Incidental Mutation 'R2471:Cstl1'
ID 253070
Institutional Source Beutler Lab
Gene Symbol Cstl1
Ensembl Gene ENSMUSG00000055177
Gene Name cystatin-like 1
Synonyms
MMRRC Submission 040403-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R2471 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 148592278-148597353 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 148593041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 65 (Y65*)
Ref Sequence ENSEMBL: ENSMUSP00000105581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109952] [ENSMUST00000109954] [ENSMUST00000109955]
AlphaFold Q80Y72
Predicted Effect probably null
Transcript: ENSMUST00000109952
AA Change: Y65*
SMART Domains Protein: ENSMUSP00000105578
Gene: ENSMUSG00000055177
AA Change: Y65*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CY 29 138 5.52e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109954
SMART Domains Protein: ENSMUSP00000105580
Gene: ENSMUSG00000055177

DomainStartEndE-ValueType
Pfam:Cystatin 13 74 5.5e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109955
AA Change: Y65*
SMART Domains Protein: ENSMUSP00000105581
Gene: ENSMUSG00000055177
AA Change: Y65*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CY 29 138 5.52e-13 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
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 at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,888,147 (GRCm39) M390K probably benign Het
Bicra A G 7: 15,706,257 (GRCm39) S1395P probably benign Het
Cacnb2 G A 2: 14,989,125 (GRCm39) D402N probably damaging Het
Csmd1 T A 8: 16,261,776 (GRCm39) D907V probably damaging Het
Dnajc1 T C 2: 18,224,627 (GRCm39) I213V possibly damaging Het
Emcn C T 3: 137,109,772 (GRCm39) T138M probably damaging Het
F3 G T 3: 121,518,689 (GRCm39) W51L probably damaging Het
Far2 A G 6: 148,040,192 (GRCm39) Y41C probably damaging Het
Flrt1 A T 19: 7,073,856 (GRCm39) D230E probably damaging Het
Gimap7 G A 6: 48,700,986 (GRCm39) V191M probably damaging Het
Gm19402 A T 10: 77,526,354 (GRCm39) probably benign Het
Ipo5 A C 14: 121,159,574 (GRCm39) K134T probably benign Het
Kcnf1 T C 12: 17,225,531 (GRCm39) E230G probably damaging Het
Mad1l1 T C 5: 140,247,307 (GRCm39) E340G probably benign Het
Map4k5 T C 12: 69,903,620 (GRCm39) I62V probably benign Het
Marchf7 A G 2: 60,067,244 (GRCm39) K588R possibly damaging Het
Mctp2 T A 7: 71,810,909 (GRCm39) K52* probably null Het
Nr1h4 A T 10: 89,309,756 (GRCm39) F310L probably damaging Het
Ofcc1 G A 13: 40,250,501 (GRCm39) S605F probably damaging Het
Or2w1b A T 13: 21,300,599 (GRCm39) T246S probably damaging Het
Or5ac25 A T 16: 59,181,944 (GRCm39) S212R possibly damaging Het
Or5b97 G A 19: 12,878,679 (GRCm39) T155I probably benign Het
Pcdh20 T G 14: 88,704,672 (GRCm39) E876A probably benign Het
Plce1 C T 19: 38,768,370 (GRCm39) A2215V probably damaging Het
Ptprg T C 14: 12,210,327 (GRCm38) Y128H probably damaging Het
Sigirr A G 7: 140,672,510 (GRCm39) L204S probably damaging Het
Slc2a12 A T 10: 22,540,706 (GRCm39) Y187F probably damaging Het
Slc31a2 A T 4: 62,214,312 (GRCm39) R86W probably null Het
Smc1b T C 15: 84,976,218 (GRCm39) K830E probably damaging Het
Ssrp1 A G 2: 84,872,642 (GRCm39) N427D possibly damaging Het
Taar9 A T 10: 23,985,289 (GRCm39) F48L probably benign Het
Taok2 T C 7: 126,474,272 (GRCm39) E319G probably damaging Het
Try10 T C 6: 41,333,680 (GRCm39) S142P probably damaging Het
Tsc22d1 A G 14: 76,655,644 (GRCm39) T626A probably benign Het
Zfp101 T C 17: 33,599,950 (GRCm39) E602G possibly damaging Het
Other mutations in Cstl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0139:Cstl1 UTSW 2 148,597,245 (GRCm39) missense probably damaging 1.00
R0477:Cstl1 UTSW 2 148,592,908 (GRCm39) missense probably benign 0.06
R1706:Cstl1 UTSW 2 148,593,079 (GRCm39) splice site probably null
R2938:Cstl1 UTSW 2 148,592,977 (GRCm39) missense possibly damaging 0.59
R4005:Cstl1 UTSW 2 148,597,190 (GRCm39) missense probably damaging 0.99
R5071:Cstl1 UTSW 2 148,592,847 (GRCm39) start codon destroyed probably benign 0.01
R7019:Cstl1 UTSW 2 148,597,223 (GRCm39) missense probably benign 0.03
R8126:Cstl1 UTSW 2 148,596,591 (GRCm39) missense probably benign 0.01
R8871:Cstl1 UTSW 2 148,596,554 (GRCm39) missense probably damaging 0.99
R9301:Cstl1 UTSW 2 148,592,926 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AGCTAAGTGCCTTCCGAAGC -3'
(R):5'- ACCAAATGAGCTGCTTAACTCAG -3'

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