Incidental Mutation 'R0598:Cstdc7'
ID 55184
Institutional Source Beutler Lab
Gene Symbol Cstdc7
Ensembl Gene ENSMUSG00000034339
Gene Name cystatin domain containing 7
Synonyms Gm5689
MMRRC Submission 038787-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R0598 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 42306435-42306728 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 42306436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000129889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041389]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000041389
AA Change: M1K

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129889
Gene: ENSMUSG00000034339
AA Change: M1K

DomainStartEndE-ValueType
CY 1 97 9.08e-23 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,681 (GRCm39) E198D possibly damaging Het
Abca6 A T 11: 110,087,980 (GRCm39) I1049N probably damaging Het
Acly A T 11: 100,369,216 (GRCm39) N1014K probably damaging Het
Aoc1l1 A G 6: 48,952,471 (GRCm39) E132G probably benign Het
Aph1c A T 9: 66,740,601 (GRCm39) W42R probably damaging Het
Bptf G T 11: 106,963,791 (GRCm39) T1738K probably damaging Het
Cdhr2 A T 13: 54,874,552 (GRCm39) I875F probably damaging Het
Cpt2 G T 4: 107,764,135 (GRCm39) T543N probably damaging Het
Dnah9 T C 11: 66,009,703 (GRCm39) E728G probably benign Het
Itgbl1 A G 14: 124,094,848 (GRCm39) H167R possibly damaging Het
Kctd1 A G 18: 15,140,822 (GRCm39) V40A probably damaging Het
L3mbtl4 T G 17: 68,766,768 (GRCm39) D158E probably benign Het
Lrp8 A C 4: 107,714,434 (GRCm39) I603L possibly damaging Het
Lypd8l G A 11: 58,499,230 (GRCm39) S196L probably benign Het
Mrps9 C T 1: 42,944,577 (GRCm39) T365I probably damaging Het
Or1a1 A T 11: 74,086,658 (GRCm39) T110S possibly damaging Het
Or1e1 G T 11: 73,244,729 (GRCm39) R50L probably benign Het
Or2y1d A G 11: 49,322,230 (GRCm39) D309G probably benign Het
Padi1 C A 4: 140,542,098 (GRCm39) R608L possibly damaging Het
Pkhd1 A T 1: 20,271,114 (GRCm39) F3146L probably damaging Het
Rnf145 T C 11: 44,439,770 (GRCm39) S189P probably damaging Het
Sez6 G T 11: 77,868,647 (GRCm39) D974Y possibly damaging Het
St3gal3 A T 4: 117,964,829 (GRCm39) L11Q probably benign Het
Syt14 T C 1: 192,579,622 (GRCm39) E554G probably damaging Het
Tectb G T 19: 55,178,018 (GRCm39) E170* probably null Het
Themis2 A T 4: 132,516,994 (GRCm39) C169S possibly damaging Het
Tmem88b A T 4: 155,868,824 (GRCm39) D141E probably benign Het
Uaca T A 9: 60,778,203 (GRCm39) Y685* probably null Het
Vsnl1 T C 12: 11,436,860 (GRCm39) S40G probably benign Het
Vxn T G 1: 9,690,067 (GRCm39) I98S probably benign Het
Wdr64 A T 1: 175,633,465 (GRCm39) Q905H probably damaging Het
Other mutations in Cstdc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0164:Cstdc7 UTSW 18 42,306,608 (GRCm39) missense probably damaging 0.99
R0164:Cstdc7 UTSW 18 42,306,608 (GRCm39) missense probably damaging 0.99
R1595:Cstdc7 UTSW 18 42,306,454 (GRCm39) missense probably benign
R5341:Cstdc7 UTSW 18 42,306,496 (GRCm39) missense possibly damaging 0.91
R5528:Cstdc7 UTSW 18 42,306,727 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TTGCAATAAGGCTTGCCCGAGG -3'
(R):5'- TGGCCGCATCAGTTTACAATGAGAG -3'

Sequencing Primer
(F):5'- CGAGGCCACACTCATTTCC -3'
(R):5'- AGTCTGGTAACCAGTAAGTTCC -3'
Posted On 2013-07-11