Incidental Mutation 'IGL02381:Vps35l'
ID 291380
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps35l
Ensembl Gene ENSMUSG00000030982
Gene Name VPS35 endosomal protein sorting factor like
Synonyms 9030624J02Rik, Vsp35l
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL02381
Quality Score
Status
Chromosome 7
Chromosomal Location 118339401-118440712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118374598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 342 (Y342C)
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: Y103C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000059390
AA Change: Y366C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: Y366C

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106552
AA Change: Y342C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: Y342C

DomainStartEndE-ValueType
low complexity region 47 76 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106553
AA Change: Y342C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: Y342C

DomainStartEndE-ValueType
low complexity region 47 76 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129334
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,904,413 (GRCm39) I126F probably damaging Het
Antxrl T G 14: 33,778,568 (GRCm39) probably null Het
Arsa A T 15: 89,359,740 (GRCm39) Y62* probably null Het
Atg2b C A 12: 105,614,607 (GRCm39) C1108F probably damaging Het
Atp8a1 T C 5: 67,863,338 (GRCm39) Q651R probably benign Het
Atxn7l2 A G 3: 108,111,811 (GRCm39) probably benign Het
Cacna1f A G X: 7,482,307 (GRCm39) D597G probably damaging Het
Capn12 T C 7: 28,585,880 (GRCm39) probably benign Het
Ctnna2 A T 6: 76,931,766 (GRCm39) D624E probably benign Het
Dnah2 T C 11: 69,337,118 (GRCm39) E3274G probably benign Het
Dnah7b A T 1: 46,316,280 (GRCm39) N3131I probably damaging Het
Fam3a C T X: 73,430,690 (GRCm39) G112E probably damaging Het
Focad T G 4: 88,192,327 (GRCm39) probably benign Het
Fyb2 G A 4: 104,805,863 (GRCm39) probably benign Het
Htt C T 5: 34,987,104 (GRCm39) P1108S probably benign Het
Ift80 A T 3: 68,869,653 (GRCm39) probably null Het
Insc T C 7: 114,449,177 (GRCm39) *533Q probably null Het
Itga2 A G 13: 114,993,258 (GRCm39) C786R probably damaging Het
Lman2 A G 13: 55,499,282 (GRCm39) W198R possibly damaging Het
Med23 A G 10: 24,776,626 (GRCm39) T713A possibly damaging Het
Mtus1 A T 8: 41,536,156 (GRCm39) M520K probably benign Het
Mvd C A 8: 123,163,894 (GRCm39) G252V probably benign Het
Ncoa3 T A 2: 165,894,737 (GRCm39) V340E probably damaging Het
Necab1 A G 4: 15,148,812 (GRCm39) probably null Het
Noxred1 T C 12: 87,271,776 (GRCm39) D131G probably damaging Het
P2ry4 C A X: 99,637,807 (GRCm39) K30N probably damaging Het
Pcdhac2 T A 18: 37,277,320 (GRCm39) V100D possibly damaging Het
Piezo1 C A 8: 123,225,283 (GRCm39) R571L probably benign Het
Pkd1l2 C T 8: 117,762,539 (GRCm39) probably benign Het
Plekhm2 T C 4: 141,370,034 (GRCm39) T32A possibly damaging Het
Rev3l T C 10: 39,697,342 (GRCm39) V613A possibly damaging Het
Rp1 A G 1: 4,422,613 (GRCm39) S156P probably benign Het
Sema3f A T 9: 107,569,594 (GRCm39) D48E probably damaging Het
Shisal1 A G 15: 84,290,654 (GRCm39) S218P probably damaging Het
Slc29a4 T C 5: 142,705,854 (GRCm39) V446A probably benign Het
Sppl3 C T 5: 115,212,969 (GRCm39) probably null Het
Ttn T C 2: 76,599,982 (GRCm39) E19064G probably damaging Het
Other mutations in Vps35l
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16