Incidental Mutation 'R9695:Hip1r'
ID 729212
Institutional Source Beutler Lab
Gene Symbol Hip1r
Ensembl Gene ENSMUSG00000000915
Gene Name huntingtin interacting protein 1 related
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9695 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 124111665-124141278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124139916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 1006 (K1006N)
Ref Sequence ENSEMBL: ENSMUSP00000000939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000939] [ENSMUST00000040967]
AlphaFold Q9JKY5
Predicted Effect possibly damaging
Transcript: ENSMUST00000000939
AA Change: K1006N

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: K1006N

DomainStartEndE-ValueType
ENTH 29 151 5.27e-40 SMART
low complexity region 301 321 N/A INTRINSIC
PDB:3I00|B 340 458 1e-21 PDB
Pfam:HIP1_clath_bdg 461 559 1.1e-34 PFAM
low complexity region 627 633 N/A INTRINSIC
ILWEQ 814 1012 9.19e-121 SMART
low complexity region 1016 1035 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040967
SMART Domains Protein: ENSMUSP00000047980
Gene: ENSMUSG00000066278

DomainStartEndE-ValueType
Pfam:Mod_r 11 156 3.9e-40 PFAM
low complexity region 170 188 N/A INTRINSIC
low complexity region 200 215 N/A INTRINSIC
low complexity region 262 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166258
SMART Domains Protein: ENSMUSP00000130766
Gene: ENSMUSG00000000915

DomainStartEndE-ValueType
Pfam:ANTH 1 79 3.5e-19 PFAM
low complexity region 80 100 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198664
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,170,739 (GRCm39) T1A Het
Adgrl1 G A 8: 84,665,060 (GRCm39) R1249Q probably damaging Het
Apeh G A 9: 107,963,483 (GRCm39) R580C probably damaging Het
Armc12 T A 17: 28,749,993 (GRCm39) C46S probably benign Het
Avpr1a C T 10: 122,284,845 (GRCm39) R46C probably damaging Het
Cbln4 C G 2: 171,879,469 (GRCm39) G140R probably damaging Het
Ccdc89 A G 7: 90,076,552 (GRCm39) N254S probably benign Het
Cd96 T A 16: 45,919,410 (GRCm39) I204F probably damaging Het
Cel G T 2: 28,450,961 (GRCm39) L101I probably damaging Het
Crtap A T 9: 114,215,378 (GRCm39) Y170* probably null Het
Ctxn3 A G 18: 57,610,185 (GRCm39) M1V probably null Het
Cwf19l1 G T 19: 44,101,425 (GRCm39) H478N probably damaging Het
Dpysl3 A T 18: 43,571,192 (GRCm39) D27E probably damaging Het
Dsg1b A G 18: 20,532,389 (GRCm39) T478A probably damaging Het
Dvl2 G A 11: 69,899,976 (GRCm39) R590Q possibly damaging Het
Elovl7 C A 13: 108,416,242 (GRCm39) Q211K probably damaging Het
Fech A G 18: 64,600,803 (GRCm39) I233T probably damaging Het
Fsip2 A T 2: 82,806,226 (GRCm39) Q848H probably benign Het
Gna15 A G 10: 81,359,752 (GRCm39) C13R probably damaging Het
Gstt4 A T 10: 75,657,072 (GRCm39) S65T probably benign Het
Heatr1 T C 13: 12,438,624 (GRCm39) V1353A probably damaging Het
Hspg2 T A 4: 137,265,701 (GRCm39) V1804E probably damaging Het
Ifi206 T C 1: 173,301,249 (GRCm39) T810A unknown Het
Ighv1-69 T C 12: 115,586,987 (GRCm39) T49A probably benign Het
Il4i1 A T 7: 44,489,033 (GRCm39) D266V probably damaging Het
Itga3 A T 11: 94,946,520 (GRCm39) probably null Het
Itpr1 A G 6: 108,378,311 (GRCm39) N1279S probably damaging Het
Madd T C 2: 90,992,929 (GRCm39) T997A probably benign Het
Mal C T 2: 127,482,308 (GRCm39) V32I probably benign Het
Map9 T A 3: 82,284,292 (GRCm39) S289T probably benign Het
Mmp15 G T 8: 96,097,414 (GRCm39) R461L possibly damaging Het
Nelfcd T A 2: 174,266,923 (GRCm39) I395N probably benign Het
Neurog2 T A 3: 127,427,694 (GRCm39) V106E probably damaging Het
Nup160 T A 2: 90,538,486 (GRCm39) N761K probably damaging Het
Oasl1 G A 5: 115,074,054 (GRCm39) R321Q probably damaging Het
Oosp2 T C 19: 11,628,994 (GRCm39) T36A Het
Or2a52 A T 6: 43,144,510 (GRCm39) I173L probably benign Het
Or7g22 A G 9: 19,049,171 (GRCm39) N294S probably damaging Het
Or8k30 T C 2: 86,339,100 (GRCm39) V99A probably benign Het
Or9s27 A G 1: 92,516,595 (GRCm39) D181G probably benign Het
Otx2 T G 14: 48,899,952 (GRCm39) S16R probably damaging Het
Phactr2 A G 10: 13,349,908 (GRCm39) S39P unknown Het
Piwil2 A G 14: 70,627,349 (GRCm39) Y797H possibly damaging Het
Plxna4 T G 6: 32,183,056 (GRCm39) Y949S probably benign Het
Prss35 A G 9: 86,637,761 (GRCm39) Y177C probably damaging Het
Rbm19 T C 5: 120,335,986 (GRCm39) I934T probably damaging Het
Rictor T G 15: 6,816,010 (GRCm39) V1094G probably benign Het
Riok1 A G 13: 38,242,676 (GRCm39) T467A possibly damaging Het
Slc15a4 G A 5: 127,694,400 (GRCm39) R12W possibly damaging Het
Slc44a5 T A 3: 153,956,588 (GRCm39) I280K probably damaging Het
Slc9c1 T C 16: 45,368,026 (GRCm39) L205S probably benign Het
Slco2a1 A G 9: 102,962,139 (GRCm39) R604G possibly damaging Het
Slmap T A 14: 26,183,496 (GRCm39) T296S probably damaging Het
Snrk T C 9: 121,995,640 (GRCm39) V473A probably benign Het
Spart A G 3: 55,033,955 (GRCm39) T394A probably benign Het
Stil T C 4: 114,881,378 (GRCm39) S641P probably damaging Het
Syne1 A G 10: 5,268,461 (GRCm39) V2076A probably benign Het
Tcirg1 G A 19: 3,952,360 (GRCm39) A336V probably null Het
Tespa1 T C 10: 130,198,285 (GRCm39) S436P probably benign Het
Thumpd3 G T 6: 113,024,622 (GRCm39) R72L possibly damaging Het
Tmem70 A C 1: 16,735,659 (GRCm39) E43A probably benign Het
Vars1 A G 17: 35,231,564 (GRCm39) D696G possibly damaging Het
Vwa5b2 A T 16: 20,422,975 (GRCm39) H991L probably benign Het
Zfp160 A G 17: 21,245,746 (GRCm39) K99E possibly damaging Het
Zfp759 G A 13: 67,287,198 (GRCm39) V250I possibly damaging Het
Zmym6 T C 4: 127,016,340 (GRCm39) V707A probably benign Het
Other mutations in Hip1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Hip1r APN 5 124,127,798 (GRCm39) critical splice donor site probably null
IGL01771:Hip1r APN 5 124,137,606 (GRCm39) missense possibly damaging 0.95
IGL01804:Hip1r APN 5 124,139,613 (GRCm39) critical splice donor site probably null
IGL02100:Hip1r APN 5 124,137,006 (GRCm39) unclassified probably benign
IGL02139:Hip1r APN 5 124,134,307 (GRCm39) missense probably damaging 1.00
IGL02321:Hip1r APN 5 124,137,953 (GRCm39) missense probably damaging 0.99
IGL02562:Hip1r APN 5 124,129,586 (GRCm39) unclassified probably benign
IGL02745:Hip1r APN 5 124,129,002 (GRCm39) splice site probably null
IGL02798:Hip1r APN 5 124,132,775 (GRCm39) unclassified probably benign
IGL03365:Hip1r APN 5 124,138,230 (GRCm39) missense probably damaging 1.00
R0172:Hip1r UTSW 5 124,135,003 (GRCm39) missense possibly damaging 0.47
R0546:Hip1r UTSW 5 124,137,114 (GRCm39) missense possibly damaging 0.89
R0799:Hip1r UTSW 5 124,135,004 (GRCm39) missense probably benign 0.00
R1588:Hip1r UTSW 5 124,134,638 (GRCm39) missense probably damaging 0.98
R1590:Hip1r UTSW 5 124,140,203 (GRCm39) missense probably benign 0.00
R1675:Hip1r UTSW 5 124,132,883 (GRCm39) missense probably damaging 1.00
R1801:Hip1r UTSW 5 124,136,871 (GRCm39) missense probably benign
R1818:Hip1r UTSW 5 124,134,018 (GRCm39) critical splice donor site probably null
R1852:Hip1r UTSW 5 124,129,568 (GRCm39) missense probably benign 0.10
R1936:Hip1r UTSW 5 124,134,134 (GRCm39) missense probably damaging 1.00
R1954:Hip1r UTSW 5 124,139,907 (GRCm39) missense probably damaging 0.96
R1989:Hip1r UTSW 5 124,127,761 (GRCm39) missense probably damaging 1.00
R2045:Hip1r UTSW 5 124,138,794 (GRCm39) missense probably benign
R2105:Hip1r UTSW 5 124,138,267 (GRCm39) missense probably damaging 0.96
R2414:Hip1r UTSW 5 124,139,306 (GRCm39) missense probably damaging 1.00
R2909:Hip1r UTSW 5 124,138,656 (GRCm39) splice site probably null
R3125:Hip1r UTSW 5 124,138,204 (GRCm39) missense probably benign 0.20
R3401:Hip1r UTSW 5 124,135,046 (GRCm39) missense probably damaging 1.00
R3402:Hip1r UTSW 5 124,135,046 (GRCm39) missense probably damaging 1.00
R3889:Hip1r UTSW 5 124,139,854 (GRCm39) nonsense probably null
R4212:Hip1r UTSW 5 124,137,953 (GRCm39) missense probably benign 0.06
R4421:Hip1r UTSW 5 124,135,925 (GRCm39) missense possibly damaging 0.66
R4422:Hip1r UTSW 5 124,135,069 (GRCm39) missense possibly damaging 0.93
R4713:Hip1r UTSW 5 124,128,043 (GRCm39) missense probably benign 0.02
R6837:Hip1r UTSW 5 124,136,928 (GRCm39) missense possibly damaging 0.63
R7171:Hip1r UTSW 5 124,134,007 (GRCm39) missense probably benign 0.02
R7212:Hip1r UTSW 5 124,111,845 (GRCm39) missense possibly damaging 0.91
R7251:Hip1r UTSW 5 124,132,813 (GRCm39) missense probably damaging 1.00
R7319:Hip1r UTSW 5 124,137,174 (GRCm39) missense probably damaging 1.00
R7432:Hip1r UTSW 5 124,129,829 (GRCm39) missense probably benign 0.05
R7592:Hip1r UTSW 5 124,136,036 (GRCm39) missense probably benign 0.21
R7708:Hip1r UTSW 5 124,135,532 (GRCm39) missense possibly damaging 0.82
R7773:Hip1r UTSW 5 124,139,504 (GRCm39) missense probably benign 0.00
R8132:Hip1r UTSW 5 124,135,290 (GRCm39) missense probably damaging 1.00
R8804:Hip1r UTSW 5 124,139,575 (GRCm39) missense possibly damaging 0.70
R8882:Hip1r UTSW 5 124,140,025 (GRCm39) missense probably damaging 1.00
R9643:Hip1r UTSW 5 124,139,319 (GRCm39) missense probably damaging 1.00
R9650:Hip1r UTSW 5 124,135,357 (GRCm39) critical splice donor site probably null
Z1088:Hip1r UTSW 5 124,137,195 (GRCm39) splice site probably null
Z1176:Hip1r UTSW 5 124,135,073 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTGTCCCTCATCAAGTTG -3'
(R):5'- ATGTATAATCCGAGGGTAGCCC -3'

Sequencing Primer
(F):5'- CTGTCCCTCATCAAGTTGAAGAAG -3'
(R):5'- ACCCCTGGCAAGCTCTC -3'
Posted On 2022-10-06