Incidental Mutation 'R5905:Cachd1'
ID 456495
Institutional Source Beutler Lab
Gene Symbol Cachd1
Ensembl Gene ENSMUSG00000028532
Gene Name cache domain containing 1
Synonyms Vwcd1, 1190007F10Rik, B430218L07Rik
MMRRC Submission 044102-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.258) question?
Stock # R5905 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 100633870-100861741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100840753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 905 (N905K)
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: N905K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: N905K

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: N905K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: N905K

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
Meta Mutation Damage Score 0.4091 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T A 3: 36,533,718 (GRCm39) probably null Het
Acat1 A T 9: 53,503,366 (GRCm39) Y158N probably damaging Het
Adamtsl1 C A 4: 86,260,561 (GRCm39) A924E probably damaging Het
Alad G T 4: 62,428,359 (GRCm39) T305K probably benign Het
Als2cl G T 9: 110,727,152 (GRCm39) R906L probably damaging Het
Ap3d1 T C 10: 80,558,761 (GRCm39) N281S possibly damaging Het
Arf4 A G 14: 26,375,079 (GRCm39) T113A probably benign Het
Asah2 T C 19: 31,993,914 (GRCm39) D438G probably damaging Het
Catsperb T A 12: 101,568,959 (GRCm39) M877K possibly damaging Het
Cc2d2a A T 5: 43,869,768 (GRCm39) M890L probably benign Het
Cd180 A T 13: 102,842,541 (GRCm39) H529L possibly damaging Het
Cdh23 G T 10: 60,370,314 (GRCm39) D160E probably damaging Het
Chd7 C A 4: 8,840,553 (GRCm39) N1440K possibly damaging Het
Cntln T A 4: 84,889,410 (GRCm39) S298T probably benign Het
Cplx3 A G 9: 57,515,546 (GRCm39) I443T probably damaging Het
Dmap1 G T 4: 117,533,963 (GRCm39) T132K probably benign Het
Dnah11 C T 12: 117,918,659 (GRCm39) G3424E probably damaging Het
Dnah5 T A 15: 28,387,979 (GRCm39) M3146K probably damaging Het
Egfr A T 11: 16,861,494 (GRCm39) E1091V probably damaging Het
Eps8l2 T C 7: 140,937,746 (GRCm39) F422S possibly damaging Het
F2r A G 13: 95,741,121 (GRCm39) V138A possibly damaging Het
Faf1 T A 4: 109,748,126 (GRCm39) M477K probably benign Het
Fam149b C T 14: 20,409,978 (GRCm39) T235M probably benign Het
Fan1 C A 7: 64,003,399 (GRCm39) A808S probably benign Het
Fbxl20 A G 11: 98,006,271 (GRCm39) I38T probably damaging Het
Fnbp4 C A 2: 90,581,478 (GRCm39) T177K probably benign Het
Gm9747 T C 1: 82,212,019 (GRCm39) probably benign Het
Grip1 A G 10: 119,821,397 (GRCm39) D354G probably benign Het
Grk4 A C 5: 34,869,074 (GRCm39) Y189S probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hgfac A G 5: 35,199,706 (GRCm39) N63D probably benign Het
Hk1 C A 10: 62,188,837 (GRCm39) K25N probably null Het
Hrc G A 7: 44,985,658 (GRCm39) G270S probably damaging Het
Inhba T A 13: 16,191,893 (GRCm39) W5R probably benign Het
Lipm T C 19: 34,089,311 (GRCm39) S90P probably benign Het
Lmod3 T A 6: 97,224,575 (GRCm39) E415D probably damaging Het
Lrrc37 A T 11: 103,505,081 (GRCm39) S2296T probably damaging Het
Lrrc63 A G 14: 75,323,614 (GRCm39) S537P possibly damaging Het
Map9 T A 3: 82,287,555 (GRCm39) probably null Het
Marf1 T A 16: 13,945,113 (GRCm39) Q1252L probably damaging Het
Mc3r A T 2: 172,091,129 (GRCm39) D117V probably damaging Het
Mepce A G 5: 137,782,982 (GRCm39) V448A possibly damaging Het
Mical1 A T 10: 41,362,873 (GRCm39) M973L probably benign Het
Mmp21 T C 7: 133,280,443 (GRCm39) T176A probably benign Het
Nacc2 A G 2: 25,951,590 (GRCm39) V415A probably damaging Het
Neb G A 2: 52,083,243 (GRCm39) T1639I probably damaging Het
Nfia A G 4: 97,999,488 (GRCm39) H485R possibly damaging Het
Nlrp9a C T 7: 26,257,762 (GRCm39) T460I probably benign Het
Or10p21 A T 10: 128,847,156 (GRCm39) M1L probably benign Het
Or52z15 T A 7: 103,332,781 (GRCm39) N285K probably damaging Het
Or56b35 T C 7: 104,964,158 (GRCm39) Y316H probably benign Het
Or8g24 T A 9: 38,989,379 (GRCm39) I221F probably damaging Het
Or8k32 T A 2: 86,369,113 (GRCm39) I49F possibly damaging Het
Or9s13 T A 1: 92,547,864 (GRCm39) C79S possibly damaging Het
Otoa T A 7: 120,693,824 (GRCm39) L68Q probably damaging Het
Pclo A T 5: 14,730,399 (GRCm39) probably benign Het
Pcsk2 T A 2: 143,591,060 (GRCm39) Y186N probably damaging Het
Pigz A G 16: 31,764,246 (GRCm39) T435A probably benign Het
Pja2 T C 17: 64,616,085 (GRCm39) D270G probably benign Het
Polb G T 8: 23,130,011 (GRCm39) S187* probably null Het
Popdc3 A G 10: 45,194,015 (GRCm39) D272G probably benign Het
Prr5 A T 15: 84,626,178 (GRCm39) K84N possibly damaging Het
Prss36 T C 7: 127,532,744 (GRCm39) D716G probably benign Het
Rapgef5 T A 12: 117,712,161 (GRCm39) D547E probably damaging Het
Slc4a11 T A 2: 130,526,972 (GRCm39) I719F probably damaging Het
Smpd2 A G 10: 41,365,344 (GRCm39) W51R probably damaging Het
Snrpb T A 2: 130,021,196 (GRCm39) probably benign Het
Sox9 A G 11: 112,674,646 (GRCm39) E148G probably damaging Het
Strbp G A 2: 37,515,267 (GRCm39) T253I probably damaging Het
Sult1d1 A T 5: 87,707,685 (GRCm39) M145K probably damaging Het
Syt17 T C 7: 118,036,141 (GRCm39) D74G probably benign Het
Taf5l A C 8: 124,729,714 (GRCm39) probably null Het
Tas2r131 T G 6: 132,934,639 (GRCm39) I57L probably benign Het
Tcf25 A G 8: 124,108,176 (GRCm39) N77S possibly damaging Het
Tmem253 A G 14: 52,255,268 (GRCm39) T57A possibly damaging Het
Trrap A G 5: 144,786,730 (GRCm39) K3170R possibly damaging Het
Tspan17 A G 13: 54,941,111 (GRCm39) N130S probably damaging Het
Vmn1r216 C T 13: 23,283,367 (GRCm39) L17F probably damaging Het
Vmn2r3 T A 3: 64,182,698 (GRCm39) T334S probably benign Het
Wnk2 G T 13: 49,229,821 (GRCm39) A901E probably damaging Het
Zc3hav1 T C 6: 38,284,275 (GRCm39) T947A probably benign Het
Zfhx3 C T 8: 109,520,135 (GRCm39) P419L probably damaging Het
Zfp292 A G 4: 34,819,549 (GRCm39) S258P probably damaging Het
Zfp354c T C 11: 50,706,253 (GRCm39) Y274C probably damaging Het
Zfp652 G A 11: 95,640,689 (GRCm39) A205T probably benign Het
Zfp964 A G 8: 70,116,563 (GRCm39) T388A unknown 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
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
Predicted Primers PCR Primer
(F):5'- CTCTGGAGCAGCAACACATTAC -3'
(R):5'- ACCCTGTGACCTTCAGACAG -3'

Sequencing Primer
(F):5'- GCAGCAACACATTACCCACAAGG -3'
(R):5'- GTGACCTTCAGACAGTCCCTGTG -3'
Posted On 2017-02-15