Incidental Mutation 'R8126:Cstl1'
ID 631748
Institutional Source Beutler Lab
Gene Symbol Cstl1
Ensembl Gene ENSMUSG00000055177
Gene Name cystatin-like 1
Synonyms
MMRRC Submission 067555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R8126 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 148592278-148597353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148596591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 98 (E98G)
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: E98G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000105578
Gene: ENSMUSG00000055177
AA Change: E98G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CY 29 138 5.52e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109954
AA Change: E46G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000105580
Gene: ENSMUSG00000055177
AA Change: E46G

DomainStartEndE-ValueType
Pfam:Cystatin 13 74 5.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109955
AA Change: E98G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000105581
Gene: ENSMUSG00000055177
AA Change: E98G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CY 29 138 5.52e-13 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.3%
Validation Efficiency 95% (42/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Aplp1 T A 7: 30,141,164 (GRCm39) D299V probably damaging Het
Atad2 T C 15: 57,968,987 (GRCm39) I841M probably benign Het
Bdp1 T C 13: 100,192,790 (GRCm39) E1348G probably damaging Het
Cacna1a A G 8: 85,359,881 (GRCm39) T1948A probably benign Het
Cdh12 T C 15: 21,558,393 (GRCm39) Y431H probably benign Het
Cfap74 C A 4: 155,511,831 (GRCm39) D446E Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Col4a4 T C 1: 82,431,007 (GRCm39) T1632A unknown Het
Csnk2a2 G A 8: 96,182,575 (GRCm39) P296L Het
Cspg4b T A 13: 113,504,697 (GRCm39) I1942N Het
Ddx49 A T 8: 70,748,246 (GRCm39) I303N probably damaging Het
Ddx60 C T 8: 62,436,945 (GRCm39) A965V probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gm14295 A G 2: 176,502,658 (GRCm39) D716G probably benign Het
Gsap T A 5: 21,475,010 (GRCm39) H556Q probably benign Het
Hsp90b1 T C 10: 86,530,246 (GRCm39) I538V probably damaging Het
Ighv1-49 C T 12: 115,019,230 (GRCm39) probably benign Het
Lrrk1 T C 7: 65,942,063 (GRCm39) N725S probably damaging Het
Mfsd4b2 A G 10: 39,797,984 (GRCm39) S124P probably benign Het
Ncoa1 A T 12: 4,340,951 (GRCm39) L827Q probably damaging Het
Ncor2 T C 5: 125,183,268 (GRCm39) N59D unknown Het
Nfkbid T A 7: 30,123,799 (GRCm39) S120T probably benign Het
Nktr T C 9: 121,575,514 (GRCm39) Y341H probably damaging Het
Npat T C 9: 53,463,634 (GRCm39) V139A probably benign Het
Or5ae1 T A 7: 84,565,114 (GRCm39) N42K probably damaging Het
Plxnb2 T C 15: 89,047,506 (GRCm39) D721G probably benign Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppp3ca T A 3: 136,608,952 (GRCm39) D348E probably damaging Het
Pramel21 T A 4: 143,343,635 (GRCm39) C312S possibly damaging Het
Rnf146 T C 10: 29,223,372 (GRCm39) I171M probably damaging Het
Snrpa G T 7: 26,892,373 (GRCm39) F62L possibly damaging Het
Spata3 C T 1: 85,952,075 (GRCm39) R110C unknown Het
Tbc1d2b T C 9: 90,104,369 (GRCm39) H591R probably benign Het
Tnfsf8 T G 4: 63,752,423 (GRCm39) D214A possibly damaging Het
Trdmt1 C T 2: 13,524,816 (GRCm39) R213H probably benign Het
Uspl1 C T 5: 149,151,430 (GRCm39) L877F probably damaging Het
Vmn1r22 C A 6: 57,877,669 (GRCm39) V103F possibly damaging Het
Vmn2r102 T C 17: 19,880,712 (GRCm39) S18P probably benign Het
Vmn2r-ps117 A T 17: 19,042,814 (GRCm39) Y74F probably benign Het
Wdr90 A G 17: 26,067,951 (GRCm39) F1429S possibly damaging Het
Zdhhc20 C A 14: 58,084,402 (GRCm39) V238F probably 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
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
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'- ATGACCAGAGATCTCAGTTGCC -3'
(R):5'- CAGATGCACCAAGAAGTGTG -3'

Sequencing Primer
(F):5'- TTGCCAGAATCACTCAATGGG -3'
(R):5'- CACCAAGAAGTGTGAGCTTGCC -3'
Posted On 2020-06-30