Incidental Mutation 'R2849:Cstdc5'
ID 252025
Institutional Source Beutler Lab
Gene Symbol Cstdc5
Ensembl Gene ENSMUSG00000071561
Gene Name cystatin domain containing 5
Synonyms BC100530
MMRRC Submission 040442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2849 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 36179744-36187932 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36187814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 17 (Q17L)
Ref Sequence ENSEMBL: ENSMUSP00000117436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096089] [ENSMUST00000138796]
AlphaFold Q497J0
Predicted Effect possibly damaging
Transcript: ENSMUST00000096089
AA Change: Q17L

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093794
Gene: ENSMUSG00000071561
AA Change: Q17L

DomainStartEndE-ValueType
CY 1 97 3.19e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130244
Predicted Effect probably damaging
Transcript: ENSMUST00000138796
AA Change: Q17L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117436
Gene: ENSMUSG00000071561
AA Change: Q17L

DomainStartEndE-ValueType
CY 1 61 1.3e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146691
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Abca8a T C 11: 109,932,931 (GRCm39) D1231G probably damaging Het
Adcy7 A G 8: 89,054,021 (GRCm39) I1017V probably benign Het
Agpat2 A G 2: 26,487,251 (GRCm39) I109T probably damaging Het
Aldh9a1 G A 1: 167,180,197 (GRCm39) R97H probably damaging Het
Als2 G A 1: 59,245,697 (GRCm39) T593M probably damaging Het
Ap3d1 G C 10: 80,577,742 (GRCm39) H28Q possibly damaging Het
Atxn1 A T 13: 45,720,175 (GRCm39) D573E probably damaging Het
Begain T A 12: 108,999,044 (GRCm39) M576L probably benign Het
Bod1l T C 5: 41,995,419 (GRCm39) N109S probably damaging Het
Boll A G 1: 55,385,532 (GRCm39) M131T possibly damaging Het
Celf2 T C 2: 6,608,936 (GRCm39) R282G probably damaging Het
Cers2 T C 3: 95,229,770 (GRCm39) F330L probably benign Het
Chst13 T C 6: 90,286,140 (GRCm39) D274G probably benign Het
Cimap1a A G 7: 140,429,182 (GRCm39) T156A probably benign Het
Dclk2 A G 3: 86,700,530 (GRCm39) V649A probably damaging Het
Deaf1 T C 7: 140,894,367 (GRCm39) *54W probably null Het
Fbf1 C T 11: 116,048,514 (GRCm39) probably null Het
Fbxo32 C T 15: 58,071,368 (GRCm39) S71N probably benign Het
Fbxo42 T A 4: 140,927,821 (GRCm39) N700K probably damaging Het
Fis1 T C 5: 136,991,971 (GRCm39) I55T possibly damaging Het
Fyco1 A T 9: 123,663,891 (GRCm39) L121* probably null Het
Gm2381 G A 7: 42,469,831 (GRCm39) P98S probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Gtf2ird1 G A 5: 134,387,861 (GRCm39) T946I probably damaging Het
Hmcn1 G T 1: 150,439,350 (GRCm39) Y5494* probably null Het
Josd2 A G 7: 44,118,397 (GRCm39) probably null Het
Lfng T A 5: 140,597,622 (GRCm39) D149E probably damaging Het
Lrp1 C T 10: 127,378,165 (GRCm39) A4052T probably damaging Het
Lrrtm3 T C 10: 63,924,810 (GRCm39) N119S probably damaging Het
Lypd6 C T 2: 50,055,664 (GRCm39) P38L probably damaging Het
Msl3l2 T C 10: 55,991,538 (GRCm39) C88R probably benign Het
Nsd1 A G 13: 55,361,505 (GRCm39) T158A probably damaging Het
Nudt22 A T 19: 6,970,852 (GRCm39) S239R probably benign Het
Or4g7 T C 2: 111,309,699 (GRCm39) M190T probably benign Het
Or52r1c A T 7: 102,735,319 (GRCm39) D193V probably damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Otop3 T C 11: 115,235,384 (GRCm39) F339L probably damaging Het
Pcdhga10 T A 18: 37,881,253 (GRCm39) V338E possibly damaging Het
Pcnx2 A G 8: 126,487,666 (GRCm39) F1779S probably damaging Het
Plxna4 T C 6: 32,162,467 (GRCm39) K1349E probably damaging Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Ppp4r4 T C 12: 103,573,192 (GRCm39) V697A probably benign Het
Ptpra C A 2: 130,386,919 (GRCm39) H603Q probably benign Het
Rnf10 T C 5: 115,387,171 (GRCm39) D439G probably benign Het
Rnf43 T A 11: 87,623,093 (GRCm39) N731K probably benign Het
Slc2a4 T A 11: 69,836,997 (GRCm39) N116Y probably damaging Het
Slc6a15 C A 10: 103,240,552 (GRCm39) H392N probably benign Het
Slco6d1 C T 1: 98,394,441 (GRCm39) T375I probably benign Het
Smpd4 A G 16: 17,460,076 (GRCm39) D436G probably damaging Het
Spata22 G A 11: 73,244,571 (GRCm39) W311* probably null Het
Syt3 G A 7: 44,042,866 (GRCm39) V383I probably benign Het
Tle6 T A 10: 81,430,235 (GRCm39) I306F probably damaging Het
Tox3 G A 8: 90,975,018 (GRCm39) Q538* probably null Het
Trim24 T A 6: 37,933,388 (GRCm39) S656T probably damaging Het
Trnau1ap C A 4: 132,049,045 (GRCm39) V119F possibly damaging Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn1r82 T C 7: 12,039,333 (GRCm39) V202A probably damaging Het
Zfp607b G A 7: 27,401,819 (GRCm39) V92I probably benign Het
Zfp964 G C 8: 70,116,504 (GRCm39) C368S unknown Het
Zw10 A G 9: 48,968,941 (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
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
Predicted Primers PCR Primer
(F):5'- TTCACCTTCAGCTACTGGGG -3'
(R):5'- CCCATTCCCTCAGATATTTCGGAG -3'

Sequencing Primer
(F):5'- ACCTTCAGCTACTGGGGAAACTG -3'
(R):5'- CCCTCAGATATTTCGGAGATAAGAC -3'
Posted On 2014-12-04