Incidental Mutation 'R5430:Eipr1'
ID 427141
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 042996-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5430 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 28801802-28917493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28913015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 239 (N239Y)
Ref Sequence ENSEMBL: ENSMUSP00000152220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035657] [ENSMUST00000221555] [ENSMUST00000221877]
AlphaFold Q8K0G5
Predicted Effect probably benign
Transcript: ENSMUST00000035657
SMART Domains Protein: ENSMUSP00000038845
Gene: ENSMUSG00000036613

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220933
Predicted Effect possibly damaging
Transcript: ENSMUST00000221555
AA Change: N141Y

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221574
Predicted Effect probably damaging
Transcript: ENSMUST00000221877
AA Change: N239Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7575 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 96% (54/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik T A 9: 39,963,587 (GRCm39) noncoding transcript Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Arhgef1 C A 7: 24,611,732 (GRCm39) probably null Het
Brsk1 T C 7: 4,713,435 (GRCm39) F702L probably benign Het
Chrna3 C T 9: 54,920,192 (GRCm39) V470I probably damaging Het
Cpm A G 10: 117,511,986 (GRCm39) Q310R possibly damaging Het
Dennd5a T C 7: 109,533,447 (GRCm39) T108A probably damaging Het
Dvl3 C T 16: 20,342,481 (GRCm39) R145W probably damaging Het
E4f1 G A 17: 24,663,944 (GRCm39) A532V probably damaging Het
Eid1 A G 2: 125,515,550 (GRCm39) T147A probably damaging Het
Eml5 T C 12: 98,760,417 (GRCm39) I1777M probably damaging Het
Gm11787 A T 4: 3,512,786 (GRCm39) noncoding transcript Het
Gnat2 T C 3: 108,005,716 (GRCm39) L227P probably damaging Het
H2-T15 C T 17: 36,366,967 (GRCm39) V359I probably benign Het
Jag1 T C 2: 136,943,626 (GRCm39) H190R possibly damaging Het
Kdm7a A G 6: 39,126,276 (GRCm39) W570R possibly damaging Het
Lmbrd1 A G 1: 24,732,061 (GRCm39) T93A possibly damaging Het
Lrch4 T C 5: 137,636,795 (GRCm39) S433P possibly damaging Het
Lrp1 G A 10: 127,376,930 (GRCm39) R4216W probably damaging Het
Magohb A G 6: 131,266,381 (GRCm39) Y42H probably damaging Het
Melk A G 4: 44,309,033 (GRCm39) H130R probably damaging Het
Mettl24 G T 10: 40,613,780 (GRCm39) R173L probably benign Het
Mup4 A T 4: 59,960,044 (GRCm39) H73Q probably damaging Het
Mylk2 A T 2: 152,759,468 (GRCm39) E386V probably damaging Het
Nppb C T 4: 148,070,838 (GRCm39) P71L probably benign Het
Oca2 T C 7: 55,945,208 (GRCm39) V272A probably damaging Het
Or14j6 T A 17: 38,215,304 (GRCm39) I289N probably damaging Het
Or2t6 C T 14: 14,175,692 (GRCm38) R130H probably benign Het
Or4c10 A T 2: 89,760,257 (GRCm39) I35F probably benign Het
Osbpl6 T C 2: 76,416,482 (GRCm39) S628P probably damaging Het
Papola T C 12: 105,775,843 (GRCm39) V253A probably damaging Het
Pex12 T C 11: 83,188,572 (GRCm39) D141G probably damaging Het
Ppm1k A T 6: 57,501,871 (GRCm39) C97* probably null Het
Ptprh T A 7: 4,554,046 (GRCm39) E807V probably damaging Het
Sema3a A T 5: 13,615,730 (GRCm39) T385S probably damaging Het
Sfn T C 4: 133,328,938 (GRCm39) Y48C probably damaging Het
Slc38a8 A G 8: 120,220,959 (GRCm39) I200T probably benign Het
Smarcal1 T C 1: 72,665,776 (GRCm39) V758A probably damaging Het
Stmn4 A G 14: 66,595,463 (GRCm39) M190V possibly damaging Het
Syt3 T G 7: 44,040,337 (GRCm39) L190R possibly damaging Het
Tbl1xr1 T A 3: 22,246,246 (GRCm39) D255E probably benign Het
Ttbk2 C T 2: 120,608,046 (GRCm39) R191H probably damaging Het
Vmn1r238 G T 18: 3,122,521 (GRCm39) L298M possibly damaging Het
Vmn2r45 A C 7: 8,486,333 (GRCm39) Y318* probably null Het
Vsig8 T C 1: 172,387,196 (GRCm39) I24T probably damaging Het
Wdr3 G A 3: 100,064,643 (GRCm39) T166I possibly damaging Het
Zfp354c A G 11: 50,706,022 (GRCm39) I351T probably benign Het
Zfp52 A G 17: 21,775,329 (GRCm39) T8A probably benign 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
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
R8175:Eipr1 UTSW 12 28,913,106 (GRCm39) missense
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'- GCTAGGATTCCCTCTGCTTG -3'
(R):5'- AAGCTGGTTTGTGCTTTTCCAAATG -3'

Sequencing Primer
(F):5'- TCTGCTTGGCTGCCAGC -3'
(R):5'- GCAGCATGCAAATGAGTC -3'
Posted On 2016-09-01