Incidental Mutation 'R4005:Cstl1'
ID 311418
Institutional Source Beutler Lab
Gene Symbol Cstl1
Ensembl Gene ENSMUSG00000055177
Gene Name cystatin-like 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R4005 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 148592278-148597353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 148597190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 64 (I64F)
Ref Sequence ENSEMBL: ENSMUSP00000105580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109952] [ENSMUST00000109954] [ENSMUST00000109955]
AlphaFold Q80Y72
Predicted Effect possibly damaging
Transcript: ENSMUST00000109952
AA Change: I116F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105578
Gene: ENSMUSG00000055177
AA Change: I116F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CY 29 138 5.52e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109954
AA Change: I64F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105580
Gene: ENSMUSG00000055177
AA Change: I64F

DomainStartEndE-ValueType
Pfam:Cystatin 13 74 5.5e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109955
AA Change: I116F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105581
Gene: ENSMUSG00000055177
AA Change: I116F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CY 29 138 5.52e-13 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T A 3: 89,657,094 (GRCm39) L488Q probably damaging Het
Ajm1 T C 2: 25,468,868 (GRCm39) T348A probably benign Het
Arhgef26 T C 3: 62,247,816 (GRCm39) M300T probably benign Het
Asl C T 5: 130,047,673 (GRCm39) probably null Het
Capn10 T A 1: 92,868,313 (GRCm39) L260Q probably damaging Het
Cdhr3 T C 12: 33,130,355 (GRCm39) D160G probably damaging Het
Cep290 A G 10: 100,374,870 (GRCm39) E1372G probably damaging Het
Cpeb2 A G 5: 43,395,755 (GRCm39) probably benign Het
Cpeb4 G A 11: 31,875,390 (GRCm39) A530T probably damaging Het
Ddx28 C G 8: 106,737,560 (GRCm39) R166P possibly damaging Het
Dgkd T C 1: 87,863,145 (GRCm39) I64T possibly damaging Het
Dmxl2 T C 9: 54,353,674 (GRCm39) I765V probably benign Het
Edem3 T C 1: 151,635,506 (GRCm39) M60T probably damaging Het
Farp1 C T 14: 121,513,809 (GRCm39) R844W probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Hmcn1 C G 1: 150,598,204 (GRCm39) L1699F possibly damaging Het
Igsf10 A T 3: 59,235,981 (GRCm39) L1400H probably benign Het
Ikzf3 C T 11: 98,379,843 (GRCm39) E142K probably damaging Het
Ilkap T A 1: 91,312,985 (GRCm39) N170I probably benign Het
Kctd3 T G 1: 188,734,124 (GRCm39) I39L possibly damaging Het
Lrit3 C A 3: 129,585,021 (GRCm39) V246L probably benign Het
Magi1 A G 6: 93,678,299 (GRCm39) I619T probably damaging Het
Map1b G T 13: 99,566,415 (GRCm39) P2102H unknown Het
Mcm10 G T 2: 5,005,814 (GRCm39) S440R probably damaging Het
Mtss2 CG CGG 8: 111,465,673 (GRCm39) probably null Het
Nlrp9a A G 7: 26,257,975 (GRCm39) N531S probably benign Het
Nrcam T A 12: 44,579,429 (GRCm39) D31E probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ogn A C 13: 49,762,775 (GRCm39) E39A possibly damaging Het
Or4g17 G A 2: 111,210,088 (GRCm39) V248I probably benign Het
Or52z14 A G 7: 103,253,470 (GRCm39) Y203C probably damaging Het
Or5b94 A T 19: 12,652,210 (GRCm39) I214L probably benign Het
Pramel20 A G 4: 143,298,839 (GRCm39) T261A probably benign Het
Rgs2 T A 1: 143,877,606 (GRCm39) I150L probably benign Het
Rnf19a A T 15: 36,245,774 (GRCm39) D490E probably damaging Het
Spag5 T C 11: 78,212,355 (GRCm39) M1101T probably benign Het
Ulk4 A T 9: 120,997,265 (GRCm39) L769Q possibly damaging Het
Ythdc2 A G 18: 44,966,195 (GRCm39) S144G probably benign 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
R2471:Cstl1 UTSW 2 148,593,041 (GRCm39) nonsense probably null
R2938:Cstl1 UTSW 2 148,592,977 (GRCm39) missense possibly damaging 0.59
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'- TCTTCCTATGCCAGGGTGTAGG -3'
(R):5'- ACCACGGGTCCTCTTACAATTTTAC -3'

Sequencing Primer
(F):5'- AGGAAGAAACTCTGTACTCCTTCCTG -3'
(R):5'- TCTTACAATTTTACACACCACAGG -3'
Posted On 2015-04-29