Incidental Mutation 'R0477:Cstl1'
ID 41837
Institutional Source Beutler Lab
Gene Symbol Cstl1
Ensembl Gene ENSMUSG00000055177
Gene Name cystatin-like 1
Synonyms
MMRRC Submission 038677-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R0477 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 148592278-148597353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148592908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 21 (V21A)
Ref Sequence ENSEMBL: ENSMUSP00000105581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109952] [ENSMUST00000109954] [ENSMUST00000109955]
AlphaFold Q80Y72
Predicted Effect probably benign
Transcript: ENSMUST00000109952
AA Change: V21A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105578
Gene: ENSMUSG00000055177
AA Change: V21A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CY 29 138 5.52e-13 SMART
Predicted Effect unknown
Transcript: ENSMUST00000109954
AA Change: V21A
SMART Domains Protein: ENSMUSP00000105580
Gene: ENSMUSG00000055177
AA Change: V21A

DomainStartEndE-ValueType
Pfam:Cystatin 13 74 5.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109955
AA Change: V21A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105581
Gene: ENSMUSG00000055177
AA Change: V21A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CY 29 138 5.52e-13 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 98% (57/58)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A T 11: 117,693,787 (GRCm39) I85F probably benign Het
Abca8a T A 11: 109,956,051 (GRCm39) I778L probably benign Het
Abcc5 T C 16: 20,187,319 (GRCm39) N889S possibly damaging Het
Abcc5 T C 16: 20,217,635 (GRCm39) N359D probably damaging Het
Adam23 A G 1: 63,596,559 (GRCm39) probably benign Het
Adamts3 A T 5: 89,832,366 (GRCm39) D913E probably benign Het
Ap1b1 G T 11: 4,981,787 (GRCm39) C538F probably benign Het
Ash1l T A 3: 88,890,766 (GRCm39) S882T probably benign Het
C9 A T 15: 6,487,664 (GRCm39) E43D probably benign Het
Cacna2d1 T C 5: 16,399,796 (GRCm39) probably null Het
Ces2a A G 8: 105,464,169 (GRCm39) E267G probably damaging Het
Cfap61 A G 2: 145,781,836 (GRCm39) D23G probably damaging Het
Col9a3 T G 2: 180,251,263 (GRCm39) probably benign Het
Cth A T 3: 157,610,812 (GRCm39) L340Q probably damaging Het
Dnah8 T A 17: 30,974,054 (GRCm39) M2813K probably damaging Het
Fam107a A T 14: 8,301,168 (GRCm38) Y21N probably benign Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Fer1l4 A G 2: 155,894,806 (GRCm39) V21A probably benign Het
Foxc2 A T 8: 121,844,774 (GRCm39) Y474F probably damaging Het
Hnf4g G T 3: 3,716,851 (GRCm39) probably benign Het
Hnrnpll T C 17: 80,369,261 (GRCm39) D54G unknown Het
Hydin A G 8: 111,145,130 (GRCm39) Y827C probably damaging Het
Il23r A G 6: 67,429,361 (GRCm39) V327A probably benign Het
Itih4 T A 14: 30,611,631 (GRCm39) V118D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lamb1 A G 12: 31,376,268 (GRCm39) D1546G possibly damaging Het
Large1 A T 8: 73,544,710 (GRCm39) D689E probably damaging Het
Map1a T C 2: 121,132,582 (GRCm39) S895P probably damaging Het
Mdn1 A C 4: 32,750,928 (GRCm39) E4487A probably benign Het
Myo15a T C 11: 60,411,740 (GRCm39) probably null Het
Nlrp4f C A 13: 65,338,720 (GRCm39) R639L probably benign Het
Or4f52 A G 2: 111,062,009 (GRCm39) F43S probably benign Het
Or8h10 T A 2: 86,808,567 (GRCm39) D191V probably damaging Het
Pcdh9 T C 14: 94,125,114 (GRCm39) N229S probably damaging Het
Pcnx2 A G 8: 126,488,306 (GRCm39) V1746A probably damaging Het
Phf12 A T 11: 77,913,896 (GRCm39) H446L possibly damaging Het
Phlpp2 A G 8: 110,622,138 (GRCm39) probably null Het
Psmb9 A C 17: 34,401,238 (GRCm39) V207G probably damaging Het
Ptprh C A 7: 4,600,997 (GRCm39) D127Y possibly damaging Het
Rabep1 T G 11: 70,811,733 (GRCm39) M535R probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scin T C 12: 40,110,515 (GRCm39) D711G probably damaging Het
Slfn4 T C 11: 83,079,507 (GRCm39) I6T probably benign Het
Sos1 T A 17: 80,742,363 (GRCm39) E388V possibly damaging Het
Spag5 A C 11: 78,205,024 (GRCm39) Q603P probably damaging Het
Supv3l1 G T 10: 62,266,364 (GRCm39) T604N probably damaging Het
Tbx5 A G 5: 120,021,184 (GRCm39) S397G possibly damaging Het
Tmprss5 A G 9: 49,026,465 (GRCm39) D383G possibly damaging Het
Trim43b A G 9: 88,972,654 (GRCm39) W167R probably damaging Het
Unc80 A T 1: 66,609,160 (GRCm39) D1283V probably damaging Het
Upf1 A T 8: 70,786,730 (GRCm39) V918D probably benign Het
Vmn2r100 A G 17: 19,742,776 (GRCm39) I383M probably benign Het
Zc3h3 G T 15: 75,648,932 (GRCm39) S733R possibly damaging Het
Zcchc2 C T 1: 105,958,000 (GRCm39) P426S possibly damaging Het
Zkscan7 A G 9: 122,719,874 (GRCm39) probably null Het
Other mutations in Cstl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0139:Cstl1 UTSW 2 148,597,245 (GRCm39) missense probably damaging 1.00
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
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'- AAGCTGTCTCCCAGGAAGCCAATG -3'
(R):5'- GGCTGTGATGACCAAATGAGCTGC -3'

Sequencing Primer
(F):5'- TTCCGAAGCCATGGAGATGA -3'
(R):5'- TTGCACATGAAGCTACCTGAG -3'
Posted On 2013-05-23