Incidental Mutation 'R8437:Ier3ip1'
ID 654071
Institutional Source Beutler Lab
Gene Symbol Ier3ip1
Ensembl Gene ENSMUSG00000090000
Gene Name immediate early response 3 interacting protein 1
Synonyms 1110057H19Rik
MMRRC Submission 067901-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8437 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 77017723-77029310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77017874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 18 (A18V)
Ref Sequence ENSEMBL: ENSMUSP00000026487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026487] [ENSMUST00000142456]
AlphaFold Q9CR20
Predicted Effect probably damaging
Transcript: ENSMUST00000026487
AA Change: A18V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026487
Gene: ENSMUSG00000090000
AA Change: A18V

DomainStartEndE-ValueType
Pfam:Yos1 5 82 1.3e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142456
AA Change: A18V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118504
Gene: ENSMUSG00000025421
AA Change: A18V

DomainStartEndE-ValueType
Pfam:Yos1 5 66 4.8e-24 PFAM
Meta Mutation Damage Score 0.1932 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T C 7: 78,998,178 (GRCm39) Y237H probably damaging Het
Adprh T C 16: 38,266,449 (GRCm39) E231G probably benign Het
Anks6 T C 4: 47,030,705 (GRCm39) S631G probably benign Het
Bpifa5 T A 2: 154,007,526 (GRCm39) L156H probably damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
C8b T C 4: 104,644,040 (GRCm39) Y236H probably damaging Het
Celf2 C T 2: 6,551,956 (GRCm39) G508S probably damaging Het
Clca3a1 T C 3: 144,710,822 (GRCm39) T794A probably benign Het
Col27a1 T A 4: 63,237,701 (GRCm39) probably benign Het
Cyp2j12 C T 4: 95,987,899 (GRCm39) C497Y probably damaging Het
Dnmt3l T C 10: 77,888,602 (GRCm39) I168T possibly damaging Het
Dtna C T 18: 23,723,398 (GRCm39) Q201* probably null Het
Fetub T C 16: 22,752,985 (GRCm39) S146P possibly damaging Het
Gak T G 5: 108,757,272 (GRCm39) E242D probably benign Het
Gfpt2 T A 11: 49,695,694 (GRCm39) probably benign Het
Ginm1 C T 10: 7,646,130 (GRCm39) C290Y probably benign Het
Hepacam T C 9: 37,296,006 (GRCm39) S386P probably damaging Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hnrnpa3 T G 2: 75,493,019 (GRCm39) S220A unknown Het
Hydin A G 8: 111,189,367 (GRCm39) E1257G probably damaging Het
Ift140 T A 17: 25,313,651 (GRCm39) C1361S probably damaging Het
Il16 T C 7: 83,301,351 (GRCm39) Q955R probably damaging Het
Itpr3 T G 17: 27,326,277 (GRCm39) M1349R probably damaging Het
Kcnk4 C T 19: 6,903,602 (GRCm39) V316I probably benign Het
Marchf6 A G 15: 31,482,695 (GRCm39) I501T possibly damaging Het
Msl2 T A 9: 100,978,167 (GRCm39) S180R probably benign Het
Muc16 C T 9: 18,569,220 (GRCm39) V1100I unknown Het
Nbas T C 12: 13,616,251 (GRCm39) V2263A possibly damaging Het
Or6b2 C T 1: 92,408,187 (GRCm39) S52N probably benign Het
Or7g33 C T 9: 19,448,833 (GRCm39) R131H probably benign Het
Pdilt T G 7: 119,114,109 (GRCm39) I130L possibly damaging Het
Phldb3 A G 7: 24,328,375 (GRCm39) T640A probably damaging Het
Pole2 G C 12: 69,250,961 (GRCm39) Y467* probably null Het
Pxdn C T 12: 30,052,043 (GRCm39) T740M probably damaging Het
Rabac1 T C 7: 24,671,672 (GRCm39) I83V probably damaging Het
Rrp7a T C 15: 83,001,773 (GRCm39) Q245R probably damaging Het
Sae1 A G 7: 16,104,279 (GRCm39) V110A probably damaging Het
Sema3c G T 5: 17,867,936 (GRCm39) V116F probably damaging Het
Serpina3i A G 12: 104,231,963 (GRCm39) Y200C probably damaging Het
Slc25a45 C T 19: 5,930,135 (GRCm39) T35M probably benign Het
Speer4b C T 5: 27,703,818 (GRCm39) R107Q probably benign Het
Sycp2 T C 2: 178,006,651 (GRCm39) T843A probably damaging Het
Tecta T A 9: 42,243,856 (GRCm39) I2004F probably damaging Het
Tma16 T C 8: 66,929,448 (GRCm39) D182G possibly damaging Het
Topaz1 T A 9: 122,610,427 (GRCm39) Y1167* probably null Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Usp25 A G 16: 76,830,800 (GRCm39) T19A probably damaging Het
Vpreb1b G A 16: 17,798,753 (GRCm39) G80S probably damaging Het
Wdfy4 A G 14: 32,798,332 (GRCm39) C2025R Het
Zyg11a T A 4: 108,075,103 (GRCm39) H6L probably damaging 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
R7042:Ier3ip1 UTSW 18 77,017,828 (GRCm39) missense possibly damaging 0.73
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
Predicted Primers PCR Primer
(F):5'- ACAAACTACTAAGCGCGGGG -3'
(R):5'- TCTCCTGTAAATCGGCAACAAG -3'

Sequencing Primer
(F):5'- GCTATGATGGCAGGGGC -3'
(R):5'- TCCTGTAAATCGGCAACAAGAAAACG -3'
Posted On 2020-10-20