Incidental Mutation 'IGL01138:Ermn'
ID 50604
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 # IGL01138
Quality Score
Status
Chromosome 2
Chromosomal Location 57935125-57942876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57942707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 8 (L8M)
Ref Sequence ENSEMBL: ENSMUSP00000088458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090940]
AlphaFold Q5EBJ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000090940
AA Change: L8M

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088458
Gene: ENSMUSG00000026830
AA Change: L8M

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,002,673 (GRCm39) V27A probably benign Het
Abcg5 T A 17: 84,972,275 (GRCm39) R499S possibly damaging Het
Adamts13 T C 2: 26,873,054 (GRCm39) S341P probably damaging Het
Adgrg1 T A 8: 95,730,085 (GRCm39) C96S probably damaging Het
Arhgap44 A G 11: 64,932,275 (GRCm39) F215S probably damaging Het
Arhgef25 A G 10: 127,020,039 (GRCm39) F400L probably damaging Het
Baz1a T C 12: 54,977,110 (GRCm39) E384G probably damaging Het
Col12a1 T C 9: 79,585,335 (GRCm39) D1314G probably damaging Het
Col6a3 T A 1: 90,735,232 (GRCm39) I806F probably damaging Het
Coro1c G A 5: 113,990,222 (GRCm39) probably benign Het
Dnmt3b A T 2: 153,503,361 (GRCm39) D4V probably benign Het
F13b T A 1: 139,444,950 (GRCm39) N533K probably damaging Het
Fam171a1 T C 2: 3,203,657 (GRCm39) V93A possibly damaging Het
Gpr107 T A 2: 31,062,028 (GRCm39) L152Q probably benign Het
Guca1a C A 17: 47,711,309 (GRCm39) E12D probably damaging Het
Igtp A G 11: 58,096,970 (GRCm39) N47S possibly damaging Het
Lratd2 T A 15: 60,694,967 (GRCm39) I260F probably damaging Het
Lrrc8e A G 8: 4,284,084 (GRCm39) N103S probably damaging Het
Lsmem1 A G 12: 40,230,698 (GRCm39) L68P probably damaging Het
Maml3 A G 3: 51,597,979 (GRCm39) S902P possibly damaging Het
Mkln1 A T 6: 31,409,925 (GRCm39) N188Y probably damaging Het
Mlxip C T 5: 123,588,219 (GRCm39) R771W probably damaging Het
Myf6 T C 10: 107,330,259 (GRCm39) R103G probably damaging Het
Ncam2 T A 16: 81,314,467 (GRCm39) I481K probably damaging Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Nup205 G T 6: 35,185,019 (GRCm39) E813* probably null Het
Or13c7c A G 4: 43,835,617 (GRCm39) L291P probably damaging Het
Plekhg5 C T 4: 152,191,435 (GRCm39) R410W probably damaging Het
Pnma8b C A 7: 16,679,088 (GRCm39) T24K unknown Het
Polq A T 16: 36,866,231 (GRCm39) Y476F possibly damaging Het
Prkd2 T C 7: 16,582,736 (GRCm39) S200P probably damaging Het
Rif1 C A 2: 52,001,534 (GRCm39) L1663I probably damaging Het
Serpina5 A G 12: 104,070,003 (GRCm39) Y300C possibly damaging Het
Shroom4 T C X: 6,497,257 (GRCm39) S806P probably damaging Het
Sirpa T C 2: 129,472,085 (GRCm39) V290A probably damaging Het
Slc25a47 C T 12: 108,821,948 (GRCm39) R246C probably damaging Het
Slc9a6 A G X: 55,668,791 (GRCm39) D199G probably damaging Het
Smarca5 T A 8: 81,427,705 (GRCm39) K1048M possibly damaging Het
Sos2 C T 12: 69,663,623 (GRCm39) probably benign Het
Trpm5 T A 7: 142,628,306 (GRCm39) M990L probably benign Het
Vmn2r99 A T 17: 19,602,885 (GRCm39) T547S probably damaging Het
Vps13b T C 15: 35,446,916 (GRCm39) probably benign Het
Zfp994 G A 17: 22,421,649 (GRCm39) probably benign Het
Other mutations in Ermn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03354:Ermn APN 2 57,942,634 (GRCm39) missense probably benign 0.26
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 2013-06-21