Incidental Mutation 'R8516:Cisd2'
ID 656129
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 067848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R8516 (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 135116774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 106 (T106A)
Ref Sequence ENSEMBL: ENSMUSP00000029815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029815] [ENSMUST00000120988]
AlphaFold Q9CQB5
Predicted Effect probably damaging
Transcript: ENSMUST00000029815
AA Change: T106A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029815
Gene: ENSMUSG00000028165
AA Change: T106A

DomainStartEndE-ValueType
Pfam:MitoNEET_N 1 66 9.7e-32 PFAM
ZnF_CDGSH 81 120 2.08e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120988
AA Change: T106A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113842
Gene: ENSMUSG00000028165
AA Change: T106A

DomainStartEndE-ValueType
Pfam:MitoNEET_N 1 66 3.9e-33 PFAM
Blast:ZnF_CDGSH 81 106 5e-11 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,373 (GRCm39) S22T probably benign Het
Acte1 T A 7: 143,451,011 (GRCm39) I342N probably damaging Het
Actr8 G T 14: 29,712,856 (GRCm39) A500S probably benign Het
Adamtsl1 A G 4: 86,260,780 (GRCm39) Y1005C probably damaging Het
Ank3 T A 10: 69,763,559 (GRCm39) Y884* probably null Het
Arhgap28 T C 17: 68,180,068 (GRCm39) R306G probably benign Het
Atp8a2 A C 14: 59,928,921 (GRCm39) I1044M probably benign Het
Bahd1 A G 2: 118,747,452 (GRCm39) Y357C probably benign Het
Btd A T 14: 31,388,824 (GRCm39) T182S probably damaging Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cldn15 G T 5: 137,003,550 (GRCm39) C184F probably damaging Het
Clk4 G A 11: 51,166,088 (GRCm39) R198Q probably damaging Het
Coprs G T 8: 13,935,065 (GRCm39) F163L probably damaging Het
Csmd3 G A 15: 47,492,761 (GRCm39) R2216* probably null Het
Defb7 A T 8: 19,547,623 (GRCm39) I43F possibly damaging Het
Dpp8 C A 9: 64,985,291 (GRCm39) T783K probably damaging Het
Eif2s1 G A 12: 78,927,936 (GRCm39) G204D probably damaging Het
Elavl4 T C 4: 110,108,576 (GRCm39) N56S probably damaging Het
Emilin1 G A 5: 31,074,515 (GRCm39) R252H probably damaging Het
Exd1 A T 2: 119,350,554 (GRCm39) L569Q probably damaging Het
Gpn2 C T 4: 133,312,142 (GRCm39) R125C probably damaging Het
Gria2 T C 3: 80,614,294 (GRCm39) E582G probably benign Het
Hadha A T 5: 30,331,582 (GRCm39) V458E probably damaging Het
Hap1 T C 11: 100,246,893 (GRCm39) K4R possibly damaging Het
Hectd4 A T 5: 121,487,073 (GRCm39) H3356L possibly damaging Het
Herc2 G A 7: 55,856,318 (GRCm39) V3919I probably benign Het
Lgr6 G T 1: 135,003,021 (GRCm39) N76K probably damaging Het
Or52w1 A G 7: 105,017,976 (GRCm39) I148V probably benign Het
P4ha3 A G 7: 99,963,869 (GRCm39) M462V probably damaging Het
Pde3b A T 7: 114,126,084 (GRCm39) M773L probably benign Het
Peak1 T C 9: 56,167,284 (GRCm39) S215G probably damaging Het
Pgm5 T A 19: 24,793,074 (GRCm39) M331L probably benign Het
Piwil2 A G 14: 70,658,188 (GRCm39) V213A probably benign Het
Plch2 T C 4: 155,070,764 (GRCm39) H1205R probably benign Het
Pop4 A T 7: 37,966,826 (GRCm39) M85K probably benign Het
Ppp3ca T A 3: 136,583,529 (GRCm39) I212N probably damaging Het
Prom1 T C 5: 44,164,441 (GRCm39) K714R probably benign Het
Psip1 C T 4: 83,384,952 (GRCm39) G207S probably benign Het
Rgs22 A G 15: 36,010,481 (GRCm39) *1259Q probably null Het
Scn1a C T 2: 66,156,478 (GRCm39) G477D possibly damaging Het
Sf3b1 T C 1: 55,051,262 (GRCm39) E222G probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spem2 T C 11: 69,707,721 (GRCm39) R415G possibly damaging Het
Tmem167 T A 13: 90,246,515 (GRCm39) V13E probably damaging Het
Trim2 C T 3: 84,115,627 (GRCm39) A102T probably damaging Het
Trim30b A G 7: 104,006,611 (GRCm39) S82P probably benign Het
Uba6 A C 5: 86,275,607 (GRCm39) S760R possibly damaging Het
Upf2 T C 2: 6,023,782 (GRCm39) F711L unknown Het
Utrn T A 10: 12,362,254 (GRCm39) D2693V probably damaging Het
Vmn1r30 T G 6: 58,412,109 (GRCm39) Y241S probably damaging Het
Vmn2r110 A G 17: 20,794,875 (GRCm39) L598P probably damaging Het
Wfdc18 T A 11: 83,599,984 (GRCm39) F14Y probably benign Het
Wnt10b A T 15: 98,670,761 (GRCm39) C256S probably damaging Het
Xrn1 T A 9: 95,930,444 (GRCm39) Y1554* probably null Het
Zc3h12a T A 4: 125,013,632 (GRCm39) S411C probably damaging Het
Zfp112 G A 7: 23,823,389 (GRCm39) G63E probably benign Het
Zfp786 A T 6: 47,797,477 (GRCm39) L487Q probably damaging Het
Zfp953 T A 13: 67,493,419 (GRCm39) Y75F possibly damaging 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
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
R9677:Cisd2 UTSW 3 135,129,044 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- CAATTTGGGACTATCGGCTCTG -3'
(R):5'- GCATTCTGACATCTGTGCTG -3'

Sequencing Primer
(F):5'- GGGACTATCGGCTCTGAATATTAAAC -3'
(R):5'- AGTTTCAGACTGGCTCCGC -3'
Posted On 2020-10-20