Incidental Mutation 'IGL01392:Calr4'
ID79267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calr4
Ensembl Gene ENSMUSG00000028558
Gene Namecalreticulin 4
Synonyms4933403L16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL01392
Quality Score
Status
Chromosome4
Chromosomal Location109234485-109254571 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109253874 bp
ZygosityHeterozygous
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]
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: 58,500,546 V2A probably benign Het
Adgrf5 A T 17: 43,450,012 Q866L probably benign Het
Ankrd13a A G 5: 114,797,853 E295G probably benign Het
Arid1a T C 4: 133,681,037 D2053G unknown Het
Cmya5 T C 13: 93,089,206 S3125G probably damaging Het
Dnah7b T C 1: 46,126,788 Y538H probably damaging Het
Eri3 T C 4: 117,589,159 probably null Het
Fmo6 T A 1: 162,930,011 R63* probably null Het
Gm7168 G A 17: 13,948,907 D179N probably benign Het
Gm8979 T C 7: 106,083,755 I98V probably benign Het
Got1l1 T C 8: 27,197,991 T337A probably damaging Het
Igf2r A G 17: 12,704,349 M1191T probably benign Het
Ighv1-54 A G 12: 115,193,937 L30P probably damaging Het
Igkv8-30 A G 6: 70,117,347 S27P probably benign Het
Kcnab2 A T 4: 152,393,797 V335E possibly damaging Het
Klf12 A T 14: 100,149,757 I3N probably damaging Het
Megf8 T C 7: 25,363,749 V2510A probably benign Het
Mme A G 3: 63,362,046 D592G probably damaging Het
Myh1 A G 11: 67,221,301 N1727S probably benign Het
Ncor1 A G 11: 62,340,594 S796P probably damaging Het
Nlrp14 A G 7: 107,197,913 probably benign Het
Olfr1443 T A 19: 12,680,803 Y232N probably benign Het
Olfr508 C T 7: 108,630,678 R229C probably benign Het
Olfr564 T A 7: 102,803,854 Y125* probably null Het
Plekhm2 A G 4: 141,642,426 V86A probably damaging Het
Popdc2 G T 16: 38,374,131 V305L probably benign Het
Prpmp5 T C 6: 132,312,420 N147S unknown Het
Rttn C T 18: 88,995,613 H469Y probably benign Het
Slc2a12 T C 10: 22,664,684 V146A probably damaging Het
Sptlc3 A G 2: 139,546,421 E111G possibly damaging Het
Zfp108 T C 7: 24,258,447 probably benign Het
Zfp719 T A 7: 43,591,130 F714Y probably damaging Het
Other mutations in Calr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Calr4 APN 4 109244115 missense probably damaging 1.00
IGL01676:Calr4 APN 4 109244250 missense probably damaging 0.99
IGL02587:Calr4 APN 4 109238937 missense possibly damaging 0.76
PIT4576001:Calr4 UTSW 4 109235856 missense possibly damaging 0.82
R0525:Calr4 UTSW 4 109242264 splice site probably benign
R1444:Calr4 UTSW 4 109246241 missense possibly damaging 0.76
R1899:Calr4 UTSW 4 109246293 critical splice donor site probably null
R4561:Calr4 UTSW 4 109246182 missense probably damaging 0.97
R5001:Calr4 UTSW 4 109238982 critical splice donor site probably null
R5014:Calr4 UTSW 4 109235797 nonsense probably null
R5088:Calr4 UTSW 4 109244662 intron probably benign
R5267:Calr4 UTSW 4 109244076 missense probably damaging 1.00
R6175:Calr4 UTSW 4 109244245 missense probably benign 0.03
R6262:Calr4 UTSW 4 109251367 missense probably damaging 1.00
R6795:Calr4 UTSW 4 109244788 missense probably damaging 1.00
R7099:Calr4 UTSW 4 109242229 missense probably benign 0.01
R7202:Calr4 UTSW 4 109244057 missense possibly damaging 0.94
R7576:Calr4 UTSW 4 109238964 missense probably benign 0.37
R7661:Calr4 UTSW 4 109253754 missense probably benign
Z1177:Calr4 UTSW 4 109235733 missense probably benign 0.02
Posted On2013-11-05