Incidental Mutation 'R3895:Csta1'
ID 310516
Institutional Source Beutler Lab
Gene Symbol Csta1
Ensembl Gene ENSMUSG00000034362
Gene Name cystatin A1
Synonyms Csta
MMRRC Submission 040806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R3895 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 35940316-35951559 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35951402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 7 (T7A)
Ref Sequence ENSEMBL: ENSMUSP00000125577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096090] [ENSMUST00000161638]
AlphaFold P56567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000077110
SMART Domains Protein: ENSMUSP00000076360
Gene: ENSMUSG00000060956

DomainStartEndE-ValueType
Pfam:Cystatin 1 55 1.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096090
AA Change: T7A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000093795
Gene: ENSMUSG00000034362
AA Change: T7A

DomainStartEndE-ValueType
CY 1 97 2.84e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161638
AA Change: T7A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125577
Gene: ENSMUSG00000034362
AA Change: T7A

DomainStartEndE-ValueType
Blast:CY 1 63 2e-34 BLAST
PDB:3KSE|F 1 63 2e-14 PDB
SCOP:d1stfi_ 1 63 1e-31 SMART
Meta Mutation Damage Score 0.2419 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (45/47)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,814,445 (GRCm39) probably benign Het
C6 T C 15: 4,837,952 (GRCm39) V854A probably benign Het
Ccnd1 T C 7: 144,491,631 (GRCm39) E136G probably damaging Het
CK137956 A T 4: 127,840,441 (GRCm39) F422I probably benign Het
Dock8 A G 19: 25,028,865 (GRCm39) E23G probably benign Het
Fbxo8 A T 8: 57,044,556 (GRCm39) R286S probably damaging Het
Gm12258 T G 11: 58,749,375 (GRCm39) Y183* probably null Het
Gvin-ps6 T A 7: 106,022,621 (GRCm39) H127L probably damaging Het
Hectd3 A G 4: 116,853,286 (GRCm39) D171G probably damaging Het
Hoxd11 C T 2: 74,513,136 (GRCm39) R134W probably damaging Het
Ighg2c T C 12: 113,251,278 (GRCm39) T246A unknown Het
Ints6 T C 14: 62,934,060 (GRCm39) I816V probably damaging Het
Lrp4 G A 2: 91,304,294 (GRCm39) G158S probably damaging Het
Mast1 G A 8: 85,662,352 (GRCm39) P52L probably damaging Het
Med13l A G 5: 118,899,388 (GRCm39) D2148G probably null Het
Med24 A G 11: 98,597,214 (GRCm39) S889P probably benign Het
Mgam T A 6: 40,736,054 (GRCm39) M851K probably damaging Het
Mkln1 T A 6: 31,484,602 (GRCm39) L710H probably damaging Het
Morf4l1 A T 9: 89,976,501 (GRCm39) F276I possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myt1 T A 2: 181,461,863 (GRCm39) S574R probably damaging Het
Nol11 C A 11: 107,059,173 (GRCm39) V644F probably damaging Het
Nusap1 C A 2: 119,458,172 (GRCm39) Q103K possibly damaging Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcdh9 C T 14: 94,124,974 (GRCm39) V399M probably damaging Het
Plekhh1 T C 12: 79,102,006 (GRCm39) S359P probably benign Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Ptpn14 C T 1: 189,582,743 (GRCm39) A530V probably benign Het
Rho A G 6: 115,910,863 (GRCm39) Y136C probably damaging Het
Rps3 C T 7: 99,129,103 (GRCm39) R173H probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall2 T C 14: 52,551,504 (GRCm39) N564D probably damaging Het
Sart3 G A 5: 113,890,488 (GRCm39) R452* probably null Het
Sbf2 T C 7: 110,046,298 (GRCm39) I300V probably damaging Het
Sgo2b A T 8: 64,381,767 (GRCm39) V355E possibly damaging Het
Slc22a5 T C 11: 53,756,651 (GRCm39) K553R possibly damaging Het
Syne1 A G 10: 5,355,456 (GRCm39) V375A probably damaging Het
Trafd1 T C 5: 121,516,804 (GRCm39) E28G probably benign Het
Tsc2 T C 17: 24,818,786 (GRCm39) K1292R probably damaging Het
Twnk A G 19: 44,995,890 (GRCm39) T108A probably damaging Het
Unc13c A T 9: 73,840,805 (GRCm39) H15Q probably benign Het
Vps16 T C 2: 130,280,596 (GRCm39) S208P possibly damaging Het
Other mutations in Csta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Csta1 APN 16 35,945,369 (GRCm39) missense probably damaging 1.00
IGL01090:Csta1 APN 16 35,945,421 (GRCm39) missense probably damaging 0.98
IGL03351:Csta1 APN 16 35,951,411 (GRCm39) nonsense probably null
R2059:Csta1 UTSW 16 35,942,692 (GRCm39) missense probably benign 0.34
R2234:Csta1 UTSW 16 35,945,445 (GRCm39) missense probably damaging 1.00
R2235:Csta1 UTSW 16 35,945,445 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTCAATGTTCCACTTTTAGC -3'
(R):5'- CCTCTAAGGGATGCAATAAGGC -3'

Sequencing Primer
(F):5'- GCTGTTATAAAAGTCTGAACAAAACC -3'
(R):5'- GCAATAAGGCTTGCCCGAG -3'
Posted On 2015-04-17