Incidental Mutation 'R4551:Hypk'
ID 333938
Institutional Source Beutler Lab
Gene Symbol Hypk
Ensembl Gene ENSMUSG00000027245
Gene Name huntingtin interacting protein K
Synonyms 2310003F16Rik
MMRRC Submission 041782-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R4551 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 121287569-121288921 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 121283961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000051261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056312] [ENSMUST00000099475] [ENSMUST00000110612] [ENSMUST00000110613] [ENSMUST00000110615] [ENSMUST00000126764] [ENSMUST00000139253] [ENSMUST00000154418] [ENSMUST00000148575]
AlphaFold Q9CR41
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028677
Predicted Effect probably null
Transcript: ENSMUST00000056312
SMART Domains Protein: ENSMUSP00000051261
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 33 488 3e-125 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: ENSMUST00000126678
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: ENSMUST00000127435
SMART Domains Protein: ENSMUSP00000119373
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 2 192 7.7e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131870
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: ENSMUST00000140135
SMART Domains Protein: ENSMUSP00000117054
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 1 75 8.2e-14 PFAM
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: ENSMUST00000154418
Predicted Effect probably benign
Transcript: ENSMUST00000148575
SMART Domains Protein: ENSMUSP00000121895
Gene: ENSMUSG00000074884

DomainStartEndE-ValueType
Pfam:4F5 1 38 2.9e-14 PFAM
Meta Mutation Damage Score 0.9497 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T G 11: 119,902,395 (GRCm39) E610A probably benign Het
Abhd17b T C 19: 21,658,290 (GRCm39) S176P possibly damaging Het
Adgrg7 A G 16: 56,568,375 (GRCm39) Y427H probably damaging Het
Alox15 T A 11: 70,235,422 (GRCm39) I647L probably benign Het
Ankhd1 C A 18: 36,788,560 (GRCm39) probably null Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
C4bp A G 1: 130,564,464 (GRCm39) Y407H possibly damaging Het
Cog6 T A 3: 52,905,741 (GRCm39) E96V probably damaging Het
Cox20 A C 1: 178,150,114 (GRCm39) N96T probably benign Het
Cpa3 T C 3: 20,273,934 (GRCm39) I351V probably benign Het
Cpd C T 11: 76,702,712 (GRCm39) G552D probably damaging Het
Cyld A G 8: 89,433,762 (GRCm39) K184E possibly damaging Het
Dab2 G A 15: 6,464,775 (GRCm39) G324D probably damaging Het
Depdc1a T A 3: 159,228,221 (GRCm39) D324E probably damaging Het
Dnah9 T C 11: 65,732,192 (GRCm39) E4238G probably damaging Het
Dync1i1 T A 6: 5,923,206 (GRCm39) D275E probably benign Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Farp2 T A 1: 93,546,314 (GRCm39) L868Q possibly damaging Het
Gpr45 A G 1: 43,071,950 (GRCm39) T198A probably benign Het
Grk2 C T 19: 4,336,084 (GRCm39) V402M possibly damaging Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Gtf2h3 A G 5: 124,728,482 (GRCm39) probably benign Het
Hus1b C A 13: 31,131,059 (GRCm39) S200I probably damaging Het
Ikbke T C 1: 131,185,770 (GRCm39) probably benign Het
Kat6b A G 14: 21,711,516 (GRCm39) E670G probably damaging Het
Kif26b T A 1: 178,711,600 (GRCm39) I740N probably damaging Het
Lhx3 G A 2: 26,091,202 (GRCm39) P369L probably damaging Het
Man2c1 T C 9: 57,038,445 (GRCm39) L35P probably damaging Het
Mical2 T A 7: 111,981,123 (GRCm39) S366T possibly damaging Het
Mroh9 A T 1: 162,871,662 (GRCm39) I607N probably damaging Het
Mybphl T C 3: 108,281,479 (GRCm39) I65T possibly damaging Het
Myo1g A G 11: 6,467,874 (GRCm39) I187T probably damaging Het
Myo7b T C 18: 32,118,161 (GRCm39) S822G probably benign Het
Nkx2-4 C A 2: 146,926,842 (GRCm39) A142S probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Odf4 C T 11: 68,812,866 (GRCm39) S264N probably benign Het
Or12k7 G T 2: 36,958,355 (GRCm39) V13L probably benign Het
Or13a17 A T 7: 140,271,655 (GRCm39) Y279F probably damaging Het
Or56b1 A T 7: 104,285,631 (GRCm39) H250L probably damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Parpbp T A 10: 87,929,564 (GRCm39) Q428L possibly damaging Het
Pcdhb16 T C 18: 37,612,887 (GRCm39) F616L probably damaging Het
Pdk3 A T X: 92,825,846 (GRCm39) M253K probably damaging Het
Pgap2 C A 7: 101,875,674 (GRCm39) probably benign Het
Pkhd1l1 C A 15: 44,414,281 (GRCm39) N2849K probably damaging Het
Pprc1 A G 19: 46,055,664 (GRCm39) probably benign Het
Psma2 A G 13: 14,791,430 (GRCm39) Y25C possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptpn5 C A 7: 46,740,600 (GRCm39) probably benign Het
Pxn G T 5: 115,690,779 (GRCm39) probably benign Het
Scd3 C A 19: 44,203,878 (GRCm39) A22E probably benign Het
Sdr42e1 T C 8: 118,390,347 (GRCm39) E98G probably benign Het
Slc14a2 A C 18: 78,239,068 (GRCm39) S184A probably benign Het
Tmem236 A T 2: 14,223,964 (GRCm39) Q251L probably benign Het
Trappc8 T C 18: 21,007,729 (GRCm39) T129A probably benign Het
Vmn1r90 A C 7: 14,295,894 (GRCm39) M68R possibly damaging Het
Vmn2r105 A G 17: 20,446,613 (GRCm39) V462A probably benign Het
Vmn2r7 T C 3: 64,598,110 (GRCm39) T816A possibly damaging Het
Vmn2r81 T A 10: 79,104,241 (GRCm39) I288K possibly damaging Het
Zfp180 A C 7: 23,803,998 (GRCm39) K139T possibly damaging Het
Zfp932 T C 5: 110,157,505 (GRCm39) V401A probably benign Het
Other mutations in Hypk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Hypk APN 2 121,287,776 (GRCm39) splice site probably null
IGL03309:Hypk APN 2 121,288,674 (GRCm39) missense probably damaging 1.00
IGL03309:Hypk APN 2 121,288,673 (GRCm39) nonsense probably null
R2230:Hypk UTSW 2 121,287,773 (GRCm39) critical splice donor site probably null
R3923:Hypk UTSW 2 121,288,683 (GRCm39) missense possibly damaging 0.65
R4060:Hypk UTSW 2 121,284,160 (GRCm39) intron probably benign
R4438:Hypk UTSW 2 121,288,475 (GRCm39) missense probably damaging 0.98
R4791:Hypk UTSW 2 121,288,136 (GRCm39) splice site probably null
R5075:Hypk UTSW 2 121,286,111 (GRCm39) utr 3 prime probably benign
R7133:Hypk UTSW 2 121,283,961 (GRCm39) critical splice donor site probably null
R7274:Hypk UTSW 2 121,284,805 (GRCm39) intron probably benign
R8130:Hypk UTSW 2 121,286,859 (GRCm39) utr 3 prime probably benign
R9136:Hypk UTSW 2 121,287,636 (GRCm39) nonsense probably null
R9203:Hypk UTSW 2 121,288,163 (GRCm39) nonsense probably null
R9610:Hypk UTSW 2 121,288,154 (GRCm39) missense probably damaging 1.00
R9611:Hypk UTSW 2 121,288,154 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCAGAGGCCCCTAAAGTC -3'
(R):5'- AATACCCAGCTTTGTTCATAACCC -3'

Sequencing Primer
(F):5'- AGAGGCCCCTAAAGTCTGTGC -3'
(R):5'- CAGCTTTGTTCATAACCCTGTTC -3'
Posted On 2015-08-18