Incidental Mutation 'IGL02710:Sv2c'
ID304538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sv2c
Ensembl Gene ENSMUSG00000051111
Gene Namesynaptic vesicle glycoprotein 2c
Synonyms4930527L09Rik
Accession Numbers

Genbank: NM_029210; MGI: 1922459

Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02710
Quality Score
Status
Chromosome13
Chromosomal Location95954594-96132577 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 95989141 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 363 (I363F)
Ref Sequence ENSEMBL: ENSMUSP00000138317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161263] [ENSMUST00000182289]
Predicted Effect probably damaging
Transcript: ENSMUST00000161263
AA Change: I363F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: I363F

DomainStartEndE-ValueType
low complexity region 51 61 N/A INTRINSIC
Pfam:Sugar_tr 117 428 9.1e-31 PFAM
Pfam:MFS_1 154 470 5e-27 PFAM
Pfam:Pentapeptide_4 496 573 4.8e-12 PFAM
Pfam:MFS_1 564 725 1.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182180
Predicted Effect probably damaging
Transcript: ENSMUST00000182289
AA Change: I363F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: I363F

DomainStartEndE-ValueType
low complexity region 51 61 N/A INTRINSIC
Pfam:Sugar_tr 119 427 2.2e-30 PFAM
Pfam:MFS_1 154 470 5e-27 PFAM
Pfam:Pentapeptide_4 496 571 6.2e-15 PFAM
transmembrane domain 581 603 N/A INTRINSIC
transmembrane domain 610 632 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220740
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypoactivity and increased anxiety-related response. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 T G 1: 58,334,769 probably null Het
Col18a1 G A 10: 77,113,312 A122V possibly damaging Het
Dtnb T A 12: 3,648,380 H289Q possibly damaging Het
Fat4 A T 3: 38,890,595 K1212N probably damaging Het
Gm10392 T C 11: 77,518,468 H44R possibly damaging Het
Herc2 G A 7: 56,137,814 A1740T possibly damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Knl1 A C 2: 119,070,930 E1037D probably damaging Het
Lsg1 A T 16: 30,571,474 D274E probably benign Het
Msantd3 A G 4: 48,552,686 K92E probably damaging Het
Nap1l4 G A 7: 143,524,261 T312I probably benign Het
Nlrp3 A G 11: 59,565,976 E988G probably damaging Het
Olfr744 C T 14: 50,618,798 T192I probably benign Het
Palm3 C T 8: 84,028,312 T151I possibly damaging Het
Pde1b T C 15: 103,522,057 W144R probably damaging Het
Piezo2 A G 18: 63,074,659 L1427P probably damaging Het
Rasal1 A T 5: 120,666,431 H456L possibly damaging Het
Sec16a C T 2: 26,430,130 G1432D possibly damaging Het
Shc1 A G 3: 89,424,610 probably null Het
Skint5 T A 4: 113,477,959 I1452F unknown Het
Slc35b4 C A 6: 34,158,541 V279L probably benign Het
Snx9 T C 17: 5,908,598 V283A probably damaging Het
Stra6l T C 4: 45,882,728 F480L possibly damaging Het
Stt3a A G 9: 36,758,745 Y132H probably damaging Het
Tnfrsf21 C T 17: 43,087,929 T642I probably damaging Het
Tubgcp2 G A 7: 140,004,984 probably benign Het
Usp47 A G 7: 112,092,925 N845D probably benign Het
Wdr20 A T 12: 110,793,110 probably benign Het
Wdr63 A T 3: 146,048,148 I719N possibly damaging Het
Zfp518b A G 5: 38,672,718 V648A probably damaging Het
Zfp687 A T 3: 95,008,773 S927T probably benign Het
Other mutations in Sv2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Sv2c APN 13 96048429 missense probably damaging 1.00
IGL01313:Sv2c APN 13 96088289 missense probably damaging 1.00
IGL02990:Sv2c APN 13 96088378 missense probably damaging 1.00
IGL03145:Sv2c APN 13 95989098 missense probably damaging 1.00
D4043:Sv2c UTSW 13 96088481 missense probably benign 0.27
R0390:Sv2c UTSW 13 96088708 missense probably benign
R0849:Sv2c UTSW 13 95989811 missense probably damaging 1.00
R0907:Sv2c UTSW 13 96088255 missense probably damaging 1.00
R1177:Sv2c UTSW 13 95989763 missense possibly damaging 0.79
R1840:Sv2c UTSW 13 95981844 missense probably benign 0.08
R1865:Sv2c UTSW 13 95976775 missense probably benign 0.29
R1959:Sv2c UTSW 13 95976645 missense probably damaging 1.00
R2440:Sv2c UTSW 13 96048576 missense probably damaging 1.00
R4007:Sv2c UTSW 13 95986833 splice site probably benign
R4197:Sv2c UTSW 13 95978128 missense probably damaging 1.00
R4697:Sv2c UTSW 13 95986018 missense possibly damaging 0.64
R4719:Sv2c UTSW 13 95986811 missense probably benign 0.21
R4822:Sv2c UTSW 13 95985949 missense probably damaging 1.00
R5237:Sv2c UTSW 13 95981883 missense possibly damaging 0.76
R5452:Sv2c UTSW 13 95978083 missense probably damaging 1.00
R5531:Sv2c UTSW 13 95961378 missense probably damaging 0.98
R5756:Sv2c UTSW 13 95985967 missense probably benign
R5982:Sv2c UTSW 13 95976063 nonsense probably null
R6220:Sv2c UTSW 13 95976626 missense probably damaging 1.00
R6511:Sv2c UTSW 13 96048525 missense probably benign 0.00
R6520:Sv2c UTSW 13 95986721 missense probably benign
R7001:Sv2c UTSW 13 95981953 missense probably benign 0.11
R7073:Sv2c UTSW 13 96088250 missense probably damaging 1.00
R7116:Sv2c UTSW 13 95976644 missense probably damaging 1.00
R7261:Sv2c UTSW 13 96088301 missense probably damaging 1.00
R7374:Sv2c UTSW 13 95989136 missense probably damaging 1.00
R7423:Sv2c UTSW 13 96048548 missense probably benign 0.03
R7626:Sv2c UTSW 13 95985943 missense probably benign 0.13
R7727:Sv2c UTSW 13 95976695 missense possibly damaging 0.89
R7767:Sv2c UTSW 13 95989715 missense probably damaging 1.00
R7818:Sv2c UTSW 13 95986820 nonsense probably null
R7831:Sv2c UTSW 13 95976692 missense probably damaging 1.00
R7914:Sv2c UTSW 13 95976692 missense probably damaging 1.00
Z1176:Sv2c UTSW 13 95976097 missense probably benign
Posted On2015-04-16