Incidental Mutation 'IGL03131:Calml4'
ID410325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calml4
Ensembl Gene ENSMUSG00000032246
Gene Namecalmodulin-like 4
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03131
Quality Score
Status
Chromosome9
Chromosomal Location62858080-62875921 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62875483 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 77 (D77G)
Ref Sequence ENSEMBL: ENSMUSP00000132298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034777] [ENSMUST00000098651] [ENSMUST00000163820] [ENSMUST00000213643] [ENSMUST00000214633] [ENSMUST00000215870] [ENSMUST00000215968]
Predicted Effect probably benign
Transcript: ENSMUST00000034777
AA Change: D124G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034777
Gene: ENSMUSG00000032246
AA Change: D124G

DomainStartEndE-ValueType
EFh 12 40 2.9e1 SMART
EFh 48 76 2.42e0 SMART
EFh 85 113 3.31e0 SMART
Blast:EFh 121 149 3e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000098651
SMART Domains Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405

DomainStartEndE-ValueType
SAP 11 45 5.3e-5 SMART
low complexity region 82 95 N/A INTRINSIC
low complexity region 103 116 N/A INTRINSIC
Pfam:PINIT 135 286 9.6e-41 PFAM
Pfam:zf-MIZ 331 380 1.4e-23 PFAM
low complexity region 465 474 N/A INTRINSIC
low complexity region 482 491 N/A INTRINSIC
low complexity region 605 621 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163820
AA Change: D77G

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132298
Gene: ENSMUSG00000032246
AA Change: D77G

DomainStartEndE-ValueType
PDB:3CLN|A 7 100 9e-23 PDB
SCOP:d2pvba_ 17 100 3e-13 SMART
Blast:EFh 38 66 2e-10 BLAST
Blast:EFh 74 102 6e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000213643
AA Change: D52G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000214633
Predicted Effect probably benign
Transcript: ENSMUST00000215501
Predicted Effect probably benign
Transcript: ENSMUST00000215870
Predicted Effect probably benign
Transcript: ENSMUST00000215968
AA Change: D88G

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,679,602 R135S unknown Het
A1bg T C 15: 60,919,756 Y277C probably damaging Het
Abca12 A T 1: 71,346,702 F252L probably benign Het
Abcd3 A T 3: 121,781,991 probably benign Het
Acvr2b C A 9: 119,431,284 F364L possibly damaging Het
Adamts12 T C 15: 11,345,564 C1564R probably damaging Het
Agap3 A G 5: 24,477,132 T392A probably benign Het
Ano1 A G 7: 144,603,585 F767L possibly damaging Het
Atg10 C A 13: 90,937,293 R179I probably null Het
Bsph1 A T 7: 13,473,087 K129N probably damaging Het
Cc2d1a T A 8: 84,143,427 K153M probably damaging Het
Col4a2 G A 8: 11,425,979 V672I probably benign Het
Crnkl1 T C 2: 145,932,258 K95R probably benign Het
Crtap T C 9: 114,380,004 D324G possibly damaging Het
Csmd1 C T 8: 16,088,217 G1607E probably damaging Het
Dcbld2 T G 16: 58,451,688 I369R probably benign Het
Dmc1 T A 15: 79,568,691 I246L probably benign Het
Dock1 G T 7: 134,874,183 V896L possibly damaging Het
Eftud2 G A 11: 102,870,183 T112M probably damaging Het
F5 A T 1: 164,161,819 I97F possibly damaging Het
Fam208a C T 14: 27,461,179 Q532* probably null Het
Fasn C T 11: 120,810,724 V1939M possibly damaging Het
Gpatch2l T C 12: 86,281,511 V414A probably benign Het
Gpd2 T C 2: 57,338,843 probably benign Het
Gria4 T G 9: 4,432,876 N769T probably damaging Het
Gtf3c2 A T 5: 31,157,620 F885I probably damaging Het
Ifi209 C T 1: 173,641,234 T210I possibly damaging Het
Kmt2c A G 5: 25,315,361 V1917A probably benign Het
Mad1l1 G A 5: 140,307,703 A120V probably benign Het
Mef2c T C 13: 83,662,375 I382T probably damaging Het
Ms4a14 A T 19: 11,307,692 L171I probably benign Het
Myf6 T A 10: 107,494,271 Q145L probably damaging Het
Myh3 G A 11: 67,091,109 probably benign Het
Nbas A G 12: 13,279,416 I121V probably benign Het
Ncoa2 A T 1: 13,177,174 S342T probably damaging Het
Nlrp1b C T 11: 71,161,915 D896N possibly damaging Het
Prss41 A G 17: 23,842,524 Y98H probably benign Het
Ptpn13 A T 5: 103,517,559 T450S probably benign Het
Rab39 G A 9: 53,686,561 R135C probably damaging Het
Radil A G 5: 142,495,342 V570A probably damaging Het
Sbno1 C T 5: 124,388,605 R949Q probably damaging Het
Sec61a2 T A 2: 5,882,878 K98* probably null Het
Serbp1 T A 6: 67,281,823 probably null Het
Serpinb3c G T 1: 107,271,727 Q355K probably benign Het
Slc34a3 T G 2: 25,231,234 D307A probably benign Het
Smarcad1 T A 6: 65,074,953 S357T probably damaging Het
Spag17 G A 3: 100,010,759 D353N possibly damaging Het
Spdl1 T A 11: 34,830,765 Q39L possibly damaging Het
Syne2 A C 12: 76,057,490 Q5485P probably damaging Het
Synj1 C A 16: 90,988,168 V227F probably damaging Het
Syt12 T C 19: 4,456,854 T88A probably benign Het
Tlr12 A G 4: 128,615,877 F860S probably damaging Het
Trdn C A 10: 33,398,414 S461* probably null Het
Trip4 G A 9: 65,857,445 P413S probably benign Het
Wdr17 A G 8: 54,696,267 probably null Het
Wnt9a T C 11: 59,331,029 L251P probably damaging Het
Xrcc1 A T 7: 24,573,294 K618* probably null Het
Zfp759 T C 13: 67,138,664 L93P probably damaging Het
Other mutations in Calml4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Calml4 APN 9 62875492 missense probably benign 0.00
R1389:Calml4 UTSW 9 62871266 missense probably damaging 1.00
R1501:Calml4 UTSW 9 62871340 missense probably benign 0.25
Posted On2016-08-02