Incidental Mutation 'R1378:Vps35l'
ID 162952
Institutional Source Beutler Lab
Gene Symbol Vps35l
Ensembl Gene ENSMUSG00000030982
Gene Name VPS35 endosomal protein sorting factor like
Synonyms 9030624J02Rik, Vsp35l
MMRRC Submission 039442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R1378 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 118339401-118440712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118393796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 515 (E515V)
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: E276V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000059390
AA Change: E539V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: E539V

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106552
AA Change: E448V

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: E448V

DomainStartEndE-ValueType
low complexity region 47 76 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106553
AA Change: E515V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: E515V

DomainStartEndE-ValueType
low complexity region 47 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149749
SMART Domains Protein: ENSMUSP00000121323
Gene: ENSMUSG00000030982

DomainStartEndE-ValueType
Pfam:Vps35 2 198 7.3e-10 PFAM
Meta Mutation Damage Score 0.1606 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,126,030 (GRCm39) T342A probably damaging Het
Alg1 A G 16: 5,061,580 (GRCm39) N406D probably damaging Het
Atp13a4 A T 16: 29,239,246 (GRCm39) M825K probably damaging Het
Birc6 T A 17: 74,967,450 (GRCm39) I4117K probably damaging Het
Brinp2 A T 1: 158,074,624 (GRCm39) L499Q possibly damaging Het
Brwd1 A T 16: 95,842,570 (GRCm39) V789D probably benign Het
Ccdc153 C G 9: 44,154,958 (GRCm39) L94V probably null Het
Ccna1 A G 3: 54,957,150 (GRCm39) V237A probably damaging Het
Cct7 T A 6: 85,444,545 (GRCm39) probably null Het
Cenpb C T 2: 131,020,230 (GRCm39) probably benign Het
Chrne T A 11: 70,505,956 (GRCm39) probably null Het
Clstn3 T A 6: 124,415,378 (GRCm39) D662V probably damaging Het
Clu G T 14: 66,212,350 (GRCm39) C189F probably damaging Het
Cstdc5 A G 16: 36,179,929 (GRCm39) C63R probably benign Het
Cul7 C T 17: 46,973,052 (GRCm39) R1388C probably damaging Het
Dgka T C 10: 128,571,696 (GRCm39) probably null Het
Dop1b A G 16: 93,567,280 (GRCm39) T1236A probably benign Het
Edn2 A G 4: 120,019,095 (GRCm39) E28G probably benign Het
Elp3 T C 14: 65,830,380 (GRCm39) I24V probably benign Het
Faap24 T C 7: 35,092,326 (GRCm39) E197G probably benign Het
Fam13a T A 6: 58,933,736 (GRCm39) M285L probably benign Het
Gm9944 T A 4: 144,179,773 (GRCm39) probably benign Het
Gsdmc3 T C 15: 63,731,435 (GRCm39) probably benign Het
Gvin3 T A 7: 106,201,373 (GRCm39) I624F probably damaging Het
Ift22 A C 5: 136,941,757 (GRCm39) K133T probably benign Het
Il23r T A 6: 67,429,394 (GRCm39) K316I possibly damaging Het
Klra17 T A 6: 129,842,647 (GRCm39) E217V probably damaging Het
Nell2 A T 15: 95,130,402 (GRCm39) V657E probably damaging Het
Nlrp4d C A 7: 10,098,111 (GRCm39) K850N probably benign Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Or10d4 T C 9: 39,580,962 (GRCm39) L203P probably damaging Het
Or4p8 T A 2: 88,727,370 (GRCm39) R190S probably benign Het
Or52s1b T C 7: 102,822,475 (GRCm39) D123G probably damaging Het
Or52z14 A T 7: 103,253,145 (GRCm39) R95* probably null Het
Pclo T C 5: 14,732,327 (GRCm39) S3610P probably benign Het
Pon3 T G 6: 5,230,813 (GRCm39) D238A probably benign Het
Ppp4r4 T C 12: 103,547,751 (GRCm39) probably benign Het
Rad18 T C 6: 112,658,297 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,723,711 (GRCm39) Y1652C probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Sel1l T C 12: 91,799,871 (GRCm39) probably null Het
Soat1 A G 1: 156,294,352 (GRCm39) probably benign Het
Tex15 A T 8: 34,065,244 (GRCm39) N1558I probably damaging Het
Tmem132d A T 5: 128,346,011 (GRCm39) F170L probably benign Het
Tro G T X: 149,438,567 (GRCm39) P30Q probably damaging Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Unc45b G A 11: 82,827,678 (GRCm39) S725N probably benign Het
Vmn2r7 A G 3: 64,599,025 (GRCm39) S511P possibly damaging Het
Zfp174 G A 16: 3,667,353 (GRCm39) E181K 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
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 7 118,393,795 (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
Predicted Primers PCR Primer
(F):5'- TCCAACTGTCAGAGTCAGCCAGAC -3'
(R):5'- TTCGCATCTCGCTCAGTAGCCAAG -3'

Sequencing Primer
(F):5'- GACAGTCTGTCTCTCTCTCCC -3'
(R):5'- ACCGTGACTTCTAAGAGCTG -3'
Posted On 2014-03-17