Incidental Mutation 'R0673:Sypl1'
ID 61531
Institutional Source Beutler Lab
Gene Symbol Sypl1
Ensembl Gene ENSMUSG00000020570
Gene Name synaptophysin like 1
Synonyms D12Ertd446e, Pphn, Pan I, Sypl
MMRRC Submission 038858-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0673 (G1)
Quality Score 119
Status Not validated
Chromosome 12
Chromosomal Location 33003874-33029503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33015420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 40 (T40S)
Ref Sequence ENSEMBL: ENSMUSP00000122695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020885] [ENSMUST00000076698] [ENSMUST00000122861]
AlphaFold O09117
Predicted Effect possibly damaging
Transcript: ENSMUST00000020885
AA Change: T40S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020885
Gene: ENSMUSG00000020570
AA Change: T40S

DomainStartEndE-ValueType
Pfam:MARVEL 10 215 6.9e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000076698
AA Change: T58S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075990
Gene: ENSMUSG00000020570
AA Change: T58S

DomainStartEndE-ValueType
Pfam:MARVEL 28 233 1.3e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122861
AA Change: T40S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218816
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik C T 17: 46,043,999 (GRCm39) W86* probably null Het
2700049A03Rik C T 12: 71,224,642 (GRCm39) P894S probably damaging Het
Adgrg7 A T 16: 56,593,849 (GRCm39) N122K possibly damaging Het
Ankrd13d A T 19: 4,323,047 (GRCm39) probably null Het
Blm A T 7: 80,149,499 (GRCm39) probably null Het
Caml C T 13: 55,779,641 (GRCm39) T238M probably damaging Het
Casd1 T A 6: 4,624,440 (GRCm39) V411D possibly damaging Het
Cdc25b A G 2: 131,039,182 (GRCm39) N516D probably benign Het
Cmya5 A G 13: 93,226,505 (GRCm39) I2861T probably damaging Het
Csmd3 A G 15: 47,777,336 (GRCm39) L1294P probably damaging Het
Cxxc1 A G 18: 74,351,984 (GRCm39) D287G possibly damaging Het
Dgkq T C 5: 108,803,455 (GRCm39) H217R probably damaging Het
Disp2 A T 2: 118,621,325 (GRCm39) I686F possibly damaging Het
Dnah6 T A 6: 73,100,794 (GRCm39) N2003I probably benign Het
Dsc3 T A 18: 20,122,647 (GRCm39) R92S probably damaging Het
Ei24 T G 9: 36,699,551 (GRCm39) probably null Het
Fgl1 G T 8: 41,644,661 (GRCm39) T281K probably benign Het
Gbp3 A G 3: 142,271,015 (GRCm39) T140A probably benign Het
Gtpbp3 A T 8: 71,945,379 (GRCm39) I485F probably damaging Het
Harbi1 C T 2: 91,542,880 (GRCm39) R114W probably damaging Het
Inmt A C 6: 55,148,212 (GRCm39) V139G probably damaging Het
Inpp5j T A 11: 3,451,147 (GRCm39) M501L probably benign Het
Jmjd1c A G 10: 67,062,588 (GRCm39) N1647S probably damaging Het
Lgals9 A G 11: 78,856,679 (GRCm39) F252L probably damaging Het
Lingo3 C A 10: 80,671,618 (GRCm39) R104L probably benign Het
Lrrc8c G A 5: 105,755,544 (GRCm39) V440M probably damaging Het
Mybpc3 G A 2: 90,950,772 (GRCm39) G36D probably damaging Het
Ncapd3 T A 9: 26,998,773 (GRCm39) N1254K probably benign Het
Neb A G 2: 52,146,136 (GRCm39) V2947A possibly damaging Het
Nudt12 A T 17: 59,314,617 (GRCm39) probably null Het
Or2l5 A G 16: 19,334,146 (GRCm39) M80T probably damaging Het
Or4c3d A C 2: 89,882,596 (GRCm39) M24R probably benign Het
Otop1 T C 5: 38,445,292 (GRCm39) V150A possibly damaging Het
Prr14l C T 5: 32,986,259 (GRCm39) D1079N probably benign Het
Rasal1 A G 5: 120,808,449 (GRCm39) T494A probably benign Het
Sacs A G 14: 61,447,664 (GRCm39) K3237E possibly damaging Het
Sh3d19 T C 3: 86,014,280 (GRCm39) S415P probably benign Het
Tg A T 15: 66,613,333 (GRCm39) probably null Het
Tmed8 A G 12: 87,220,878 (GRCm39) V236A probably damaging Het
Vmn1r33 T C 6: 66,588,783 (GRCm39) Y257C probably damaging Het
Yme1l1 T C 2: 23,058,300 (GRCm39) F144S probably benign Het
Other mutations in Sypl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Sypl1 APN 12 33,004,293 (GRCm39) missense probably damaging 0.99
IGL00824:Sypl1 APN 12 33,015,505 (GRCm39) splice site probably benign
IGL01778:Sypl1 APN 12 33,025,641 (GRCm39) missense probably damaging 1.00
IGL02716:Sypl1 APN 12 33,017,668 (GRCm39) missense probably damaging 1.00
R0524:Sypl1 UTSW 12 33,017,564 (GRCm39) missense possibly damaging 0.69
R0639:Sypl1 UTSW 12 33,015,420 (GRCm39) missense probably damaging 1.00
R1463:Sypl1 UTSW 12 33,024,332 (GRCm39) unclassified probably benign
R4829:Sypl1 UTSW 12 33,017,645 (GRCm39) missense probably damaging 1.00
R7102:Sypl1 UTSW 12 33,024,254 (GRCm39) missense probably benign
R8993:Sypl1 UTSW 12 33,025,662 (GRCm39) missense probably benign 0.05
R9199:Sypl1 UTSW 12 33,016,463 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- CAGCAGTTCACTGATTGCTTGCAC -3'
(R):5'- GCTTCCCAAGAGCTGAGACTGATG -3'

Sequencing Primer
(F):5'- tcaaagtaatccacctgcctc -3'
(R):5'- ACTGATGAGATTGCAGGCCC -3'
Posted On 2013-07-30