Incidental Mutation 'IGL01392:Calr4'
ID 79267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calr4
Ensembl Gene ENSMUSG00000028558
Gene Name calreticulin 4
Synonyms 4933403L16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL01392
Quality Score
Status
Chromosome 4
Chromosomal Location 109091682-109111768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109111071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 272 (E272G)
Ref Sequence ENSEMBL: ENSMUSP00000102242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030285] [ENSMUST00000106628] [ENSMUST00000106629] [ENSMUST00000106631]
AlphaFold Q3TQS0
Predicted Effect probably benign
Transcript: ENSMUST00000030285
AA Change: E379G

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030285
Gene: ENSMUSG00000028558
AA Change: E379G

DomainStartEndE-ValueType
Pfam:Calreticulin 11 246 7e-61 PFAM
Pfam:Calreticulin 243 318 1.7e-21 PFAM
coiled coil region 336 416 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106628
AA Change: E272G

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102239
Gene: ENSMUSG00000028558
AA Change: E272G

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106629
AA Change: E272G

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102240
Gene: ENSMUSG00000028558
AA Change: E272G

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106631
AA Change: E272G

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102242
Gene: ENSMUSG00000028558
AA Change: E272G

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141555
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,390,558 (GRCm39) V2A probably benign Het
Adgrf5 A T 17: 43,760,903 (GRCm39) Q866L probably benign Het
Ankrd13a A G 5: 114,935,914 (GRCm39) E295G probably benign Het
Arid1a T C 4: 133,408,348 (GRCm39) D2053G unknown Het
Cmya5 T C 13: 93,225,714 (GRCm39) S3125G probably damaging Het
Dnah7b T C 1: 46,165,948 (GRCm39) Y538H probably damaging Het
Eri3 T C 4: 117,446,356 (GRCm39) probably null Het
Fmo6 T A 1: 162,757,580 (GRCm39) R63* probably null Het
Gm7168 G A 17: 14,169,169 (GRCm39) D179N probably benign Het
Got1l1 T C 8: 27,688,019 (GRCm39) T337A probably damaging Het
Gvin-ps3 T C 7: 105,682,962 (GRCm39) I98V probably benign Het
Igf2r A G 17: 12,923,236 (GRCm39) M1191T probably benign Het
Ighv1-54 A G 12: 115,157,557 (GRCm39) L30P probably damaging Het
Igkv8-30 A G 6: 70,094,331 (GRCm39) S27P probably benign Het
Kcnab2 A T 4: 152,478,254 (GRCm39) V335E possibly damaging Het
Klf12 A T 14: 100,387,193 (GRCm39) I3N probably damaging Het
Megf8 T C 7: 25,063,174 (GRCm39) V2510A probably benign Het
Mme A G 3: 63,269,467 (GRCm39) D592G probably damaging Het
Myh1 A G 11: 67,112,127 (GRCm39) N1727S probably benign Het
Ncor1 A G 11: 62,231,420 (GRCm39) S796P probably damaging Het
Nlrp14 A G 7: 106,797,120 (GRCm39) probably benign Het
Or51f23 T A 7: 102,453,061 (GRCm39) Y125* probably null Het
Or5b95 T A 19: 12,658,167 (GRCm39) Y232N probably benign Het
Or5p80 C T 7: 108,229,885 (GRCm39) R229C probably benign Het
Plekhm2 A G 4: 141,369,737 (GRCm39) V86A probably damaging Het
Popdc2 G T 16: 38,194,493 (GRCm39) V305L probably benign Het
Prb1b T C 6: 132,289,383 (GRCm39) N147S unknown Het
Rttn C T 18: 89,013,737 (GRCm39) H469Y probably benign Het
Slc2a12 T C 10: 22,540,583 (GRCm39) V146A probably damaging Het
Sptlc3 A G 2: 139,388,341 (GRCm39) E111G possibly damaging Het
Zfp108 T C 7: 23,957,872 (GRCm39) probably benign Het
Zfp719 T A 7: 43,240,554 (GRCm39) F714Y probably damaging Het
Other mutations in Calr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Calr4 APN 4 109,101,312 (GRCm39) missense probably damaging 1.00
IGL01676:Calr4 APN 4 109,101,447 (GRCm39) missense probably damaging 0.99
IGL02587:Calr4 APN 4 109,096,134 (GRCm39) missense possibly damaging 0.76
PIT4576001:Calr4 UTSW 4 109,093,053 (GRCm39) missense possibly damaging 0.82
R0525:Calr4 UTSW 4 109,099,461 (GRCm39) splice site probably benign
R1444:Calr4 UTSW 4 109,103,438 (GRCm39) missense possibly damaging 0.76
R1899:Calr4 UTSW 4 109,103,490 (GRCm39) critical splice donor site probably null
R4561:Calr4 UTSW 4 109,103,379 (GRCm39) missense probably damaging 0.97
R5001:Calr4 UTSW 4 109,096,179 (GRCm39) critical splice donor site probably null
R5014:Calr4 UTSW 4 109,092,994 (GRCm39) nonsense probably null
R5088:Calr4 UTSW 4 109,101,859 (GRCm39) intron probably benign
R5267:Calr4 UTSW 4 109,101,273 (GRCm39) missense probably damaging 1.00
R6175:Calr4 UTSW 4 109,101,442 (GRCm39) missense probably benign 0.03
R6262:Calr4 UTSW 4 109,108,564 (GRCm39) missense probably damaging 1.00
R6795:Calr4 UTSW 4 109,101,985 (GRCm39) missense probably damaging 1.00
R7099:Calr4 UTSW 4 109,099,426 (GRCm39) missense probably benign 0.01
R7202:Calr4 UTSW 4 109,101,254 (GRCm39) missense possibly damaging 0.94
R7576:Calr4 UTSW 4 109,096,161 (GRCm39) missense probably benign 0.37
R7661:Calr4 UTSW 4 109,110,951 (GRCm39) missense probably benign
Z1177:Calr4 UTSW 4 109,092,930 (GRCm39) missense probably benign 0.02
Posted On 2013-11-05