Incidental Mutation 'R7339:Vps35l'
| ID |
569709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35l
|
| Ensembl Gene |
ENSMUSG00000030982 |
| Gene Name |
VPS35 endosomal protein sorting factor like |
| Synonyms |
9030624J02Rik, Vsp35l |
| MMRRC Submission |
045429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R7339 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118339401-118440712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118409194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 612
(I612F)
|
| 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: I440F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059390
AA Change: I703F
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: I703F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106552
AA Change: I612F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: I612F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106553
AA Change: I652F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: I652F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176197
|
| Meta Mutation Damage Score |
0.5903 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,330,938 (GRCm39) |
D1092G |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,529 (GRCm39) |
N2271I |
possibly damaging |
Het |
| Amz1 |
A |
G |
5: 140,727,306 (GRCm39) |
S90G |
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,564,481 (GRCm39) |
E484G |
possibly damaging |
Het |
| Arid3c |
A |
G |
4: 41,729,883 (GRCm39) |
|
probably null |
Het |
| Atp1a1 |
T |
C |
3: 101,497,188 (GRCm39) |
I373V |
probably benign |
Het |
| Barhl1 |
T |
C |
2: 28,799,899 (GRCm39) |
E242G |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,163,210 (GRCm39) |
|
probably null |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,036,202 (GRCm39) |
V1488E |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,182,815 (GRCm39) |
Q401H |
probably damaging |
Het |
| Cfap36 |
T |
C |
11: 29,175,925 (GRCm39) |
Y191C |
probably benign |
Het |
| Chmp2b |
G |
A |
16: 65,342,232 (GRCm39) |
Q119* |
probably null |
Het |
| Cps1 |
T |
A |
1: 67,236,174 (GRCm39) |
I969N |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,500,366 (GRCm39) |
F920L |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,594,277 (GRCm39) |
T3410S |
probably benign |
Het |
| Fbxo42 |
T |
G |
4: 140,927,455 (GRCm39) |
S578R |
possibly damaging |
Het |
| Fcgr1 |
C |
T |
3: 96,191,615 (GRCm39) |
G398R |
not run |
Het |
| Foxa3 |
A |
T |
7: 18,748,794 (GRCm39) |
Y111N |
probably damaging |
Het |
| Gabbr2 |
T |
C |
4: 46,846,340 (GRCm39) |
K190E |
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,367,964 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,529,390 (GRCm39) |
I80T |
probably damaging |
Het |
| Kri1 |
T |
G |
9: 21,197,883 (GRCm39) |
Q89P |
|
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Metap1 |
T |
C |
3: 138,171,898 (GRCm39) |
|
probably null |
Het |
| Mkrn3 |
C |
T |
7: 62,069,530 (GRCm39) |
R87H |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myh6 |
T |
C |
14: 55,199,025 (GRCm39) |
|
probably null |
Het |
| Naip6 |
G |
T |
13: 100,452,527 (GRCm39) |
P178Q |
probably damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,378,454 (GRCm39) |
E160G |
probably damaging |
Het |
| Nek6 |
G |
A |
2: 38,450,977 (GRCm39) |
A127T |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,929,297 (GRCm39) |
V264A |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,330,627 (GRCm39) |
I590F |
possibly damaging |
Het |
| Or13j1 |
C |
T |
4: 43,706,080 (GRCm39) |
A163T |
probably benign |
Het |
| Or2y17 |
G |
A |
11: 49,231,875 (GRCm39) |
R172Q |
not run |
Het |
| Or4f57 |
A |
T |
2: 111,790,956 (GRCm39) |
M154K |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,820 (GRCm39) |
L237P |
probably damaging |
Het |
| Or52n4b |
A |
C |
7: 108,144,107 (GRCm39) |
D125A |
probably damaging |
Het |
| Otop3 |
T |
A |
11: 115,237,204 (GRCm39) |
L556Q |
probably damaging |
Het |
| Padi1 |
T |
C |
4: 140,556,545 (GRCm39) |
D190G |
probably null |
Het |
| Pald1 |
T |
C |
10: 61,159,110 (GRCm39) |
S774G |
possibly damaging |
Het |
| Pde10a |
C |
T |
17: 8,975,860 (GRCm39) |
T55I |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,109,459 (GRCm39) |
M197V |
probably benign |
Het |
| Prom1 |
C |
A |
5: 44,258,995 (GRCm39) |
|
probably benign |
Het |
| Ptdss1 |
A |
G |
13: 67,111,426 (GRCm39) |
H164R |
possibly damaging |
Het |
| Rrh |
A |
T |
3: 129,604,262 (GRCm39) |
I313N |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,591 (GRCm39) |
I88T |
probably damaging |
Het |
| Slc38a11 |
C |
T |
2: 65,156,914 (GRCm39) |
V353I |
probably benign |
Het |
| Spata31e3 |
A |
T |
13: 50,401,204 (GRCm39) |
I374N |
possibly damaging |
Het |
| Spdef |
T |
A |
17: 27,939,219 (GRCm39) |
E42D |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,505,624 (GRCm39) |
D129G |
probably benign |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,435 (GRCm39) |
Y68F |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,480,015 (GRCm39) |
S238P |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,066,950 (GRCm39) |
D592G |
probably benign |
Het |
| Ttll5 |
T |
C |
12: 85,904,238 (GRCm39) |
|
probably null |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,258,306 (GRCm39) |
Y302* |
probably null |
Het |
| Vps13d |
C |
T |
4: 144,847,938 (GRCm39) |
V2478I |
|
Het |
| Wsb1 |
A |
G |
11: 79,131,184 (GRCm39) |
V404A |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,239,205 (GRCm39) |
D539G |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,722,173 (GRCm39) |
V1392A |
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 |
|
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'- TGAGGGCATGCACTCCTTTG -3'
(R):5'- TCGGAGAATCACAGACTACAAG -3'
Sequencing Primer
(F):5'- GTTTTCCCACTAATAGCAACACTG -3'
(R):5'- TGTTCCCAGCACTCAGGGTATG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation