Incidental Mutation 'IGL03354:Ermn'
ID 419840
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ermn
Ensembl Gene ENSMUSG00000026830
Gene Name ermin, ERM-like protein
Synonyms A330104H05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03354
Quality Score
Status
Chromosome 2
Chromosomal Location 57935125-57942876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 57942634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 32 (E32A)
Ref Sequence ENSEMBL: ENSMUSP00000088458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090940]
AlphaFold Q5EBJ4
Predicted Effect probably benign
Transcript: ENSMUST00000090940
AA Change: E32A

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088458
Gene: ENSMUSG00000026830
AA Change: E32A

DomainStartEndE-ValueType
low complexity region 169 202 N/A INTRINSIC
SCOP:d1ef1c_ 249 278 5e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,645,041 (GRCm39) A309T possibly damaging Het
Abca15 C A 7: 119,993,711 (GRCm39) Y1310* probably null Het
Adad1 G T 3: 37,160,322 (GRCm39) C552F probably damaging Het
Adam22 A G 5: 8,208,890 (GRCm39) S180P possibly damaging Het
Anxa10 A T 8: 62,549,778 (GRCm39) D22E probably damaging Het
Astn1 T C 1: 158,516,174 (GRCm39) S1255P probably damaging Het
Bhlhe41 T C 6: 145,809,929 (GRCm39) T92A probably damaging Het
Bicc1 G A 10: 70,782,432 (GRCm39) P603S probably benign Het
Camk2d T C 3: 126,590,615 (GRCm39) probably null Het
Ccdc136 T A 6: 29,419,102 (GRCm39) I808N probably damaging Het
Cd200r3 C T 16: 44,773,960 (GRCm39) A124V possibly damaging Het
Cfap70 T C 14: 20,482,050 (GRCm39) E310G probably damaging Het
Cyp2d12 A T 15: 82,443,162 (GRCm39) D357V probably damaging Het
Dnah7b G A 1: 46,124,849 (GRCm39) V173I probably damaging Het
Dnajb4 T A 3: 151,892,115 (GRCm39) E239D probably benign Het
Dzip1 G A 14: 119,149,981 (GRCm39) probably benign Het
Emp2 A G 16: 10,103,429 (GRCm39) I74T probably damaging Het
F10 C A 8: 13,095,089 (GRCm39) T82N probably benign Het
Fam227a T C 15: 79,520,951 (GRCm39) D295G possibly damaging Het
Gm527 T A 12: 64,969,154 (GRCm39) F194I probably damaging Het
Gmcl1 G A 6: 86,703,140 (GRCm39) T98M probably damaging Het
Gucy2g T C 19: 55,221,512 (GRCm39) R330G possibly damaging Het
H1f4 C T 13: 23,806,060 (GRCm39) probably benign Het
Kif1a T C 1: 92,987,957 (GRCm39) H549R probably damaging Het
Klhl14 T A 18: 21,784,785 (GRCm39) D214V probably damaging Het
Lipo2 A G 19: 33,708,270 (GRCm39) F248S probably benign Het
Mctp2 C T 7: 71,810,992 (GRCm39) V661I probably benign Het
Myh15 A T 16: 48,992,373 (GRCm39) M1616L probably benign Het
Nlrp4b A T 7: 10,448,465 (GRCm39) I223F probably damaging Het
Or1j18 A T 2: 36,624,524 (GRCm39) S64C possibly damaging Het
Or1j18 G T 2: 36,624,525 (GRCm39) S64I possibly damaging Het
Or2ad1 T C 13: 21,326,654 (GRCm39) Y191C probably damaging Het
Or2ag2 A G 7: 106,485,307 (GRCm39) V239A probably benign Het
Or2b28 T C 13: 21,531,686 (GRCm39) V196A possibly damaging Het
Or4c3d A C 2: 89,881,911 (GRCm39) C252W probably damaging Het
Or5p80 T A 7: 108,229,735 (GRCm39) C179S possibly damaging Het
Or5w1b T C 2: 87,475,939 (GRCm39) N176S probably damaging Het
Pcsk4 T C 10: 80,161,893 (GRCm39) D116G probably damaging Het
Pibf1 A G 14: 99,388,174 (GRCm39) D440G probably benign Het
Plekho2 T C 9: 65,466,703 (GRCm39) E129G probably null Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rars1 A G 11: 35,715,302 (GRCm39) L248P probably damaging Het
Ruvbl1 C A 6: 88,456,197 (GRCm39) Y90* probably null Het
Schip1 A G 3: 68,402,298 (GRCm39) D125G possibly damaging Het
Skic3 T C 13: 76,330,941 (GRCm39) V1457A possibly damaging Het
Smarca2 T C 19: 26,597,303 (GRCm39) S62P probably benign Het
Sort1 T C 3: 108,256,022 (GRCm39) V656A probably benign Het
Tlr12 A G 4: 128,509,730 (GRCm39) L840P probably damaging Het
Trpm3 T A 19: 22,834,082 (GRCm39) I438N probably damaging Het
Wdr11 C A 7: 129,227,026 (GRCm39) F829L probably benign Het
Zdhhc11 A T 13: 74,127,264 (GRCm39) I214F possibly damaging Het
Other mutations in Ermn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Ermn APN 2 57,942,707 (GRCm39) missense possibly damaging 0.84
IGL01620:Ermn APN 2 57,942,502 (GRCm39) missense probably benign 0.05
IGL02756:Ermn APN 2 57,937,824 (GRCm39) missense probably damaging 1.00
FR4304:Ermn UTSW 2 57,938,098 (GRCm39) unclassified probably benign
FR4304:Ermn UTSW 2 57,938,090 (GRCm39) unclassified probably benign
FR4449:Ermn UTSW 2 57,938,086 (GRCm39) unclassified probably benign
FR4548:Ermn UTSW 2 57,938,100 (GRCm39) unclassified probably benign
FR4548:Ermn UTSW 2 57,938,087 (GRCm39) unclassified probably benign
FR4589:Ermn UTSW 2 57,938,081 (GRCm39) unclassified probably benign
FR4976:Ermn UTSW 2 57,938,100 (GRCm39) unclassified probably benign
FR4976:Ermn UTSW 2 57,938,092 (GRCm39) unclassified probably benign
R0827:Ermn UTSW 2 57,938,263 (GRCm39) missense probably damaging 1.00
R1655:Ermn UTSW 2 57,942,596 (GRCm39) missense probably benign 0.01
R1799:Ermn UTSW 2 57,938,249 (GRCm39) missense probably benign 0.06
R5691:Ermn UTSW 2 57,937,776 (GRCm39) missense probably damaging 1.00
R6311:Ermn UTSW 2 57,941,771 (GRCm39) missense probably damaging 1.00
R6704:Ermn UTSW 2 57,938,046 (GRCm39) missense possibly damaging 0.95
R7444:Ermn UTSW 2 57,938,079 (GRCm39) unclassified probably benign
R9217:Ermn UTSW 2 57,938,010 (GRCm39) missense probably damaging 1.00
RF028:Ermn UTSW 2 57,938,078 (GRCm39) unclassified probably benign
RF031:Ermn UTSW 2 57,938,078 (GRCm39) unclassified probably benign
Posted On 2016-08-02