Incidental Mutation 'R7592:Cstdc5'
ID 587478
Institutional Source Beutler Lab
Gene Symbol Cstdc5
Ensembl Gene ENSMUSG00000071561
Gene Name cystatin domain containing 5
Synonyms BC100530
MMRRC Submission 045639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7592 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 36179744-36187932 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 36187862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000093794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096089] [ENSMUST00000138796]
AlphaFold Q497J0
Predicted Effect probably null
Transcript: ENSMUST00000096089
AA Change: M1K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093794
Gene: ENSMUSG00000071561
AA Change: M1K

DomainStartEndE-ValueType
CY 1 97 3.19e-18 SMART
Predicted Effect probably null
Transcript: ENSMUST00000138796
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117436
Gene: ENSMUSG00000071561
AA Change: M1K

DomainStartEndE-ValueType
CY 1 61 1.3e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,667,138 (GRCm39) T204A unknown Het
Abca12 T C 1: 71,327,836 (GRCm39) T1415A probably benign Het
Adamtsl3 A G 7: 81,986,459 (GRCm39) T24A probably benign Het
Ankrd13b A C 11: 77,367,327 (GRCm39) V194G probably benign Het
Aurkc C T 7: 7,003,006 (GRCm39) T167I probably benign Het
Capn1 T C 19: 6,064,469 (GRCm39) Y10C probably benign Het
Ccnk T C 12: 108,152,724 (GRCm39) S14P possibly damaging Het
Cebpe T A 14: 54,949,298 (GRCm39) I40F probably damaging Het
Cers3 G A 7: 66,439,377 (GRCm39) C296Y probably damaging Het
Cog8 A T 8: 107,776,861 (GRCm39) C505S possibly damaging Het
Col4a3 A G 1: 82,626,338 (GRCm39) I92V unknown Het
Col5a3 T A 9: 20,708,689 (GRCm39) H645L unknown Het
Crispld1 A T 1: 17,798,990 (GRCm39) E37V possibly damaging Het
Csmd2 A G 4: 128,357,591 (GRCm39) Y1684C Het
Dcst1 C A 3: 89,260,599 (GRCm39) S555I probably benign Het
Drc1 A G 5: 30,499,060 (GRCm39) S70G possibly damaging Het
Elavl2 A T 4: 91,199,808 (GRCm39) probably null Het
Emc1 A G 4: 139,087,877 (GRCm39) H300R probably benign Het
Gcnt4 G A 13: 97,083,669 (GRCm39) V322I probably benign Het
Gsg1l2 A G 11: 67,665,584 (GRCm39) N51D probably benign Het
Gucy2e A T 11: 69,114,150 (GRCm39) probably null Het
Hip1r A G 5: 124,136,036 (GRCm39) E579G probably benign Het
Hoxa4 T C 6: 52,168,520 (GRCm39) H50R unknown Het
Htr7 T C 19: 36,034,292 (GRCm39) Y121C probably damaging Het
Ift43 G A 12: 86,207,964 (GRCm39) D111N probably damaging Het
Itih3 A G 14: 30,630,722 (GRCm39) V863A probably damaging Het
Macf1 T C 4: 123,304,686 (GRCm39) probably benign Het
Mgat3 A G 15: 80,095,193 (GRCm39) K7E probably damaging Het
Ndst4 T A 3: 125,364,436 (GRCm39) V371E probably damaging Het
Npr1 T G 3: 90,372,323 (GRCm39) D163A possibly damaging Het
Nudt12 T C 17: 59,313,589 (GRCm39) I330V probably benign Het
Or2a20 T G 6: 43,194,179 (GRCm39) C111G probably damaging Het
Or4k2 T A 14: 50,424,020 (GRCm39) Y219F probably damaging Het
Or51l4 C A 7: 103,404,279 (GRCm39) C171F probably damaging Het
Or7g32 C A 9: 19,389,128 (GRCm39) M139I possibly damaging Het
Poc1a A T 9: 106,226,967 (GRCm39) R402S probably benign Het
Prex2 G T 1: 11,193,437 (GRCm39) V470L probably damaging Het
Prom1 T C 5: 44,220,469 (GRCm39) E93G probably damaging Het
Psma1 A T 7: 113,868,961 (GRCm39) M180K probably benign Het
Pudp A T 18: 50,701,053 (GRCm39) F227I probably damaging Het
Rab15 T A 12: 76,851,223 (GRCm39) Q60L probably damaging Het
Scaf8 T C 17: 3,221,497 (GRCm39) probably null Het
Septin9 T A 11: 117,181,488 (GRCm39) I96N probably damaging Het
Sez6 T C 11: 77,868,876 (GRCm39) S976P probably damaging Het
Slc2a12 A G 10: 22,540,802 (GRCm39) Y219C probably damaging Het
Slc38a9 T A 13: 112,831,889 (GRCm39) I213K probably damaging Het
Stil T A 4: 114,881,005 (GRCm39) D516E probably benign Het
Supt20 A G 3: 54,614,543 (GRCm39) D184G probably damaging Het
Tars3 G A 7: 65,308,619 (GRCm39) S263N probably benign Het
Tmem181a C A 17: 6,339,295 (GRCm39) T68K probably benign Het
Trav21-dv12 G T 14: 54,113,997 (GRCm39) C39F probably damaging Het
Tshz1 T C 18: 84,032,173 (GRCm39) E745G probably damaging Het
Ugt1a8 T A 1: 88,015,904 (GRCm39) F106I probably benign Het
Vmn1r39 C A 6: 66,781,428 (GRCm39) V297L probably benign Het
Vmn2r101 G A 17: 19,811,443 (GRCm39) probably null Het
Vmn2r69 GAAAA GAAAAA 7: 85,060,768 (GRCm39) probably null 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
IGL02389: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
Predicted Primers PCR Primer
(F):5'- CAGCTACTGGGGAAACTGAG -3'
(R):5'- ATGCAGTAAGACTTGCCTAAGG -3'

Sequencing Primer
(F):5'- TACTGGGGAAACTGAGGCTCC -3'
(R):5'- GCCTAAGGCCACACTCATTTC -3'
Posted On 2019-10-24