Incidental Mutation 'R4713:Hip1r'
ID 353358
Institutional Source Beutler Lab
Gene Symbol Hip1r
Ensembl Gene ENSMUSG00000000915
Gene Name huntingtin interacting protein 1 related
Synonyms
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 124111665-124141278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124128043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 116 (I116T)
Ref Sequence ENSEMBL: ENSMUSP00000127361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000939] [ENSMUST00000167879]
AlphaFold Q9JKY5
Predicted Effect probably benign
Transcript: ENSMUST00000000939
AA Change: I115T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: I115T

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: 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: ENSMUST00000167879
AA Change: I116T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000127361
Gene: ENSMUSG00000000915
AA Change: I116T

DomainStartEndE-ValueType
Pfam:ANTH 29 117 1.3e-29 PFAM
Pfam:ENTH 30 117 6.1e-10 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging 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
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
R9695:Hip1r UTSW 5 124,139,916 (GRCm39) missense possibly damaging 0.95
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'- GTATCCCATGGAAGTGTGCTGC -3'
(R):5'- GATCTTCACAGAGGCATGGG -3'

Sequencing Primer
(F):5'- CATGGAAGTGTGCTGCTCTGAC -3'
(R):5'- GTTGCCACCTGTTCCAAGTCAAG -3'
Posted On 2015-10-21