Incidental Mutation 'R3702:Calhm3'
ID258587
Institutional Source Beutler Lab
Gene Symbol Calhm3
Ensembl Gene ENSMUSG00000094219
Gene Namecalcium homeostasis modulator 3
Synonyms
MMRRC Submission 040695-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #R3702 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location47151609-47157764 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 47151748 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 302 (D302V)
Ref Sequence ENSEMBL: ENSMUSP00000136302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178630]
Predicted Effect possibly damaging
Transcript: ENSMUST00000178630
AA Change: D302V

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136302
Gene: ENSMUSG00000094219
AA Change: D302V

DomainStartEndE-ValueType
Pfam:Ca_hom_mod 1 252 1.9e-103 PFAM
low complexity region 268 278 N/A INTRINSIC
Meta Mutation Damage Score 0.1266 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,330 N55I probably benign Het
9530053A07Rik G A 7: 28,157,778 V2184M probably damaging Het
Abca5 C T 11: 110,288,058 probably null Het
Cacna1a T G 8: 84,617,846 S1846A probably damaging Het
Cacna1i A T 15: 80,381,071 probably benign Het
Cluh A G 11: 74,665,356 M878V probably benign Het
Col24a1 C T 3: 145,337,860 H603Y probably benign Het
Commd1 T A 11: 22,974,057 L277H probably damaging Het
Cpped1 G T 16: 11,828,440 D135E probably damaging Het
Cul5 T C 9: 53,629,216 K499E probably damaging Het
Elfn1 A G 5: 139,972,359 T373A probably benign Het
Fam83h C T 15: 76,002,650 R946K probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 119,160,716 probably null Het
Grik4 T C 9: 42,675,218 K114E probably damaging Het
Hivep1 T C 13: 42,157,727 S1148P probably benign Het
Itgb1bp2 T C X: 101,451,687 probably benign Het
Lrp1 C A 10: 127,595,103 R359L probably damaging Het
Lyn A G 4: 3,742,455 H28R probably benign Het
Mtmr10 T C 7: 64,337,899 L729P probably damaging Het
Myot T A 18: 44,354,095 probably null Het
Obox2 G T 7: 15,396,957 R38L probably benign Het
Olfr787 A T 10: 129,462,952 Y92F probably damaging Het
Pcdha3 A G 18: 36,947,348 Q381R probably benign Het
Pip4k2b A G 11: 97,729,548 probably benign Het
Ppig T A 2: 69,733,209 S89T probably damaging Het
Prune2 A G 19: 17,178,871 D47G probably damaging Het
Sh2b2 A G 5: 136,224,233 S362P probably damaging Het
Snap91 G A 9: 86,806,520 T322I probably damaging Het
Taf3 G A 2: 9,952,561 T112I possibly damaging Het
Tcea1 T C 1: 4,894,935 V276A probably benign Het
Tex15 T C 8: 33,574,166 V1208A probably benign Het
Tomm40 G T 7: 19,713,673 T144K possibly damaging Het
Zbed5 G A 5: 129,903,159 D650N possibly damaging Het
Zfp326 A G 5: 105,888,843 probably null Het
Zfp647 G A 15: 76,910,910 R517W probably damaging Het
Other mutations in Calhm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:Calhm3 UTSW 19 47151896 frame shift probably null
R1203:Calhm3 UTSW 19 47155400 missense probably damaging 1.00
R1863:Calhm3 UTSW 19 47152100 missense probably damaging 1.00
R1911:Calhm3 UTSW 19 47155469 missense possibly damaging 0.74
R1951:Calhm3 UTSW 19 47151817 missense probably benign 0.00
R2089:Calhm3 UTSW 19 47151991 missense probably damaging 1.00
R2091:Calhm3 UTSW 19 47151991 missense probably damaging 1.00
R2273:Calhm3 UTSW 19 47157547 missense probably damaging 0.96
R2274:Calhm3 UTSW 19 47157547 missense probably damaging 0.96
R2436:Calhm3 UTSW 19 47151965 missense probably damaging 1.00
R5758:Calhm3 UTSW 19 47151751 missense probably damaging 0.99
R5901:Calhm3 UTSW 19 47157613 missense probably damaging 1.00
R5938:Calhm3 UTSW 19 47152077 missense probably damaging 1.00
R6948:Calhm3 UTSW 19 47151905 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTTGACACGGAAAACTGCTGC -3'
(R):5'- TGATGAGACGTGCTGTGAGC -3'

Sequencing Primer
(F):5'- CACGGAAAACTGCTGCTGTTG -3'
(R):5'- GACTTCGCACACCGTTGC -3'
Posted On2015-01-23