Incidental Mutation 'R2089:Calhm3'
ID 231681
Institutional Source Beutler Lab
Gene Symbol Calhm3
Ensembl Gene ENSMUSG00000094219
Gene Name calcium homeostasis modulator 3
Synonyms
MMRRC Submission 040094-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R2089 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 47140138-47146203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47140430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 221 (D221V)
Ref Sequence ENSEMBL: ENSMUSP00000136302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178630]
AlphaFold J3QMI4
Predicted Effect probably damaging
Transcript: ENSMUST00000178630
AA Change: D221V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136302
Gene: ENSMUSG00000094219
AA Change: D221V

DomainStartEndE-ValueType
Pfam:Ca_hom_mod 1 252 1.9e-103 PFAM
low complexity region 268 278 N/A INTRINSIC
Meta Mutation Damage Score 0.1419 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (51/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik G C 2: 19,522,357 (GRCm39) N247K probably damaging Het
4930402F06Rik T C 2: 35,266,079 (GRCm39) K197R probably benign Het
Adgrl1 T C 8: 84,661,093 (GRCm39) I862T probably damaging Het
Agbl1 G A 7: 76,239,248 (GRCm39) V583M probably damaging Het
Apba2 T A 7: 64,345,341 (GRCm39) V177D probably benign Het
Atg14 A T 14: 47,780,352 (GRCm39) I474N probably damaging Het
Bicdl1 A G 5: 115,862,638 (GRCm39) S206P probably damaging Het
Bltp1 C T 3: 37,042,405 (GRCm39) T2797I probably damaging Het
Ccdc93 T A 1: 121,411,071 (GRCm39) probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dido1 A T 2: 180,303,677 (GRCm39) V1409E probably benign Het
Dsc2 G A 18: 20,166,351 (GRCm39) T760I possibly damaging Het
Etnk2 T G 1: 133,304,791 (GRCm39) probably null Het
Gbp7 A T 3: 142,240,383 (GRCm39) I34F probably damaging Het
Gbp7 A T 3: 142,251,316 (GRCm39) probably benign Het
Gpr37 A G 6: 25,689,062 (GRCm39) S12P possibly damaging Het
Grxcr1 T C 5: 68,267,755 (GRCm39) I168T probably damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Igkv8-30 A C 6: 70,094,070 (GRCm39) C114G probably damaging Het
Lrrc4 T G 6: 28,830,586 (GRCm39) D343A probably benign Het
Mars1 A G 10: 127,135,154 (GRCm39) S646P probably damaging Het
Micu3 G A 8: 40,761,413 (GRCm39) G108R probably benign Het
Mterf1b A T 5: 4,247,057 (GRCm39) T233S possibly damaging Het
Myrf A T 19: 10,201,964 (GRCm39) V171D possibly damaging Het
Nbas G A 12: 13,411,046 (GRCm39) D897N probably benign Het
Nfx1 T C 4: 40,977,004 (GRCm39) V226A probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Ntrk2 A G 13: 59,007,115 (GRCm39) H239R possibly damaging Het
Or10g9 T C 9: 39,912,500 (GRCm39) T8A probably benign Het
Pcdhb18 T C 18: 37,623,653 (GRCm39) S328P probably damaging Het
Pigm T C 1: 172,205,100 (GRCm39) Y279H probably damaging Het
Pik3cd A G 4: 149,737,156 (GRCm39) L880P probably damaging Het
Plaat3 A G 19: 7,556,474 (GRCm39) I92V probably damaging Het
Ptger4 T A 15: 5,272,326 (GRCm39) I98F possibly damaging Het
Rasl11a T A 5: 146,783,927 (GRCm39) I124N probably damaging Het
Rest A G 5: 77,429,126 (GRCm39) K515R possibly damaging Het
Ryr1 A G 7: 28,785,474 (GRCm39) L1746P probably damaging Het
Ryr2 G T 13: 11,960,863 (GRCm39) T25K probably benign Het
Serpina3g A T 12: 104,205,417 (GRCm39) D52V probably damaging Het
Skint6 T C 4: 112,703,881 (GRCm39) N998S probably benign Het
Sntg1 T A 1: 8,665,763 (GRCm39) T184S probably benign Het
Ssbp1 A G 6: 40,453,433 (GRCm39) Y73C probably null Het
Suclg1 A G 6: 73,241,259 (GRCm39) K193R probably benign Het
Tnrc18 A C 5: 142,759,396 (GRCm39) S813R unknown Het
Tnrc6a T C 7: 122,771,343 (GRCm39) probably null Het
Trap1 A C 16: 3,863,903 (GRCm39) Y472* probably null Het
Trpm8 T C 1: 88,271,048 (GRCm39) I446T probably damaging Het
Tti2 T C 8: 31,644,294 (GRCm39) L297P probably damaging Het
Umodl1 A G 17: 31,190,893 (GRCm39) M247V probably benign Het
Unc80 T A 1: 66,710,874 (GRCm39) probably benign Het
Zfp174 A G 16: 3,672,506 (GRCm39) R352G possibly damaging Het
Other mutations in Calhm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:Calhm3 UTSW 19 47,140,335 (GRCm39) frame shift probably null
R1203:Calhm3 UTSW 19 47,143,839 (GRCm39) missense probably damaging 1.00
R1863:Calhm3 UTSW 19 47,140,539 (GRCm39) missense probably damaging 1.00
R1911:Calhm3 UTSW 19 47,143,908 (GRCm39) missense possibly damaging 0.74
R1951:Calhm3 UTSW 19 47,140,256 (GRCm39) missense probably benign 0.00
R2091:Calhm3 UTSW 19 47,140,430 (GRCm39) missense probably damaging 1.00
R2091:Calhm3 UTSW 19 47,140,430 (GRCm39) missense probably damaging 1.00
R2273:Calhm3 UTSW 19 47,145,986 (GRCm39) missense probably damaging 0.96
R2274:Calhm3 UTSW 19 47,145,986 (GRCm39) missense probably damaging 0.96
R2436:Calhm3 UTSW 19 47,140,404 (GRCm39) missense probably damaging 1.00
R3702:Calhm3 UTSW 19 47,140,187 (GRCm39) missense possibly damaging 0.88
R5758:Calhm3 UTSW 19 47,140,190 (GRCm39) missense probably damaging 0.99
R5901:Calhm3 UTSW 19 47,146,052 (GRCm39) missense probably damaging 1.00
R5938:Calhm3 UTSW 19 47,140,516 (GRCm39) missense probably damaging 1.00
R6948:Calhm3 UTSW 19 47,140,344 (GRCm39) missense probably damaging 0.99
R9190:Calhm3 UTSW 19 47,146,121 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGTACTGAGGAGTTGATCCAC -3'
(R):5'- GTGTGCAATACCAGAGCGCTAC -3'

Sequencing Primer
(F):5'- GAGTTGATCCACCTGCTCCCG -3'
(R):5'- TACCACATCTCACTAAAGCCTTCTCG -3'
Posted On 2014-09-18