Incidental Mutation 'R6032:Shisa9'
ID 486353
Institutional Source Beutler Lab
Gene Symbol Shisa9
Ensembl Gene ENSMUSG00000022494
Gene Name shisa family member 9
Synonyms 2700045P11Rik, CKAMP44
MMRRC Submission 044204-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R6032 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 11801977-12088766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11802772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 110 (F110L)
Ref Sequence ENSEMBL: ENSMUSP00000023138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023138] [ENSMUST00000170672]
AlphaFold Q9CZN4
Predicted Effect possibly damaging
Transcript: ENSMUST00000023138
AA Change: F110L

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023138
Gene: ENSMUSG00000022494
AA Change: F110L

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 possibly damaging
Transcript: ENSMUST00000170672
AA Change: F110L

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132646
Gene: ENSMUSG00000022494
AA Change: F110L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232469
Meta Mutation Damage Score 0.0623 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2ml1 T A 6: 128,526,799 (GRCm39) K1071* probably null Het
Abca13 G T 11: 9,247,752 (GRCm39) V2500F possibly damaging Het
Adamdec1 T C 14: 68,816,633 (GRCm39) E85G probably damaging Het
Aldh8a1 T C 10: 21,264,970 (GRCm39) V199A probably benign Het
Aoc2 G A 11: 101,216,627 (GRCm39) V237M probably damaging Het
Aplp2 C T 9: 31,062,240 (GRCm39) R672H probably damaging Het
Apob A G 12: 8,045,513 (GRCm39) N886S probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atp6v1a T C 16: 43,927,303 (GRCm39) Y328C probably damaging Het
Bag4 T C 8: 26,267,521 (GRCm39) Y103C probably damaging Het
Crem C T 18: 3,267,673 (GRCm39) R190Q probably damaging Het
Crybg1 A G 10: 43,832,756 (GRCm39) S2000P probably damaging Het
Cubn T A 2: 13,329,995 (GRCm39) T2629S probably benign Het
Cyp3a44 G T 5: 145,714,756 (GRCm39) S465Y probably damaging Het
Daam2 A C 17: 49,793,525 (GRCm39) F331V probably damaging Het
Dnajc3 T C 14: 119,205,443 (GRCm39) S146P possibly damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fam184b G A 5: 45,740,238 (GRCm39) S316L probably benign Het
Fat2 G C 11: 55,144,760 (GRCm39) T4038S probably damaging Het
Fbxl19 C T 7: 127,360,437 (GRCm39) R439C probably damaging Het
Gm3454 T A 15: 75,183,448 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,617 (GRCm39) E284G probably benign Het
Grm1 A T 10: 10,595,549 (GRCm39) I693N probably damaging Het
Gsdme T A 6: 50,222,934 (GRCm39) Q127L probably damaging Het
Ifnlr1 A G 4: 135,432,937 (GRCm39) K458E probably benign Het
Kcns2 T C 15: 34,839,080 (GRCm39) F148L probably benign Het
Lama1 A G 17: 68,057,638 (GRCm39) T571A probably benign Het
Loxhd1 G A 18: 77,469,254 (GRCm39) V108M probably damaging Het
Mef2c A T 13: 83,810,478 (GRCm39) T375S probably benign Het
Ncor1 A T 11: 62,264,147 (GRCm39) D144E possibly damaging Het
Nos3 A T 5: 24,584,809 (GRCm39) T738S probably benign Het
Nrxn2 A T 19: 6,567,162 (GRCm39) T1353S probably damaging Het
Or2b7 G T 13: 21,740,077 (GRCm39) S38R probably benign Het
Or4f4b T C 2: 111,314,195 (GRCm39) L140P probably damaging Het
Or8g17 A G 9: 38,930,261 (GRCm39) I192T probably benign Het
Pfpl A G 19: 12,406,747 (GRCm39) T333A probably damaging Het
Postn A T 3: 54,284,137 (GRCm39) I565F possibly damaging Het
Ppef2 A G 5: 92,378,383 (GRCm39) V604A probably benign Het
Pramel13 A C 4: 144,119,598 (GRCm39) I323S possibly damaging Het
Prmt1 A G 7: 44,626,526 (GRCm39) probably null Het
Rel A G 11: 23,692,684 (GRCm39) S450P probably benign Het
Rpap2 A C 5: 107,745,661 (GRCm39) D3A probably damaging Het
Slc25a10 A T 11: 120,385,784 (GRCm39) probably null Het
Slx4 A T 16: 3,798,021 (GRCm39) F1454L probably damaging Het
Smc1b A T 15: 84,950,430 (GRCm39) V1198D possibly damaging Het
Supt5 T C 7: 28,015,600 (GRCm39) Y879C probably damaging Het
Tbx15 T C 3: 99,259,833 (GRCm39) M568T probably benign Het
Tle4 T C 19: 14,429,472 (GRCm39) H698R possibly damaging Het
Trappc9 T C 15: 72,797,379 (GRCm39) N803D probably benign Het
Trim10 A T 17: 37,182,606 (GRCm39) R157S possibly damaging Het
Wsb1 T C 11: 79,131,025 (GRCm39) probably benign Het
Zfp106 T C 2: 120,365,874 (GRCm39) S178G probably benign Het
Zftraf1 C T 15: 76,543,058 (GRCm39) R34Q probably damaging Het
Other mutations in Shisa9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01981:Shisa9 APN 16 12,062,522 (GRCm39) missense probably benign 0.04
IGL02011:Shisa9 APN 16 12,062,502 (GRCm39) missense possibly damaging 0.87
IGL02884:Shisa9 APN 16 11,814,907 (GRCm39) splice site probably benign
PIT4508001:Shisa9 UTSW 16 12,085,344 (GRCm39) missense probably benign 0.00
R0194:Shisa9 UTSW 16 11,802,818 (GRCm39) missense probably damaging 1.00
R0309:Shisa9 UTSW 16 11,814,987 (GRCm39) missense probably damaging 1.00
R0588:Shisa9 UTSW 16 12,085,638 (GRCm39) missense probably damaging 0.99
R1469:Shisa9 UTSW 16 11,802,935 (GRCm39) missense probably damaging 1.00
R1469:Shisa9 UTSW 16 11,802,935 (GRCm39) missense probably damaging 1.00
R1781:Shisa9 UTSW 16 12,085,521 (GRCm39) missense probably benign 0.00
R1818:Shisa9 UTSW 16 12,085,426 (GRCm39) missense probably damaging 0.96
R1943:Shisa9 UTSW 16 12,085,620 (GRCm39) missense probably benign 0.06
R2263:Shisa9 UTSW 16 11,802,631 (GRCm39) missense possibly damaging 0.53
R3742:Shisa9 UTSW 16 12,085,528 (GRCm39) missense probably damaging 1.00
R5068:Shisa9 UTSW 16 12,085,412 (GRCm39) missense possibly damaging 0.48
R5977:Shisa9 UTSW 16 12,085,292 (GRCm39) missense probably benign 0.01
R6032:Shisa9 UTSW 16 11,802,772 (GRCm39) missense possibly damaging 0.76
R6487:Shisa9 UTSW 16 12,062,475 (GRCm39) missense probably benign 0.01
R6773:Shisa9 UTSW 16 11,802,892 (GRCm39) missense probably damaging 1.00
R8341:Shisa9 UTSW 16 11,815,015 (GRCm39) missense possibly damaging 0.60
R9035:Shisa9 UTSW 16 11,802,902 (GRCm39) missense probably damaging 1.00
R9390:Shisa9 UTSW 16 12,085,408 (GRCm39) missense possibly damaging 0.73
R9454:Shisa9 UTSW 16 11,802,523 (GRCm39) missense probably benign 0.00
R9658:Shisa9 UTSW 16 12,062,520 (GRCm39) missense possibly damaging 0.95
R9665:Shisa9 UTSW 16 12,085,446 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCCTCACCGAGCTGTGTG -3'
(R):5'- CTTGGTGAAGATGCCCACCAG -3'

Sequencing Primer
(F):5'- TACTGCTGCTCACAGGGG -3'
(R):5'- TGCCCACCAGCACCATG -3'
Posted On 2017-08-16