Incidental Mutation 'IGL02934:Cachd1'
ID 364219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cachd1
Ensembl Gene ENSMUSG00000028532
Gene Name cache domain containing 1
Synonyms Vwcd1, 1190007F10Rik, B430218L07Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # IGL02934
Quality Score
Status
Chromosome 4
Chromosomal Location 100633870-100861741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100825295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 583 (S583L)
Ref Sequence ENSEMBL: ENSMUSP00000030257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030257] [ENSMUST00000097955]
AlphaFold Q6PDJ1
Predicted Effect probably damaging
Transcript: ENSMUST00000030257
AA Change: S583L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: S583L

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
Pfam:VWA_N 103 218 9.4e-22 PFAM
VWA 240 438 2.8e-1 SMART
Pfam:Cache_1 467 543 2.4e-12 PFAM
Pfam:Cache_1 786 871 1.5e-7 PFAM
low complexity region 981 996 N/A INTRINSIC
transmembrane domain 1109 1131 N/A INTRINSIC
low complexity region 1159 1173 N/A INTRINSIC
low complexity region 1240 1246 N/A INTRINSIC
low complexity region 1260 1274 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097955
AA Change: S583L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: S583L

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
Pfam:VWA_N 103 218 6.7e-32 PFAM
VWA 240 438 2.8e-1 SMART
Pfam:Cache_1 467 543 1.7e-12 PFAM
low complexity region 801 818 N/A INTRINSIC
low complexity region 981 996 N/A INTRINSIC
transmembrane domain 1109 1131 N/A INTRINSIC
low complexity region 1159 1173 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,956,008 (GRCm39) R716* probably null Het
Abca8a A T 11: 109,931,414 (GRCm39) N1246K probably damaging Het
Acadl A G 1: 66,876,134 (GRCm39) Y396H probably benign Het
Apol7c A T 15: 77,410,318 (GRCm39) S209R possibly damaging Het
Atp1a1 A T 3: 101,484,308 (GRCm39) C990* probably null Het
Cbfa2t3 T C 8: 123,374,497 (GRCm39) T48A probably benign Het
Ccdc138 G T 10: 58,409,402 (GRCm39) probably benign Het
Cenpe A G 3: 134,970,112 (GRCm39) E2231G probably damaging Het
Cog3 T C 14: 75,979,129 (GRCm39) I206V probably damaging Het
Cr2 A G 1: 194,836,633 (GRCm39) probably benign Het
Ctdspl2 T C 2: 121,809,490 (GRCm39) V147A probably damaging Het
Cyp4f13 A G 17: 33,148,845 (GRCm39) V300A probably damaging Het
Dkk3 A T 7: 111,749,954 (GRCm39) M72K probably damaging Het
Dock3 A T 9: 106,900,944 (GRCm39) F340L probably benign Het
Fut1 A G 7: 45,268,127 (GRCm39) H27R possibly damaging Het
Igkv4-80 A G 6: 68,993,840 (GRCm39) V17A probably benign Het
Igkv9-123 G A 6: 67,931,380 (GRCm39) P62L possibly damaging Het
Kmt2e T C 5: 23,702,882 (GRCm39) S1021P probably damaging Het
Krt13 A C 11: 100,009,910 (GRCm39) L320R probably damaging Het
Ldhal6b T C 17: 5,467,819 (GRCm39) T372A probably benign Het
Manba T C 3: 135,250,510 (GRCm39) V379A probably benign Het
Map1b C T 13: 99,571,639 (GRCm39) V361I probably benign Het
Map4k1 A G 7: 28,693,531 (GRCm39) S399G probably benign Het
Mff G A 1: 82,724,815 (GRCm39) R229H probably damaging Het
Naga T C 15: 82,214,401 (GRCm39) N370S possibly damaging Het
Ncor2 A T 5: 125,102,621 (GRCm39) M2045K probably benign Het
Nipal1 T C 5: 72,805,250 (GRCm39) L7P probably damaging Het
Or10p22 T A 10: 128,825,958 (GRCm39) M59K probably damaging Het
Pcmt1 A T 10: 7,516,491 (GRCm39) M187K probably benign Het
Perp A T 10: 18,731,520 (GRCm39) T160S probably damaging Het
Rapgef6 G A 11: 54,516,690 (GRCm39) D169N probably damaging Het
Sel1l G A 12: 91,776,710 (GRCm39) Q711* probably null Het
Septin5 T C 16: 18,448,581 (GRCm39) Y7C probably damaging Het
Spdya A T 17: 71,863,395 (GRCm39) N48I probably benign Het
Stard6 T A 18: 70,629,175 (GRCm39) probably benign Het
Sytl2 T C 7: 90,025,200 (GRCm39) V396A probably benign Het
Tcaf3 T G 6: 42,570,832 (GRCm39) M307L probably benign Het
Tdrd6 T C 17: 43,938,778 (GRCm39) N757D probably benign Het
Tgm1 T A 14: 55,947,446 (GRCm39) D305V probably damaging Het
Themis2 T A 4: 132,516,862 (GRCm39) M213L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tmem214 A G 5: 31,028,888 (GRCm39) E159G probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Tshz1 A T 18: 84,031,215 (GRCm39) S1064R probably damaging Het
Ubr2 C T 17: 47,268,266 (GRCm39) E983K possibly damaging Het
Vmn1r23 A T 6: 57,902,914 (GRCm39) I288N probably benign Het
Vmn2r97 T C 17: 19,149,947 (GRCm39) V445A probably benign Het
Whrn G A 4: 63,334,342 (GRCm39) T813M probably damaging Het
Xirp2 C T 2: 67,346,020 (GRCm39) H2754Y probably benign Het
Other mutations in Cachd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Cachd1 APN 4 100,824,163 (GRCm39) missense probably benign 0.05
IGL01531:Cachd1 APN 4 100,810,231 (GRCm39) missense probably benign 0.02
IGL01705:Cachd1 APN 4 100,840,736 (GRCm39) missense possibly damaging 0.46
IGL01843:Cachd1 APN 4 100,850,069 (GRCm39) missense probably damaging 0.98
IGL01938:Cachd1 APN 4 100,831,325 (GRCm39) missense possibly damaging 0.59
IGL02268:Cachd1 APN 4 100,809,294 (GRCm39) missense possibly damaging 0.75
IGL03019:Cachd1 APN 4 100,809,282 (GRCm39) missense probably damaging 0.98
IGL03084:Cachd1 APN 4 100,860,285 (GRCm39) missense probably damaging 0.99
R0366:Cachd1 UTSW 4 100,851,934 (GRCm39) missense possibly damaging 0.94
R0395:Cachd1 UTSW 4 100,810,402 (GRCm39) missense probably damaging 1.00
R0520:Cachd1 UTSW 4 100,754,900 (GRCm39) missense probably damaging 0.99
R0578:Cachd1 UTSW 4 100,852,039 (GRCm39) splice site probably benign
R0646:Cachd1 UTSW 4 100,845,418 (GRCm39) missense probably damaging 1.00
R0689:Cachd1 UTSW 4 100,832,073 (GRCm39) missense probably damaging 1.00
R0962:Cachd1 UTSW 4 100,840,498 (GRCm39) splice site probably benign
R1156:Cachd1 UTSW 4 100,845,816 (GRCm39) missense probably damaging 1.00
R1157:Cachd1 UTSW 4 100,832,037 (GRCm39) missense possibly damaging 0.77
R1314:Cachd1 UTSW 4 100,832,114 (GRCm39) missense probably damaging 1.00
R1482:Cachd1 UTSW 4 100,845,795 (GRCm39) missense possibly damaging 0.94
R1632:Cachd1 UTSW 4 100,824,169 (GRCm39) missense probably benign 0.02
R1774:Cachd1 UTSW 4 100,824,240 (GRCm39) missense probably benign 0.02
R1774:Cachd1 UTSW 4 100,821,632 (GRCm39) missense probably damaging 1.00
R1845:Cachd1 UTSW 4 100,634,555 (GRCm39) missense probably benign 0.01
R1869:Cachd1 UTSW 4 100,840,587 (GRCm39) missense probably damaging 1.00
R1912:Cachd1 UTSW 4 100,810,366 (GRCm39) missense probably damaging 0.99
R2069:Cachd1 UTSW 4 100,848,041 (GRCm39) missense probably damaging 1.00
R2082:Cachd1 UTSW 4 100,860,155 (GRCm39) missense probably damaging 1.00
R2267:Cachd1 UTSW 4 100,806,266 (GRCm39) splice site probably benign
R2517:Cachd1 UTSW 4 100,838,079 (GRCm39) splice site probably null
R2896:Cachd1 UTSW 4 100,828,100 (GRCm39) missense probably damaging 1.00
R3729:Cachd1 UTSW 4 100,832,077 (GRCm39) nonsense probably null
R3818:Cachd1 UTSW 4 100,848,062 (GRCm39) missense probably damaging 1.00
R3979:Cachd1 UTSW 4 100,828,085 (GRCm39) missense probably damaging 1.00
R4647:Cachd1 UTSW 4 100,810,327 (GRCm39) nonsense probably null
R4791:Cachd1 UTSW 4 100,775,282 (GRCm39) missense probably damaging 1.00
R5133:Cachd1 UTSW 4 100,851,935 (GRCm39) missense probably damaging 0.98
R5147:Cachd1 UTSW 4 100,821,688 (GRCm39) missense probably damaging 1.00
R5187:Cachd1 UTSW 4 100,823,397 (GRCm39) missense possibly damaging 0.94
R5322:Cachd1 UTSW 4 100,809,319 (GRCm39) missense probably damaging 0.98
R5335:Cachd1 UTSW 4 100,825,282 (GRCm39) missense possibly damaging 0.88
R5390:Cachd1 UTSW 4 100,838,203 (GRCm39) missense probably damaging 1.00
R5573:Cachd1 UTSW 4 100,831,276 (GRCm39) missense probably damaging 0.99
R5578:Cachd1 UTSW 4 100,722,203 (GRCm39) missense probably benign 0.31
R5905:Cachd1 UTSW 4 100,840,753 (GRCm39) missense probably damaging 0.99
R6003:Cachd1 UTSW 4 100,809,216 (GRCm39) missense possibly damaging 0.79
R6028:Cachd1 UTSW 4 100,840,753 (GRCm39) missense probably damaging 0.99
R6185:Cachd1 UTSW 4 100,838,228 (GRCm39) nonsense probably null
R6367:Cachd1 UTSW 4 100,860,167 (GRCm39) missense probably damaging 1.00
R6492:Cachd1 UTSW 4 100,809,315 (GRCm39) missense possibly damaging 0.89
R6591:Cachd1 UTSW 4 100,846,683 (GRCm39) missense probably benign
R6691:Cachd1 UTSW 4 100,846,683 (GRCm39) missense probably benign
R7129:Cachd1 UTSW 4 100,775,263 (GRCm39) missense probably null 0.99
R7187:Cachd1 UTSW 4 100,833,552 (GRCm39) missense possibly damaging 0.95
R7387:Cachd1 UTSW 4 100,634,375 (GRCm39) missense unknown
R7833:Cachd1 UTSW 4 100,832,012 (GRCm39) missense probably benign 0.09
R7835:Cachd1 UTSW 4 100,831,350 (GRCm39) splice site probably null
R7838:Cachd1 UTSW 4 100,824,211 (GRCm39) missense possibly damaging 0.71
R7867:Cachd1 UTSW 4 100,845,759 (GRCm39) missense probably damaging 0.97
R7882:Cachd1 UTSW 4 100,824,244 (GRCm39) missense probably benign 0.29
R7941:Cachd1 UTSW 4 100,845,370 (GRCm39) missense probably damaging 1.00
R7978:Cachd1 UTSW 4 100,832,060 (GRCm39) missense probably damaging 1.00
R8085:Cachd1 UTSW 4 100,845,361 (GRCm39) missense probably damaging 1.00
R8153:Cachd1 UTSW 4 100,845,835 (GRCm39) critical splice donor site probably null
R8174:Cachd1 UTSW 4 100,823,466 (GRCm39) missense probably damaging 0.99
R8219:Cachd1 UTSW 4 100,848,159 (GRCm39) missense probably benign 0.34
R8358:Cachd1 UTSW 4 100,816,668 (GRCm39) missense possibly damaging 0.94
R8376:Cachd1 UTSW 4 100,832,073 (GRCm39) missense probably damaging 0.99
R8686:Cachd1 UTSW 4 100,845,325 (GRCm39) missense probably damaging 0.99
R8747:Cachd1 UTSW 4 100,860,045 (GRCm39) intron probably benign
R8845:Cachd1 UTSW 4 100,810,343 (GRCm39) missense probably benign 0.36
R8864:Cachd1 UTSW 4 100,852,026 (GRCm39) missense probably damaging 0.99
R8869:Cachd1 UTSW 4 100,809,280 (GRCm39) missense probably benign 0.09
R8870:Cachd1 UTSW 4 100,754,978 (GRCm39) missense probably damaging 0.99
R8904:Cachd1 UTSW 4 100,810,363 (GRCm39) missense probably damaging 1.00
R8958:Cachd1 UTSW 4 100,851,283 (GRCm39) missense probably benign 0.11
R9061:Cachd1 UTSW 4 100,809,202 (GRCm39) critical splice acceptor site probably null
R9193:Cachd1 UTSW 4 100,634,339 (GRCm39) missense unknown
R9304:Cachd1 UTSW 4 100,824,179 (GRCm39) missense possibly damaging 0.81
R9358:Cachd1 UTSW 4 100,833,622 (GRCm39) missense probably damaging 0.99
R9373:Cachd1 UTSW 4 100,832,067 (GRCm39) missense possibly damaging 0.94
R9425:Cachd1 UTSW 4 100,832,057 (GRCm39) missense probably benign
R9632:Cachd1 UTSW 4 100,832,092 (GRCm39) missense probably benign 0.34
R9710:Cachd1 UTSW 4 100,832,092 (GRCm39) missense probably benign 0.34
R9751:Cachd1 UTSW 4 100,823,438 (GRCm39) missense possibly damaging 0.88
Posted On 2015-12-18