Incidental Mutation 'R2656:Shisa7'
ID252748
Institutional Source Beutler Lab
Gene Symbol Shisa7
Ensembl Gene ENSMUSG00000053550
Gene Nameshisa family member 7
SynonymsD430041B17Rik
MMRRC Submission 040431-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2656 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location4825552-4844696 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4829819 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 481 (H481R)
Ref Sequence ENSEMBL: ENSMUSP00000112423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066041] [ENSMUST00000117452] [ENSMUST00000119433]
Predicted Effect possibly damaging
Transcript: ENSMUST00000066041
AA Change: H498R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064886
Gene: ENSMUSG00000053550
AA Change: H498R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 32 61 N/A INTRINSIC
Pfam:Shisa 82 156 1.7e-24 PFAM
low complexity region 449 462 N/A INTRINSIC
low complexity region 466 506 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000117452
AA Change: H315R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112405
Gene: ENSMUSG00000053550
AA Change: H315R

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 266 279 N/A INTRINSIC
low complexity region 283 323 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119433
AA Change: H481R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112423
Gene: ENSMUSG00000053550
AA Change: H481R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 32 61 N/A INTRINSIC
Pfam:Shisa 81 150 5.8e-21 PFAM
low complexity region 432 445 N/A INTRINSIC
low complexity region 449 489 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157068
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout results in impaired expression of contextual fear memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,117,696 C655R probably damaging Het
Adgrf3 A T 5: 30,196,438 V864D possibly damaging Het
Angptl3 A G 4: 99,037,964 I444V probably benign Het
Atp8b2 C T 3: 89,941,758 A1090T probably benign Het
BC005561 A G 5: 104,519,315 I568V probably benign Het
Bcl2l2 C T 14: 54,885,432 R47C probably benign Het
Ces2a G A 8: 104,736,134 M118I probably benign Het
Cyp4a29 T G 4: 115,249,724 L193V possibly damaging Het
Dpp8 A G 9: 65,080,804 Y877C probably damaging Het
Enpp6 C T 8: 47,082,418 R33* probably null Het
Fsip2 G A 2: 82,979,045 D1903N possibly damaging Het
Ggt1 T A 10: 75,581,385 Y5* probably null Het
Gm14412 A T 2: 177,315,200 C301S unknown Het
Gpatch2l T A 12: 86,288,810 D428E probably damaging Het
Grin2b C T 6: 135,733,429 G1040S probably damaging Het
Has2 T C 15: 56,681,828 D126G possibly damaging Het
Itgam T G 7: 128,116,815 L1120R probably null Het
Kank4 T C 4: 98,778,957 N418D probably damaging Het
Kcnk3 T C 5: 30,622,671 V355A possibly damaging Het
Lonrf2 C T 1: 38,815,960 probably null Het
Lrp1b A T 2: 41,511,581 C240S probably damaging Het
Mapk8ip3 T G 17: 24,912,807 E386A probably damaging Het
Mtmr14 A G 6: 113,240,366 I80V probably benign Het
Nav2 A C 7: 49,545,942 D961A probably damaging Het
Nmt2 A G 2: 3,307,013 D107G probably benign Het
Nsd1 A G 13: 55,246,868 K761E probably damaging Het
Ogdh A G 11: 6,348,678 T641A probably benign Het
Ogdhl T G 14: 32,332,826 F244V possibly damaging Het
Olfr1447 A G 19: 12,901,666 I38T probably benign Het
Olfr1454 A T 19: 13,063,984 H191L probably benign Het
Olfr639 G A 7: 104,011,865 S279L probably damaging Het
Olfr699 T A 7: 106,790,513 T163S probably damaging Het
Pfpl T C 19: 12,430,236 I617T probably benign Het
Ppfia2 T G 10: 106,865,407 probably null Het
Prickle1 T C 15: 93,503,370 E411G probably benign Het
Prpsap2 C A 11: 61,730,225 M343I probably benign Het
Prpsap2 A G 11: 61,752,891 V72A probably benign Het
Ranbp17 A T 11: 33,243,122 D977E probably benign Het
Rin1 T C 19: 5,052,176 S238P probably damaging Het
Scap C T 9: 110,374,019 R254W probably damaging Het
Scn3a T C 2: 65,526,518 D194G probably damaging Het
Slc6a6 T C 6: 91,741,048 Y323H probably damaging Het
Tlr9 T C 9: 106,223,941 S144P probably benign Het
Tmem69 T A 4: 116,553,590 K61M probably damaging Het
Ttc21a A G 9: 119,941,265 D134G probably damaging Het
Ttn A G 2: 76,894,270 probably benign Het
Vwf A G 6: 125,555,361 T26A probably benign Het
Zbtb16 A T 9: 48,832,688 I108N probably damaging Het
Zc3h7b T A 15: 81,780,430 Y497N probably damaging Het
Zfp652 A G 11: 95,749,329 S27G probably damaging Het
Zfp808 A G 13: 62,172,852 T632A possibly damaging Het
Znhit6 T C 3: 145,578,169 probably null Het
Other mutations in Shisa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01885:Shisa7 APN 7 4830826 missense probably damaging 1.00
R0680:Shisa7 UTSW 7 4831723 missense probably benign 0.00
R3912:Shisa7 UTSW 7 4830240 nonsense probably null
R4752:Shisa7 UTSW 7 4834250 missense possibly damaging 0.73
R5411:Shisa7 UTSW 7 4829976 missense probably damaging 1.00
R7358:Shisa7 UTSW 7 4829921 missense probably benign 0.25
Z1176:Shisa7 UTSW 7 4836261 missense not run
Z1177:Shisa7 UTSW 7 4836618 missense not run
Predicted Primers PCR Primer
(F):5'- ACTTCGTTCTTGCTGGCAG -3'
(R):5'- TATGAGTTCACGTTGCCTCGAG -3'

Sequencing Primer
(F):5'- TTGCTGGCAGTGCGCAG -3'
(R):5'- AGGAACACCTGCTGCTGTC -3'
Posted On2014-12-04