Incidental Mutation 'R0892:Ell2'
ID 83544
Institutional Source Beutler Lab
Gene Symbol Ell2
Ensembl Gene ENSMUSG00000001542
Gene Name elongation factor for RNA polymerase II 2
Synonyms
MMRRC Submission 039055-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0892 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 75855603-75920480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75911758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 348 (N348I)
Ref Sequence ENSEMBL: ENSMUSP00000001583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001583] [ENSMUST00000220572] [ENSMUST00000222194] [ENSMUST00000222853]
AlphaFold Q3UKU1
Predicted Effect probably damaging
Transcript: ENSMUST00000001583
AA Change: N348I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: N348I

DomainStartEndE-ValueType
Pfam:ELL 11 291 2.4e-108 PFAM
low complexity region 362 401 N/A INTRINSIC
low complexity region 451 476 N/A INTRINSIC
Pfam:Occludin_ELL 531 632 2e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104261
Predicted Effect probably benign
Transcript: ENSMUST00000220572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221979
Predicted Effect probably benign
Transcript: ENSMUST00000222194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222564
Predicted Effect probably benign
Transcript: ENSMUST00000222853
Predicted Effect probably benign
Transcript: ENSMUST00000222892
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,248,305 (GRCm39) V2684E probably benign Het
Ankub1 T C 3: 57,597,800 (GRCm39) R57G probably benign Het
Bcr C T 10: 74,960,895 (GRCm39) A442V probably benign Het
Cd46 T C 1: 194,764,920 (GRCm39) T226A possibly damaging Het
Dmkn C T 7: 30,466,829 (GRCm39) R114C probably damaging Het
Epg5 T A 18: 78,011,843 (GRCm39) I830N possibly damaging Het
Gm15737 C T 6: 92,856,721 (GRCm39) probably benign Het
Gpa33 A G 1: 165,985,211 (GRCm39) N182S probably damaging Het
Gpr37 A T 6: 25,688,206 (GRCm39) I297N probably damaging Het
Hpse2 T C 19: 43,376,585 (GRCm39) K56E probably benign Het
Lamc1 G A 1: 153,208,000 (GRCm39) H96Y possibly damaging Het
Mapre2 A G 18: 23,991,200 (GRCm39) N189S probably benign Het
Msmo1 T A 8: 65,175,587 (GRCm39) I148F possibly damaging Het
Myh6 T C 14: 55,184,511 (GRCm39) T1607A probably benign Het
Oog2 A T 4: 143,923,069 (GRCm39) T445S probably benign Het
Or5b122 T A 19: 13,562,881 (GRCm39) V28D probably damaging Het
Plag1 G A 4: 3,904,532 (GRCm39) Q220* probably null Het
Pom121l2 A G 13: 22,166,644 (GRCm39) E305G possibly damaging Het
Prorp A G 12: 55,429,033 (GRCm39) probably null Het
Sbsn A T 7: 30,454,244 (GRCm39) Q50L possibly damaging Het
Slc25a42 A G 8: 70,644,597 (GRCm39) L34P probably damaging Het
Sptbn1 C A 11: 30,092,201 (GRCm39) R521S probably damaging Het
St14 A T 9: 31,011,724 (GRCm39) V394E probably benign Het
Tatdn3 T C 1: 190,795,002 (GRCm39) D18G probably benign Het
Trappc8 A G 18: 20,964,665 (GRCm39) probably null Het
Other mutations in Ell2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Ell2 APN 13 75,904,409 (GRCm39) missense probably damaging 1.00
IGL01315:Ell2 APN 13 75,910,351 (GRCm39) unclassified probably benign
IGL01446:Ell2 APN 13 75,910,110 (GRCm39) missense probably benign 0.02
IGL02691:Ell2 APN 13 75,904,605 (GRCm39) missense probably damaging 0.97
IGL02963:Ell2 APN 13 75,917,762 (GRCm39) missense possibly damaging 0.48
IGL03035:Ell2 APN 13 75,911,767 (GRCm39) nonsense probably null
enhancement UTSW 13 75,918,854 (GRCm39) missense probably damaging 1.00
stilts UTSW 13 75,912,105 (GRCm39) nonsense probably null
PIT4469001:Ell2 UTSW 13 75,910,011 (GRCm39) missense probably damaging 0.99
R0123:Ell2 UTSW 13 75,910,259 (GRCm39) splice site probably benign
R0321:Ell2 UTSW 13 75,910,007 (GRCm39) missense probably damaging 1.00
R0594:Ell2 UTSW 13 75,898,112 (GRCm39) missense probably damaging 1.00
R1078:Ell2 UTSW 13 75,894,538 (GRCm39) splice site probably benign
R1696:Ell2 UTSW 13 75,917,677 (GRCm39) missense probably damaging 1.00
R2325:Ell2 UTSW 13 75,917,745 (GRCm39) missense probably damaging 1.00
R2886:Ell2 UTSW 13 75,911,904 (GRCm39) missense probably damaging 1.00
R3760:Ell2 UTSW 13 75,910,281 (GRCm39) missense probably benign 0.37
R4206:Ell2 UTSW 13 75,910,067 (GRCm39) missense probably damaging 1.00
R4632:Ell2 UTSW 13 75,917,693 (GRCm39) missense possibly damaging 0.84
R5068:Ell2 UTSW 13 75,911,737 (GRCm39) missense probably benign 0.00
R6980:Ell2 UTSW 13 75,904,495 (GRCm39) missense probably null
R6983:Ell2 UTSW 13 75,910,006 (GRCm39) missense probably damaging 1.00
R6984:Ell2 UTSW 13 75,910,006 (GRCm39) missense probably damaging 1.00
R6986:Ell2 UTSW 13 75,910,006 (GRCm39) missense probably damaging 1.00
R7073:Ell2 UTSW 13 75,910,006 (GRCm39) missense probably damaging 1.00
R7074:Ell2 UTSW 13 75,910,006 (GRCm39) missense probably damaging 1.00
R7473:Ell2 UTSW 13 75,898,154 (GRCm39) missense probably damaging 1.00
R7590:Ell2 UTSW 13 75,918,854 (GRCm39) missense probably damaging 1.00
R7901:Ell2 UTSW 13 75,912,105 (GRCm39) nonsense probably null
R8855:Ell2 UTSW 13 75,917,793 (GRCm39) missense probably damaging 1.00
R8866:Ell2 UTSW 13 75,917,793 (GRCm39) missense probably damaging 1.00
R9413:Ell2 UTSW 13 75,917,705 (GRCm39) missense
R9517:Ell2 UTSW 13 75,912,106 (GRCm39) missense possibly damaging 0.89
R9581:Ell2 UTSW 13 75,912,148 (GRCm39) missense probably benign 0.04
RF018:Ell2 UTSW 13 75,911,727 (GRCm39) missense probably damaging 1.00
Z1088:Ell2 UTSW 13 75,909,992 (GRCm39) critical splice acceptor site probably benign
Z1176:Ell2 UTSW 13 75,918,808 (GRCm39) missense probably damaging 1.00
Z1176:Ell2 UTSW 13 75,904,571 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAAACACTCTGGCACTGTTCCTCC -3'
(R):5'- TGTCAACAGGCAGGTCTTGAGTCC -3'

Sequencing Primer
(F):5'- gtttgagtgtgtgtgtgagtg -3'
(R):5'- TACAGTCTGAGGAGGATTGGAGAC -3'
Posted On 2013-11-08