Incidental Mutation 'R2048:Shisa3'
ID 222193
Institutional Source Beutler Lab
Gene Symbol Shisa3
Ensembl Gene ENSMUSG00000050010
Gene Name shisa family member 3
Synonyms D830007B15Rik, mShisa3
MMRRC Submission 040055-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2048 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 67765226-67771330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67768651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 184 (E184K)
Ref Sequence ENSEMBL: ENSMUSP00000084494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087241] [ENSMUST00000142843]
AlphaFold Q3UPR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000087241
AA Change: E184K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000084494
Gene: ENSMUSG00000050010
AA Change: E184K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Shisa 25 202 6.7e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142843
SMART Domains Protein: ENSMUSP00000138599
Gene: ENSMUSG00000050010

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Shisa 23 100 2.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200753
Meta Mutation Damage Score 0.0894 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (52/53)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and apparently normal with no defects in head development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A G 9: 70,647,357 (GRCm39) D19G possibly damaging Het
Adhfe1 A G 1: 9,633,778 (GRCm39) K342R probably benign Het
Adk A G 14: 21,368,244 (GRCm39) N223S probably damaging Het
Aff4 A G 11: 53,289,212 (GRCm39) S454G probably benign Het
Ahnak T A 19: 8,984,420 (GRCm39) N1901K probably damaging Het
Camsap1 T C 2: 25,819,755 (GRCm39) T1578A probably benign Het
Ccdc63 A C 5: 122,268,350 (GRCm39) probably null Het
Ceacam1 G T 7: 25,176,113 (GRCm39) S27Y probably benign Het
Cit T C 5: 116,024,872 (GRCm39) probably null Het
Cntn4 A G 6: 106,414,825 (GRCm39) probably benign Het
Cyp2d26 A G 15: 82,676,928 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,908,237 (GRCm39) V204E probably damaging Het
Cyp51 G A 5: 4,136,636 (GRCm39) probably benign Het
Dipk1a T C 5: 108,057,886 (GRCm39) D179G probably damaging Het
Epb41l4b T G 4: 57,142,866 (GRCm39) E96D probably benign Het
Epg5 A G 18: 78,067,202 (GRCm39) E2221G probably damaging Het
Fbxo21 T A 5: 118,146,169 (GRCm39) N597K probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fsip1 C A 2: 118,072,197 (GRCm39) E195D probably damaging Het
Gm10152 T C 7: 144,317,049 (GRCm39) F35L unknown Het
Gtpbp6 A C 5: 110,254,931 (GRCm39) V87G probably damaging Het
Hal A G 10: 93,327,002 (GRCm39) T176A probably damaging Het
Il12rb2 G T 6: 67,337,529 (GRCm39) N117K probably benign Het
Kalrn A G 16: 34,072,680 (GRCm39) V734A probably benign Het
Klf7 A G 1: 64,117,913 (GRCm39) V228A possibly damaging Het
Kng1 A G 16: 22,877,354 (GRCm39) Y54C probably damaging Het
Lpcat2 T G 8: 93,596,471 (GRCm39) N169K possibly damaging Het
Magohb A T 6: 131,266,385 (GRCm39) S40R probably damaging Het
Mgam A G 6: 40,633,363 (GRCm39) D186G possibly damaging Het
Mycbp2 A G 14: 103,469,960 (GRCm39) probably null Het
Myh15 A G 16: 48,975,928 (GRCm39) D1332G probably damaging Het
Myh9 G A 15: 77,655,332 (GRCm39) T1208M possibly damaging Het
Ncor2 C T 5: 125,161,996 (GRCm39) R426H unknown Het
Nradd T C 9: 110,450,697 (GRCm39) E160G probably benign Het
Or10u4 G A 10: 129,801,861 (GRCm39) S230L probably damaging Het
Or2a54 T A 6: 43,093,312 (GRCm39) M212K probably benign Het
Otog A T 7: 45,937,063 (GRCm39) T1591S probably damaging Het
Oxsr1 A G 9: 119,076,140 (GRCm39) S389P probably benign Het
Pde3a A G 6: 141,434,732 (GRCm39) probably benign Het
Pi4k2b A T 5: 52,905,773 (GRCm39) I105L probably benign Het
Pilrb1 T C 5: 137,853,153 (GRCm39) R217G possibly damaging Het
Poteg A T 8: 27,946,774 (GRCm39) I159L probably benign Het
Ppargc1a A G 5: 51,705,858 (GRCm39) F75S probably damaging Het
Ptk2b T G 14: 66,409,954 (GRCm39) D466A probably benign Het
Ptpn21 A G 12: 98,655,785 (GRCm39) V394A possibly damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Slc4a2 A G 5: 24,636,557 (GRCm39) H283R probably damaging Het
Slc9a3 A G 13: 74,311,860 (GRCm39) S603G probably damaging Het
Tas2r124 A G 6: 132,731,858 (GRCm39) I56V possibly damaging Het
Tbcd G T 11: 121,431,762 (GRCm39) C470F probably damaging Het
Thsd1 A G 8: 22,749,333 (GRCm39) R674G probably benign Het
Zbtb11 T A 16: 55,818,372 (GRCm39) C599S probably damaging Het
Zfp541 A G 7: 15,812,252 (GRCm39) R302G possibly damaging Het
Other mutations in Shisa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01770:Shisa3 APN 5 67,768,408 (GRCm39) missense probably damaging 1.00
IGL02998:Shisa3 APN 5 67,765,848 (GRCm39) missense possibly damaging 0.47
R1416:Shisa3 UTSW 5 67,768,777 (GRCm39) missense probably benign
R1654:Shisa3 UTSW 5 67,768,402 (GRCm39) missense probably damaging 1.00
R2247:Shisa3 UTSW 5 67,768,666 (GRCm39) missense probably benign 0.35
R4651:Shisa3 UTSW 5 67,765,992 (GRCm39) missense probably damaging 0.99
R6243:Shisa3 UTSW 5 67,768,486 (GRCm39) missense probably benign 0.04
R8799:Shisa3 UTSW 5 67,768,749 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGCTATCTATTGTTGCACCTG -3'
(R):5'- TGTGTGGCCTATTCACAGCC -3'

Sequencing Primer
(F):5'- GTTGCACCTGTTTGAGACCCAAG -3'
(R):5'- GGCCTATTCACAGCCATCGC -3'
Posted On 2014-08-25