Incidental Mutation 'R0172:Hip1r'
ID 24269
Institutional Source Beutler Lab
Gene Symbol Hip1r
Ensembl Gene ENSMUSG00000000915
Gene Name huntingtin interacting protein 1 related
Synonyms
MMRRC Submission 038444-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0172 (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 A at 124135003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 380 (Y380N)
Ref Sequence ENSEMBL: ENSMUSP00000000939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000939]
AlphaFold Q9JKY5
Predicted Effect possibly damaging
Transcript: ENSMUST00000000939
AA Change: Y380N

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: Y380N

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 noncoding transcript
Transcript: ENSMUST00000166684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185154
Predicted Effect probably benign
Transcript: ENSMUST00000198664
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 82% (40/49)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,645,578 (GRCm39) C488S probably damaging Het
Abca12 T G 1: 71,318,561 (GRCm39) D1814A probably damaging Het
Acp7 T C 7: 28,314,549 (GRCm39) N272S possibly damaging Het
Ank3 T C 10: 69,811,888 (GRCm39) V1145A probably damaging Het
Ap1m2 A T 9: 21,209,628 (GRCm39) probably null Het
Atp12a T C 14: 56,610,301 (GRCm39) V224A probably damaging Het
Cdh23 T C 10: 60,155,411 (GRCm39) E2253G probably damaging Het
Cep350 T C 1: 155,829,193 (GRCm39) N237S probably benign Het
Crispld2 T C 8: 120,752,810 (GRCm39) V286A possibly damaging Het
Cyp2c65 G T 19: 39,076,100 (GRCm39) V351L possibly damaging Het
D130043K22Rik T C 13: 25,056,389 (GRCm39) F574L probably benign Het
Dag1 G A 9: 108,086,031 (GRCm39) T370M possibly damaging Het
Dmwd C T 7: 18,814,267 (GRCm39) R306C probably damaging Het
Dnah11 T C 12: 117,951,188 (GRCm39) Y3040C probably damaging Het
Dst C A 1: 34,309,935 (GRCm39) H1536Q probably damaging Het
Eif3j1 A G 2: 121,882,246 (GRCm39) I202V probably benign Het
Epg5 T A 18: 78,070,574 (GRCm39) V2283D probably benign Het
Evi5 T C 5: 107,938,328 (GRCm39) N625S probably benign Het
Exosc10 T C 4: 148,649,814 (GRCm39) S415P probably benign Het
F830016B08Rik G T 18: 60,433,036 (GRCm39) D40Y possibly damaging Het
Fam118a A G 15: 84,929,951 (GRCm39) I60V probably benign Het
Fam186a A T 15: 99,852,768 (GRCm39) M150K unknown Het
Fam193a C T 5: 34,622,957 (GRCm39) R1182W probably damaging Het
Fastkd2 T A 1: 63,771,187 (GRCm39) I181K possibly damaging Het
Hivep2 C A 10: 14,015,218 (GRCm39) P1795Q probably damaging Het
Hnrnpab T C 11: 51,493,494 (GRCm39) E238G probably damaging Het
Kcnma1 C T 14: 23,853,234 (GRCm39) A172T probably damaging Het
Lipg G T 18: 75,081,245 (GRCm39) H279N possibly damaging Het
Lrrc9 A G 12: 72,510,260 (GRCm39) D453G possibly damaging Het
Map1s T A 8: 71,367,612 (GRCm39) M839K probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myo1h T A 5: 114,467,225 (GRCm39) probably null Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nrn1 T C 13: 36,914,544 (GRCm39) R19G probably benign Het
Nwd2 T C 5: 63,963,712 (GRCm39) Y1099H probably benign Het
Nxpe2 G A 9: 48,231,209 (GRCm39) R387C possibly damaging Het
Or2a25 T C 6: 42,888,913 (GRCm39) V152A probably benign Het
Pappa2 C T 1: 158,682,419 (GRCm39) probably null Het
Pcdhb13 A T 18: 37,575,990 (GRCm39) I123L probably benign Het
Plcg2 A G 8: 118,306,521 (GRCm39) T292A probably benign Het
Pnpla8 T A 12: 44,358,111 (GRCm39) V469D probably damaging Het
Pop4 T C 7: 37,962,679 (GRCm39) Y195C probably damaging Het
Rbsn A T 6: 92,188,588 (GRCm39) D42E probably damaging Het
Sclt1 A T 3: 41,672,222 (GRCm39) I123N possibly damaging Het
Slc22a27 C A 19: 7,843,201 (GRCm39) G393* probably null Het
Smu1 C T 4: 40,738,439 (GRCm39) V432I probably benign Het
Sohlh1 A G 2: 25,736,215 (GRCm39) probably null Het
Spta1 T A 1: 174,058,352 (GRCm39) I1940K probably damaging Het
Sufu G T 19: 46,385,563 (GRCm39) V8F possibly damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem184b A G 15: 79,262,740 (GRCm39) V39A possibly damaging Het
Tmem236 A G 2: 14,223,694 (GRCm39) D161G probably benign Het
Ufl1 T C 4: 25,280,685 (GRCm39) K54R probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T 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
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
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'- CCCAATGGCTCCATGAAGGATGAC -3'
(R):5'- TTCCTCTCGAAGGCCCTGGTTG -3'

Sequencing Primer
(F):5'- ACTGCTAGTGACATCTGAGATCC -3'
(R):5'- TTGTCCACCAGGGCCTT -3'
Posted On 2013-04-16