Incidental Mutation 'R9105:Calhm5'
ID 691969
Institutional Source Beutler Lab
Gene Symbol Calhm5
Ensembl Gene ENSMUSG00000049872
Gene Name calcium homeostasis modulator family member 5
Synonyms Fam26e
MMRRC Submission 068917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R9105 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 33967348-33972515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33968144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 303 (V303A)
Ref Sequence ENSEMBL: ENSMUSP00000064462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069125] [ENSMUST00000095758]
AlphaFold Q8R100
Predicted Effect probably benign
Transcript: ENSMUST00000069125
AA Change: V303A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064462
Gene: ENSMUSG00000049872
AA Change: V303A

DomainStartEndE-ValueType
Pfam:Ca_hom_mod 1 251 2.7e-90 PFAM
low complexity region 290 299 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095758
SMART Domains Protein: ENSMUSP00000093432
Gene: ENSMUSG00000071340

DomainStartEndE-ValueType
Pfam:TRAPP 19 167 2.5e-36 PFAM
low complexity region 169 181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220095
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.0%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,439,407 (GRCm39) K139* probably null Het
Acsl5 A T 19: 55,269,002 (GRCm39) K221I probably benign Het
Actrt2 G A 4: 154,751,677 (GRCm39) T153I probably damaging Het
Adam34 C T 8: 44,103,785 (GRCm39) C620Y probably damaging Het
Adgrl2 T C 3: 148,543,289 (GRCm39) K812E possibly damaging Het
Aig1 T C 10: 13,529,339 (GRCm39) T224A probably benign Het
Apbb2 G T 5: 66,460,015 (GRCm39) S694* probably null Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Bcl3 T A 7: 19,543,175 (GRCm39) I352F probably damaging Het
Btbd19 C T 4: 116,977,961 (GRCm39) R276Q probably damaging Het
Btnl9 G A 11: 49,066,461 (GRCm39) P368S probably benign Het
Ccdc97 T C 7: 25,412,537 (GRCm39) T302A probably benign Het
Cdh11 T C 8: 103,360,968 (GRCm39) D790G probably damaging Het
Cep350 T C 1: 155,835,561 (GRCm39) N45S probably damaging Het
Col5a2 T A 1: 45,419,366 (GRCm39) Y1238F probably benign Het
Ctdspl2 C T 2: 121,837,351 (GRCm39) L373F probably damaging Het
Dolpp1 A T 2: 30,289,152 (GRCm39) probably null Het
Efr3b A T 12: 4,031,782 (GRCm39) L340Q probably damaging Het
Ehd4 T C 2: 119,932,760 (GRCm39) N222S probably damaging Het
Fgf8 A C 19: 45,730,490 (GRCm39) probably benign Het
Frmd4a A G 2: 4,539,994 (GRCm39) I205V probably damaging Het
G6pc3 C T 11: 102,084,403 (GRCm39) A271V probably benign Het
Gab1 T C 8: 81,515,589 (GRCm39) D243G probably damaging Het
Gbp9 A G 5: 105,241,942 (GRCm39) I205T probably benign Het
Gtf2b T A 3: 142,489,050 (GRCm39) F304Y probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Ip6k3 A G 17: 27,364,169 (GRCm39) L293P probably damaging Het
Itgb7 A G 15: 102,135,904 (GRCm39) S44P probably damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lancl1 T A 1: 67,043,962 (GRCm39) Y346F possibly damaging Het
Lca5l T G 16: 95,960,671 (GRCm39) E602A probably damaging Het
Lcor G A 19: 41,573,311 (GRCm39) A689T possibly damaging Het
Lrp1b A G 2: 41,396,803 (GRCm39) V421A Het
Lrrtm3 A G 10: 63,924,336 (GRCm39) V277A possibly damaging Het
Lypla1 T C 1: 4,911,282 (GRCm39) L189P probably damaging Het
Msantd3 A T 4: 48,560,963 (GRCm39) N180Y possibly damaging Het
Muc17 T C 5: 137,171,238 (GRCm39) Y131C Het
Myo19 T C 11: 84,794,029 (GRCm39) I651T probably damaging Het
Ndst2 T C 14: 20,780,070 (GRCm39) S57G probably benign Het
Or12d16-ps1 C T 17: 37,705,731 (GRCm39) T100I probably benign Het
Or1j14 A G 2: 36,418,294 (GRCm39) Y290C probably damaging Het
Or4c117 C T 2: 88,955,995 (GRCm39) V27I probably benign Het
Or6p1 T A 1: 174,258,861 (GRCm39) I289N probably damaging Het
Pik3c2a T C 7: 115,972,049 (GRCm39) T794A probably benign Het
Pla2g6 T A 15: 79,183,397 (GRCm39) probably null Het
Pnrc1 C A 4: 33,246,207 (GRCm39) G251* probably null Het
Pramel14 A T 4: 143,718,595 (GRCm39) probably benign Het
Psg17 A T 7: 18,555,333 (GRCm39) V3E probably benign Het
Psmb9 A T 17: 34,401,905 (GRCm39) probably benign Het
Slc12a5 A G 2: 164,838,114 (GRCm39) T982A probably benign Het
Srrd T C 5: 112,485,465 (GRCm39) D286G possibly damaging Het
Tcp10b T C 17: 13,285,236 (GRCm39) S153P probably benign Het
Tmem131 C A 1: 36,854,591 (GRCm39) S886I probably benign Het
Ttk T A 9: 83,745,544 (GRCm39) D630E probably damaging Het
Vnn3 T C 10: 23,740,461 (GRCm39) W255R probably damaging Het
Vps13c T G 9: 67,778,081 (GRCm39) probably benign Het
Wdfy3 T C 5: 102,030,512 (GRCm39) Q2332R probably benign Het
Xkr8 A T 4: 132,459,648 (GRCm39) Y43* probably null Het
Other mutations in Calhm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01695:Calhm5 APN 10 33,968,198 (GRCm39) missense possibly damaging 0.83
IGL01966:Calhm5 APN 10 33,972,129 (GRCm39) missense probably benign 0.00
IGL02090:Calhm5 APN 10 33,972,261 (GRCm39) missense probably damaging 1.00
R0781:Calhm5 UTSW 10 33,972,013 (GRCm39) missense probably benign 0.00
R1110:Calhm5 UTSW 10 33,972,013 (GRCm39) missense probably benign 0.00
R5214:Calhm5 UTSW 10 33,968,487 (GRCm39) missense probably damaging 0.99
R5705:Calhm5 UTSW 10 33,971,989 (GRCm39) missense probably damaging 1.00
R5934:Calhm5 UTSW 10 33,968,198 (GRCm39) missense possibly damaging 0.83
R6489:Calhm5 UTSW 10 33,968,502 (GRCm39) missense probably damaging 1.00
R6863:Calhm5 UTSW 10 33,968,451 (GRCm39) missense probably benign 0.01
R6873:Calhm5 UTSW 10 33,968,448 (GRCm39) missense probably damaging 1.00
R6995:Calhm5 UTSW 10 33,972,189 (GRCm39) missense probably benign
R7169:Calhm5 UTSW 10 33,968,160 (GRCm39) missense probably damaging 1.00
R8263:Calhm5 UTSW 10 33,972,192 (GRCm39) missense probably damaging 0.98
R8327:Calhm5 UTSW 10 33,972,064 (GRCm39) missense probably damaging 1.00
R8915:Calhm5 UTSW 10 33,968,415 (GRCm39) missense probably benign 0.20
R9438:Calhm5 UTSW 10 33,972,049 (GRCm39) missense probably benign 0.00
Z1177:Calhm5 UTSW 10 33,972,325 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGAGGCTTCAGAACAGTTTCC -3'
(R):5'- AACAAACTCCTGGAATGTGCTAAC -3'

Sequencing Primer
(F):5'- TCCCACTGTGTTATCTTCCAAAG -3'
(R):5'- CTCCTGGAATGTGCTAACAAGTTAAG -3'
Posted On 2021-12-30