Incidental Mutation 'R5619:Eipr1'
ID439726
Institutional Source Beutler Lab
Gene Symbol Eipr1
Ensembl Gene ENSMUSG00000036613
Gene NameEARP complex and GARP complex interacting protein 1
SynonymsTssc1, D12Ertd604e
MMRRC Submission 043278-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5619 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location28751803-28869865 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28867079 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 382 (Y382C)
Ref Sequence ENSEMBL: ENSMUSP00000152220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035657] [ENSMUST00000221555] [ENSMUST00000221877]
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 probably benign
Transcript: ENSMUST00000221555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221574
Predicted Effect probably damaging
Transcript: ENSMUST00000221877
AA Change: Y382C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4646 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 99% (80/81)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
4931423N10Rik T C 2: 23,257,005 probably null Het
Adgre1 T G 17: 57,420,437 L456V probably benign Het
Adgrv1 C T 13: 81,472,500 G3943R probably damaging Het
Akap9 A G 5: 3,954,760 probably benign Het
Atp1a2 T A 1: 172,279,381 I791F probably damaging Het
BC003965 G A 17: 25,184,989 S101N probably damaging Het
BC004004 C G 17: 29,282,729 P81A probably damaging Het
Brca2 C A 5: 150,557,114 T2755K probably damaging Het
Cacna1c T C 6: 118,742,361 D215G probably damaging Het
Ccdc142 C T 6: 83,103,622 S445F probably benign Het
Comt T C 16: 18,411,719 E80G probably damaging Het
Coq7 T C 7: 118,527,486 probably benign Het
Coro7 C A 16: 4,676,935 probably null Het
Cyp2c40 A G 19: 39,803,784 S239P probably damaging Het
Dnah5 T C 15: 28,302,435 S1613P probably damaging Het
Dync2h1 T C 9: 7,118,885 I2193M probably benign Het
Fastkd2 T A 1: 63,739,310 H447Q probably benign Het
Galk2 A T 2: 125,975,397 R369* probably null Het
Gli2 G A 1: 118,836,755 A1222V probably benign Het
Golim4 T A 3: 75,906,495 K141* probably null Het
Gtpbp3 G T 8: 71,491,048 probably benign Het
Gzmd C T 14: 56,129,767 A223T probably benign Het
Igf2r T C 17: 12,739,334 R151G probably damaging Het
Itga8 T A 2: 12,265,328 R116W probably damaging Het
Klhdc1 T G 12: 69,258,145 probably null Het
Klhl25 T C 7: 75,866,854 Y198H probably benign Het
Klhl29 A T 12: 5,140,587 M136K probably benign Het
Lipf A T 19: 33,966,892 Y167F possibly damaging Het
Lpar1 T C 4: 58,487,155 K39E possibly damaging Het
Mbtd1 T A 11: 93,929,879 probably null Het
Myo1a T A 10: 127,718,544 N794K probably benign Het
Nmrk1 T C 19: 18,645,088 L177P possibly damaging Het
Noxa1 C T 2: 25,085,976 E401K probably damaging Het
Olfr1276 A T 2: 111,257,511 Y132F probably damaging Het
Olfr980 T A 9: 40,006,743 M69L probably benign Het
Ostm1 T A 10: 42,679,329 C116S probably damaging Het
Pcdhga7 T C 18: 37,715,747 I269T probably benign Het
Pfkfb3 T C 2: 11,484,659 K276R probably benign Het
Pfkp A T 13: 6,598,729 probably benign Het
Pitpnm1 A G 19: 4,103,270 D142G probably damaging Het
Pkp3 T C 7: 141,088,506 L556P probably damaging Het
Plb1 C A 5: 32,333,497 T1046N probably damaging Het
Plxnb2 T C 15: 89,162,809 S770G possibly damaging Het
Polk A T 13: 96,483,556 I733N probably damaging Het
Prkg2 C A 5: 98,988,297 C301F probably damaging Het
Rabgap1l T C 1: 160,238,572 T189A probably benign Het
Raph1 T C 1: 60,490,255 probably benign Het
Rbm22 T A 18: 60,560,827 M1K probably null Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rnf186 T A 4: 138,967,404 I85N probably benign Het
Ryr2 C A 13: 11,708,202 R2517L probably damaging Het
Sec63 T A 10: 42,789,382 Y103N probably damaging Het
Serpinb3a G A 1: 107,047,108 P232S probably damaging Het
Slco6d1 C A 1: 98,496,222 T533K probably damaging Het
Smarcad1 T A 6: 65,111,881 D1000E probably benign Het
Spata46 A T 1: 170,308,921 I14F probably damaging Het
Speer4b T C 5: 27,498,817 H106R possibly damaging Het
Spint4 T C 2: 164,700,841 L118P probably benign Het
Sptbn5 A G 2: 120,050,132 noncoding transcript Het
Tgfbr3 A T 5: 107,140,514 I427N probably benign Het
Thbs2 C A 17: 14,681,244 C491F probably damaging Het
Tmem232 T A 17: 65,486,511 E64D probably benign Het
Tnpo3 A T 6: 29,565,198 C585* probably null Het
Ttc13 A T 8: 124,679,944 probably benign Het
Tuba8 C T 6: 121,225,895 A389V probably damaging Het
Usp25 A G 16: 77,033,945 I30V probably benign Het
Vmn2r31 T A 7: 7,384,530 K681* probably null Het
Vmn2r88 A G 14: 51,413,910 E235G probably damaging Het
Vps29 T A 5: 122,354,448 probably benign Het
Wdr1 A C 5: 38,529,536 V568G possibly damaging Het
Zfp64 T G 2: 168,899,814 Q398P probably damaging Het
Zfp64 G T 2: 168,899,815 Q398K probably damaging Het
Zfp839 T C 12: 110,864,036 Y398H probably damaging Het
Other mutations in Eipr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Eipr1 APN 12 28864771 missense probably damaging 1.00
hoss UTSW 12 28864762 missense probably damaging 1.00
R0331:Eipr1 UTSW 12 28864704 nonsense probably null
R0352:Eipr1 UTSW 12 28766785 missense probably damaging 0.98
R0433:Eipr1 UTSW 12 28859331 missense possibly damaging 0.68
R1807:Eipr1 UTSW 12 28766839 missense probably damaging 1.00
R1883:Eipr1 UTSW 12 28766851 missense possibly damaging 0.82
R1926:Eipr1 UTSW 12 28864837 splice site probably null
R1981:Eipr1 UTSW 12 28863025 missense probably damaging 1.00
R2433:Eipr1 UTSW 12 28863043 missense probably damaging 1.00
R2877:Eipr1 UTSW 12 28760092 missense possibly damaging 0.70
R2970:Eipr1 UTSW 12 28847594 missense probably benign 0.00
R2990:Eipr1 UTSW 12 28859268 missense probably benign 0.06
R4412:Eipr1 UTSW 12 28859373 missense probably damaging 1.00
R4463:Eipr1 UTSW 12 28859339 missense probably damaging 1.00
R5087:Eipr1 UTSW 12 28828856 missense probably benign 0.11
R5430:Eipr1 UTSW 12 28863016 missense probably damaging 1.00
R6454:Eipr1 UTSW 12 28864762 missense probably damaging 1.00
R6696:Eipr1 UTSW 12 28859358 missense probably benign
R7038:Eipr1 UTSW 12 28751818 unclassified probably benign
R7417:Eipr1 UTSW 12 28866955 missense probably benign 0.04
R7808:Eipr1 UTSW 12 28766770 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CACTCGGGTCTCTATGTCTTGG -3'
(R):5'- TGTGTCCAGTAAAGCTCCCG -3'

Sequencing Primer
(F):5'- CTCTATGTCTTGGGCTATAGGAG -3'
(R):5'- TAAAGCTCCCGCCCATGCTG -3'
Posted On2016-11-08