Incidental Mutation 'IGL01434:Cped1'
ID 84278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cped1
Ensembl Gene ENSMUSG00000062980
Gene Name cadherin-like and PC-esterase domain containing 1
Synonyms A430107O13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL01434
Quality Score
Status
Chromosome 6
Chromosomal Location 21985915-22256403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22017004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 118 (L118F)
Ref Sequence ENSEMBL: ENSMUSP00000138562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115382] [ENSMUST00000115383] [ENSMUST00000153922]
AlphaFold B2RX70
Predicted Effect probably damaging
Transcript: ENSMUST00000115382
AA Change: L118F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: L118F

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115383
AA Change: L118F

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: L118F

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Pfam:Cadherin-like 574 663 1e-9 PFAM
Pfam:PC-Esterase 753 1018 2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137437
SMART Domains Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Pfam:Cadherin-like 570 663 6.2e-12 PFAM
Pfam:PC-Esterase 753 963 1.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151315
SMART Domains Protein: ENSMUSP00000116822
Gene: ENSMUSG00000062980

DomainStartEndE-ValueType
low complexity region 83 95 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000153922
AA Change: L118F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138562
Gene: ENSMUSG00000062980
AA Change: L118F

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
low complexity region 130 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180395
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,380,297 (GRCm39) probably benign Het
Adcy7 A G 8: 89,051,472 (GRCm39) N864S probably damaging Het
Anapc7 A G 5: 122,576,279 (GRCm39) D302G probably benign Het
Atm A T 9: 53,419,107 (GRCm39) C782S probably benign Het
Bicdl1 G A 5: 115,808,215 (GRCm39) Q37* probably null Het
Cabin1 T C 10: 75,561,420 (GRCm39) D1027G possibly damaging Het
Cbl T C 9: 44,075,503 (GRCm39) I364V probably damaging Het
Ccer1 T C 10: 97,529,459 (GRCm39) S41P unknown Het
Cenpf G A 1: 189,390,065 (GRCm39) Q1256* probably null Het
Copa T A 1: 171,947,128 (GRCm39) I1093N probably benign Het
Cplane2 T C 4: 140,945,964 (GRCm39) V169A probably benign Het
Cstdc4 T A 16: 36,006,777 (GRCm39) V37E probably benign Het
Dner T C 1: 84,361,731 (GRCm39) H626R probably benign Het
Ears2 G A 7: 121,662,311 (GRCm39) probably benign Het
Eif3c A G 7: 126,155,582 (GRCm39) I562T probably damaging Het
Eml6 T C 11: 29,769,090 (GRCm39) Y685C probably damaging Het
Garin1b T C 6: 29,320,700 (GRCm39) V108A probably damaging Het
Gpt A G 15: 76,582,982 (GRCm39) K321E probably damaging Het
Hspd1 C T 1: 55,120,285 (GRCm39) G306R probably damaging Het
Kmt2c T C 5: 25,614,306 (GRCm39) Y138C probably damaging Het
Lhcgr A G 17: 89,049,865 (GRCm39) Y554H probably damaging Het
Nell1 A T 7: 50,350,956 (GRCm39) K534N probably benign Het
Nob1 A G 8: 108,151,360 (GRCm39) probably benign Het
Or13a17 G A 7: 140,271,531 (GRCm39) A238T probably damaging Het
Phf12 C T 11: 77,914,385 (GRCm39) P60L probably damaging Het
Prkdc A G 16: 15,531,451 (GRCm39) E1358G probably benign Het
Rimbp3 A G 16: 17,029,566 (GRCm39) T997A probably benign Het
Slc9a9 T A 9: 94,901,247 (GRCm39) N393K possibly damaging Het
Sohlh2 T C 3: 55,102,582 (GRCm39) S206P probably damaging Het
Stard10 G A 7: 100,971,187 (GRCm39) V125M probably benign Het
Tff2 G T 17: 31,362,240 (GRCm39) probably null Het
Tha1 T C 11: 117,759,425 (GRCm39) T355A probably benign Het
Tmem120a G T 5: 135,765,864 (GRCm39) F127L possibly damaging Het
Tmem41b A G 7: 109,577,909 (GRCm39) probably benign Het
Tonsl T C 15: 76,515,302 (GRCm39) D1028G probably benign Het
Other mutations in Cped1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Cped1 APN 6 22,215,522 (GRCm39) missense probably damaging 1.00
IGL00909:Cped1 APN 6 22,122,426 (GRCm39) splice site probably benign
IGL01572:Cped1 APN 6 22,051,300 (GRCm39) missense probably benign 0.00
IGL02063:Cped1 APN 6 22,138,701 (GRCm39) missense probably damaging 0.98
IGL02216:Cped1 APN 6 22,059,944 (GRCm39) missense probably damaging 1.00
IGL02257:Cped1 APN 6 22,145,606 (GRCm39) missense possibly damaging 0.86
IGL02541:Cped1 APN 6 22,120,988 (GRCm39) missense probably benign 0.00
IGL03008:Cped1 APN 6 22,233,601 (GRCm39) missense probably benign 0.01
IGL03237:Cped1 APN 6 22,233,595 (GRCm39) missense probably damaging 1.00
PIT4382001:Cped1 UTSW 6 22,222,449 (GRCm39) nonsense probably null
PIT4812001:Cped1 UTSW 6 22,122,293 (GRCm39) missense probably benign 0.02
R0048:Cped1 UTSW 6 22,119,601 (GRCm39) missense probably benign 0.08
R0128:Cped1 UTSW 6 22,121,038 (GRCm39) missense probably benign 0.00
R0130:Cped1 UTSW 6 22,121,038 (GRCm39) missense probably benign 0.00
R0267:Cped1 UTSW 6 22,119,475 (GRCm39) missense probably damaging 0.99
R0374:Cped1 UTSW 6 22,222,545 (GRCm39) splice site probably benign
R0482:Cped1 UTSW 6 22,016,957 (GRCm39) missense probably benign 0.32
R0734:Cped1 UTSW 6 22,085,040 (GRCm39) missense probably damaging 1.00
R1033:Cped1 UTSW 6 22,016,950 (GRCm39) missense probably damaging 0.99
R1118:Cped1 UTSW 6 22,237,698 (GRCm39) missense probably benign 0.19
R1181:Cped1 UTSW 6 22,215,561 (GRCm39) missense probably damaging 0.99
R1300:Cped1 UTSW 6 22,119,552 (GRCm39) missense probably benign 0.00
R1485:Cped1 UTSW 6 22,132,387 (GRCm39) critical splice donor site probably null
R1507:Cped1 UTSW 6 22,122,260 (GRCm39) missense probably damaging 1.00
R1830:Cped1 UTSW 6 22,237,727 (GRCm39) missense probably damaging 1.00
R1879:Cped1 UTSW 6 22,085,014 (GRCm39) splice site probably null
R1902:Cped1 UTSW 6 22,120,980 (GRCm39) splice site probably null
R1991:Cped1 UTSW 6 22,233,926 (GRCm39) missense probably damaging 1.00
R2020:Cped1 UTSW 6 22,143,963 (GRCm39) missense probably benign 0.38
R2883:Cped1 UTSW 6 22,143,978 (GRCm39) missense probably damaging 1.00
R3011:Cped1 UTSW 6 22,088,695 (GRCm39) missense probably damaging 1.00
R4466:Cped1 UTSW 6 22,123,651 (GRCm39) missense probably benign 0.29
R4668:Cped1 UTSW 6 22,237,652 (GRCm39) missense probably benign 0.06
R4808:Cped1 UTSW 6 22,088,756 (GRCm39) missense probably damaging 1.00
R5402:Cped1 UTSW 6 22,143,951 (GRCm39) missense probably benign 0.05
R5417:Cped1 UTSW 6 22,233,579 (GRCm39) missense probably null 0.01
R5741:Cped1 UTSW 6 22,123,620 (GRCm39) missense probably benign 0.02
R5821:Cped1 UTSW 6 22,138,681 (GRCm39) missense probably benign 0.00
R5977:Cped1 UTSW 6 22,254,607 (GRCm39) missense probably damaging 1.00
R6255:Cped1 UTSW 6 22,138,714 (GRCm39) splice site probably null
R6304:Cped1 UTSW 6 22,016,922 (GRCm39) missense probably benign 0.14
R6416:Cped1 UTSW 6 22,123,648 (GRCm39) missense probably damaging 1.00
R6444:Cped1 UTSW 6 21,986,930 (GRCm39) missense probably benign 0.00
R6617:Cped1 UTSW 6 22,215,546 (GRCm39) nonsense probably null
R6650:Cped1 UTSW 6 22,233,975 (GRCm39) missense probably damaging 1.00
R7048:Cped1 UTSW 6 22,119,469 (GRCm39) missense probably benign 0.36
R7083:Cped1 UTSW 6 22,123,579 (GRCm39) missense probably benign 0.01
R7234:Cped1 UTSW 6 22,254,625 (GRCm39) missense probably damaging 0.99
R7387:Cped1 UTSW 6 22,059,933 (GRCm39) missense probably benign 0.01
R7493:Cped1 UTSW 6 22,215,512 (GRCm39) missense probably damaging 1.00
R7720:Cped1 UTSW 6 22,222,430 (GRCm39) missense probably damaging 1.00
R7747:Cped1 UTSW 6 22,143,973 (GRCm39) missense probably damaging 1.00
R7966:Cped1 UTSW 6 22,059,953 (GRCm39) critical splice donor site probably null
R8113:Cped1 UTSW 6 22,233,480 (GRCm39) missense possibly damaging 0.89
R8186:Cped1 UTSW 6 22,123,587 (GRCm39) missense probably benign 0.01
R8215:Cped1 UTSW 6 22,132,277 (GRCm39) missense probably damaging 1.00
R8265:Cped1 UTSW 6 22,222,426 (GRCm39) missense probably benign 0.04
R8280:Cped1 UTSW 6 21,986,820 (GRCm39) missense unknown
R8286:Cped1 UTSW 6 22,254,601 (GRCm39) missense probably benign 0.03
R8393:Cped1 UTSW 6 22,222,465 (GRCm39) missense possibly damaging 0.80
R8503:Cped1 UTSW 6 22,145,564 (GRCm39) missense probably benign 0.02
R8725:Cped1 UTSW 6 22,059,941 (GRCm39) missense possibly damaging 0.71
R8727:Cped1 UTSW 6 22,059,941 (GRCm39) missense possibly damaging 0.71
R8852:Cped1 UTSW 6 22,215,620 (GRCm39) missense probably damaging 1.00
R8881:Cped1 UTSW 6 22,119,578 (GRCm39) missense possibly damaging 0.58
R8888:Cped1 UTSW 6 22,016,962 (GRCm39) missense possibly damaging 0.51
R8983:Cped1 UTSW 6 22,138,686 (GRCm39) missense probably benign 0.00
R9135:Cped1 UTSW 6 21,987,012 (GRCm39) missense probably damaging 0.98
X0022:Cped1 UTSW 6 21,987,045 (GRCm39) missense probably benign 0.05
Posted On 2013-11-11