Incidental Mutation 'R6844:Shisa8'
ID 534688
Institutional Source Beutler Lab
Gene Symbol Shisa8
Ensembl Gene ENSMUSG00000096883
Gene Name shisa family member 8
Synonyms Orf26, AI848285, CKAMP39
MMRRC Submission 044950-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6844 (G1)
Quality Score 188.009
Status Validated
Chromosome 15
Chromosomal Location 82091153-82097004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82096310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 102 (S102G)
Ref Sequence ENSEMBL: ENSMUSP00000137002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179269] [ENSMUST00000229543]
AlphaFold J3QNX5
Predicted Effect probably damaging
Transcript: ENSMUST00000179269
AA Change: S102G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137002
Gene: ENSMUSG00000096883
AA Change: S102G

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:Shisa 55 189 1.7e-33 PFAM
low complexity region 234 246 N/A INTRINSIC
low complexity region 255 268 N/A INTRINSIC
low complexity region 310 328 N/A INTRINSIC
low complexity region 349 360 N/A INTRINSIC
low complexity region 370 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229543
Meta Mutation Damage Score 0.0878 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 92% (36/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap18 G A 10: 26,648,682 (GRCm39) A35T probably benign Het
Arhgap21 A G 2: 20,886,116 (GRCm39) S354P probably benign Het
Casq2 A T 3: 102,017,578 (GRCm39) H86L possibly damaging Het
Ccdc188 G A 16: 18,036,074 (GRCm39) G83E probably damaging Het
Cd22 G T 7: 30,572,856 (GRCm39) probably null Het
Cyp2b13 T A 7: 25,781,122 (GRCm39) I178N probably damaging Het
Cyp4a31 T A 4: 115,420,989 (GRCm39) C26S probably null Het
Eif3h T C 15: 51,728,729 (GRCm39) D42G possibly damaging Het
Elovl4 T A 9: 83,672,164 (GRCm39) I52L probably benign Het
Fgfbp3 C A 19: 36,896,280 (GRCm39) A113S possibly damaging Het
Fsip2 A T 2: 82,813,969 (GRCm39) K3429N possibly damaging Het
Gemin5 T C 11: 58,054,730 (GRCm39) D224G probably benign Het
Gm3415 T C 5: 146,494,811 (GRCm39) I158T probably benign Het
Gpr22 C A 12: 31,759,951 (GRCm39) R20L probably benign Het
Htr1a A G 13: 105,581,455 (GRCm39) K232E possibly damaging Het
Itgax T A 7: 127,747,106 (GRCm39) probably null Het
Jag2 T C 12: 112,880,334 (GRCm39) Y310C probably damaging Het
Lce1j A G 3: 92,696,656 (GRCm39) S41P unknown Het
Mllt10 A G 2: 18,164,294 (GRCm39) I197V probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mybpc1 T A 10: 88,372,243 (GRCm39) I796F possibly damaging Het
Nr2c1 T A 10: 94,007,029 (GRCm39) L289* probably null Het
Omp T A 7: 97,794,283 (GRCm39) M115L probably benign Het
Pdcd1 C T 1: 93,967,106 (GRCm39) R264H probably benign Het
Plxna2 T C 1: 194,476,136 (GRCm39) F1119L probably benign Het
Ralyl A G 3: 13,841,938 (GRCm39) T25A probably damaging Het
Rapgef4 A G 2: 72,064,970 (GRCm39) T656A probably damaging Het
Ripor3 C T 2: 167,835,253 (GRCm39) probably null Het
Samd8 T C 14: 21,825,205 (GRCm39) S54P probably damaging Het
Serpinb9g A T 13: 33,670,616 (GRCm39) I35F probably damaging Het
Slc4a1ap T A 5: 31,684,822 (GRCm39) S153T probably damaging Het
Slc4a4 T A 5: 89,376,831 (GRCm39) D1028E probably damaging Het
Slc6a13 T A 6: 121,302,012 (GRCm39) I198N probably damaging Het
Sst C T 16: 23,708,592 (GRCm39) D80N probably benign Het
Synj2 A G 17: 6,026,081 (GRCm39) K47E probably damaging Het
Tal1 C T 4: 114,920,464 (GRCm39) P46L probably benign Het
Top2b A T 14: 16,429,383 (GRCm38) N1541I possibly damaging Het
Vps13b T A 15: 35,877,736 (GRCm39) N2903K probably benign Het
Zfp949 A G 9: 88,451,464 (GRCm39) T345A possibly damaging Het
Zmat3 A G 3: 32,395,644 (GRCm39) Y288H probably damaging Het
Other mutations in Shisa8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1522:Shisa8 UTSW 15 82,092,702 (GRCm39) missense probably damaging 0.98
R1608:Shisa8 UTSW 15 82,092,756 (GRCm39) missense probably damaging 1.00
R4520:Shisa8 UTSW 15 82,096,163 (GRCm39) missense possibly damaging 0.84
R4524:Shisa8 UTSW 15 82,096,163 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- ATTTGGAGCCAGCTAGGGAC -3'
(R):5'- TCACTTGTGTCTGGAACCGC -3'

Sequencing Primer
(F):5'- ACTCACCTGGTCACCGTG -3'
(R):5'- TGTGTCTGGAACCGCAGACG -3'
Posted On 2018-09-12