Incidental Mutation 'IGL02712:Cisd1'
ID 304608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cisd1
Ensembl Gene ENSMUSG00000037710
Gene Name CDGSH iron sulfur domain 1
Synonyms D10Ertd214e, Zcd1, mitoNEET
Accession Numbers
Essential gene? Not available question?
Stock # IGL02712
Quality Score
Status
Chromosome 10
Chromosomal Location 71166324-71180679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71172181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 34 (F34L)
Ref Sequence ENSEMBL: ENSMUSP00000043559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045887]
AlphaFold Q91WS0
Predicted Effect probably benign
Transcript: ENSMUST00000045887
AA Change: F34L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000043559
Gene: ENSMUSG00000037710
AA Change: F34L

DomainStartEndE-ValueType
Pfam:MitoNEET_N 6 41 1e-12 PFAM
ZnF_CDGSH 55 93 6.98e-20 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced oxidative capacity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angel1 A G 12: 86,769,613 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,667,802 (GRCm39) V289D probably damaging Het
Cabp5 A G 7: 13,137,271 (GRCm39) M93V probably damaging Het
Ces1a A C 8: 93,762,668 (GRCm39) V201G probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Ddx39a A G 8: 84,448,386 (GRCm39) I213V probably benign Het
Ddx59 A T 1: 136,367,519 (GRCm39) N542I probably benign Het
Dytn T C 1: 63,703,581 (GRCm39) T233A probably benign Het
Fbxo7 A G 10: 85,860,302 (GRCm39) T49A possibly damaging Het
Fmnl2 C A 2: 52,926,510 (GRCm39) probably benign Het
Golga2 G T 2: 32,194,225 (GRCm39) K610N probably damaging Het
Hipk4 T C 7: 27,228,060 (GRCm39) Y269H probably damaging Het
Ifi209 T C 1: 173,470,267 (GRCm39) V285A possibly damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map3k13 T G 16: 21,724,005 (GRCm39) V329G probably damaging Het
Mrm3 T C 11: 76,134,683 (GRCm39) W29R possibly damaging Het
Nherf1 T C 11: 115,068,060 (GRCm39) V200A possibly damaging Het
Nos1ap T C 1: 170,156,820 (GRCm39) I213V possibly damaging Het
Nphp4 C T 4: 152,640,732 (GRCm39) T1033M probably damaging Het
Nr5a2 T C 1: 136,868,266 (GRCm39) probably null Het
Nrcam A G 12: 44,620,610 (GRCm39) Y885C probably damaging Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or1e17 T C 11: 73,831,756 (GRCm39) V228A probably benign Het
Or8b57 T C 9: 40,004,082 (GRCm39) H60R probably damaging Het
Ovgp1 T A 3: 105,893,829 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,113 (GRCm39) S1341G probably benign Het
Pld2 T G 11: 70,447,905 (GRCm39) L856R probably benign Het
Plod1 A G 4: 148,003,344 (GRCm39) F494L possibly damaging Het
Pnkd T A 1: 74,389,027 (GRCm39) S233T possibly damaging Het
Rnf144b T C 13: 47,393,255 (GRCm39) I198T probably damaging Het
Rsc1a1 G T 4: 141,412,376 (GRCm39) Q179K probably benign Het
Slc5a10 C T 11: 61,598,632 (GRCm39) W249* probably null Het
Spata32 T G 11: 103,098,973 (GRCm39) probably benign Het
Stk4 T A 2: 163,938,817 (GRCm39) H228Q probably damaging Het
Szt2 T A 4: 118,242,030 (GRCm39) Q1592L probably benign Het
Tnc T A 4: 63,893,493 (GRCm39) I1598F probably damaging Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Ttll6 T G 11: 96,030,601 (GRCm39) probably benign Het
Vmn2r118 A G 17: 55,899,655 (GRCm39) S750P probably benign Het
Zswim5 C T 4: 116,842,892 (GRCm39) T879I probably damaging Het
Other mutations in Cisd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1691:Cisd1 UTSW 10 71,180,559 (GRCm39) missense probably benign 0.00
R5881:Cisd1 UTSW 10 71,172,244 (GRCm39) missense probably damaging 1.00
R7367:Cisd1 UTSW 10 71,172,190 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16