Incidental Mutation 'R7042:Ier3ip1'
ID 547138
Institutional Source Beutler Lab
Gene Symbol Ier3ip1
Ensembl Gene ENSMUSG00000090000
Gene Name immediate early response 3 interacting protein 1
Synonyms 1110057H19Rik
MMRRC Submission 045141-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7042 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 77017723-77029310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77017828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 3 (F3I)
Ref Sequence ENSEMBL: ENSMUSP00000118504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026487] [ENSMUST00000142456]
AlphaFold Q9CR20
Predicted Effect probably benign
Transcript: ENSMUST00000026487
AA Change: F3I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026487
Gene: ENSMUSG00000090000
AA Change: F3I

DomainStartEndE-ValueType
Pfam:Yos1 5 82 1.3e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142456
AA Change: F3I

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118504
Gene: ENSMUSG00000025421
AA Change: F3I

DomainStartEndE-ValueType
Pfam:Yos1 5 66 4.8e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,192,098 (GRCm39) S554G possibly damaging Het
Adcy7 G T 8: 89,042,378 (GRCm39) R415L probably damaging Het
Aox1 A T 1: 58,141,759 (GRCm39) I1182F probably damaging Het
Ccdc7b T A 8: 129,811,730 (GRCm39) Y147N probably benign Het
Clcnka A G 4: 141,118,691 (GRCm39) I398T probably damaging Het
Cst8 T A 2: 148,641,796 (GRCm39) probably null Het
Dcxr T C 11: 120,617,841 (GRCm39) D45G possibly damaging Het
Dhx38 A T 8: 110,283,617 (GRCm39) M510K possibly damaging Het
Dync2i1 T C 12: 116,218,061 (GRCm39) I182M probably benign Het
Ebf1 T A 11: 44,882,338 (GRCm39) H431Q probably damaging Het
Eml4 T C 17: 83,768,999 (GRCm39) I681T probably damaging Het
Etf1 T C 18: 35,043,219 (GRCm39) N164S probably benign Het
Fmo2 A G 1: 162,708,226 (GRCm39) V303A probably damaging Het
Foxl2 T A 9: 98,837,715 (GRCm39) M1K probably null Het
Gm3404 A T 5: 146,462,969 (GRCm39) E50D probably benign Het
Gpr61 G A 3: 108,058,647 (GRCm39) P5S possibly damaging Het
Hcrtr1 A G 4: 130,024,653 (GRCm39) probably benign Het
Ifi206 G A 1: 173,308,808 (GRCm39) P396L Het
Ifi209 G A 1: 173,470,236 (GRCm39) V275I probably benign Het
Ighv1-69 T C 12: 115,586,909 (GRCm39) S75G probably benign Het
Kcnj3 A T 2: 55,484,877 (GRCm39) H325L possibly damaging Het
Klrk1 A T 6: 129,593,734 (GRCm39) S50T possibly damaging Het
Mfsd4b4 T A 10: 39,768,514 (GRCm39) Y193F probably damaging Het
Nlrp5 A G 7: 23,116,905 (GRCm39) I210V possibly damaging Het
Or4p20 T A 2: 88,253,746 (GRCm39) I208F possibly damaging Het
Or5w12 A T 2: 87,501,935 (GRCm39) Y259N possibly damaging Het
Or8b3 G T 9: 38,314,196 (GRCm39) G6C probably damaging Het
Or8d23 A G 9: 38,841,622 (GRCm39) S52G possibly damaging Het
Pax6 A T 2: 105,526,718 (GRCm39) H208L probably benign Het
Pgc C A 17: 48,044,745 (GRCm39) Q331K probably benign Het
Phldb1 A G 9: 44,605,721 (GRCm39) S370P probably damaging Het
Pi4k2a T C 19: 42,093,337 (GRCm39) I226T probably benign Het
Pick1 T C 15: 79,132,965 (GRCm39) S342P probably damaging Het
Plscr1 A G 9: 92,153,588 (GRCm39) M312V probably damaging Het
Ppp3cc T G 14: 70,462,468 (GRCm39) K399Q probably benign Het
Qpctl T C 7: 18,880,943 (GRCm39) H163R probably benign Het
Rab11fip5 A G 6: 85,351,110 (GRCm39) V134A possibly damaging Het
Rasal1 T A 5: 120,802,025 (GRCm39) probably null Het
Rem2 T A 14: 54,715,548 (GRCm39) I171N probably damaging Het
Sec22a T A 16: 35,149,885 (GRCm39) I214L probably benign Het
Setbp1 T C 18: 79,130,070 (GRCm39) D54G probably damaging Het
Slc27a2 C T 2: 126,409,700 (GRCm39) A294V probably damaging Het
Slfn14 T A 11: 83,167,430 (GRCm39) D695V probably damaging Het
Smc6 T A 12: 11,359,301 (GRCm39) I975K probably damaging Het
Spice1 T C 16: 44,206,043 (GRCm39) F835L probably benign Het
Tars2 A T 3: 95,658,057 (GRCm39) H222Q probably benign Het
Tmtc2 A T 10: 105,206,477 (GRCm39) F273I probably damaging Het
Ttc39d C A 17: 80,523,891 (GRCm39) D183E probably benign Het
Vasp A G 7: 18,995,946 (GRCm39) S128P probably benign Het
Vcpip1 A G 1: 9,818,378 (GRCm39) S2P unknown Het
Vmn2r98 T C 17: 19,301,184 (GRCm39) Y729H probably benign Het
Wdr18 A T 10: 79,801,944 (GRCm39) D243V probably benign Het
Xirp2 T C 2: 67,343,633 (GRCm39) V1958A probably benign Het
Zfp451 A T 1: 33,816,474 (GRCm39) M492K probably damaging Het
Zfp804b A G 5: 6,820,042 (GRCm39) I1007T probably benign Het
Other mutations in Ier3ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
alarmist UTSW 18 77,017,874 (GRCm39) missense probably damaging 1.00
emergent UTSW 18 77,028,221 (GRCm39) missense possibly damaging 0.72
R4469:Ier3ip1 UTSW 18 77,028,294 (GRCm39) unclassified probably benign
R4888:Ier3ip1 UTSW 18 77,027,227 (GRCm39) unclassified probably benign
R6561:Ier3ip1 UTSW 18 77,027,344 (GRCm39) missense probably damaging 1.00
R6953:Ier3ip1 UTSW 18 77,027,309 (GRCm39) missense probably damaging 0.99
R7227:Ier3ip1 UTSW 18 77,027,330 (GRCm39) missense probably benign 0.00
R8108:Ier3ip1 UTSW 18 77,028,221 (GRCm39) missense possibly damaging 0.72
R8437:Ier3ip1 UTSW 18 77,017,874 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAACTACTAAGCGCGGG -3'
(R):5'- AATAGAGTCCAGGTCCCTCTTC -3'

Sequencing Primer
(F):5'- TGCTCCGTGATCGCGTT -3'
(R):5'- AGGTCCCTCTTCCACCGG -3'
Posted On 2019-05-13