Incidental Mutation 'R4464:Cst12'
ID 330263
Institutional Source Beutler Lab
Gene Symbol Cst12
Ensembl Gene ENSMUSG00000027443
Gene Name cystatin 12
Synonyms 1700006F03Rik, cystatin TE-1
MMRRC Submission 041722-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R4464 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 148631285-148635352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 148631437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 53 (V53I)
Ref Sequence ENSEMBL: ENSMUSP00000126008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028932] [ENSMUST00000028933] [ENSMUST00000168443]
AlphaFold Q9DAN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000028932
AA Change: V40I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028932
Gene: ENSMUSG00000027443
AA Change: V40I

DomainStartEndE-ValueType
CY 18 126 9.57e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028933
SMART Domains Protein: ENSMUSP00000028933
Gene: ENSMUSG00000027444

DomainStartEndE-ValueType
CY 20 128 2.25e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168443
AA Change: V53I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126008
Gene: ENSMUSG00000027443
AA Change: V53I

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CY 31 139 4.8e-5 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc3 A G 11: 94,249,612 (GRCm39) V1111A probably benign Het
Acot10 G A 15: 20,665,830 (GRCm39) R304* probably null Het
Aldh8a1 C A 10: 21,264,840 (GRCm39) probably benign Het
Alms1 A G 6: 85,597,003 (GRCm39) T1079A possibly damaging Het
Armc3 T C 2: 19,253,470 (GRCm39) Y204H probably damaging Het
Asnsd1 C A 1: 53,391,686 (GRCm39) probably null Het
Atad5 T A 11: 79,991,137 (GRCm39) probably null Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dennd1a A T 2: 38,133,402 (GRCm39) probably benign Het
Gm7535 C A 17: 18,131,924 (GRCm39) probably benign Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Ifngr1 G A 10: 19,473,265 (GRCm39) V72I possibly damaging Het
Kifap3 C A 1: 163,645,464 (GRCm39) Q269K probably benign Het
Krt86 G A 15: 101,371,795 (GRCm39) D122N probably damaging Het
Lrrcc1 A G 3: 14,622,378 (GRCm39) K694E probably damaging Het
Mbd4 A G 6: 115,826,463 (GRCm39) L155S probably damaging Het
Nalcn T C 14: 123,560,762 (GRCm39) N772D probably benign Het
Or12d17 C T 17: 37,777,742 (GRCm39) S215F probably damaging Het
Prxl2a T A 14: 40,719,832 (GRCm39) K127N probably damaging Het
Psg29 A T 7: 16,944,575 (GRCm39) N362Y possibly damaging Het
Ptpn23 G A 9: 110,215,881 (GRCm39) T1325I probably damaging Het
Rad51ap1 T C 6: 126,911,731 (GRCm39) N52S possibly damaging Het
Rb1 C A 14: 73,436,638 (GRCm39) probably null Het
Slc34a2 T C 5: 53,226,524 (GRCm39) L490P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
St3gal2 A G 8: 111,694,134 (GRCm39) N207D probably benign Het
Stat1 T G 1: 52,176,575 (GRCm39) D257E possibly damaging Het
Tkt A G 14: 30,290,231 (GRCm39) T165A possibly damaging Het
Trim66 A T 7: 109,076,897 (GRCm39) S347R possibly damaging Het
Zfp429 T C 13: 67,538,617 (GRCm39) I276V probably benign Het
Other mutations in Cst12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Cst12 APN 2 148,631,468 (GRCm39) missense probably damaging 1.00
IGL02069:Cst12 APN 2 148,634,368 (GRCm39) missense probably damaging 1.00
R1517:Cst12 UTSW 2 148,635,172 (GRCm39) missense possibly damaging 0.49
R4764:Cst12 UTSW 2 148,631,393 (GRCm39) missense possibly damaging 0.78
R7862:Cst12 UTSW 2 148,631,495 (GRCm39) missense probably damaging 0.97
R8199:Cst12 UTSW 2 148,631,459 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- ATGTGGGATGCATCACCATCTG -3'
(R):5'- AGACATTGGTGCCTCCCTTC -3'

Sequencing Primer
(F):5'- GCATCACCATCTGCAGCTG -3'
(R):5'- CCTTTCAGAGGCTACACTCAC -3'
Posted On 2015-07-21