Incidental Mutation 'IGL01981:Shisa9'
ID183472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shisa9
Ensembl Gene ENSMUSG00000022494
Gene Nameshisa family member 9
SynonymsCKAMP44, 2700045P11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL01981
Quality Score
Status
Chromosome16
Chromosomal Location11984113-12270902 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12244658 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 248 (M248L)
Ref Sequence ENSEMBL: ENSMUSP00000132646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023138] [ENSMUST00000170672]
Predicted Effect probably benign
Transcript: ENSMUST00000023138
AA Change: M248L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023138
Gene: ENSMUSG00000022494
AA Change: M248L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 28 61 N/A INTRINSIC
Pfam:Shisa 70 254 7.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170672
AA Change: M248L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000132646
Gene: ENSMUSG00000022494
AA Change: M248L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 28 61 N/A INTRINSIC
Pfam:Shisa 71 260 2.1e-55 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced AMPA-mediated synaptic currents in retinogeniculate and corticogeniculate synapses, enhanced paired-pulse facilitation in retinogeniculate synapses and decreased synaptic depression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik C T 17: 33,067,654 G58E probably damaging Het
Akt2 A C 7: 27,638,074 D417A probably benign Het
Ap1b1 T A 11: 5,019,336 S231T possibly damaging Het
Arhgap31 G A 16: 38,601,573 T1377I probably damaging Het
Cdkl3 A G 11: 52,005,069 T48A probably benign Het
Chd3 T C 11: 69,360,675 Y510C probably damaging Het
Chml A G 1: 175,688,185 S57P probably damaging Het
Cpxm1 G T 2: 130,394,140 C367* probably null Het
D930020B18Rik A G 10: 121,692,414 T428A probably damaging Het
Dnaja3 A T 16: 4,701,169 I325F probably damaging Het
Erbb3 A G 10: 128,571,650 V943A probably benign Het
Fam110b A G 4: 5,799,481 I300V probably benign Het
Fam193a A G 5: 34,431,193 E76G probably damaging Het
Fbxl3 G A 14: 103,095,464 T26M possibly damaging Het
Furin A G 7: 80,392,899 L380P probably damaging Het
Fxr2 A C 11: 69,650,502 I354L possibly damaging Het
Garnl3 G T 2: 32,997,729 N756K probably damaging Het
Gimap1 A G 6: 48,743,324 Y290C probably damaging Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gm5592 G A 7: 41,286,371 W99* probably null Het
Hexdc G T 11: 121,216,993 S183I possibly damaging Het
Hmg20a C T 9: 56,477,230 P95S probably damaging Het
Jhy A T 9: 40,895,546 I769N probably damaging Het
Lrrd1 G T 5: 3,851,267 C524F probably damaging Het
Musk C A 4: 58,296,629 S76R probably damaging Het
Myom3 C T 4: 135,785,849 R613* probably null Het
Naa16 T A 14: 79,381,516 E172D probably benign Het
Obox6 A T 7: 15,834,921 M10K possibly damaging Het
Olfr1039 A T 2: 86,130,830 Y278N probably benign Het
Pam C T 1: 97,834,441 V700M probably damaging Het
Pkd1l2 C A 8: 117,016,916 R1978L probably benign Het
Pkhd1 T A 1: 20,523,567 T1441S possibly damaging Het
Plg A G 17: 12,403,047 probably benign Het
Pot1a A G 6: 25,750,100 L521P probably damaging Het
Pramef17 G A 4: 143,994,354 P6S probably damaging Het
Ptprj A T 2: 90,439,912 V1280E probably damaging Het
Rcbtb2 T C 14: 73,164,782 S136P possibly damaging Het
Rtl1 C T 12: 109,591,935 E1157K possibly damaging Het
Sell G A 1: 164,065,626 R137Q probably benign Het
Spag17 A G 3: 100,058,833 E1144G probably benign Het
Sphk2 G T 7: 45,710,733 Q616K probably benign Het
Tecrl T C 5: 83,294,606 T207A probably benign Het
Ubr5 T C 15: 37,996,598 T1885A probably benign Het
Usp24 T C 4: 106,375,768 probably benign Het
Usp32 A G 11: 85,036,524 M622T probably benign Het
Vangl1 A G 3: 102,184,291 F160L probably damaging Het
Vps13d T C 4: 145,086,747 S3289G probably damaging Het
Wdfy4 A G 14: 33,133,716 F647S probably damaging Het
Wdhd1 A G 14: 47,261,450 L509P probably damaging Het
Zcchc2 A G 1: 106,027,499 E640G probably damaging Het
Zfp563 T A 17: 33,105,409 I326N probably benign Het
Other mutations in Shisa9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02011:Shisa9 APN 16 12244638 missense possibly damaging 0.87
IGL02884:Shisa9 APN 16 11997043 splice site probably benign
PIT4508001:Shisa9 UTSW 16 12267480 missense probably benign 0.00
R0194:Shisa9 UTSW 16 11984954 missense probably damaging 1.00
R0309:Shisa9 UTSW 16 11997123 missense probably damaging 1.00
R0588:Shisa9 UTSW 16 12267774 missense probably damaging 0.99
R1469:Shisa9 UTSW 16 11985071 missense probably damaging 1.00
R1469:Shisa9 UTSW 16 11985071 missense probably damaging 1.00
R1781:Shisa9 UTSW 16 12267657 missense probably benign 0.00
R1818:Shisa9 UTSW 16 12267562 missense probably damaging 0.96
R1943:Shisa9 UTSW 16 12267756 missense probably benign 0.06
R2263:Shisa9 UTSW 16 11984767 missense possibly damaging 0.53
R3742:Shisa9 UTSW 16 12267664 missense probably damaging 1.00
R5068:Shisa9 UTSW 16 12267548 missense possibly damaging 0.48
R5977:Shisa9 UTSW 16 12267428 missense probably benign 0.01
R6032:Shisa9 UTSW 16 11984908 missense possibly damaging 0.76
R6032:Shisa9 UTSW 16 11984908 missense possibly damaging 0.76
R6487:Shisa9 UTSW 16 12244611 missense probably benign 0.01
R6773:Shisa9 UTSW 16 11985028 missense probably damaging 1.00
R8341:Shisa9 UTSW 16 11997151 missense possibly damaging 0.60
Posted On2014-05-07