Incidental Mutation 'R8917:Erh'
ID 679015
Institutional Source Beutler Lab
Gene Symbol Erh
Ensembl Gene ENSMUSG00000021131
Gene Name ERH mRNA splicing and mitosis factor
Synonyms Prei1, Mer
MMRRC Submission 068704-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R8917 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 80680799-80690616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80684282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 65 (A65E)
Ref Sequence ENSEMBL: ENSMUSP00000021559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021559] [ENSMUST00000166931] [ENSMUST00000218364] [ENSMUST00000218740]
AlphaFold P84089
PDB Structure Solution Structure of Mouse ER [SOLUTION NMR]
Crystal structure of enhancer of rudimentary homologue (ERH) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000021559
AA Change: A65E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000021559
Gene: ENSMUSG00000021131
AA Change: A65E

DomainStartEndE-ValueType
Pfam:ER 1 103 9.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166931
AA Change: A84E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000129620
Gene: ENSMUSG00000021131
AA Change: A84E

DomainStartEndE-ValueType
Pfam:ER 21 118 4.6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218364
AA Change: A65E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000218740
AA Change: A65E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610528J11Rik A G 4: 118,386,490 (GRCm39) M1V probably null Het
Acss3 T C 10: 106,773,124 (GRCm39) S621G probably benign Het
Adam1a C T 5: 121,657,145 (GRCm39) R716Q probably benign Het
Ankrd26 G T 6: 118,535,902 (GRCm39) N177K probably damaging Het
Ankrd31 G A 13: 96,969,212 (GRCm39) V950I probably damaging Het
Ano4 A G 10: 88,788,160 (GRCm39) Y922H probably damaging Het
Axin2 A T 11: 108,822,341 (GRCm39) N298Y probably damaging Het
Celsr2 A T 3: 108,303,882 (GRCm39) M2392K probably benign Het
Coasy A G 11: 100,974,202 (GRCm39) S123G probably benign Het
Cracdl A G 1: 37,676,993 (GRCm39) V63A probably damaging Het
Ctla2a A T 13: 61,083,854 (GRCm39) M26K probably benign Het
Cts8 A T 13: 61,396,882 (GRCm39) probably benign Het
Cyp4a30b C A 4: 115,311,662 (GRCm39) S110* probably null Het
Eif2ak4 A G 2: 118,287,617 (GRCm39) Y1195C probably damaging Het
Exoc6 A G 19: 37,578,360 (GRCm39) D401G probably benign Het
Fmo1 A G 1: 162,663,773 (GRCm39) V252A probably benign Het
Furin T C 7: 80,048,437 (GRCm39) K28E probably benign Het
Gmip T A 8: 70,270,428 (GRCm39) F713I probably damaging Het
Hyal6 T C 6: 24,734,103 (GRCm39) L12P possibly damaging Het
Ido1 T C 8: 25,081,523 (GRCm39) N144D probably benign Het
Igsf10 T A 3: 59,226,888 (GRCm39) T2262S possibly damaging Het
Insrr T C 3: 87,718,276 (GRCm39) F923S probably benign Het
Kank1 G T 19: 25,386,928 (GRCm39) M200I probably damaging Het
Kctd15 A G 7: 34,341,508 (GRCm39) Y140H probably damaging Het
Kif3c T A 12: 3,416,690 (GRCm39) I237N probably damaging Het
Klhl26 T C 8: 70,905,455 (GRCm39) S152G possibly damaging Het
Lce1k C A 3: 92,714,097 (GRCm39) C29F unknown Het
Map1a A G 2: 121,131,791 (GRCm39) E869G possibly damaging Het
Mcmbp T C 7: 128,300,281 (GRCm39) E576G probably benign Het
Mrps22 A G 9: 98,476,163 (GRCm39) V231A probably benign Het
Myo1a C T 10: 127,551,534 (GRCm39) L697F possibly damaging Het
Ncapd3 T C 9: 26,999,297 (GRCm39) V1291A probably benign Het
Nherf4 T A 9: 44,160,141 (GRCm39) probably benign Het
Or9m1 A T 2: 87,733,307 (GRCm39) S238T possibly damaging Het
Pcdhb6 A G 18: 37,468,431 (GRCm39) T451A possibly damaging Het
Pi4ka C A 16: 17,130,310 (GRCm39) W1032L Het
Pkhd1l1 T A 15: 44,396,403 (GRCm39) I1975N probably benign Het
Pnpla6 T C 8: 3,567,637 (GRCm39) M115T possibly damaging Het
Poldip2 G A 11: 78,412,667 (GRCm39) R347Q probably damaging Het
Pramel18 G A 4: 101,768,935 (GRCm39) V429M probably benign Het
Rapgef6 C T 11: 54,582,392 (GRCm39) Q1440* probably null Het
Rtn3 A T 19: 7,434,105 (GRCm39) I629K possibly damaging Het
Selenov A G 7: 27,987,728 (GRCm39) F278L probably damaging Het
Skor2 G A 18: 76,948,504 (GRCm39) G742D probably damaging Het
Spata31d1c C T 13: 65,183,429 (GRCm39) P324S probably benign Het
Tbc1d14 A T 5: 36,676,682 (GRCm39) I403N probably damaging Het
Tekt3 A T 11: 62,978,052 (GRCm39) Q374L probably damaging Het
Tg T C 15: 66,645,332 (GRCm39) probably null Het
Thnsl2 T C 6: 71,116,927 (GRCm39) D75G probably benign Het
Tnr A T 1: 159,701,692 (GRCm39) K598* probably null Het
Tshr T A 12: 91,468,829 (GRCm39) probably benign Het
Uggt1 A G 1: 36,185,735 (GRCm39) S1483P Het
Usp42 T C 5: 143,701,695 (GRCm39) E776G Het
Vmn2r118 T C 17: 55,917,216 (GRCm39) E432G possibly damaging Het
Vmn2r-ps158 T C 7: 42,697,433 (GRCm39) I830T probably damaging Het
Zfhx4 A G 3: 5,464,159 (GRCm39) E1464G probably damaging Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zxdc A G 6: 90,359,305 (GRCm39) T646A probably benign Het
Other mutations in Erh
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2198:Erh UTSW 12 80,689,559 (GRCm39) unclassified probably benign
R4335:Erh UTSW 12 80,689,615 (GRCm39) missense probably benign 0.18
R7466:Erh UTSW 12 80,687,757 (GRCm39) missense probably benign 0.10
R7679:Erh UTSW 12 80,684,345 (GRCm39) missense probably benign 0.25
R8039:Erh UTSW 12 80,684,352 (GRCm39) missense probably damaging 1.00
R8912:Erh UTSW 12 80,684,282 (GRCm39) missense probably benign 0.01
R8914:Erh UTSW 12 80,684,282 (GRCm39) missense probably benign 0.01
R8918:Erh UTSW 12 80,684,282 (GRCm39) missense probably benign 0.01
R8968:Erh UTSW 12 80,684,282 (GRCm39) missense probably benign 0.01
R9557:Erh UTSW 12 80,689,571 (GRCm39) missense probably benign
Z1176:Erh UTSW 12 80,689,578 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GGACTATCCCACACAACGTG -3'
(R):5'- TCACAGAAATTAAAGTGGCCAGCC -3'

Sequencing Primer
(F):5'- ACAACGTGGAGCCCGTCTATC -3'
(R):5'- AGCCAGCAGTCCTTTTCCAGG -3'
Posted On 2021-08-02