Incidental Mutation 'IGL03168:Calhm4'
ID 411730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calhm4
Ensembl Gene ENSMUSG00000039508
Gene Name calcium homeostasis modulator family member 4
Synonyms LOC270711, 4732454E20Rik, Fam26d
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL03168
Quality Score
Status
Chromosome 10
Chromosomal Location 33914780-33920306 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33917552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 300 (V300I)
Ref Sequence ENSEMBL: ENSMUSP00000042466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048052] [ENSMUST00000095758] [ENSMUST00000218239]
AlphaFold Q8CE93
Predicted Effect probably benign
Transcript: ENSMUST00000048052
AA Change: V300I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042466
Gene: ENSMUSG00000039508
AA Change: V300I

DomainStartEndE-ValueType
Pfam:Ca_hom_mod 6 258 4.8e-80 PFAM
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: ENSMUST00000218239
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,486,280 (GRCm39) V29A probably benign Het
Ankk1 C A 9: 49,327,068 (GRCm39) A704S possibly damaging Het
Aph1c G A 9: 66,740,619 (GRCm39) probably benign Het
Arglu1 T A 8: 8,733,960 (GRCm39) I119L probably benign Het
Brwd1 A T 16: 95,818,877 (GRCm39) S1318R possibly damaging Het
Chd3 A G 11: 69,239,741 (GRCm39) probably benign Het
Colq T C 14: 31,246,377 (GRCm39) Y445C probably damaging Het
Cyp2a4 A T 7: 26,012,975 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,118,274 (GRCm39) M106I probably benign Het
Erfe T G 1: 91,299,164 (GRCm39) N302K probably damaging Het
Fggy A T 4: 95,815,046 (GRCm39) probably benign Het
Gata3 A G 2: 9,873,625 (GRCm39) Y290H probably damaging Het
Grik4 T C 9: 42,582,539 (GRCm39) T136A probably damaging Het
Hc G T 2: 34,914,210 (GRCm39) N832K probably benign Het
Jhy A T 9: 40,828,848 (GRCm39) S353T possibly damaging Het
Krt40 T A 11: 99,433,854 (GRCm39) Q44L possibly damaging Het
Ksr2 T C 5: 117,886,846 (GRCm39) F794S probably damaging Het
Or2l13 A T 16: 19,305,969 (GRCm39) H127L probably benign Het
Or2n1e A C 17: 38,585,682 (GRCm39) S7R probably damaging Het
Or4p7 A G 2: 88,221,938 (GRCm39) M116V probably damaging Het
Or5ac16 A G 16: 59,022,610 (GRCm39) Y60H probably damaging Het
Or5t9 A G 2: 86,659,607 (GRCm39) I170M possibly damaging Het
Or8b1c A G 9: 38,384,315 (GRCm39) T91A probably benign Het
Pcdhb17 A G 18: 37,618,825 (GRCm39) E205G probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Prkd2 A G 7: 16,584,188 (GRCm39) D347G possibly damaging Het
Prkdc A G 16: 15,652,030 (GRCm39) I3806V probably benign Het
Qpct C A 17: 79,359,753 (GRCm39) A20E unknown Het
Rap1a A G 3: 105,657,587 (GRCm39) S11P probably damaging Het
Rnf145 C A 11: 44,445,985 (GRCm39) T273K probably damaging Het
Speg T C 1: 75,364,831 (GRCm39) I298T probably damaging Het
Syt6 G A 3: 103,494,943 (GRCm39) V303M probably damaging Het
Tpr A G 1: 150,284,508 (GRCm39) I324M probably benign Het
Uggt2 A G 14: 119,315,080 (GRCm39) F330L probably damaging Het
Unc45a A T 7: 79,982,881 (GRCm39) L348Q probably damaging Het
Vmn1r17 T A 6: 57,337,583 (GRCm39) I212F probably benign Het
Vmn2r68 A C 7: 84,870,972 (GRCm39) N770K probably damaging Het
Zfhx3 T C 8: 109,673,132 (GRCm39) V1394A probably damaging Het
Other mutations in Calhm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0309:Calhm4 UTSW 10 33,920,043 (GRCm39) missense probably damaging 1.00
R1541:Calhm4 UTSW 10 33,917,659 (GRCm39) missense probably benign 0.02
R6513:Calhm4 UTSW 10 33,917,630 (GRCm39) nonsense probably null
R6828:Calhm4 UTSW 10 33,919,953 (GRCm39) missense possibly damaging 0.47
R7633:Calhm4 UTSW 10 33,919,904 (GRCm39) missense possibly damaging 0.96
R7710:Calhm4 UTSW 10 33,920,045 (GRCm39) missense possibly damaging 0.56
R8811:Calhm4 UTSW 10 33,917,661 (GRCm39) missense probably benign 0.08
R8874:Calhm4 UTSW 10 33,920,264 (GRCm39) start codon destroyed probably null 0.98
Posted On 2016-08-02