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
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R7679 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 80634022-80644341 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80637571 bp (GRCm38)
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: 78,514,816 Y206D Het
Atm A T 9: 53,442,497 I2906N probably damaging Het
B4galnt4 T C 7: 141,067,765 V422A probably benign Het
Bod1l TTCAGGGATC TTC 5: 41,820,643 probably null Het
Ccar2 G A 14: 70,139,235 Q887* probably null Het
Cdh13 A G 8: 119,236,919 I413V probably benign Het
Cfap54 A G 10: 92,967,512 V1556A probably benign Het
Chchd7 A T 4: 3,941,297 N14Y probably damaging Het
Col24a1 C A 3: 145,399,355 T824N possibly damaging Het
Col6a3 A T 1: 90,811,751 Y859N possibly damaging Het
Dnaaf5 C T 5: 139,150,637 P131S unknown Het
Esm1 T A 13: 113,210,112 D90E probably damaging Het
Fbxo44 A G 4: 148,153,632 F213L probably benign Het
Flnc A G 6: 29,456,790 T2262A probably benign Het
Fmo9 T C 1: 166,667,489 Q281R probably benign Het
Gdpgp1 G T 7: 80,238,576 E118D probably benign Het
Gnas A T 2: 174,284,831 Q53L probably damaging Het
Gpr142 G A 11: 114,806,707 V360M possibly damaging Het
Grn A G 11: 102,433,069 D46G probably benign Het
H2-T10 A G 17: 36,119,324 F242L not run Het
Hgsnat T C 8: 25,954,637 T428A probably damaging Het
Hoxa9 A G 6: 52,224,308 I251T probably damaging Het
Inpp5f C T 7: 128,694,523 T866I possibly damaging Het
Itgb1 T A 8: 128,720,448 N481K probably damaging Het
Leng9 C A 7: 4,149,660 D6Y probably benign Het
Lox A C 18: 52,525,106 F332V possibly damaging Het
Lrp1 G T 10: 127,588,428 Y796* probably null Het
Lrrc32 G A 7: 98,499,687 G558D possibly damaging Het
Lrrk2 A G 15: 91,726,186 E707G possibly damaging Het
Matn4 A G 2: 164,389,658 *625R probably null Het
Mcur1 T A 13: 43,544,483 K314* probably null Het
Med1 G C 11: 98,156,061 P1303R unknown Het
Mgam T C 6: 40,643,046 L23P probably damaging Het
Muc6 G C 7: 141,637,746 P2338R probably damaging Het
Nfatc1 T C 18: 80,607,990 I936V probably benign Het
Nol11 T C 11: 107,173,316 S557G probably benign Het
Palb2 A G 7: 122,128,014 I211T probably benign Het
Pard3 T C 8: 127,371,846 V456A probably benign Het
Pax2 G A 19: 44,760,937 V40M probably damaging Het
Pik3cb T C 9: 99,088,607 K344E probably benign Het
Pik3r3 T A 4: 116,256,195 M45K probably benign Het
Plat G T 8: 22,772,232 G91W probably damaging Het
Pot1a A G 6: 25,771,634 V196A probably benign Het
Ppp1r32 T C 19: 10,482,254 T30A probably damaging Het
Prkdc T A 16: 15,831,319 I3719N probably damaging Het
Psg16 G A 7: 17,093,760 G123S probably damaging Het
Psme4 A G 11: 30,878,425 D1815G probably damaging Het
Rpe65 C T 3: 159,604,393 T101I probably damaging Het
Rpp25l A C 4: 41,712,326 C150G unknown Het
Serpina1b A T 12: 103,730,515 W212R probably damaging Het
Slc9a3 G A 13: 74,160,276 R466H possibly damaging Het
Sned1 T C 1: 93,236,038 L17P unknown Het
Speg C T 1: 75,406,315 T1056I probably damaging Het
Tada1 T C 1: 166,391,971 F281L probably benign Het
Tbcd G A 11: 121,603,708 V1032I probably benign Het
Tlr3 A T 8: 45,399,051 S270T probably benign Het
Txndc15 G T 13: 55,725,808 R327L probably damaging Het
Zfp169 G C 13: 48,498,383 L66V probably damaging Het
Zfp442 G T 2: 150,410,997 Y45* probably null Het
Zzef1 A G 11: 72,893,278 D2003G probably benign Het
Other mutations in Erh
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2198:Erh UTSW 12 80642785 unclassified probably benign
R4335:Erh UTSW 12 80642841 missense probably benign 0.18
R7466:Erh UTSW 12 80640983 missense probably benign 0.10
R8039:Erh UTSW 12 80637578 missense probably damaging 1.00
R8912:Erh UTSW 12 80637508 missense probably benign 0.01
R8914:Erh UTSW 12 80637508 missense probably benign 0.01
R8917:Erh UTSW 12 80637508 missense probably benign 0.01
R8918:Erh UTSW 12 80637508 missense probably benign 0.01
R8968:Erh UTSW 12 80637508 missense probably benign 0.01
R9557:Erh UTSW 12 80642797 missense probably benign
Z1176:Erh UTSW 12 80642804 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