Incidental Mutation 'R7978:Cachd1'
ID 651018
Institutional Source Beutler Lab
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 # R7978 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 100633870-100861741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100832060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 741 (Y741H)
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: Y741H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: Y741H

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 damaging
Transcript: ENSMUST00000097955
AA Change: Y741H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: Y741H

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,036,515 (GRCm39) I342N probably damaging Het
Alb A T 5: 90,619,932 (GRCm39) N453I possibly damaging Het
Aox4 C A 1: 58,274,366 (GRCm39) S384Y probably damaging Het
Ap1g1 C T 8: 110,564,399 (GRCm39) R315* probably null Het
Cacna2d2 C G 9: 107,395,456 (GRCm39) L661V probably benign Het
Ccdc90b T A 7: 92,216,921 (GRCm39) H64Q probably damaging Het
Ccdc93 C A 1: 121,426,960 (GRCm39) N582K possibly damaging Het
Cdh20 A G 1: 109,921,835 (GRCm39) probably benign Het
Cnksr1 T C 4: 133,963,342 (GRCm39) N78D probably damaging Het
Cttnbp2nl A G 3: 104,915,307 (GRCm39) V132A probably damaging Het
Cwc25 G A 11: 97,644,044 (GRCm39) Q230* probably null Het
Dsel G A 1: 111,787,449 (GRCm39) R1029* probably null Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Fam120a T C 13: 49,055,750 (GRCm39) Y646C probably damaging Het
Hltf T C 3: 20,146,968 (GRCm39) W576R probably damaging Het
Hmcn2 A G 2: 31,279,359 (GRCm39) N1787S probably benign Het
Ift122 A G 6: 115,897,313 (GRCm39) E904G probably benign Het
Igkv17-121 C T 6: 68,013,806 (GRCm39) T2I unknown Het
Ino80 T G 2: 119,269,874 (GRCm39) R590S possibly damaging Het
Intu T A 3: 40,652,069 (GRCm39) I842N probably damaging Het
Itgae A T 11: 73,024,913 (GRCm39) T1015S probably damaging Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kcna10 A G 3: 107,101,663 (GRCm39) E98G probably damaging Het
Kcnb2 T A 1: 15,780,837 (GRCm39) Y570N probably benign Het
Kmt2c T C 5: 25,564,676 (GRCm39) I923V probably benign Het
Kptn A G 7: 15,859,697 (GRCm39) D307G probably damaging Het
Myo3b T C 2: 70,083,458 (GRCm39) Y704H probably damaging Het
Or12d13 A G 17: 37,647,392 (GRCm39) F244L probably benign Het
Or4c100 T A 2: 88,356,014 (GRCm39) L29* probably null Het
Or4c58 A T 2: 89,674,611 (GRCm39) C235* probably null Het
Or4f59 T C 2: 111,872,523 (GRCm39) T285A possibly damaging Het
Pmel G A 10: 128,551,819 (GRCm39) V218M probably damaging Het
Prkar2b T C 12: 32,013,024 (GRCm39) H364R possibly damaging Het
Psd4 T C 2: 24,294,867 (GRCm39) F809S probably damaging Het
Rabgap1l A G 1: 160,078,838 (GRCm39) S59P Het
Rgr A G 14: 36,766,645 (GRCm39) F134L probably benign Het
Rspry1 G T 8: 95,349,753 (GRCm39) R47L probably damaging Het
Scd3 G T 19: 44,222,688 (GRCm39) E113* probably null Het
Slc22a12 G A 19: 6,586,938 (GRCm39) A476V possibly damaging Het
Smg1 T C 7: 117,792,878 (GRCm39) E560G unknown Het
Snx3 A G 10: 42,378,346 (GRCm39) D7G probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Tbc1d12 A G 19: 38,905,285 (GRCm39) M667V probably benign Het
Tbc1d30 A T 10: 121,142,104 (GRCm39) V81E probably damaging Het
Tbc1d9 A T 8: 83,966,583 (GRCm39) I395F probably damaging Het
Tes C A 6: 17,096,322 (GRCm39) N103K probably benign Het
Tet2 T C 3: 133,193,426 (GRCm39) Y336C possibly damaging Het
Tgfbr3 T C 5: 107,287,726 (GRCm39) N491S probably damaging Het
Tomt T C 7: 101,549,554 (GRCm39) I245V probably damaging Het
Trbc1 T C 6: 41,515,236 (GRCm39) L28P Het
Trp63 T C 16: 25,639,436 (GRCm39) V208A unknown Het
Ttll8 G T 15: 88,799,565 (GRCm39) N625K probably benign Het
Ush2a T A 1: 188,132,135 (GRCm39) W786R probably benign Het
Vmn2r97 A T 17: 19,167,854 (GRCm39) I703F probably damaging 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
IGL02934:Cachd1 APN 4 100,825,295 (GRCm39) missense probably damaging 0.98
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 4 100,821,632 (GRCm39) missense probably damaging 1.00
R1774:Cachd1 UTSW 4 100,824,240 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- CACCTGCTGGGAAGGTTTTG -3'
(R):5'- TGACTGCCCATTACTGTATGTG -3'

Sequencing Primer
(F):5'- TTCCCTGCGAGAGAACCTTG -3'
(R):5'- GCTTATCATGACTCTCTGGGCTTAG -3'
Posted On 2020-09-15