Incidental Mutation 'R4449:Shisa6'
ID 328894
Institutional Source Beutler Lab
Gene Symbol Shisa6
Ensembl Gene ENSMUSG00000053930
Gene Name shisa family member 6
Synonyms Gm879, CKAMP52, LOC380702
MMRRC Submission 041710-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4449 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 66102551-66416790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66416244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 183 (T183A)
Ref Sequence ENSEMBL: ENSMUSP00000071025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066679]
AlphaFold Q3UH99
Predicted Effect probably benign
Transcript: ENSMUST00000066679
AA Change: T183A

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930
AA Change: T183A

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 42 59 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
Pfam:Shisa 97 294 6.3e-43 PFAM
low complexity region 378 389 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000123454
AA Change: T126A
SMART Domains Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930
AA Change: T126A

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
Pfam:Shisa 41 227 2.4e-43 PFAM
low complexity region 354 365 N/A INTRINSIC
Meta Mutation Damage Score 0.0635 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap3 A T 15: 83,218,759 (GRCm39) Y105N probably damaging Het
Arid3b T A 9: 57,705,404 (GRCm39) K266* probably null Het
Bend3 A G 10: 43,388,079 (GRCm39) E824G possibly damaging Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Cadm1 T A 9: 47,725,286 (GRCm39) probably benign Het
Cadm1 C T 9: 47,441,735 (GRCm39) A22V possibly damaging Het
Cntrob C A 11: 69,196,375 (GRCm39) D687Y probably benign Het
Dap3 A T 3: 88,857,185 (GRCm39) probably benign Het
Ddc T C 11: 11,785,802 (GRCm39) D295G probably damaging Het
Fut10 T A 8: 31,726,285 (GRCm39) Y347N probably damaging Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Helz T C 11: 107,494,989 (GRCm39) V321A probably benign Het
Hnrnpul1 T C 7: 25,421,709 (GRCm39) probably benign Het
Hsdl2 T A 4: 59,617,692 (GRCm39) I353K possibly damaging Het
Igkv3-2 G A 6: 70,675,825 (GRCm39) A45T probably benign Het
Kcnh6 A G 11: 105,909,762 (GRCm39) Y429C probably damaging Het
Luzp1 T A 4: 136,268,174 (GRCm39) N132K probably damaging Het
Mlycd T A 8: 120,137,144 (GRCm39) Y455N probably damaging Het
Myl7 C T 11: 5,847,354 (GRCm39) D115N probably damaging Het
Or52s1 A T 7: 102,861,687 (GRCm39) I196F probably benign Het
Pcdh7 A G 5: 57,877,827 (GRCm39) T461A probably damaging Het
Pi4kb C T 3: 94,892,046 (GRCm39) S254L probably benign Het
Pitpnc1 A G 11: 107,107,535 (GRCm39) V257A probably benign Het
Prpf40b A G 15: 99,212,544 (GRCm39) D596G probably damaging Het
Rngtt T C 4: 33,330,865 (GRCm39) F156S probably damaging Het
Sema3c A G 5: 17,781,844 (GRCm39) probably benign Het
Skint3 T A 4: 112,127,206 (GRCm39) V287E possibly damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc17a3 A T 13: 24,040,715 (GRCm39) S392C probably damaging Het
Snx14 T C 9: 88,305,052 (GRCm39) I81V probably benign Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Trappc12 A T 12: 28,797,234 (GRCm39) D99E probably benign Het
Trim34b T C 7: 103,984,935 (GRCm39) C318R probably benign Het
Ttc39a T C 4: 109,299,500 (GRCm39) I449T possibly damaging Het
Twsg1 A C 17: 66,233,305 (GRCm39) V215G possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Ubr1 A G 2: 120,776,862 (GRCm39) V293A possibly damaging Het
Unk G A 11: 115,944,460 (GRCm39) G404S probably damaging Het
Virma T C 4: 11,498,828 (GRCm39) probably null Het
Vps13b T C 15: 35,876,939 (GRCm39) V2864A possibly damaging Het
Wdfy4 T A 14: 32,818,040 (GRCm39) R1492W probably damaging Het
Zcchc3 G C 2: 152,256,642 (GRCm39) P19R probably benign Het
Other mutations in Shisa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Shisa6 APN 11 66,108,654 (GRCm39) missense possibly damaging 0.94
IGL01620:Shisa6 APN 11 66,108,705 (GRCm39) missense probably benign 0.03
IGL02702:Shisa6 APN 11 66,110,788 (GRCm39) missense probably damaging 1.00
IGL02810:Shisa6 APN 11 66,115,774 (GRCm39) missense possibly damaging 0.64
IGL03029:Shisa6 APN 11 66,108,839 (GRCm39) missense probably damaging 1.00
R0363:Shisa6 UTSW 11 66,416,153 (GRCm39) missense probably benign 0.17
R1220:Shisa6 UTSW 11 66,110,836 (GRCm39) missense probably damaging 1.00
R1264:Shisa6 UTSW 11 66,265,975 (GRCm39) splice site probably benign
R2495:Shisa6 UTSW 11 66,108,459 (GRCm39) missense probably damaging 1.00
R3962:Shisa6 UTSW 11 66,108,302 (GRCm39) missense probably damaging 1.00
R5872:Shisa6 UTSW 11 66,108,800 (GRCm39) missense probably damaging 1.00
R6059:Shisa6 UTSW 11 66,115,800 (GRCm39) missense probably damaging 0.98
R6172:Shisa6 UTSW 11 66,108,832 (GRCm39) missense probably benign 0.28
R6849:Shisa6 UTSW 11 66,416,327 (GRCm39) missense probably benign 0.01
R6903:Shisa6 UTSW 11 66,265,982 (GRCm39) splice site probably null
R7282:Shisa6 UTSW 11 66,393,480 (GRCm39) missense possibly damaging 0.94
R7450:Shisa6 UTSW 11 66,108,832 (GRCm39) missense probably benign 0.28
R7985:Shisa6 UTSW 11 66,265,990 (GRCm39) missense
R8449:Shisa6 UTSW 11 66,416,556 (GRCm39) missense probably benign 0.01
R9129:Shisa6 UTSW 11 66,110,853 (GRCm39) missense probably benign 0.37
RF008:Shisa6 UTSW 11 66,416,749 (GRCm39) unclassified probably benign
Z1176:Shisa6 UTSW 11 66,266,053 (GRCm39) missense
Z1187:Shisa6 UTSW 11 66,416,533 (GRCm39) small insertion probably benign
Z1187:Shisa6 UTSW 11 66,416,524 (GRCm39) small insertion probably benign
Z1188:Shisa6 UTSW 11 66,416,519 (GRCm39) small insertion probably benign
Z1190:Shisa6 UTSW 11 66,416,535 (GRCm39) small insertion probably benign
Z1190:Shisa6 UTSW 11 66,416,519 (GRCm39) small insertion probably benign
Z1191:Shisa6 UTSW 11 66,416,517 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- GCGACTGTGGAAGTGACTTAG -3'
(R):5'- TCGAGTGCAACAACAGCGAG -3'

Sequencing Primer
(F):5'- CGACTGTGGAAGTGACTTAGAAGGG -3'
(R):5'- AGAGCGGCTACCTGTACTG -3'
Posted On 2015-07-21