Incidental Mutation 'R5075:Hypk'
ID386911
Institutional Source Beutler Lab
Gene Symbol Hypk
Ensembl Gene ENSMUSG00000027245
Gene Namehuntingtin interacting protein K
Synonyms2310003F16Rik
MMRRC Submission 042664-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.867) question?
Stock #R5075 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location121453290-121458672 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to G at 121455630 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056312] [ENSMUST00000056732] [ENSMUST00000099475] [ENSMUST00000110612] [ENSMUST00000110613] [ENSMUST00000110615] [ENSMUST00000126764] [ENSMUST00000139253] [ENSMUST00000148575] [ENSMUST00000154418]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028677
Predicted Effect probably benign
Transcript: ENSMUST00000056312
SMART Domains Protein: ENSMUSP00000051261
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 33 488 3e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056732
SMART Domains Protein: ENSMUSP00000049548
Gene: ENSMUSG00000048222

DomainStartEndE-ValueType
low complexity region 51 59 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
coiled coil region 134 150 N/A INTRINSIC
Pfam:MFAP1 190 399 1.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099475
SMART Domains Protein: ENSMUSP00000097074
Gene: ENSMUSG00000074884

DomainStartEndE-ValueType
Pfam:4F5 1 38 3.1e-14 PFAM
low complexity region 49 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110612
SMART Domains Protein: ENSMUSP00000106242
Gene: ENSMUSG00000027245

DomainStartEndE-ValueType
coiled coil region 69 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110613
SMART Domains Protein: ENSMUSP00000106243
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 34 280 5.6e-67 PFAM
low complexity region 342 364 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126678
Predicted Effect probably benign
Transcript: ENSMUST00000126764
SMART Domains Protein: ENSMUSP00000117946
Gene: ENSMUSG00000027245

DomainStartEndE-ValueType
coiled coil region 69 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127435
SMART Domains Protein: ENSMUSP00000119373
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 2 192 7.7e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134412
Predicted Effect probably benign
Transcript: ENSMUST00000139253
SMART Domains Protein: ENSMUSP00000123181
Gene: ENSMUSG00000074884

DomainStartEndE-ValueType
Pfam:4F5 1 38 1e-14 PFAM
low complexity region 45 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140135
SMART Domains Protein: ENSMUSP00000117054
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 1 75 8.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140752
SMART Domains Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 2 78 7.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148575
SMART Domains Protein: ENSMUSP00000121895
Gene: ENSMUSG00000074884

DomainStartEndE-ValueType
Pfam:4F5 1 38 2.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154418
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,683,052 K1016E probably damaging Het
Agl A G 3: 116,793,807 F33S probably damaging Het
Atf7ip A G 6: 136,560,234 D163G probably benign Het
Cep85 C A 4: 134,132,367 D662Y probably damaging Het
Cntn6 T A 6: 104,833,030 S558T probably damaging Het
Dnah8 T C 17: 30,739,757 probably null Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Dnah8 T A 17: 30,800,531 N3859K probably damaging Het
Dnajc21 G T 15: 10,461,877 T146K probably benign Het
Ep400 T C 5: 110,685,485 E1957G unknown Het
Esm1 A G 13: 113,213,358 Y104C probably damaging Het
Fkbp15 T C 4: 62,321,029 K613R probably damaging Het
Gm10722 A C 9: 3,001,041 Y39S probably benign Het
Gm5592 A G 7: 41,158,963 probably benign Het
Hdac4 A G 1: 91,996,120 S223P probably benign Het
Kpna1 T A 16: 36,009,352 F70I probably damaging Het
Lrp2 A G 2: 69,465,758 Y3336H probably benign Het
Mettl7b A G 10: 128,960,680 F87L probably damaging Het
Mier1 A G 4: 103,139,473 D99G probably benign Het
Muc4 T C 16: 32,754,794 probably benign Het
Nup160 A G 2: 90,700,174 E463G probably damaging Het
Olfr1480 T A 19: 13,530,273 M244K probably benign Het
Peg3 A T 7: 6,708,420 C1268S probably damaging Het
Recql4 G A 15: 76,709,544 P122L probably damaging Het
Rex2 A T 4: 147,057,694 Q213L possibly damaging Het
Rnf25 A G 1: 74,595,644 V73A probably benign Het
Sacm1l A G 9: 123,582,262 D372G probably benign Het
Selplg T C 5: 113,819,984 D87G probably benign Het
Sgsh G A 11: 119,346,768 T340M probably benign Het
Slc4a3 A T 1: 75,557,368 I1120F probably damaging Het
Snrnp40 T C 4: 130,388,582 Y311H probably benign Het
Stard7 A T 2: 127,269,959 probably benign Het
Stat1 A T 1: 52,122,712 K40M possibly damaging Het
Sun1 T C 5: 139,226,891 probably null Het
Tet2 T A 3: 133,486,906 Q589L probably benign Het
Tmc7 A T 7: 118,552,696 probably null Het
Unc79 A T 12: 103,074,954 I749F possibly damaging Het
Ust A G 10: 8,518,224 F59S probably damaging Het
Wdr81 A T 11: 75,452,481 D653E probably benign Het
Zfat A G 15: 68,180,230 S572P probably benign Het
Zmynd15 G C 11: 70,462,120 E143D probably damaging Het
Zzef1 A G 11: 72,858,344 E886G probably damaging Het
Other mutations in Hypk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Hypk APN 2 121457295 splice site probably null
IGL03309:Hypk APN 2 121458192 nonsense probably null
IGL03309:Hypk APN 2 121458193 missense probably damaging 1.00
R2230:Hypk UTSW 2 121457292 critical splice donor site probably null
R3923:Hypk UTSW 2 121458202 missense possibly damaging 0.65
R4060:Hypk UTSW 2 121453679 intron probably benign
R4438:Hypk UTSW 2 121457994 missense probably damaging 0.98
R4551:Hypk UTSW 2 121453480 critical splice donor site probably null
R4791:Hypk UTSW 2 121457655 unclassified probably null
R7133:Hypk UTSW 2 121453480 critical splice donor site probably null
R7274:Hypk UTSW 2 121454324 intron probably benign
Predicted Primers
Posted On2016-06-06