Incidental Mutation 'IGL00955:Cherp'
ID28052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cherp
Ensembl Gene ENSMUSG00000052488
Gene Namecalcium homeostasis endoplasmic reticulum protein
SynonymsDAN16, SCAF6, D8Wsu96e, 5730408I11Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL00955
Quality Score
Status
Chromosome8
Chromosomal Location72460489-72475226 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 72470194 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 140 (E140K)
Ref Sequence ENSEMBL: ENSMUSP00000078469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079510] [ENSMUST00000212991]
Predicted Effect probably damaging
Transcript: ENSMUST00000079510
AA Change: E140K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: E140K

DomainStartEndE-ValueType
SWAP 13 65 9.76e-24 SMART
low complexity region 78 100 N/A INTRINSIC
low complexity region 107 124 N/A INTRINSIC
RPR 156 286 5.32e-2 SMART
coiled coil region 310 334 N/A INTRINSIC
low complexity region 362 385 N/A INTRINSIC
low complexity region 409 419 N/A INTRINSIC
low complexity region 439 463 N/A INTRINSIC
low complexity region 488 500 N/A INTRINSIC
low complexity region 526 560 N/A INTRINSIC
low complexity region 565 580 N/A INTRINSIC
low complexity region 591 606 N/A INTRINSIC
low complexity region 725 736 N/A INTRINSIC
low complexity region 743 829 N/A INTRINSIC
G_patch 850 900 9.8e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212870
Predicted Effect probably damaging
Transcript: ENSMUST00000212991
AA Change: E140K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,311,242 Q167L probably benign Het
Ces3a T A 8: 105,050,570 V175E probably damaging Het
Clpx A T 9: 65,324,270 T546S probably damaging Het
Csgalnact2 A G 6: 118,129,264 L31P probably damaging Het
Cxcr1 A T 1: 74,192,220 F214L probably benign Het
Cyp2c67 T A 19: 39,643,385 T123S possibly damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dzank1 G A 2: 144,490,174 T414I probably benign Het
Erich3 A G 3: 154,748,519 I641V probably benign Het
Gtf2e1 A T 16: 37,535,920 D83E possibly damaging Het
Hars2 T C 18: 36,789,357 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh2 T C 5: 24,324,966 D372G probably damaging Het
Kcnk2 A T 1: 189,243,014 I264N probably damaging Het
Kctd4 A G 14: 75,963,228 D213G probably damaging Het
Lhx9 T C 1: 138,828,680 T323A possibly damaging Het
Lilra6 C A 7: 3,911,404 probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Mov10l1 A G 15: 88,994,989 Y184C probably damaging Het
Mrpl24 T A 3: 87,922,219 L91* probably null Het
Mup11 C T 4: 60,659,550 R175H probably benign Het
Nbea T C 3: 56,005,472 K965E possibly damaging Het
Olfr598 C A 7: 103,329,321 H278Q probably damaging Het
Papss1 G A 3: 131,599,949 E252K probably benign Het
Robo2 A T 16: 74,015,972 L278Q probably damaging Het
Sned1 A T 1: 93,274,403 I638F probably damaging Het
Spin1 T C 13: 51,144,541 probably null Het
Taar9 T C 10: 24,109,531 T2A probably benign Het
Tbc1d8b T C X: 139,725,880 probably null Het
Other mutations in Cherp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Cherp APN 8 72468246 missense probably damaging 0.97
R0452:Cherp UTSW 8 72461522 unclassified probably benign
R0479:Cherp UTSW 8 72463147 missense possibly damaging 0.66
R0594:Cherp UTSW 8 72462402 critical splice donor site probably null
R1734:Cherp UTSW 8 72470088 critical splice donor site probably null
R1781:Cherp UTSW 8 72467771 missense probably damaging 1.00
R1793:Cherp UTSW 8 72463150 missense probably benign 0.12
R2012:Cherp UTSW 8 72474769 missense probably damaging 0.98
R2845:Cherp UTSW 8 72466403 missense probably damaging 0.99
R3612:Cherp UTSW 8 72461996 unclassified probably benign
R3693:Cherp UTSW 8 72467911 small deletion probably benign
R3899:Cherp UTSW 8 72469936 missense possibly damaging 0.63
R3900:Cherp UTSW 8 72469936 missense possibly damaging 0.63
R3970:Cherp UTSW 8 72469951 missense possibly damaging 0.60
R4915:Cherp UTSW 8 72468397 missense probably damaging 1.00
R5512:Cherp UTSW 8 72463266 missense possibly damaging 0.66
R5556:Cherp UTSW 8 72467980 missense probably damaging 0.99
R5739:Cherp UTSW 8 72467815 small deletion probably benign
R5768:Cherp UTSW 8 72463113 missense probably damaging 0.98
R5824:Cherp UTSW 8 72462258 unclassified probably benign
R5963:Cherp UTSW 8 72461535 unclassified probably benign
R6255:Cherp UTSW 8 72470881 missense probably damaging 0.99
R7145:Cherp UTSW 8 72468386 missense
R7538:Cherp UTSW 8 72462419 missense
R7578:Cherp UTSW 8 72464258 missense
R8329:Cherp UTSW 8 72462008 missense
RF001:Cherp UTSW 8 72462049 frame shift probably null
RF007:Cherp UTSW 8 72462059 small deletion probably benign
RF036:Cherp UTSW 8 72462044 frame shift probably null
RF036:Cherp UTSW 8 72462047 frame shift probably null
RF059:Cherp UTSW 8 72462055 frame shift probably null
T0722:Cherp UTSW 8 72462034 small deletion probably benign
T0975:Cherp UTSW 8 72462034 small deletion probably benign
Z1176:Cherp UTSW 8 72470953 missense
Z1177:Cherp UTSW 8 72462916 missense
Z1177:Cherp UTSW 8 72475135 start gained probably benign
Posted On2013-04-17