Incidental Mutation 'T0975:Cherp'
ID 262162
Institutional Source Beutler Lab
Gene Symbol Cherp
Ensembl Gene ENSMUSG00000052488
Gene Name calcium homeostasis endoplasmic reticulum protein
Synonyms DAN16, SCAF6, D8Wsu96e, 5730408I11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # T0975 (G3) of strain 714
Quality Score 154
Status Not validated
Chromosome 8
Chromosomal Location 73214333-73229070 bp(-) (GRCm39)
Type of Mutation small deletion (2 aa in frame mutation)
DNA Base Change (assembly) TTGGACCTGGACCTGGACCTGGACCTGGA to TTGGACCTGGACCTGGACCTGGA at 73215878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148273 (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 probably benign
Transcript: ENSMUST00000079510
SMART Domains Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488

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 probably benign
Transcript: ENSMUST00000212991
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik TAA TAAA 11: 3,887,945 (GRCm39) probably null Het
4930556J24Rik C T 11: 3,926,324 (GRCm39) A27T unknown Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Azin2 A G 4: 128,839,927 (GRCm39) Y222H probably benign Het
Bpifb5 C A 2: 154,071,384 (GRCm39) probably null Het
Castor1 G C 11: 4,170,445 (GRCm39) G147A probably benign Het
Ccdc157 C T 11: 4,096,246 (GRCm39) A455T probably damaging Het
Ccng1 A C 11: 40,644,871 (GRCm39) S9A probably benign Het
Cfh T C 1: 140,082,336 (GRCm39) T164A probably benign Het
Chrng T C 1: 87,138,348 (GRCm39) S380P probably benign Het
Clspn ACGGCGGCGGCGGCG ACGGCGGCGGCGGCGGCGGCG 4: 126,460,230 (GRCm39) probably benign Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cxxc1 C T 18: 74,353,992 (GRCm39) R593C probably damaging Het
Dlgap1 T C 17: 70,823,950 (GRCm39) S312P possibly damaging Het
Dnah10 A G 5: 124,840,130 (GRCm39) S1255G probably benign Het
Dpep1 A T 8: 123,927,727 (GRCm39) S388C probably damaging Het
Emid1 T C 11: 5,094,386 (GRCm39) T42A probably damaging Het
Emid1 A C 11: 5,078,884 (GRCm39) L353V probably benign Het
Epn3 A G 11: 94,382,733 (GRCm39) probably null Het
Fam124b T C 1: 80,190,843 (GRCm39) E180G probably benign Het
Fam135b T G 15: 71,335,734 (GRCm39) T487P probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm9972 GA GAA 11: 42,927,597 (GRCm39) probably null Het
Hmmr G C 11: 40,614,243 (GRCm39) N148K probably damaging Het
Homez C T 14: 55,094,796 (GRCm39) R304K possibly damaging Het
Ifngr1 G A 10: 19,485,221 (GRCm39) V407M probably damaging Het
Inpp5j G T 11: 3,452,527 (GRCm39) T241N possibly damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Kremen1 C T 11: 5,145,105 (GRCm39) A424T probably benign Het
Mat2b G A 11: 40,570,918 (GRCm39) T302I probably benign Het
Mtmr3 C T 11: 4,438,441 (GRCm39) R671K probably benign Het
Nacad A G 11: 6,551,632 (GRCm39) C520R probably benign Het
Nacad GCAGGGTCAGGGTC GCAGGGTCAGGGTCAGGGTC 11: 6,549,750 (GRCm39) probably benign Het
Nacad T C 11: 6,551,622 (GRCm39) N523S probably benign Het
Nefh G A 11: 4,890,151 (GRCm39) P823S probably benign Het
Nfrkb G C 9: 31,308,379 (GRCm39) A230P probably benign Het
Nlrp4a A G 7: 26,149,062 (GRCm39) E223G probably damaging Het
Notch3 T A 17: 32,365,391 (GRCm39) Y1107F probably damaging Het
Or10ak9 G T 4: 118,726,500 (GRCm39) R174M probably benign Het
Or13g1 A T 7: 85,955,492 (GRCm39) Y276* probably null Het
Or6c35 A G 10: 129,169,314 (GRCm39) D188G probably benign Het
Osm A G 11: 4,189,588 (GRCm39) D124G probably benign Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Sytl1 TCTGC TC 4: 132,984,305 (GRCm39) probably benign Het
Tcn2 G C 11: 3,873,487 (GRCm39) F286L possibly damaging Het
Tg T C 15: 66,560,712 (GRCm39) S10P probably benign Het
Tmprss7 C T 16: 45,501,096 (GRCm39) R235Q probably benign Het
Tns3 G A 11: 8,499,100 (GRCm39) probably benign Het
Tns3 G T 11: 8,401,146 (GRCm39) L1051M probably benign Het
Tns3 T G 11: 8,429,518 (GRCm39) E806A probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Txnrd2 A G 16: 18,294,315 (GRCm39) H436R probably damaging Het
Ubr4 C T 4: 139,179,092 (GRCm39) P2001S probably damaging Het
Vmn2r23 T A 6: 123,690,120 (GRCm39) M332K probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zfyve21 A G 12: 111,794,067 (GRCm39) D206G probably damaging Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign Het
Zpld2 GTG GTGCTG 4: 133,929,940 (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
R5963:Cherp UTSW 8 73,215,379 (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
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
Posted On 2015-02-04