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 B630006A20Rik, 1500026J14Rik, 1500031D15Rik, Zcd2, Miner1, 1500009M05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock # IGL02095
Quality Score
Status
Chromosome 3
Chromosomal Location 135406412-135423925 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135411219 bp (GRCm38)
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: 32,661,626 Q794L probably benign Het
Acrbp C A 6: 125,053,956 Y313* probably null Het
Adam9 A G 8: 24,996,729 S178P probably benign Het
Adgrv1 T C 13: 81,579,790 I244V possibly damaging Het
Atad5 A G 11: 80,094,707 S207G probably benign Het
Atp10a A G 7: 58,807,393 D880G probably damaging Het
Cadps2 A G 6: 23,427,310 I573T probably benign Het
Camsap3 A G 8: 3,603,845 D494G probably damaging Het
Cbfa2t3 T C 8: 122,633,493 E438G probably damaging Het
Cndp2 T C 18: 84,681,032 E36G possibly damaging Het
Ddx54 G A 5: 120,623,791 G544D possibly damaging Het
Dok2 G T 14: 70,777,861 G343W possibly damaging Het
Dscaml1 A G 9: 45,447,703 N87D probably damaging Het
Ehf T C 2: 103,266,991 Y237C probably damaging Het
Exoc3 T C 13: 74,180,536 T569A probably damaging Het
Fam151a T C 4: 106,747,875 V478A probably damaging Het
Fam227b T A 2: 126,101,004 H291L probably damaging Het
Fmn2 A G 1: 174,502,601 T186A unknown Het
Ggnbp2 T C 11: 84,833,128 Y660C probably damaging Het
Ggt5 G A 10: 75,608,803 M318I probably benign Het
Gprc5d A G 6: 135,116,177 I244T probably damaging Het
Gucy2e A G 11: 69,232,787 S429P possibly damaging Het
Igf2r T C 17: 12,702,005 D1341G probably damaging Het
Kcnq4 T C 4: 120,700,027 probably benign Het
Krt40 T C 11: 99,541,671 D173G probably damaging Het
Lrrc27 C T 7: 139,230,253 T380I probably benign Het
Lrrc4c A G 2: 97,629,404 N125S probably benign Het
Mtor C T 4: 148,544,541 R2217C probably damaging Het
Nfrkb C T 9: 31,411,231 R866W probably damaging Het
Olfr1424 C A 19: 12,059,549 V68F probably benign Het
Olfr982 T A 9: 40,074,671 Y125* probably null Het
P2ry6 T A 7: 100,938,864 D96V probably damaging Het
Pcdh18 A T 3: 49,756,156 S237T probably benign Het
Pck2 G A 14: 55,542,510 R72Q probably benign Het
Pik3c2a C T 7: 116,346,188 R1461Q probably damaging Het
Polr3a A G 14: 24,454,610 V1130A possibly damaging Het
Ppm1d T A 11: 85,327,006 D198E probably benign Het
Rasa1 T A 13: 85,216,155 E1022D probably benign Het
Rbm25 T C 12: 83,671,974 Y507H probably damaging Het
Rbm26 A T 14: 105,144,260 I488K probably damaging Het
Ryr2 T A 13: 11,759,759 E1170D probably damaging Het
Sdk2 T G 11: 113,834,830 T1198P probably damaging Het
Sema3g C T 14: 31,227,824 T654I probably benign Het
Spag9 A T 11: 94,108,582 H1108L probably damaging Het
Tcrg-C2 T A 13: 19,307,410 probably benign Het
Ubap2 T C 4: 41,229,709 N142S probably benign Het
Usp33 T C 3: 152,381,794 F699L possibly damaging Het
Ythdc2 A G 18: 44,873,140 probably benign Het
Other mutations in Cisd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
kakos UTSW 3 135408855 missense probably damaging 1.00
R4801:Cisd2 UTSW 3 135411141 missense probably damaging 1.00
R4802:Cisd2 UTSW 3 135411141 missense probably damaging 1.00
R5373:Cisd2 UTSW 3 135408835 missense probably benign 0.40
R5374:Cisd2 UTSW 3 135408835 missense probably benign 0.40
R5491:Cisd2 UTSW 3 135408840 missense probably damaging 1.00
R6248:Cisd2 UTSW 3 135408855 missense probably damaging 1.00
R6271:Cisd2 UTSW 3 135408866 missense possibly damaging 0.94
R7201:Cisd2 UTSW 3 135411213 missense probably damaging 1.00
R8516:Cisd2 UTSW 3 135411013 missense probably damaging 1.00
Posted On 2015-04-16