Incidental Mutation 'R1389:Calml4'
ID 162539
Institutional Source Beutler Lab
Gene Symbol Calml4
Ensembl Gene ENSMUSG00000032246
Gene Name calmodulin-like 4
Synonyms
MMRRC Submission 039451-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1389 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 62765362-62783203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62778548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 12 (D12V)
Ref Sequence ENSEMBL: ENSMUSP00000132298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034777] [ENSMUST00000163820] [ENSMUST00000213643] [ENSMUST00000214633] [ENSMUST00000215870] [ENSMUST00000215968]
AlphaFold Q91WQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000034777
AA Change: D59V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034777
Gene: ENSMUSG00000032246
AA Change: D59V

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 noncoding transcript
Transcript: ENSMUST00000156423
Predicted Effect probably damaging
Transcript: ENSMUST00000163820
AA Change: D12V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132298
Gene: ENSMUSG00000032246
AA Change: D12V

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
Predicted Effect probably damaging
Transcript: ENSMUST00000214633
AA Change: D12V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215870
AA Change: D59V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215968
AA Change: D23V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,476,460 (GRCm39) T914A possibly damaging Het
Acsl3 A C 1: 78,665,999 (GRCm39) I142L probably benign Het
Adgra2 C T 8: 27,601,116 (GRCm39) P252L probably damaging Het
Akap6 A G 12: 53,186,303 (GRCm39) E1239G probably benign Het
Arhgef17 TGGAGGAGGAGGAGGAGG TGGAGGAGGAGGAGG 7: 100,580,244 (GRCm39) probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccar2 C A 14: 70,377,558 (GRCm39) V699L possibly damaging Het
Ccdc27 T C 4: 154,126,226 (GRCm39) M88V unknown Het
Ceacam15 T C 7: 16,405,988 (GRCm39) R188G probably damaging Het
Dcaf8 G A 1: 172,001,619 (GRCm39) R272H probably benign Het
Dchs1 A G 7: 105,404,778 (GRCm39) V2588A probably benign Het
Dst G A 1: 34,250,313 (GRCm39) R1749H probably damaging Het
Exog A G 9: 119,291,572 (GRCm39) Q283R probably benign Het
Fmnl1 A T 11: 103,077,535 (GRCm39) probably null Het
Gramd1c T C 16: 43,811,085 (GRCm39) D213G probably damaging Het
Iqgap1 A G 7: 80,409,504 (GRCm39) probably null Het
Itgae A G 11: 73,016,188 (GRCm39) Y799C probably damaging Het
Kalrn T C 16: 33,809,173 (GRCm39) I903V probably benign Het
Kcnh1 A G 1: 192,188,071 (GRCm39) E844G probably benign Het
Khdc1a A T 1: 21,420,251 (GRCm39) D3V probably damaging Het
Ly6g T C 15: 75,028,615 (GRCm39) F25S probably benign Het
Mapk1ip1 G A 7: 138,438,456 (GRCm39) probably benign Het
Mfsd3 A G 15: 76,586,889 (GRCm39) H243R probably benign Het
Mms22l T A 4: 24,591,076 (GRCm39) Y1016N probably damaging Het
Mrgprb5 A T 7: 47,818,078 (GRCm39) V219E probably damaging Het
Nars2 G A 7: 96,652,036 (GRCm39) S209N probably benign Het
Nckap5 T C 1: 125,954,447 (GRCm39) T702A probably damaging Het
Or1e26 T C 11: 73,480,369 (GRCm39) N65S possibly damaging Het
Paf1 A G 7: 28,098,257 (GRCm39) probably benign Het
Prl3d1 A T 13: 27,282,693 (GRCm39) R145* probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rnf13 T A 3: 57,686,917 (GRCm39) N103K probably damaging Het
Senp1 T C 15: 97,973,734 (GRCm39) S170G probably benign Het
Slc46a2 A G 4: 59,914,620 (GRCm39) L101P probably damaging Het
Tmem123 C T 9: 7,791,107 (GRCm39) T136M probably damaging Het
Tpo T A 12: 30,153,109 (GRCm39) H415L probably damaging Het
Vipr2 A G 12: 116,100,950 (GRCm39) I255V probably benign Het
Zc3h11a A T 1: 133,561,541 (GRCm39) V310E probably damaging Het
Zfp3 T A 11: 70,663,462 (GRCm39) C474S probably damaging Het
Zfp707 T A 15: 75,846,465 (GRCm39) C99S probably damaging Het
Zranb1 C T 7: 132,573,062 (GRCm39) P410S probably damaging Het
Zswim8 G T 14: 20,760,816 (GRCm39) R30L probably damaging Het
Other mutations in Calml4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Calml4 APN 9 62,782,774 (GRCm39) missense probably benign 0.00
IGL03131:Calml4 APN 9 62,782,765 (GRCm39) missense probably benign 0.30
R1501:Calml4 UTSW 9 62,778,622 (GRCm39) missense probably benign 0.25
R9590:Calml4 UTSW 9 62,782,810 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- GGGCTCTCCACTATGACAAAGTTGAG -3'
(R):5'- GTGAGTGAGCTTCTCTCCCAGTTTC -3'

Sequencing Primer
(F):5'- ccctttctctctttctcttccc -3'
(R):5'- TCATGAGTTTCGACCGCAG -3'
Posted On 2014-03-17