Incidental Mutation 'R5963:Cherp'
ID 471880
Institutional Source Beutler Lab
Gene Symbol Cherp
Ensembl Gene ENSMUSG00000052488
Gene Name calcium homeostasis endoplasmic reticulum protein
Synonyms DAN16, SCAF6, D8Wsu96e, 5730408I11Rik
MMRRC Submission 044148-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R5963 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73214333-73229070 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 73215379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064853] [ENSMUST00000079510] [ENSMUST00000121902] [ENSMUST00000212991]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000064853
SMART Domains Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794

DomainStartEndE-ValueType
low complexity region 200 216 N/A INTRINSIC
low complexity region 250 262 N/A INTRINSIC
low complexity region 320 333 N/A INTRINSIC
low complexity region 374 383 N/A INTRINSIC
low complexity region 421 432 N/A INTRINSIC
Pfam:DUF4614 438 608 2e-71 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000079510
AA Change: Q904K
SMART Domains Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: Q904K

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 probably benign
Transcript: ENSMUST00000121902
SMART Domains Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794

DomainStartEndE-ValueType
low complexity region 200 216 N/A INTRINSIC
low complexity region 250 262 N/A INTRINSIC
low complexity region 320 333 N/A INTRINSIC
low complexity region 387 398 N/A INTRINSIC
Pfam:DUF4614 400 575 1.3e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139130
Predicted Effect unknown
Transcript: ENSMUST00000212991
AA Change: Q893K
Meta Mutation Damage Score 0.2392 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 A G 7: 97,029,037 (GRCm39) K131E probably benign Het
Ank3 T A 10: 69,823,056 (GRCm39) L575* probably null Het
Aqr T C 2: 113,957,442 (GRCm39) T819A probably damaging Het
Bbs2 A T 8: 94,807,659 (GRCm39) S407T probably benign Het
Bmper T A 9: 23,286,889 (GRCm39) C272S probably benign Het
Btbd9 C T 17: 30,553,192 (GRCm39) probably null Het
C5ar1 A G 7: 15,982,747 (GRCm39) V91A possibly damaging Het
Ccdc138 A G 10: 58,411,579 (GRCm39) H649R possibly damaging Het
Cfap43 A T 19: 47,734,013 (GRCm39) V1451E probably benign Het
Cfap46 T A 7: 139,231,511 (GRCm39) M901L probably damaging Het
D430041D05Rik C T 2: 104,078,630 (GRCm39) V1229I possibly damaging Het
Fat4 A C 3: 39,064,696 (GRCm39) D4884A probably damaging Het
Fcrl5 T C 3: 87,351,480 (GRCm39) F243L probably damaging Het
Garem1 T A 18: 21,262,487 (GRCm39) I776F probably benign Het
Gpr87 T A 3: 59,086,690 (GRCm39) R272* probably null Het
Gsdmc A T 15: 63,651,965 (GRCm39) probably null Het
Hydin T A 8: 111,220,926 (GRCm39) F1441I possibly damaging Het
Ints11 T A 4: 155,957,369 (GRCm39) C63* probably null Het
Kdm4b A T 17: 56,706,732 (GRCm39) T908S probably damaging Het
Lipn A G 19: 34,058,700 (GRCm39) D304G probably damaging Het
Man2a1 T G 17: 64,982,117 (GRCm39) N544K probably benign Het
Mapkapk5 G T 5: 121,676,544 (GRCm39) H66N probably damaging Het
Mog G A 17: 37,323,240 (GRCm39) R233* probably null Het
Mrps24 A T 11: 5,657,481 (GRCm39) probably benign Het
Nom1 T C 5: 29,642,768 (GRCm39) L423P probably damaging Het
Or51b6 T A 7: 103,556,168 (GRCm39) V174E probably benign Het
Pcdha1 T A 18: 37,064,224 (GRCm39) V296E probably damaging Het
Pdcd2 T C 17: 15,746,656 (GRCm39) K168E possibly damaging Het
Pdcd2 G T 17: 15,746,657 (GRCm39) H167Q probably damaging Het
Pla2g12b T A 10: 59,239,780 (GRCm39) V63D probably damaging Het
Pnn C T 12: 59,114,617 (GRCm39) R56* probably null Het
Primpol T A 8: 47,046,615 (GRCm39) E227V possibly damaging Het
Rad54l A T 4: 115,967,584 (GRCm39) W233R probably damaging Het
Rims2 A T 15: 39,300,578 (GRCm39) D103V probably damaging Het
Rttn T C 18: 89,091,819 (GRCm39) S1511P probably benign Het
Septin5 T C 16: 18,442,962 (GRCm39) probably null Het
Simc1 T A 13: 54,673,632 (GRCm39) I660K possibly damaging Het
Slc15a5 A G 6: 138,056,691 (GRCm39) L75P probably damaging Het
Slc9a2 A G 1: 40,721,196 (GRCm39) S55G possibly damaging Het
Slit3 C T 11: 35,591,063 (GRCm39) R1292C probably damaging Het
Slitrk3 A G 3: 72,958,046 (GRCm39) V242A probably benign Het
St14 A T 9: 31,017,853 (GRCm39) probably benign Het
Tnnt2 T C 1: 135,771,600 (GRCm39) probably benign Het
Traf5 G A 1: 191,731,977 (GRCm39) T288I probably benign Het
Trerf1 C T 17: 47,625,263 (GRCm39) noncoding transcript Het
Vegfc A G 8: 54,634,319 (GRCm39) N333D probably benign Het
Vmn1r65 T A 7: 6,011,608 (GRCm39) I209F probably damaging Het
Vps51 A G 19: 6,118,320 (GRCm39) L725P probably damaging Het
Vps8 T C 16: 21,288,871 (GRCm39) I408T possibly damaging Het
Wdr72 T C 9: 74,052,310 (GRCm39) Y114H probably damaging Het
Ybx2 A G 11: 69,831,918 (GRCm39) E164G probably damaging Het
Zcchc14 A T 8: 122,355,362 (GRCm39) probably benign Het
Zfp383 A G 7: 29,615,103 (GRCm39) T453A possibly damaging Het
Zfp84 G T 7: 29,476,378 (GRCm39) G357C probably damaging Het
Zmynd11 G T 13: 9,745,931 (GRCm39) probably benign Het
Other mutations in Cherp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Cherp APN 8 73,222,090 (GRCm39) missense probably damaging 0.97
IGL00955:Cherp APN 8 73,224,038 (GRCm39) missense probably damaging 0.99
R0452:Cherp UTSW 8 73,215,366 (GRCm39) unclassified probably benign
R0479:Cherp UTSW 8 73,216,991 (GRCm39) missense possibly damaging 0.66
R0594:Cherp UTSW 8 73,216,246 (GRCm39) critical splice donor site probably null
R1734:Cherp UTSW 8 73,223,932 (GRCm39) critical splice donor site probably null
R1781:Cherp UTSW 8 73,221,615 (GRCm39) missense probably damaging 1.00
R1793:Cherp UTSW 8 73,216,994 (GRCm39) missense probably benign 0.12
R2012:Cherp UTSW 8 73,228,613 (GRCm39) missense probably damaging 0.98
R2845:Cherp UTSW 8 73,220,247 (GRCm39) missense probably damaging 0.99
R3612:Cherp UTSW 8 73,215,840 (GRCm39) unclassified probably benign
R3693:Cherp UTSW 8 73,221,755 (GRCm39) small deletion probably benign
R3899:Cherp UTSW 8 73,223,780 (GRCm39) missense possibly damaging 0.63
R3900:Cherp UTSW 8 73,223,780 (GRCm39) missense possibly damaging 0.63
R3970:Cherp UTSW 8 73,223,795 (GRCm39) missense possibly damaging 0.60
R4915:Cherp UTSW 8 73,222,241 (GRCm39) missense probably damaging 1.00
R5512:Cherp UTSW 8 73,217,110 (GRCm39) missense possibly damaging 0.66
R5556:Cherp UTSW 8 73,221,824 (GRCm39) missense probably damaging 0.99
R5739:Cherp UTSW 8 73,221,659 (GRCm39) small deletion probably benign
R5768:Cherp UTSW 8 73,216,957 (GRCm39) missense probably damaging 0.98
R5824:Cherp UTSW 8 73,216,102 (GRCm39) unclassified probably benign
R6255:Cherp UTSW 8 73,224,725 (GRCm39) missense probably damaging 0.99
R7145:Cherp UTSW 8 73,222,230 (GRCm39) missense
R7538:Cherp UTSW 8 73,216,263 (GRCm39) missense
R7578:Cherp UTSW 8 73,218,102 (GRCm39) missense
R8329:Cherp UTSW 8 73,215,852 (GRCm39) missense
R9717:Cherp UTSW 8 73,216,920 (GRCm39) critical splice donor site probably null
RF001:Cherp UTSW 8 73,215,893 (GRCm39) frame shift probably null
RF007:Cherp UTSW 8 73,215,903 (GRCm39) small deletion probably benign
RF036:Cherp UTSW 8 73,215,891 (GRCm39) frame shift probably null
RF036:Cherp UTSW 8 73,215,888 (GRCm39) frame shift probably null
RF059:Cherp UTSW 8 73,215,899 (GRCm39) frame shift probably null
T0722:Cherp UTSW 8 73,215,878 (GRCm39) small deletion probably benign
T0975:Cherp UTSW 8 73,215,878 (GRCm39) small deletion probably benign
Z1176:Cherp UTSW 8 73,224,797 (GRCm39) missense
Z1177:Cherp UTSW 8 73,228,979 (GRCm39) start gained probably benign
Z1177:Cherp UTSW 8 73,216,760 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AACAGGGATGTCACCTTCAC -3'
(R):5'- GCCATCAAATGCTGGTGAAG -3'

Sequencing Primer
(F):5'- AACAGGGATGTCACCTTCACCTTTC -3'
(R):5'- GTGAGTATACCCAGACCAGTGC -3'
Posted On 2017-03-31