Incidental Mutation 'IGL02095:Cisd2'
ID 279600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cisd2
Ensembl Gene ENSMUSG00000028165
Gene Name CDGSH iron sulfur domain 2
Synonyms Miner1, Zcd2, B630006A20Rik, 1500031D15Rik, 1500009M05Rik, 1500026J14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02095
Quality Score
Status
Chromosome 3
Chromosomal Location 135112173-135129194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135116980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 37 (D37G)
Ref Sequence ENSEMBL: ENSMUSP00000113842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029815] [ENSMUST00000120988]
AlphaFold Q9CQB5
Predicted Effect probably benign
Transcript: ENSMUST00000029815
AA Change: D37G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029815
Gene: ENSMUSG00000028165
AA Change: D37G

DomainStartEndE-ValueType
Pfam:MitoNEET_N 1 66 9.7e-32 PFAM
ZnF_CDGSH 81 120 2.08e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120988
AA Change: D37G

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113842
Gene: ENSMUSG00000028165
AA Change: D37G

DomainStartEndE-ValueType
Pfam:MitoNEET_N 1 66 3.9e-33 PFAM
Blast:ZnF_CDGSH 81 106 5e-11 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit numerous symptoms of premature aging associated with reduced mitochondrial degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,583 (GRCm39) Q794L probably benign Het
Acrbp C A 6: 125,030,919 (GRCm39) Y313* probably null Het
Adam9 A G 8: 25,486,745 (GRCm39) S178P probably benign Het
Adgrv1 T C 13: 81,727,909 (GRCm39) I244V possibly damaging Het
Atad5 A G 11: 79,985,533 (GRCm39) S207G probably benign Het
Atp10a A G 7: 58,457,141 (GRCm39) D880G probably damaging Het
Cadps2 A G 6: 23,427,309 (GRCm39) I573T probably benign Het
Camsap3 A G 8: 3,653,845 (GRCm39) D494G probably damaging Het
Cbfa2t3 T C 8: 123,360,232 (GRCm39) E438G probably damaging Het
Cndp2 T C 18: 84,699,157 (GRCm39) E36G possibly damaging Het
Ddx54 G A 5: 120,761,856 (GRCm39) G544D possibly damaging Het
Dok2 G T 14: 71,015,301 (GRCm39) G343W possibly damaging Het
Dscaml1 A G 9: 45,359,001 (GRCm39) N87D probably damaging Het
Ehf T C 2: 103,097,336 (GRCm39) Y237C probably damaging Het
Exoc3 T C 13: 74,328,655 (GRCm39) T569A probably damaging Het
Fam151a T C 4: 106,605,072 (GRCm39) V478A probably damaging Het
Fam227b T A 2: 125,942,924 (GRCm39) H291L probably damaging Het
Fmn2 A G 1: 174,330,167 (GRCm39) T186A unknown Het
Ggnbp2 T C 11: 84,723,954 (GRCm39) Y660C probably damaging Het
Ggt5 G A 10: 75,444,637 (GRCm39) M318I probably benign Het
Gprc5d A G 6: 135,093,175 (GRCm39) I244T probably damaging Het
Gucy2e A G 11: 69,123,613 (GRCm39) S429P possibly damaging Het
Igf2r T C 17: 12,920,892 (GRCm39) D1341G probably damaging Het
Kcnq4 T C 4: 120,557,224 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,497 (GRCm39) D173G probably damaging Het
Lrrc27 C T 7: 138,810,169 (GRCm39) T380I probably benign Het
Lrrc4c A G 2: 97,459,749 (GRCm39) N125S probably benign Het
Mtor C T 4: 148,628,998 (GRCm39) R2217C probably damaging Het
Nfrkb C T 9: 31,322,527 (GRCm39) R866W probably damaging Het
Or10s1 T A 9: 39,985,967 (GRCm39) Y125* probably null Het
Or4d10b C A 19: 12,036,913 (GRCm39) V68F probably benign Het
P2ry6 T A 7: 100,588,071 (GRCm39) D96V probably damaging Het
Pcdh18 A T 3: 49,710,605 (GRCm39) S237T probably benign Het
Pck2 G A 14: 55,779,967 (GRCm39) R72Q probably benign Het
Pik3c2a C T 7: 115,945,423 (GRCm39) R1461Q probably damaging Het
Polr3a A G 14: 24,504,678 (GRCm39) V1130A possibly damaging Het
Ppm1d T A 11: 85,217,832 (GRCm39) D198E probably benign Het
Rasa1 T A 13: 85,364,274 (GRCm39) E1022D probably benign Het
Rbm25 T C 12: 83,718,748 (GRCm39) Y507H probably damaging Het
Rbm26 A T 14: 105,381,696 (GRCm39) I488K probably damaging Het
Ryr2 T A 13: 11,774,645 (GRCm39) E1170D probably damaging Het
Sdk2 T G 11: 113,725,656 (GRCm39) T1198P probably damaging Het
Sema3g C T 14: 30,949,781 (GRCm39) T654I probably benign Het
Spag9 A T 11: 93,999,408 (GRCm39) H1108L probably damaging Het
Trgc2 T A 13: 19,491,580 (GRCm39) probably benign Het
Ubap2 T C 4: 41,229,709 (GRCm39) N142S probably benign Het
Usp33 T C 3: 152,087,431 (GRCm39) F699L possibly damaging Het
Ythdc2 A G 18: 45,006,207 (GRCm39) probably benign Het
Other mutations in Cisd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
kakos UTSW 3 135,114,616 (GRCm39) missense probably damaging 1.00
R4801:Cisd2 UTSW 3 135,116,902 (GRCm39) missense probably damaging 1.00
R4802:Cisd2 UTSW 3 135,116,902 (GRCm39) missense probably damaging 1.00
R5373:Cisd2 UTSW 3 135,114,596 (GRCm39) missense probably benign 0.40
R5374:Cisd2 UTSW 3 135,114,596 (GRCm39) missense probably benign 0.40
R5491:Cisd2 UTSW 3 135,114,601 (GRCm39) missense probably damaging 1.00
R6248:Cisd2 UTSW 3 135,114,616 (GRCm39) missense probably damaging 1.00
R6271:Cisd2 UTSW 3 135,114,627 (GRCm39) missense possibly damaging 0.94
R7201:Cisd2 UTSW 3 135,116,974 (GRCm39) missense probably damaging 1.00
R8516:Cisd2 UTSW 3 135,116,774 (GRCm39) missense probably damaging 1.00
R9677:Cisd2 UTSW 3 135,129,044 (GRCm39) missense possibly damaging 0.69
Posted On 2015-04-16