Incidental Mutation 'R2198:Erh'
ID 238518
Institutional Source Beutler Lab
Gene Symbol Erh
Ensembl Gene ENSMUSG00000021131
Gene Name ERH mRNA splicing and mitosis factor
Synonyms Prei1, Mer
MMRRC Submission 040200-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R2198 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 80680799-80690616 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 80689559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021559] [ENSMUST00000085245] [ENSMUST00000166931] [ENSMUST00000217889] [ENSMUST00000218364] [ENSMUST00000218740] [ENSMUST00000219405] [ENSMUST00000219706]
AlphaFold P84089
Predicted Effect probably benign
Transcript: ENSMUST00000021559
SMART Domains Protein: ENSMUSP00000021559
Gene: ENSMUSG00000021131

DomainStartEndE-ValueType
Pfam:ER 1 103 9.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085245
SMART Domains Protein: ENSMUSP00000082343
Gene: ENSMUSG00000048833

DomainStartEndE-ValueType
Pfam:Zip 4 146 2.6e-13 PFAM
Pfam:Zip 132 303 2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166931
SMART Domains Protein: ENSMUSP00000129620
Gene: ENSMUSG00000021131

DomainStartEndE-ValueType
Pfam:ER 21 118 4.6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218336
Predicted Effect probably benign
Transcript: ENSMUST00000218364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218440
Predicted Effect probably benign
Transcript: ENSMUST00000218740
Predicted Effect probably benign
Transcript: ENSMUST00000219405
Predicted Effect probably benign
Transcript: ENSMUST00000219706
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a T C 14: 66,875,385 (GRCm39) I120T probably damaging Het
Akr1c21 C T 13: 4,627,464 (GRCm39) P186L probably damaging Het
Alpk2 T C 18: 65,483,255 (GRCm39) K251R probably benign Het
Ank2 T C 3: 126,728,226 (GRCm39) E789G possibly damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cacna2d4 T C 6: 119,324,220 (GRCm39) probably benign Het
Carf G A 1: 60,180,643 (GRCm39) R355H probably damaging Het
Cdh20 A T 1: 104,875,047 (GRCm39) probably null Het
Celf6 G T 9: 59,510,622 (GRCm39) L169F possibly damaging Het
Cep295nl A T 11: 118,223,419 (GRCm39) I475N probably benign Het
Chdh T A 14: 29,753,489 (GRCm39) S133T possibly damaging Het
Cnot6l C T 5: 96,227,800 (GRCm39) D478N possibly damaging Het
Ctnna3 C A 10: 64,838,524 (GRCm39) T867K probably benign Het
Ctse T G 1: 131,600,185 (GRCm39) Y311* probably null Het
Ddx60 T A 8: 62,411,097 (GRCm39) M453K possibly damaging Het
Dnah9 A G 11: 65,750,325 (GRCm39) F3927L possibly damaging Het
Dsg4 T C 18: 20,594,499 (GRCm39) S543P probably benign Het
Dspp A T 5: 104,323,567 (GRCm39) T237S probably benign Het
Eml6 T G 11: 29,800,935 (GRCm39) H357P probably benign Het
Epha3 T C 16: 63,664,507 (GRCm39) I38V possibly damaging Het
Erap1 C T 13: 74,794,806 (GRCm39) T155I probably damaging Het
F5 A T 1: 164,034,603 (GRCm39) K1834M probably damaging Het
Fyn A G 10: 39,405,541 (GRCm39) E269G probably benign Het
Gm4884 A G 7: 40,690,229 (GRCm39) T42A probably benign Het
Grm1 T G 10: 10,658,520 (GRCm39) R323S probably damaging Het
Gstt4 T C 10: 75,658,235 (GRCm39) D8G probably damaging Het
Gvin-ps3 T A 7: 105,682,758 (GRCm39) M166L probably benign Het
Ldlr A G 9: 21,643,698 (GRCm39) D94G probably damaging Het
Mrpl54 G A 10: 81,101,575 (GRCm39) probably null Het
Naip2 A T 13: 100,289,100 (GRCm39) F1210Y probably damaging Het
Nifk A G 1: 118,257,130 (GRCm39) R88G probably benign Het
Nlgn1 C T 3: 25,487,925 (GRCm39) M803I probably damaging Het
Or2r11 A G 6: 42,437,950 (GRCm39) M1T probably null Het
Or2y16 C T 11: 49,334,786 (GRCm39) S36F probably benign Het
Or6c88 T A 10: 129,406,915 (GRCm39) Y130* probably null Het
Or8g18 G A 9: 39,149,048 (GRCm39) T224I possibly damaging Het
Pip4k2a A T 2: 18,852,466 (GRCm39) M272K probably damaging Het
Ppp1cb G T 5: 32,640,704 (GRCm39) C139F probably damaging Het
Rad23b G A 4: 55,385,497 (GRCm39) G345R possibly damaging Het
Shc4 A T 2: 125,481,266 (GRCm39) V548E possibly damaging Het
Slc26a9 A G 1: 131,691,001 (GRCm39) probably benign Het
Slc8a1 T A 17: 81,715,685 (GRCm39) K783* probably null Het
Sobp A C 10: 42,898,520 (GRCm39) I355S possibly damaging Het
Thbs4 A G 13: 92,899,779 (GRCm39) Y491H possibly damaging Het
Tle2 T C 10: 81,426,147 (GRCm39) V727A probably damaging Het
Tmprss9 C T 10: 80,723,293 (GRCm39) P251L probably damaging Het
Tnks A T 8: 35,315,803 (GRCm39) D994E probably benign Het
Tnks C T 8: 35,340,221 (GRCm39) D466N probably benign Het
Tonsl A G 15: 76,520,872 (GRCm39) F394L probably benign Het
Trpa1 T A 1: 14,980,970 (GRCm39) Y144F probably benign Het
Usp22 A G 11: 61,050,163 (GRCm39) F324S probably damaging Het
Vmn1r78 G T 7: 11,886,487 (GRCm39) V33F probably benign Het
Wdr81 C T 11: 75,336,907 (GRCm39) R1494Q probably benign Het
Wdr87-ps G T 7: 29,226,697 (GRCm39) noncoding transcript Het
Zc3h14 G A 12: 98,719,068 (GRCm39) M144I probably damaging Het
Zc3h14 G A 12: 98,719,069 (GRCm39) V145M possibly damaging Het
Zfp82 T C 7: 29,756,936 (GRCm39) T49A probably benign Het
Other mutations in Erh
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- GACAAGCTATTCATTCTTTGCCAC -3'
(R):5'- GAAAAGAGACTCCAGGGTCCTG -3'

Sequencing Primer
(F):5'- CACCTGCTCCAAATATTTCC -3'
(R):5'- CATGCCTTCTGTAAGAGTAGCACG -3'
Posted On 2014-10-02