Incidental Mutation 'IGL01973:Cts7'
ID182577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cts7
Ensembl Gene ENSMUSG00000021440
Gene Namecathepsin 7
SynonymsEpcs24, Epcs71, CTS1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.225) question?
Stock #IGL01973
Quality Score
Status
Chromosome13
Chromosomal Location61352461-61358197 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 61355600 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 183 (D183E)
Ref Sequence ENSEMBL: ENSMUSP00000153508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021892] [ENSMUST00000224773] [ENSMUST00000224986] [ENSMUST00000225321]
Predicted Effect probably benign
Transcript: ENSMUST00000021892
AA Change: D183E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: D183E

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Inhibitor_I29 29 88 2.02e-15 SMART
Pept_C1 112 330 6.25e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224773
Predicted Effect probably benign
Transcript: ENSMUST00000224986
AA Change: D183E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000225321
AA Change: D183E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,011,171 W59R probably damaging Het
Adam17 C T 12: 21,349,943 R154K probably damaging Het
Atp9b A T 18: 80,758,303 F791I probably benign Het
Atr T G 9: 95,871,674 S776R probably damaging Het
AW554918 A T 18: 25,419,999 T487S probably damaging Het
Bckdhb T A 9: 83,991,736 F217Y probably benign Het
Cacna1i G A 15: 80,382,033 A1574T probably damaging Het
Ccdc150 G A 1: 54,300,488 probably null Het
Clca4c-ps A T 3: 144,879,832 noncoding transcript Het
Clec4a1 T C 6: 122,930,721 S123P probably damaging Het
Col6a4 T C 9: 106,062,894 Y1279C probably damaging Het
Cox8c T A 12: 102,899,367 M1K probably null Het
Crat G T 2: 30,405,481 S370Y probably damaging Het
Cyp1a2 C A 9: 57,682,395 W45C probably damaging Het
Eml5 T A 12: 98,863,280 I492L probably benign Het
Fbxl4 T G 4: 22,422,766 L456R probably damaging Het
Flt1 G T 5: 147,683,889 H148Q probably benign Het
Galnt3 T C 2: 66,084,262 M604V probably benign Het
Gatb T C 3: 85,611,424 V279A probably damaging Het
Gm6904 A G 14: 59,251,129 V73A probably benign Het
Gm996 G T 2: 25,579,572 S109* probably null Het
Heatr1 C A 13: 12,429,799 H1543Q probably benign Het
Ighg2b C T 12: 113,307,685 V83I unknown Het
Jcad A G 18: 4,675,514 Q1092R probably benign Het
Kirrel3 A G 9: 35,016,468 E6G probably damaging Het
Klhl22 A G 16: 17,792,711 S609G probably benign Het
Kntc1 A G 5: 123,765,958 Y346C probably damaging Het
Maneal T C 4: 124,859,155 D233G probably benign Het
Mcm3ap T C 10: 76,471,117 S355P probably benign Het
Mettl11b A G 1: 163,717,120 I98T probably benign Het
Mtus2 C T 5: 148,303,476 probably benign Het
Muc4 A G 16: 32,754,265 T1380A probably benign Het
Nedd4 T A 9: 72,736,934 M661K possibly damaging Het
Nomo1 T C 7: 46,083,227 probably benign Het
Ntsr2 T A 12: 16,656,774 W268R probably benign Het
Nup188 A C 2: 30,339,850 Q1360P possibly damaging Het
Olfr15 A T 16: 3,839,777 Q268L probably damaging Het
Olfr231 A G 1: 174,117,533 F161S probably damaging Het
Pabpc1 A T 15: 36,599,275 V392E probably benign Het
Pcdhb11 C A 18: 37,423,512 R632S probably damaging Het
Pnpla6 T A 8: 3,517,619 M87K probably damaging Het
Prkd1 C T 12: 50,366,379 G670R probably damaging Het
Raf1 G A 6: 115,676,569 probably benign Het
Rapgef2 T A 3: 79,091,809 probably null Het
Rnf215 A T 11: 4,136,615 H164L probably damaging Het
Slc24a3 T C 2: 145,245,027 V19A probably benign Het
Tbc1d16 A T 11: 119,156,707 V396E probably benign Het
Tecpr1 T C 5: 144,197,988 probably benign Het
Thap12 T A 7: 98,716,499 Y625N possibly damaging Het
Tshz2 A T 2: 169,884,683 M400L probably damaging Het
Ttc28 A G 5: 111,224,235 Y850C possibly damaging Het
Ugt1a7c A G 1: 88,095,134 D5G probably benign Het
Vmn2r10 C T 5: 108,995,677 M802I probably damaging Het
Washc4 T C 10: 83,556,109 Y220H probably damaging Het
Zfhx3 T A 8: 108,947,193 M1625K probably damaging Het
Zfp677 T A 17: 21,396,907 N75K probably damaging Het
Zzz3 T C 3: 152,428,370 V355A probably benign Het
Other mutations in Cts7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Cts7 APN 13 61356909 critical splice donor site probably null
IGL01954:Cts7 APN 13 61352823 missense probably benign 0.06
IGL02098:Cts7 APN 13 61356529 missense probably damaging 1.00
IGL02716:Cts7 APN 13 61356608 missense probably benign 0.01
IGL02903:Cts7 APN 13 61356626 splice site probably benign
IGL03351:Cts7 APN 13 61356603 missense probably damaging 1.00
R0691:Cts7 UTSW 13 61355734 missense probably damaging 1.00
R1168:Cts7 UTSW 13 61353817 missense probably damaging 0.99
R1711:Cts7 UTSW 13 61352810 missense probably damaging 1.00
R2352:Cts7 UTSW 13 61352772 nonsense probably null
R2442:Cts7 UTSW 13 61355617 nonsense probably null
R3817:Cts7 UTSW 13 61356536 missense probably damaging 0.98
R5513:Cts7 UTSW 13 61355584 missense possibly damaging 0.70
R5870:Cts7 UTSW 13 61355731 missense probably damaging 0.99
R6286:Cts7 UTSW 13 61352770 missense probably damaging 1.00
R6288:Cts7 UTSW 13 61352770 missense probably damaging 1.00
R6479:Cts7 UTSW 13 61355641 missense probably benign 0.00
R6653:Cts7 UTSW 13 61355003 missense probably damaging 1.00
R6721:Cts7 UTSW 13 61356294 missense probably damaging 1.00
Posted On2014-05-07