Incidental Mutation 'R6271:Cisd2'
ID 507317
Institutional Source Beutler Lab
Gene Symbol Cisd2
Ensembl Gene ENSMUSG00000028165
Gene Name CDGSH iron sulfur domain 2
Synonyms Miner1, Zcd2, B630006A20Rik, 1500031D15Rik, 1500009M05Rik, 1500026J14Rik
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 135112173-135129194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135114627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 115 (N115D)
Ref Sequence ENSEMBL: ENSMUSP00000029815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029815] [ENSMUST00000120988]
AlphaFold Q9CQB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000029815
AA Change: N115D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029815
Gene: ENSMUSG00000028165
AA Change: N115D

DomainStartEndE-ValueType
Pfam:MitoNEET_N 1 66 9.7e-32 PFAM
ZnF_CDGSH 81 120 2.08e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120988
SMART Domains Protein: ENSMUSP00000113842
Gene: ENSMUSG00000028165

DomainStartEndE-ValueType
Pfam:MitoNEET_N 1 66 3.9e-33 PFAM
Blast:ZnF_CDGSH 81 106 5e-11 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign Het
Other mutations in Cisd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02095:Cisd2 APN 3 135,116,980 (GRCm39) missense possibly damaging 0.65
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
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
Predicted Primers PCR Primer
(F):5'- TCAGAATGAGACTTGACCATCTG -3'
(R):5'- CAATGTTGAGCTCCACAGAAATC -3'

Sequencing Primer
(F):5'- GAATGAGACTTGACCATCTGATTTC -3'
(R):5'- TCACTGAGAAGGATTGCTCTGTAGAC -3'
Posted On 2018-03-15