Incidental Mutation 'IGL03199:Vps35l'
ID 412929
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 # IGL03199
Quality Score
Status
Chromosome 7
Chromosomal Location 118339401-118440712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118365611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 15 (S15P)
Ref Sequence ENSEMBL: ENSMUSP00000033280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033280] [ENSMUST00000059390] [ENSMUST00000106552] [ENSMUST00000106553] [ENSMUST00000175922]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033280
AA Change: S15P

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000059390
AA Change: S278P

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: S278P

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106552
AA Change: S254P

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: S254P

DomainStartEndE-ValueType
low complexity region 47 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106553
AA Change: S254P

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: S254P

DomainStartEndE-ValueType
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: ENSMUST00000208351
Predicted Effect probably benign
Transcript: ENSMUST00000175922
SMART Domains Protein: ENSMUSP00000134956
Gene: ENSMUSG00000030982

DomainStartEndE-ValueType
low complexity region 42 71 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,946,556 (GRCm39) I151T possibly damaging Het
Alms1 T A 6: 85,599,479 (GRCm39) M1904K possibly damaging Het
Chsy3 T A 18: 59,309,473 (GRCm39) F242Y probably damaging Het
Cwf19l2 G A 9: 3,477,830 (GRCm39) G845D probably damaging Het
Cyfip2 A G 11: 46,167,670 (GRCm39) I244T probably benign Het
Dnah10 A T 5: 124,894,761 (GRCm39) Q3499L probably benign Het
Fat3 A G 9: 16,288,344 (GRCm39) V393A possibly damaging Het
Fcamr T A 1: 130,740,655 (GRCm39) V358D probably damaging Het
Fndc3c1 T A X: 105,479,993 (GRCm39) K696N possibly damaging Het
Igkv2-112 G A 6: 68,197,000 (GRCm39) M12I probably benign Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Map4k1 A G 7: 28,682,842 (GRCm39) E16G probably damaging Het
Myl7 C T 11: 5,848,205 (GRCm39) G50R probably damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Or10d4b A G 9: 39,535,240 (GRCm39) I272V probably benign Het
Prkcz A G 4: 155,357,441 (GRCm39) F157L possibly damaging Het
Sult2a1 C A 7: 13,566,585 (GRCm39) G130V probably damaging Het
Trim27 G A 13: 21,375,421 (GRCm39) probably null Het
Trim43b T G 9: 88,971,481 (GRCm39) Q225P probably damaging Het
Ugt2b34 A G 5: 87,054,739 (GRCm39) L14P unknown Het
Vmn1r209 A T 13: 22,990,220 (GRCm39) S157T possibly damaging Het
Vmn2r38 A T 7: 9,078,375 (GRCm39) V669D probably damaging Het
Zfp422 T C 6: 116,603,912 (GRCm39) Q29R probably benign Het
Zfp623 C T 15: 75,819,119 (GRCm39) A25V probably benign 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
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
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 2016-08-02