Incidental Mutation 'IGL02415:Eeig2'
ID 292412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eeig2
Ensembl Gene ENSMUSG00000040339
Gene Name EEIG family member 2
Synonyms B430201A12Rik, Fam102b, 1600010D10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02415
Quality Score
Status
Chromosome 3
Chromosomal Location 108878313-108934923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108887608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 219 (Y219H)
Ref Sequence ENSEMBL: ENSMUSP00000131904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046924] [ENSMUST00000171143]
AlphaFold Q8BQS4
Predicted Effect probably damaging
Transcript: ENSMUST00000046924
AA Change: Y188H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039751
Gene: ENSMUSG00000040339
AA Change: Y188H

DomainStartEndE-ValueType
Pfam:NT-C2 1 118 7.7e-24 PFAM
low complexity region 230 257 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171143
AA Change: Y219H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131904
Gene: ENSMUSG00000040339
AA Change: Y219H

DomainStartEndE-ValueType
Pfam:NT-C2 3 149 1.3e-31 PFAM
low complexity region 261 288 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,777,056 (GRCm39) D124G probably benign Het
Adamts13 T A 2: 26,879,295 (GRCm39) I616N possibly damaging Het
Adamts3 T C 5: 89,854,506 (GRCm39) probably null Het
Amy1 T C 3: 113,357,234 (GRCm39) I202V probably benign Het
Bdp1 G A 13: 100,225,916 (GRCm39) T322I probably damaging Het
Cep295 A G 9: 15,264,316 (GRCm39) L110S probably damaging Het
Cep72 T C 13: 74,198,273 (GRCm39) D369G probably benign Het
Chd3 A T 11: 69,239,739 (GRCm39) probably benign Het
Ckmt2 G A 13: 92,011,459 (GRCm39) probably benign Het
Cyp2s1 T C 7: 25,507,562 (GRCm39) T296A probably damaging Het
E2f5 T A 3: 14,668,957 (GRCm39) V283E probably benign Het
F5 A G 1: 164,019,498 (GRCm39) T658A probably damaging Het
Gml A T 15: 74,688,289 (GRCm39) Y59* probably null Het
Kmo A T 1: 175,476,889 (GRCm39) probably benign Het
Krt25 A T 11: 99,213,398 (GRCm39) I107N probably damaging Het
Llgl2 A G 11: 115,744,111 (GRCm39) M773V probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Med12 T C X: 100,325,396 (GRCm39) V761A probably damaging Het
Mrpl19 T C 6: 81,940,942 (GRCm39) T150A probably benign Het
Muc2 G T 7: 141,305,609 (GRCm39) E646* probably null Het
Muc20 T A 16: 32,615,051 (GRCm39) T109S unknown Het
Nr2f6 T C 8: 71,827,156 (GRCm39) T382A probably benign Het
Nrap A G 19: 56,370,741 (GRCm39) I172T probably damaging Het
Or5an1 A G 19: 12,260,862 (GRCm39) Y150C probably benign Het
Or8b47 T C 9: 38,435,408 (GRCm39) C127R probably benign Het
P3h1 A T 4: 119,105,152 (GRCm39) Q710L probably benign Het
Parvb A G 15: 84,177,016 (GRCm39) H185R probably damaging Het
Pkhd1 A G 1: 20,484,645 (GRCm39) I1970T probably damaging Het
Pkhd1 T C 1: 20,592,983 (GRCm39) Y1710C probably damaging Het
Plxna2 C A 1: 194,326,272 (GRCm39) R69S probably damaging Het
Rad51ap2 A G 12: 11,506,930 (GRCm39) N284S possibly damaging Het
Reln T A 5: 22,176,949 (GRCm39) S1906C possibly damaging Het
Rln1 T C 19: 29,311,798 (GRCm39) R67G probably damaging Het
Shcbp1 C T 8: 4,804,239 (GRCm39) V224I possibly damaging Het
Slc13a4 A G 6: 35,260,172 (GRCm39) probably null Het
Stx6 A G 1: 155,069,059 (GRCm39) E195G possibly damaging Het
Sult2b1 G T 7: 45,391,509 (GRCm39) D90E possibly damaging Het
Taok1 A G 11: 77,431,066 (GRCm39) probably benign Het
Tbx15 A T 3: 99,259,826 (GRCm39) M566L probably benign Het
Tcaf1 C T 6: 42,663,584 (GRCm39) A99T probably benign Het
Tcf20 T A 15: 82,737,660 (GRCm39) M1264L probably benign Het
Tenm4 G A 7: 96,523,281 (GRCm39) V1571M probably damaging Het
Ttc39a A G 4: 109,288,726 (GRCm39) probably benign Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Ulk1 T C 5: 110,935,487 (GRCm39) D926G probably damaging Het
Vmn2r110 T C 17: 20,804,033 (GRCm39) I181V probably benign Het
Vmn2r66 G A 7: 84,656,020 (GRCm39) T332I probably damaging Het
Wdr1 C A 5: 38,688,453 (GRCm39) D161Y probably damaging Het
Wnt7a T C 6: 91,371,539 (GRCm39) Y141C probably damaging Het
Xrra1 G A 7: 99,565,150 (GRCm39) E573K probably benign Het
Zfp334 G T 2: 165,223,771 (GRCm39) Q91K possibly damaging Het
Other mutations in Eeig2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Eeig2 APN 3 108,887,101 (GRCm39) missense possibly damaging 0.94
R0362:Eeig2 UTSW 3 108,887,497 (GRCm39) missense probably benign 0.37
R0502:Eeig2 UTSW 3 108,900,001 (GRCm39) missense probably damaging 1.00
R0505:Eeig2 UTSW 3 108,887,520 (GRCm39) missense probably benign 0.00
R0686:Eeig2 UTSW 3 108,900,001 (GRCm39) missense probably damaging 1.00
R2568:Eeig2 UTSW 3 108,886,164 (GRCm39) missense probably benign 0.09
R3721:Eeig2 UTSW 3 108,887,083 (GRCm39) missense probably damaging 1.00
R4466:Eeig2 UTSW 3 108,887,124 (GRCm39) missense probably benign 0.31
R4613:Eeig2 UTSW 3 108,934,571 (GRCm39) missense probably benign 0.12
R4946:Eeig2 UTSW 3 108,887,544 (GRCm39) missense probably benign 0.00
R5182:Eeig2 UTSW 3 108,892,667 (GRCm39) missense possibly damaging 0.81
R5831:Eeig2 UTSW 3 108,900,019 (GRCm39) missense possibly damaging 0.73
R5930:Eeig2 UTSW 3 108,887,468 (GRCm39) missense probably benign 0.00
R7432:Eeig2 UTSW 3 108,910,723 (GRCm39) missense probably damaging 0.97
R7601:Eeig2 UTSW 3 108,895,628 (GRCm39) missense possibly damaging 0.51
R8309:Eeig2 UTSW 3 108,934,658 (GRCm39) start gained probably benign
Posted On 2015-04-16