Incidental Mutation 'R8175:Eipr1'
ID 634303
Institutional Source Beutler Lab
Gene Symbol Eipr1
Ensembl Gene ENSMUSG00000036613
Gene Name EARP complex and GARP complex interacting protein 1
Synonyms D12Ertd604e, Tssc1
MMRRC Submission 067600-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8175 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 28801802-28917493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28913106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 269 (E269G)
Ref Sequence ENSEMBL: ENSMUSP00000038845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035657]
AlphaFold Q8K0G5
Predicted Effect
SMART Domains Protein: ENSMUSP00000038845
Gene: ENSMUSG00000036613
AA Change: E269G

DomainStartEndE-ValueType
low complexity region 43 56 N/A INTRINSIC
Blast:WD40 57 100 1e-18 BLAST
WD40 122 163 6.39e0 SMART
WD40 172 213 2.29e1 SMART
WD40 216 257 6.38e-7 SMART
WD40 261 301 4.38e-5 SMART
WD40 335 375 1.2e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 C T 9: 30,815,952 (GRCm39) V635M probably damaging Het
Aim2 A T 1: 173,282,920 (GRCm39) M1L possibly damaging Het
Ank3 T C 10: 69,729,339 (GRCm39) V700A unknown Het
Arhgap10 T C 8: 78,037,471 (GRCm39) T586A probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef4 G A 1: 34,849,455 (GRCm39) V349I probably benign Het
Atp1a1 A G 3: 101,492,170 (GRCm39) F569L possibly damaging Het
Btbd10 T A 7: 112,921,999 (GRCm39) probably null Het
Capza2 G A 6: 17,665,381 (GRCm39) D270N probably benign Het
Cobll1 T C 2: 64,929,575 (GRCm39) N584D probably benign Het
Coro1c T A 5: 113,988,876 (GRCm39) I156F probably benign Het
Cpsf3 T C 12: 21,350,178 (GRCm39) I299T probably benign Het
Cse1l T A 2: 166,785,128 (GRCm39) probably null Het
D5Ertd579e T C 5: 36,772,814 (GRCm39) E527G probably damaging Het
Dcbld2 T C 16: 58,253,710 (GRCm39) L149S possibly damaging Het
Ecpas C T 4: 58,872,756 (GRCm39) V182M probably damaging Het
Egflam C A 15: 7,241,633 (GRCm39) W925L probably damaging Het
Ehmt2 A G 17: 35,130,396 (GRCm39) N1071D probably damaging Het
Eif3g A T 9: 20,809,026 (GRCm39) S93T probably damaging Het
Eng C A 2: 32,568,934 (GRCm39) T487K possibly damaging Het
Epb41l3 T C 17: 69,517,361 (GRCm39) Y130H probably damaging Het
F5 A T 1: 164,019,834 (GRCm39) R770* probably null Het
Fam227a A G 15: 79,524,861 (GRCm39) F201S probably damaging Het
Fam50b G A 13: 34,930,847 (GRCm39) E108K probably benign Het
Fcgbpl1 T A 7: 27,863,873 (GRCm39) C2548* probably null Het
Fn1 A G 1: 71,638,824 (GRCm39) I1971T probably damaging Het
Fsip2 T A 2: 82,815,088 (GRCm39) F3607Y probably benign Het
Fsip2 A T 2: 82,818,021 (GRCm39) I4585L probably benign Het
Gas1 T C 13: 60,323,932 (GRCm39) N275S Het
Hus1b A G 13: 31,131,215 (GRCm39) V148A probably benign Het
Ighmbp2 A G 19: 3,316,365 (GRCm39) L575P possibly damaging Het
Igsf21 A T 4: 139,755,542 (GRCm39) F371Y probably damaging Het
Itprid2 A G 2: 79,488,496 (GRCm39) R860G probably damaging Het
Jade1 G T 3: 41,567,723 (GRCm39) R597L probably benign Het
Krt4 A G 15: 101,828,984 (GRCm39) probably null Het
Lap3 T C 5: 45,666,833 (GRCm39) S412P probably benign Het
Lifr A G 15: 7,216,496 (GRCm39) T824A probably damaging Het
Megf6 T A 4: 154,353,076 (GRCm39) C1307* probably null Het
Ndufb10 A T 17: 24,943,166 (GRCm39) V48E possibly damaging Het
Nelfa T C 5: 34,079,357 (GRCm39) K72R possibly damaging Het
Obscn C T 11: 58,886,786 (GRCm39) V7767I unknown Het
Pptc7 T A 5: 122,457,882 (GRCm39) C284S probably benign Het
Pxdc1 A G 13: 34,812,798 (GRCm39) S218P probably damaging Het
Rabep1 T A 11: 70,775,755 (GRCm39) W110R probably damaging Het
Ren1 T C 1: 133,282,007 (GRCm39) Y79H possibly damaging Het
Ripor3 T C 2: 167,825,679 (GRCm39) S760G probably benign Het
Setd1a A G 7: 127,395,415 (GRCm39) E1327G unknown Het
Setd5 T C 6: 113,091,874 (GRCm39) W232R probably damaging Het
Slf1 A T 13: 77,260,790 (GRCm39) H171Q probably damaging Het
Smoc1 A G 12: 81,214,440 (GRCm39) D285G probably damaging Het
Taf10 T C 7: 105,393,134 (GRCm39) Y97C probably damaging Het
Tgfbr2 G A 9: 115,939,023 (GRCm39) S293L possibly damaging Het
Tmem181a A G 17: 6,346,075 (GRCm39) I190V probably benign Het
Traf6 C T 2: 101,521,825 (GRCm39) T220I possibly damaging Het
Ube4b T C 4: 149,435,973 (GRCm39) N716D probably benign Het
Unc5d T A 8: 29,334,855 (GRCm39) K157N probably damaging Het
Usp19 G A 9: 108,377,377 (GRCm39) R1255H probably damaging Het
Vmn2r12 T A 5: 109,238,349 (GRCm39) I464F probably damaging Het
Zbtb20 A T 16: 43,397,443 (GRCm39) probably benign Het
Zfp790 T G 7: 29,529,205 (GRCm39) L630R possibly damaging Het
Other mutations in Eipr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Eipr1 APN 12 28,914,770 (GRCm39) missense probably damaging 1.00
hoss UTSW 12 28,914,761 (GRCm39) missense probably damaging 1.00
R0331:Eipr1 UTSW 12 28,914,703 (GRCm39) nonsense probably null
R0352:Eipr1 UTSW 12 28,816,784 (GRCm39) missense probably damaging 0.98
R0433:Eipr1 UTSW 12 28,909,330 (GRCm39) missense possibly damaging 0.68
R1807:Eipr1 UTSW 12 28,816,838 (GRCm39) missense probably damaging 1.00
R1883:Eipr1 UTSW 12 28,816,850 (GRCm39) missense possibly damaging 0.82
R1926:Eipr1 UTSW 12 28,914,836 (GRCm39) splice site probably null
R1981:Eipr1 UTSW 12 28,913,024 (GRCm39) missense probably damaging 1.00
R2433:Eipr1 UTSW 12 28,913,042 (GRCm39) missense probably damaging 1.00
R2877:Eipr1 UTSW 12 28,810,091 (GRCm39) missense possibly damaging 0.70
R2970:Eipr1 UTSW 12 28,897,593 (GRCm39) missense probably benign 0.00
R2990:Eipr1 UTSW 12 28,909,267 (GRCm39) missense probably benign 0.06
R4412:Eipr1 UTSW 12 28,909,372 (GRCm39) missense probably damaging 1.00
R4463:Eipr1 UTSW 12 28,909,338 (GRCm39) missense probably damaging 1.00
R5087:Eipr1 UTSW 12 28,878,855 (GRCm39) missense probably benign 0.11
R5430:Eipr1 UTSW 12 28,913,015 (GRCm39) missense probably damaging 1.00
R5619:Eipr1 UTSW 12 28,917,078 (GRCm39) missense probably damaging 1.00
R6454:Eipr1 UTSW 12 28,914,761 (GRCm39) missense probably damaging 1.00
R6696:Eipr1 UTSW 12 28,909,357 (GRCm39) missense probably benign
R7038:Eipr1 UTSW 12 28,801,817 (GRCm39) unclassified probably benign
R7417:Eipr1 UTSW 12 28,916,954 (GRCm39) missense probably benign 0.04
R7808:Eipr1 UTSW 12 28,816,769 (GRCm39) critical splice acceptor site probably null
R8037:Eipr1 UTSW 12 28,914,676 (GRCm39) missense probably benign 0.00
R8942:Eipr1 UTSW 12 28,917,053 (GRCm39) missense probably damaging 1.00
R9778:Eipr1 UTSW 12 28,897,657 (GRCm39) critical splice donor site probably null
Z1176:Eipr1 UTSW 12 28,909,286 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- GGGTGGTTTCCATAGTCCATTC -3'
(R):5'- GTTTCCACACTTGAACCGGC -3'

Sequencing Primer
(F):5'- AGTCCATTCATTCTTACATGTGCTG -3'
(R):5'- ACTTGAACCGGCGCAGTTG -3'
Posted On 2020-07-13