Incidental Mutation 'R7679:Erh'
ID 592659
Institutional Source Beutler Lab
Gene Symbol Erh
Ensembl Gene ENSMUSG00000021131
Gene Name ERH mRNA splicing and mitosis factor
Synonyms Prei1, Mer
MMRRC Submission 045707-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R7679 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 80680799-80690616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80684345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 44 (N44S)
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: N44S

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021559
Gene: ENSMUSG00000021131
AA Change: N44S

DomainStartEndE-ValueType
Pfam:ER 1 103 9.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166931
AA Change: N63S

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129620
Gene: ENSMUSG00000021131
AA Change: N63S

DomainStartEndE-ValueType
Pfam:ER 21 118 4.6e-49 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218364
AA Change: N44S

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000218740
AA Change: N44S

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A C 14: 78,752,256 (GRCm39) Y206D Het
Atm A T 9: 53,353,797 (GRCm39) I2906N probably damaging Het
B4galnt4 T C 7: 140,647,678 (GRCm39) V422A probably benign Het
Bod1l TTCAGGGATC TTC 5: 41,977,986 (GRCm39) probably null Het
Ccar2 G A 14: 70,376,684 (GRCm39) Q887* probably null Het
Cdh13 A G 8: 119,963,658 (GRCm39) I413V probably benign Het
Cfap54 A G 10: 92,803,374 (GRCm39) V1556A probably benign Het
Chchd7 A T 4: 3,941,297 (GRCm39) N14Y probably damaging Het
Col24a1 C A 3: 145,105,110 (GRCm39) T824N possibly damaging Het
Col6a3 A T 1: 90,739,473 (GRCm39) Y859N possibly damaging Het
Dnaaf5 C T 5: 139,136,392 (GRCm39) P131S unknown Het
Esm1 T A 13: 113,346,646 (GRCm39) D90E probably damaging Het
Fbxo44 A G 4: 148,238,089 (GRCm39) F213L probably benign Het
Flnc A G 6: 29,456,789 (GRCm39) T2262A probably benign Het
Fmo9 T C 1: 166,495,058 (GRCm39) Q281R probably benign Het
Gdpgp1 G T 7: 79,888,324 (GRCm39) E118D probably benign Het
Gnas A T 2: 174,126,624 (GRCm39) Q53L probably damaging Het
Gpr142 G A 11: 114,697,533 (GRCm39) V360M possibly damaging Het
Grn A G 11: 102,323,895 (GRCm39) D46G probably benign Het
H2-T10 A G 17: 36,430,216 (GRCm39) F242L not run Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Hoxa9 A G 6: 52,201,288 (GRCm39) I251T probably damaging Het
Inpp5f C T 7: 128,296,247 (GRCm39) T866I possibly damaging Het
Itgb1 T A 8: 129,446,929 (GRCm39) N481K probably damaging Het
Leng9 C A 7: 4,152,659 (GRCm39) D6Y probably benign Het
Lox A C 18: 52,658,178 (GRCm39) F332V possibly damaging Het
Lrp1 G T 10: 127,424,297 (GRCm39) Y796* probably null Het
Lrrc32 G A 7: 98,148,894 (GRCm39) G558D possibly damaging Het
Lrrk2 A G 15: 91,610,389 (GRCm39) E707G possibly damaging Het
Matn4 A G 2: 164,231,578 (GRCm39) *625R probably null Het
Mcur1 T A 13: 43,697,959 (GRCm39) K314* probably null Het
Med1 G C 11: 98,046,887 (GRCm39) P1303R unknown Het
Mgam T C 6: 40,619,980 (GRCm39) L23P probably damaging Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Nfatc1 T C 18: 80,651,205 (GRCm39) I936V probably benign Het
Nol11 T C 11: 107,064,142 (GRCm39) S557G probably benign Het
Palb2 A G 7: 121,727,237 (GRCm39) I211T probably benign Het
Pard3 T C 8: 128,098,327 (GRCm39) V456A probably benign Het
Pax2 G A 19: 44,749,376 (GRCm39) V40M probably damaging Het
Pik3cb T C 9: 98,970,660 (GRCm39) K344E probably benign Het
Pik3r3 T A 4: 116,113,392 (GRCm39) M45K probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Pot1a A G 6: 25,771,633 (GRCm39) V196A probably benign Het
Prkdc T A 16: 15,649,183 (GRCm39) I3719N probably damaging Het
Psg16 G A 7: 16,827,685 (GRCm39) G123S probably damaging Het
Psme4 A G 11: 30,828,425 (GRCm39) D1815G probably damaging Het
Rpe65 C T 3: 159,310,030 (GRCm39) T101I probably damaging Het
Rpp25l A C 4: 41,712,326 (GRCm39) C150G unknown Het
Saxo4 T C 19: 10,459,618 (GRCm39) T30A probably damaging Het
Serpina1b A T 12: 103,696,774 (GRCm39) W212R probably damaging Het
Slc9a3 G A 13: 74,308,395 (GRCm39) R466H possibly damaging Het
Sned1 T C 1: 93,163,760 (GRCm39) L17P unknown Het
Speg C T 1: 75,382,959 (GRCm39) T1056I probably damaging Het
Tada1 T C 1: 166,219,540 (GRCm39) F281L probably benign Het
Tbcd G A 11: 121,494,534 (GRCm39) V1032I probably benign Het
Tlr3 A T 8: 45,852,088 (GRCm39) S270T probably benign Het
Txndc15 G T 13: 55,873,621 (GRCm39) R327L probably damaging Het
Zfp169 G C 13: 48,651,859 (GRCm39) L66V probably damaging Het
Zfp442 G T 2: 150,252,917 (GRCm39) Y45* probably null Het
Zzef1 A G 11: 72,784,104 (GRCm39) D2003G 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
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
R8917: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'- TCACGCTAGCAACTGCCAAG -3'
(R):5'- GTTCAACTGCAGGGGTTTGAAG -3'

Sequencing Primer
(F):5'- AAGCCCCTCATGCCTTCAG -3'
(R):5'- CTGCAGGGGTTTGAAGTAACC -3'
Posted On 2019-11-12