Incidental Mutation 'R8882:Hip1r'
ID 676970
Institutional Source Beutler Lab
Gene Symbol Hip1r
Ensembl Gene ENSMUSG00000000915
Gene Name huntingtin interacting protein 1 related
Synonyms
MMRRC Submission 068750-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8882 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 124111665-124141278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124140025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1043 (K1043E)
Ref Sequence ENSEMBL: ENSMUSP00000000939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000939] [ENSMUST00000040967]
AlphaFold Q9JKY5
Predicted Effect probably damaging
Transcript: ENSMUST00000000939
AA Change: K1043E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: K1043E

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: 99.5%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 A T 13: 111,392,033 (GRCm39) I123L probably benign Het
Adam18 T C 8: 25,136,438 (GRCm39) D361G probably benign Het
Adcyap1r1 G A 6: 55,468,219 (GRCm39) V352M possibly damaging Het
Ahnak T C 19: 8,978,106 (GRCm39) L75P probably damaging Het
Arhgap23 T C 11: 97,355,949 (GRCm39) S856P probably benign Het
Asprv1 G T 6: 86,605,349 (GRCm39) C65F probably benign Het
Atp2b4 A T 1: 133,654,193 (GRCm39) probably null Het
Cd55 A G 1: 130,387,501 (GRCm39) V99A probably benign Het
Cit G A 5: 116,001,089 (GRCm39) A163T probably benign Het
Dnah6 A T 6: 73,155,481 (GRCm39) D711E probably benign Het
Dnajc15 A T 14: 78,094,411 (GRCm39) V41E probably damaging Het
Dock2 GCACACACACA GCACACACACACA 11: 34,595,436 (GRCm39) 453 probably null Het
Dst T C 1: 34,240,005 (GRCm39) S1785P probably damaging Het
Efhb A G 17: 53,769,712 (GRCm39) V199A probably damaging Het
Esyt3 C T 9: 99,202,909 (GRCm39) G498D probably damaging Het
Fbxo11 A G 17: 88,304,957 (GRCm39) I562T Het
Fh1 C T 1: 175,437,353 (GRCm39) V249I possibly damaging Het
Gdpgp1 T C 7: 79,888,704 (GRCm39) I245T possibly damaging Het
Hinfp A G 9: 44,209,629 (GRCm39) probably null Het
Htt G A 5: 34,979,061 (GRCm39) V815I probably benign Het
Jrk A G 15: 74,579,004 (GRCm39) Y94H probably damaging Het
Krit1 T A 5: 3,886,864 (GRCm39) N704K possibly damaging Het
Mmp17 A G 5: 129,679,008 (GRCm39) D331G probably benign Het
Nlrp9a T A 7: 26,257,703 (GRCm39) Y440* probably null Het
Nphp3 A G 9: 103,882,793 (GRCm39) T216A possibly damaging Het
Or1e1f T G 11: 73,855,940 (GRCm39) C169G probably damaging Het
Or4a79 G T 2: 89,551,740 (GRCm39) C238* probably null Het
Or5ae2 T C 7: 84,505,681 (GRCm39) Y37H probably damaging Het
Or7e176 T C 9: 20,171,256 (GRCm39) F40S probably benign Het
Or8c15 T A 9: 38,120,461 (GRCm39) Y35* probably null Het
Parva T C 7: 112,027,211 (GRCm39) S14P probably benign Het
Pax6 A C 2: 105,521,963 (GRCm39) N207H possibly damaging Het
Pde6a A G 18: 61,378,619 (GRCm39) N314S Het
Phlpp1 T A 1: 106,320,372 (GRCm39) S1456T probably benign Het
Plxnc1 A G 10: 94,677,428 (GRCm39) V933A probably damaging Het
Rasgef1b A G 5: 99,524,860 (GRCm39) S100P probably benign Het
Rpn2 A G 2: 157,136,102 (GRCm39) H170R probably benign Het
Sbds A G 5: 130,282,778 (GRCm39) probably null Het
Scube2 G C 7: 109,451,680 (GRCm39) L158V probably damaging Het
Slc16a12 C A 19: 34,649,854 (GRCm39) V394L probably benign Het
Slc23a2 A T 2: 131,933,159 (GRCm39) Y100N possibly damaging Het
Slc30a9 G T 5: 67,473,044 (GRCm39) E43* probably null Het
Specc1l A T 10: 75,065,689 (GRCm39) M1L unknown Het
Sspo T A 6: 48,452,390 (GRCm39) C2785S probably damaging Het
Star T C 8: 26,302,897 (GRCm39) S280P probably benign Het
Strip1 A T 3: 107,534,341 (GRCm39) M127K probably benign Het
Tbx19 C T 1: 164,966,780 (GRCm39) V365M probably benign Het
Tex2 T C 11: 106,435,062 (GRCm39) D788G unknown Het
Tspyl1 A G 10: 34,158,494 (GRCm39) E73G possibly damaging Het
Ulk2 C T 11: 61,698,887 (GRCm39) probably null Het
Vmn2r120 A T 17: 57,852,229 (GRCm39) M29K probably benign Het
Vmn2r60 C A 7: 41,790,518 (GRCm39) Q502K probably benign Het
Xpo5 A G 17: 46,538,666 (GRCm39) D624G possibly damaging Het
Zfp119b T C 17: 56,246,923 (GRCm39) R88G possibly damaging Het
Zfp879 C A 11: 50,724,763 (GRCm39) E98* probably null 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
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'- CTCATGAGCAGTGCTGAGTTGG -3'
(R):5'- AGTTGAGCTGGGTAGACACC -3'

Sequencing Primer
(F):5'- CCTGCAGGTGCGAGTCTTG -3'
(R):5'- GGTAGACACCATCCTTTTTGTCGAG -3'
Posted On 2021-07-15