Incidental Mutation 'IGL02389:Cstdc5'
ID 291658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cstdc5
Ensembl Gene ENSMUSG00000071561
Gene Name cystatin domain containing 5
Synonyms BC100530
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02389
Quality Score
Status
Chromosome 16
Chromosomal Location 36179744-36187932 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36187848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 6 (V6F)
Ref Sequence ENSEMBL: ENSMUSP00000093794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096089] [ENSMUST00000138796]
AlphaFold Q497J0
Predicted Effect possibly damaging
Transcript: ENSMUST00000096089
AA Change: V6F

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093794
Gene: ENSMUSG00000071561
AA Change: V6F

DomainStartEndE-ValueType
CY 1 97 3.19e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130244
Predicted Effect possibly damaging
Transcript: ENSMUST00000138796
AA Change: V6F

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117436
Gene: ENSMUSG00000071561
AA Change: V6F

DomainStartEndE-ValueType
CY 1 61 1.3e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146691
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fbxw8 C T 5: 118,267,020 (GRCm39) V148M possibly damaging Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or14a257 A G 7: 86,138,336 (GRCm39) L141P probably damaging Het
Or5b94 A T 19: 12,651,899 (GRCm39) D110V probably benign Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pdzd8 A G 19: 59,289,825 (GRCm39) I525T probably benign Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Ptger3 C T 3: 157,272,808 (GRCm39) R52C probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc18a2 G T 19: 59,251,733 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Tnks2 T A 19: 36,861,503 (GRCm39) S951R probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Tyro3 C T 2: 119,635,345 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly damaging Het
Other mutations in Cstdc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02012:Cstdc5 APN 16 36,187,802 (GRCm39) missense possibly damaging 0.95
IGL02026:Cstdc5 APN 16 36,187,848 (GRCm39) missense possibly damaging 0.84
IGL02581:Cstdc5 APN 16 36,179,860 (GRCm39) missense probably damaging 0.97
IGL02754:Cstdc5 APN 16 36,179,899 (GRCm39) missense probably benign 0.01
R1378:Cstdc5 UTSW 16 36,179,929 (GRCm39) missense probably benign 0.01
R1541:Cstdc5 UTSW 16 36,187,863 (GRCm39) start codon destroyed probably damaging 1.00
R2849:Cstdc5 UTSW 16 36,187,814 (GRCm39) missense probably damaging 0.99
R7205:Cstdc5 UTSW 16 36,187,809 (GRCm39) missense probably benign 0.13
R7349:Cstdc5 UTSW 16 36,184,674 (GRCm39) missense probably damaging 1.00
R7592:Cstdc5 UTSW 16 36,187,862 (GRCm39) start codon destroyed probably null 0.86
Posted On 2015-04-16