Incidental Mutation 'R8108:Ier3ip1'
ID 630771
Institutional Source Beutler Lab
Gene Symbol Ier3ip1
Ensembl Gene ENSMUSG00000090000
Gene Name immediate early response 3 interacting protein 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R8108 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 76930017-76941605 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76940525 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 69 (I69K)
Ref Sequence ENSEMBL: ENSMUSP00000026487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026485] [ENSMUST00000026487] [ENSMUST00000097521] [ENSMUST00000097522] [ENSMUST00000142456] [ENSMUST00000143910] [ENSMUST00000145634] [ENSMUST00000147332] [ENSMUST00000148955] [ENSMUST00000150990] [ENSMUST00000156454]
AlphaFold Q9CR20
Predicted Effect probably benign
Transcript: ENSMUST00000026485
SMART Domains Protein: ENSMUSP00000026485
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.1e-21 PFAM
Pfam:HAD_2 167 223 1e-7 PFAM
Pfam:Hydrolase_like 176 251 3.4e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000026487
AA Change: I69K

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026487
Gene: ENSMUSG00000090000
AA Change: I69K

DomainStartEndE-ValueType
Pfam:Yos1 5 82 1.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097521
SMART Domains Protein: ENSMUSP00000095128
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 123 4.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097522
SMART Domains Protein: ENSMUSP00000095129
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.4e-21 PFAM
Pfam:HAD_2 161 223 1.1e-7 PFAM
Pfam:Hydrolase_like 176 251 1.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142456
SMART Domains Protein: ENSMUSP00000118504
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Yos1 5 66 4.8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143910
SMART Domains Protein: ENSMUSP00000118678
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 116 2.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145634
SMART Domains Protein: ENSMUSP00000123320
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.4e-21 PFAM
Pfam:HAD_2 161 223 1.1e-7 PFAM
Pfam:Hydrolase_like 176 251 1.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147332
SMART Domains Protein: ENSMUSP00000116152
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 123 4.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148955
SMART Domains Protein: ENSMUSP00000116243
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.4e-21 PFAM
Pfam:HAD_2 161 223 1.1e-7 PFAM
Pfam:Hydrolase_like 176 251 1.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150990
SMART Domains Protein: ENSMUSP00000114212
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 193 1.4e-21 PFAM
Pfam:HAD_2 161 223 1.1e-7 PFAM
Pfam:Hydrolase_like 176 251 1.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156454
SMART Domains Protein: ENSMUSP00000123035
Gene: ENSMUSG00000025421

DomainStartEndE-ValueType
Pfam:Hydrolase_6 10 60 1.6e-13 PFAM
Meta Mutation Damage Score 0.0691 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.3%
Validation Efficiency 99% (72/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T A 12: 84,017,361 H414Q probably benign Het
Actrt2 A T 4: 154,667,036 D214E probably benign Het
Ccdc7a T C 8: 128,980,153 T332A unknown Het
Chd9 C T 8: 90,933,224 H271Y unknown Het
Depdc5 T G 5: 32,945,049 D966E probably benign Het
Dolpp1 A G 2: 30,396,246 Y119C probably benign Het
Dscam G C 16: 96,643,879 D1537E probably benign Het
Dusp16 A G 6: 134,739,873 I157T probably benign Het
Dyrk2 T C 10: 118,859,829 D508G probably benign Het
Endov T C 11: 119,507,411 V334A probably benign Het
Ep400 A T 5: 110,687,883 V1956E unknown Het
Erich3 A T 3: 154,720,115 Y83F possibly damaging Het
Fbrsl1 T C 5: 110,378,379 probably null Het
Gm1110 T C 9: 26,920,661 I65V probably damaging Het
Gm28374 A G 19: 6,082,200 V19A Het
Gm436 A T 4: 144,670,669 N164K probably benign Het
Gpr107 C A 2: 31,184,869 H336Q probably damaging Het
Gpr137b T C 13: 13,359,406 Y355C Het
Grm1 C A 10: 10,720,132 R584L probably benign Het
Gse1 T C 8: 120,229,810 S347P unknown Het
Impact T G 18: 12,984,331 L154V probably benign Het
Katnb1 T C 8: 95,093,945 F141S possibly damaging Het
Kifap3 T A 1: 163,797,362 N162K probably damaging Het
Klhl5 A G 5: 65,148,587 probably null Het
Klre1 A G 6: 129,584,222 D182G probably benign Het
Krt42 T A 11: 100,266,957 Y227F probably benign Het
Lhcgr T A 17: 88,742,050 K683* probably null Het
Lrrc37a G A 11: 103,503,057 S514F probably benign Het
Lrrc9 G T 12: 72,454,059 L186F probably damaging Het
Metrn A G 17: 25,795,030 V274A probably benign Het
Mettl25 A T 10: 105,823,179 F414L possibly damaging Het
Mixl1 A G 1: 180,696,702 V104A probably damaging Het
Myo9b T A 8: 71,348,342 M1047K probably damaging Het
Nbea G A 3: 55,819,315 A2081V probably benign Het
Ndufs1 A T 1: 63,150,012 D551E possibly damaging Het
Nectin3 T C 16: 46,464,121 T67A possibly damaging Het
Nme8 C T 13: 19,650,960 V519I probably benign Het
Npat G T 9: 53,571,129 G1379V probably benign Het
Obscn T A 11: 59,061,634 T3870S probably benign Het
Olfr1000 T C 2: 85,608,749 R54G possibly damaging Het
Olfr1288 T C 2: 111,479,234 V150A possibly damaging Het
Olfr177 T C 16: 58,872,236 M305V probably benign Het
Olfr379-ps1 T A 11: 73,433,854 H124L unknown Het
Olfr871 T A 9: 20,212,451 M34K possibly damaging Het
Olfr910 A G 9: 38,539,410 N172D probably damaging Het
Parp8 A T 13: 116,867,073 Y769* probably null Het
Pcnx C T 12: 81,918,819 R59* probably null Het
Pdzd2 G A 15: 12,373,506 S2181L probably benign Het
Phldb1 T C 9: 44,711,161 E65G probably damaging Het
Ppif C T 14: 25,698,326 T157M probably damaging Het
Ppp3ca T A 3: 136,932,225 probably null Het
Proser1 T A 3: 53,472,088 probably null Het
Reg3d T A 6: 78,376,079 K174* probably null Het
Rubcn A T 16: 32,856,950 L55Q probably damaging Het
Sec14l3 T C 11: 4,066,198 L39P probably damaging Het
Ska3 A G 14: 57,826,102 I4T probably damaging Het
Slc30a10 A G 1: 185,464,154 I338V possibly damaging Het
Slc35g1 C G 19: 38,402,829 S186R probably damaging Het
Slc35g1 T A 19: 38,402,831 L187H probably damaging Het
Spata5 T C 3: 37,431,782 S218P probably benign Het
Tbc1d5 T C 17: 50,742,086 I659V probably benign Het
Tbl3 G T 17: 24,700,916 D751E probably benign Het
Tdrd3 T A 14: 87,486,266 D311E possibly damaging Het
Tenm4 T C 7: 96,854,728 F1335S probably benign Het
Tm2d1 A T 4: 98,375,023 C83S probably damaging Het
Tnfrsf22 A T 7: 143,638,373 V192D unknown Het
Trpm6 A G 19: 18,811,790 T575A probably damaging Het
Uri1 T C 7: 37,981,673 D102G possibly damaging Het
Vmn2r1 T A 3: 64,103,050 C570S probably damaging Het
Vps13a C T 19: 16,640,787 V2906I probably damaging Het
Zfp472 T C 17: 32,978,003 Y351H possibly damaging Het
Zfp874a G T 13: 67,443,234 Y110* probably null Het
Zfp986 T A 4: 145,899,305 N178K probably benign Het
Other mutations in Ier3ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
alarmist UTSW 18 76930178 missense probably damaging 1.00
emergent UTSW 18 76940525 missense possibly damaging 0.72
R4469:Ier3ip1 UTSW 18 76940598 unclassified probably benign
R4888:Ier3ip1 UTSW 18 76939531 unclassified probably benign
R6561:Ier3ip1 UTSW 18 76939648 missense probably damaging 1.00
R6953:Ier3ip1 UTSW 18 76939613 missense probably damaging 0.99
R7042:Ier3ip1 UTSW 18 76930132 missense possibly damaging 0.73
R7227:Ier3ip1 UTSW 18 76939634 missense probably benign 0.00
R8437:Ier3ip1 UTSW 18 76930178 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAACACCCAGACATATGGTGG -3'
(R):5'- AGTGCTCCTGCCTCTGATAATC -3'

Sequencing Primer
(F):5'- ACAGAGGCATTCCTGGTTCAC -3'
(R):5'- CCGGTCACAACAGAAAGT -3'
Posted On 2020-06-30