Incidental Mutation 'R7042:Cst8'
ID 557112
Institutional Source Beutler Lab
Gene Symbol Cst8
Ensembl Gene ENSMUSG00000027442
Gene Name cystatin 8 (cystatin-related epididymal spermatogenic)
Synonyms Cres, Cst-rs1
MMRRC Submission 045141-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R7042 (G1)
Quality Score 207.009
Status Validated
Chromosome 2
Chromosomal Location 148640759-148647516 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 148641796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028931] [ENSMUST00000109947]
AlphaFold P32766
Predicted Effect probably null
Transcript: ENSMUST00000028931
SMART Domains Protein: ENSMUSP00000028931
Gene: ENSMUSG00000027442

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CY 32 140 6.18e-25 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109947
SMART Domains Protein: ENSMUSP00000105573
Gene: ENSMUSG00000027442

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CY 32 140 6.18e-25 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,192,098 (GRCm39) S554G possibly damaging Het
Adcy7 G T 8: 89,042,378 (GRCm39) R415L probably damaging Het
Aox1 A T 1: 58,141,759 (GRCm39) I1182F probably damaging Het
Ccdc7b T A 8: 129,811,730 (GRCm39) Y147N probably benign Het
Clcnka A G 4: 141,118,691 (GRCm39) I398T probably damaging Het
Dcxr T C 11: 120,617,841 (GRCm39) D45G possibly damaging Het
Dhx38 A T 8: 110,283,617 (GRCm39) M510K possibly damaging Het
Dync2i1 T C 12: 116,218,061 (GRCm39) I182M probably benign Het
Ebf1 T A 11: 44,882,338 (GRCm39) H431Q probably damaging Het
Eml4 T C 17: 83,768,999 (GRCm39) I681T probably damaging Het
Etf1 T C 18: 35,043,219 (GRCm39) N164S probably benign Het
Fmo2 A G 1: 162,708,226 (GRCm39) V303A probably damaging Het
Foxl2 T A 9: 98,837,715 (GRCm39) M1K probably null Het
Gm3404 A T 5: 146,462,969 (GRCm39) E50D probably benign Het
Gpr61 G A 3: 108,058,647 (GRCm39) P5S possibly damaging Het
Hcrtr1 A G 4: 130,024,653 (GRCm39) probably benign Het
Ier3ip1 T A 18: 77,017,828 (GRCm39) F3I possibly damaging Het
Ifi206 G A 1: 173,308,808 (GRCm39) P396L Het
Ifi209 G A 1: 173,470,236 (GRCm39) V275I probably benign Het
Ighv1-69 T C 12: 115,586,909 (GRCm39) S75G probably benign Het
Kcnj3 A T 2: 55,484,877 (GRCm39) H325L possibly damaging Het
Klrk1 A T 6: 129,593,734 (GRCm39) S50T possibly damaging Het
Mfsd4b4 T A 10: 39,768,514 (GRCm39) Y193F probably damaging Het
Nlrp5 A G 7: 23,116,905 (GRCm39) I210V possibly damaging Het
Or4p20 T A 2: 88,253,746 (GRCm39) I208F possibly damaging Het
Or5w12 A T 2: 87,501,935 (GRCm39) Y259N possibly damaging Het
Or8b3 G T 9: 38,314,196 (GRCm39) G6C probably damaging Het
Or8d23 A G 9: 38,841,622 (GRCm39) S52G possibly damaging Het
Pax6 A T 2: 105,526,718 (GRCm39) H208L probably benign Het
Pgc C A 17: 48,044,745 (GRCm39) Q331K probably benign Het
Phldb1 A G 9: 44,605,721 (GRCm39) S370P probably damaging Het
Pi4k2a T C 19: 42,093,337 (GRCm39) I226T probably benign Het
Pick1 T C 15: 79,132,965 (GRCm39) S342P probably damaging Het
Plscr1 A G 9: 92,153,588 (GRCm39) M312V probably damaging Het
Ppp3cc T G 14: 70,462,468 (GRCm39) K399Q probably benign Het
Qpctl T C 7: 18,880,943 (GRCm39) H163R probably benign Het
Rab11fip5 A G 6: 85,351,110 (GRCm39) V134A possibly damaging Het
Rasal1 T A 5: 120,802,025 (GRCm39) probably null Het
Rem2 T A 14: 54,715,548 (GRCm39) I171N probably damaging Het
Sec22a T A 16: 35,149,885 (GRCm39) I214L probably benign Het
Setbp1 T C 18: 79,130,070 (GRCm39) D54G probably damaging Het
Slc27a2 C T 2: 126,409,700 (GRCm39) A294V probably damaging Het
Slfn14 T A 11: 83,167,430 (GRCm39) D695V probably damaging Het
Smc6 T A 12: 11,359,301 (GRCm39) I975K probably damaging Het
Spice1 T C 16: 44,206,043 (GRCm39) F835L probably benign Het
Tars2 A T 3: 95,658,057 (GRCm39) H222Q probably benign Het
Tmtc2 A T 10: 105,206,477 (GRCm39) F273I probably damaging Het
Ttc39d C A 17: 80,523,891 (GRCm39) D183E probably benign Het
Vasp A G 7: 18,995,946 (GRCm39) S128P probably benign Het
Vcpip1 A G 1: 9,818,378 (GRCm39) S2P unknown Het
Vmn2r98 T C 17: 19,301,184 (GRCm39) Y729H probably benign Het
Wdr18 A T 10: 79,801,944 (GRCm39) D243V probably benign Het
Xirp2 T C 2: 67,343,633 (GRCm39) V1958A probably benign Het
Zfp451 A T 1: 33,816,474 (GRCm39) M492K probably damaging Het
Zfp804b A G 5: 6,820,042 (GRCm39) I1007T probably benign Het
Other mutations in Cst8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4012:Cst8 UTSW 2 148,646,622 (GRCm39) splice site probably benign
R4155:Cst8 UTSW 2 148,641,996 (GRCm39) missense possibly damaging 0.73
R5375:Cst8 UTSW 2 148,646,503 (GRCm39) missense probably benign 0.03
R6257:Cst8 UTSW 2 148,647,365 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGACGATGTAGGGCATGTATG -3'
(R):5'- GGATCCAAAGTAGTTCTGTGCC -3'

Sequencing Primer
(F):5'- CGATGTAGGGCATGTATGTGTGTG -3'
(R):5'- GATCCAAAGTAGTTCTGTGCCTTCAC -3'
Posted On 2019-06-21