Incidental Mutation 'R9642:Vps35l'
| ID |
726070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35l
|
| Ensembl Gene |
ENSMUSG00000030982 |
| Gene Name |
VPS35 endosomal protein sorting factor like |
| Synonyms |
9030624J02Rik, Vsp35l |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R9642 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118437451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 909
(D909E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033280]
[ENSMUST00000059390]
[ENSMUST00000063607]
[ENSMUST00000106550]
[ENSMUST00000106552]
[ENSMUST00000106553]
[ENSMUST00000116280]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033280
AA Change: D646E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059390
AA Change: D909E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: D909E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063607
|
| SMART Domains |
Protein: ENSMUSP00000068142
Gene: ENSMUSG00000030980
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
186 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
251 |
6.9e-7 |
PROSPERO |
|
internal_repeat_1
|
255 |
267 |
6.9e-7 |
PROSPERO |
|
Pfam:SMAP
|
273 |
347 |
3.7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106550
|
| SMART Domains |
Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
186 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
216 |
228 |
4.11e-7 |
PROSPERO |
|
internal_repeat_1
|
232 |
244 |
4.11e-7 |
PROSPERO |
|
Pfam:SMAP
|
250 |
324 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106552
AA Change: D792E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: D792E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: D858E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116280
|
| SMART Domains |
Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
401 |
413 |
1.29e-7 |
PROSPERO |
|
internal_repeat_1
|
417 |
429 |
1.29e-7 |
PROSPERO |
|
Pfam:SMAP
|
436 |
509 |
7e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,619,412 (GRCm39) |
|
probably null |
Het |
| Aadacl3 |
A |
G |
4: 144,182,512 (GRCm39) |
S319P |
probably benign |
Het |
| Abcc6 |
C |
A |
7: 45,639,765 (GRCm39) |
D907Y |
probably benign |
Het |
| Apol7b |
T |
C |
15: 77,308,103 (GRCm39) |
S131G |
probably benign |
Het |
| Atg2a |
C |
T |
19: 6,300,198 (GRCm39) |
R669* |
probably null |
Het |
| Atr |
T |
A |
9: 95,821,294 (GRCm39) |
I2260N |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,395,198 (GRCm39) |
V643E |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,392,627 (GRCm39) |
I524V |
possibly damaging |
Het |
| Ccdc171 |
C |
A |
4: 83,599,525 (GRCm39) |
A780E |
probably benign |
Het |
| Cdcp3 |
C |
A |
7: 130,848,257 (GRCm39) |
Q688K |
probably benign |
Het |
| Cfhr2 |
A |
G |
1: 139,738,620 (GRCm39) |
S314P |
probably damaging |
Het |
| Cops2 |
A |
T |
2: 125,682,410 (GRCm39) |
D190E |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,013,825 (GRCm39) |
G1538R |
probably damaging |
Het |
| Dyrk4 |
A |
T |
6: 126,893,253 (GRCm39) |
V43E |
probably benign |
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,350 (GRCm39) |
R76G |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,188,115 (GRCm39) |
I13T |
possibly damaging |
Het |
| Eya3 |
A |
T |
4: 132,426,374 (GRCm39) |
I268F |
probably damaging |
Het |
| Ezh2 |
A |
C |
6: 47,521,453 (GRCm39) |
M439R |
probably benign |
Het |
| Fam83c |
T |
C |
2: 155,672,980 (GRCm39) |
N259S |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,258,707 (GRCm39) |
M963L |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,355,469 (GRCm39) |
D271E |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gtse1 |
T |
A |
15: 85,751,697 (GRCm39) |
L297I |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,515,394 (GRCm39) |
H246L |
probably damaging |
Het |
| Hmox1 |
G |
A |
8: 75,823,881 (GRCm39) |
R183H |
possibly damaging |
Het |
| Ifi202b |
A |
T |
1: 173,799,850 (GRCm39) |
Y210* |
probably null |
Het |
| Ighv1-76 |
A |
T |
12: 115,811,918 (GRCm39) |
I6N |
possibly damaging |
Het |
| Ildr1 |
T |
A |
16: 36,536,490 (GRCm39) |
I173N |
probably damaging |
Het |
| Jaml |
T |
C |
9: 45,000,116 (GRCm39) |
V138A |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,283,340 (GRCm39) |
|
probably null |
Het |
| Krt87 |
T |
C |
15: 101,385,074 (GRCm39) |
N341D |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,272,181 (GRCm39) |
W770R |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,170,966 (GRCm39) |
I667T |
probably damaging |
Het |
| Mdp1 |
T |
C |
14: 55,896,933 (GRCm39) |
T71A |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,349,601 (GRCm39) |
T505S |
possibly damaging |
Het |
| Mx1 |
A |
G |
16: 97,256,376 (GRCm39) |
V181A |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,772,335 (GRCm39) |
E83G |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,418,251 (GRCm39) |
I769L |
probably benign |
Het |
| Notum |
T |
C |
11: 120,550,980 (GRCm39) |
D62G |
probably damaging |
Het |
| Or4c124 |
A |
T |
2: 89,155,907 (GRCm39) |
C206S |
possibly damaging |
Het |
| Or5ac22 |
A |
T |
16: 59,135,610 (GRCm39) |
H53Q |
possibly damaging |
Het |
| Or7a39 |
C |
T |
10: 78,715,395 (GRCm39) |
P130S |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,857 (GRCm39) |
S254P |
probably damaging |
Het |
| P2rx2 |
A |
G |
5: 110,489,878 (GRCm39) |
S196P |
possibly damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,876,717 (GRCm39) |
I91F |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,167,205 (GRCm39) |
V241A |
probably benign |
Het |
| Ppl |
C |
A |
16: 4,915,602 (GRCm39) |
R623S |
probably benign |
Het |
| Prkaca |
A |
G |
8: 84,717,088 (GRCm39) |
I151V |
probably benign |
Het |
| Psmb11 |
A |
T |
14: 54,863,295 (GRCm39) |
Q171L |
probably benign |
Het |
| Rab3gap2 |
T |
G |
1: 184,967,692 (GRCm39) |
F166V |
probably benign |
Het |
| Rab7 |
G |
A |
6: 87,981,187 (GRCm39) |
A165V |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,318,907 (GRCm39) |
Y2473H |
probably damaging |
Het |
| Runx3 |
A |
G |
4: 134,848,341 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5l |
T |
A |
11: 58,237,085 (GRCm39) |
C347* |
probably null |
Het |
| Smc5 |
A |
G |
19: 23,238,752 (GRCm39) |
M208T |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,510,899 (GRCm39) |
|
probably null |
Het |
| Tas2r136 |
A |
T |
6: 132,754,462 (GRCm39) |
C222S |
probably benign |
Het |
| Themis2 |
A |
G |
4: 132,513,047 (GRCm39) |
V393A |
possibly damaging |
Het |
| Tln2 |
A |
C |
9: 67,157,826 (GRCm39) |
V1171G |
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,776,393 (GRCm39) |
F68L |
probably damaging |
Het |
| Tpst1 |
T |
A |
5: 130,130,959 (GRCm39) |
L143Q |
probably damaging |
Het |
| Trp63 |
C |
A |
16: 25,682,508 (GRCm39) |
Q284K |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,194,735 (GRCm39) |
E546G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,804,570 (GRCm39) |
I234T |
unknown |
Het |
| Upp1 |
A |
G |
11: 9,085,206 (GRCm39) |
K231R |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,285,967 (GRCm39) |
L4H |
probably damaging |
Het |
| Vmn1r9 |
T |
A |
6: 57,048,216 (GRCm39) |
L97Q |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,580,661 (GRCm39) |
C533R |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,072,694 (GRCm39) |
|
probably null |
Het |
| Ydjc |
A |
G |
16: 16,966,073 (GRCm39) |
H219R |
probably benign |
Het |
| Ykt6 |
T |
C |
11: 5,905,917 (GRCm39) |
L6P |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,622,384 (GRCm39) |
V1682A |
probably benign |
Het |
| Zfp35 |
C |
T |
18: 24,137,155 (GRCm39) |
Q500* |
probably null |
Het |
| Zfp780b |
T |
A |
7: 27,664,135 (GRCm39) |
D140V |
probably benign |
Het |
| Zyg11b |
T |
C |
4: 108,117,185 (GRCm39) |
T352A |
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 |
|
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 |
|
|
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'- CAAAGCGTGTGGGTCATCTTG -3'
(R):5'- CTGAATGAGCTGAAACTGGGTG -3'
Sequencing Primer
(F):5'- GGTCATCTTGGCCCATAAACC -3'
(R):5'- GCTGAAACTGGGTGTCGAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation