Myt1l |
A |
T |
12: 29,877,038 (GRCm39) |
T230S |
unknown |
Het |
| Naa15 |
T |
C |
3: 51,366,173 (GRCm39) |
|
probably null |
Het |
| Nans |
G |
A |
4: 46,492,764 (GRCm39) |
R64Q |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,554,772 (GRCm39) |
|
probably null |
Het |
| Nbea |
T |
C |
3: 55,860,466 (GRCm39) |
E1870G |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,974,591 (GRCm39) |
S688P |
probably damaging |
Het |
| Nedd4l |
G |
T |
18: 65,213,131 (GRCm39) |
E96* |
probably null |
Het |
| Or56a5 |
T |
A |
7: 104,793,431 (GRCm39) |
Y23F |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,384 (GRCm39) |
M82L |
probably benign |
Het |
| Pdxk |
A |
G |
10: 78,287,318 (GRCm39) |
L81P |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,077,495 (GRCm39) |
R269* |
probably null |
Het |
| Plec |
T |
C |
15: 76,090,065 (GRCm39) |
I92V |
probably damaging |
Het |
| Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
| Ppp2r2c |
A |
T |
5: 37,109,732 (GRCm39) |
M364L |
probably benign |
Het |
| Prag1 |
A |
C |
8: 36,606,740 (GRCm39) |
H827P |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,421 (GRCm38) |
N714S |
probably benign |
Het |
| Rbp2 |
G |
A |
9: 98,380,894 (GRCm39) |
V67I |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,811,141 (GRCm39) |
Y835N |
probably damaging |
Het |
| Ripply2 |
A |
G |
9: 86,901,747 (GRCm39) |
Q91R |
probably damaging |
Het |
| Sap130 |
C |
A |
18: 31,782,699 (GRCm39) |
H203Q |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,865,270 (GRCm39) |
Y358C |
probably damaging |
Het |
| Serbp1 |
G |
A |
6: 67,254,872 (GRCm39) |
D294N |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,956,801 (GRCm39) |
W113R |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,703,041 (GRCm39) |
Y138C |
probably damaging |
Het |
| Spag11a |
T |
C |
8: 19,207,962 (GRCm39) |
M1T |
probably null |
Het |
| Spata20 |
T |
C |
11: 94,375,435 (GRCm39) |
M120V |
probably damaging |
Het |
| Stk32a |
A |
C |
18: 43,447,113 (GRCm39) |
K357Q |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,183,382 (GRCm39) |
L614I |
probably benign |
Het |
| Trmo |
A |
T |
4: 46,389,364 (GRCm39) |
C10* |
probably null |
Het |
| Tsc22d1 |
T |
G |
14: 76,655,696 (GRCm39) |
V643G |
probably benign |
Het |
| Vangl2 |
A |
T |
1: 171,837,132 (GRCm39) |
L226I |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,140,626 (GRCm39) |
C297S |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,778,930 (GRCm39) |
K301E |
possibly damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,464,039 (GRCm39) |
T1399I |
possibly damaging |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (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 |
|
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 |
|
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'- AGACATTTGGATTGTGTTCCCTC -3'
(R):5'- GGGAGCCTTGGCAAACATTTC -3'
Sequencing Primer
(F):5'- GGATTGTGTTCCCTCTGGTTAACAC -3'
(R):5'- GGAGCCTTGGCAAACATTTCTAATTC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation