Incidental Mutation 'R6983:Ell2'
ID 542808
Institutional Source Beutler Lab
Gene Symbol Ell2
Ensembl Gene ENSMUSG00000001542
Gene Name elongation factor for RNA polymerase II 2
Synonyms
MMRRC Submission 045090-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6983 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 75855603-75920480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75910006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 119 (L119M)
Ref Sequence ENSEMBL: ENSMUSP00000152427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001583] [ENSMUST00000220572] [ENSMUST00000222194] [ENSMUST00000222853]
AlphaFold Q3UKU1
Predicted Effect probably damaging
Transcript: ENSMUST00000001583
AA Change: L251M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: L251M

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 probably benign
Transcript: ENSMUST00000220572
Predicted Effect probably benign
Transcript: ENSMUST00000222194
Predicted Effect probably damaging
Transcript: ENSMUST00000222853
AA Change: L119M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,953,686 (GRCm39) V530A probably benign Het
Adgrg6 T C 10: 14,307,439 (GRCm39) N816D probably damaging Het
Aebp2 T C 6: 140,583,389 (GRCm39) F288L possibly damaging Het
Afdn T C 17: 14,101,583 (GRCm39) S1024P probably damaging Het
Akap6 A C 12: 52,934,436 (GRCm39) K643Q probably damaging Het
Atg2a A T 19: 6,310,070 (GRCm39) D1751V probably damaging Het
Best2 T A 8: 85,736,405 (GRCm39) I253F probably benign Het
Bmp1 G T 14: 70,745,647 (GRCm39) P55T probably damaging Het
C1s1 C A 6: 124,517,855 (GRCm39) V42F possibly damaging Het
Ccdc115 A G 1: 34,478,122 (GRCm39) probably null Het
Cdc42bpg C T 19: 6,371,698 (GRCm39) P1326S probably damaging Het
Cdhr3 G A 12: 33,092,379 (GRCm39) T744I probably benign Het
Cit T G 5: 116,132,150 (GRCm39) L1745R probably damaging Het
Commd6 A T 14: 101,874,488 (GRCm39) S39T probably damaging Het
Crot T G 5: 9,028,280 (GRCm39) Y223S probably benign Het
Crybg1 G T 10: 43,875,338 (GRCm39) A590D probably damaging Het
Cwf19l2 G A 9: 3,477,817 (GRCm39) E841K probably damaging Het
Dennd4c T C 4: 86,717,730 (GRCm39) Y576H probably damaging Het
Diaph1 A T 18: 38,022,822 (GRCm39) V749E probably damaging Het
F5 A T 1: 164,021,698 (GRCm39) D1391V probably damaging Het
Foxf2 T A 13: 31,811,180 (GRCm39) M373K probably benign Het
Fstl1 A T 16: 37,651,980 (GRCm39) E287D probably benign Het
Gltpd2 T C 11: 70,411,110 (GRCm39) Y134H probably damaging Het
Hemgn T A 4: 46,395,997 (GRCm39) H413L possibly damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Hykk T C 9: 54,853,793 (GRCm39) S372P probably benign Het
Inava A G 1: 136,147,894 (GRCm39) S353P possibly damaging Het
Ints10 T C 8: 69,246,703 (GRCm39) V11A probably damaging Het
Khdrbs1 A G 4: 129,614,635 (GRCm39) V306A probably benign Het
Lamtor2 G A 3: 88,460,146 (GRCm39) Q9* probably null Het
Lonp2 T A 8: 87,350,876 (GRCm39) V22E probably damaging Het
Mad1l1 T C 5: 140,179,739 (GRCm39) E383G probably damaging Het
Man2b1 T A 8: 85,817,700 (GRCm39) probably null Het
Mtch1 T C 17: 29,557,750 (GRCm39) I243V probably damaging Het
Myo18a T A 11: 77,736,341 (GRCm39) M1546K probably benign Het
Ntf3 T C 6: 126,078,808 (GRCm39) T233A probably damaging Het
Omg T C 11: 79,392,764 (GRCm39) S365G probably benign Het
Or52ad1 C T 7: 102,996,022 (GRCm39) V38I probably benign Het
Otol1 T A 3: 69,935,374 (GRCm39) N455K probably damaging Het
Pakap T A 4: 57,709,973 (GRCm39) V306D probably damaging Het
Pde4dip A T 3: 97,625,552 (GRCm39) Y1349N probably damaging Het
Pitpnm2 A G 5: 124,271,469 (GRCm39) L368P probably damaging Het
Pnpla8 T A 12: 44,330,030 (GRCm39) I194K possibly damaging Het
Podn T C 4: 107,881,470 (GRCm39) probably null Het
Potefam1 A G 2: 111,058,595 (GRCm39) probably null Het
Pramel6 A T 2: 87,339,923 (GRCm39) E229V possibly damaging Het
Ptpro C T 6: 137,426,915 (GRCm39) P262L probably damaging Het
Rnf122 A T 8: 31,608,488 (GRCm39) T19S probably benign Het
Shank2 T A 7: 143,635,585 (GRCm39) Y320N possibly damaging Het
Slc2a9 A C 5: 38,549,064 (GRCm39) I243S probably damaging Het
Slc5a6 A T 5: 31,197,749 (GRCm39) M130K probably benign Het
Stx5a A G 19: 8,732,533 (GRCm39) probably benign Het
Tbr1 G T 2: 61,642,079 (GRCm39) G185V probably damaging Het
Tg A G 15: 66,565,207 (GRCm39) D1183G probably benign Het
Thbs1 A T 2: 117,950,433 (GRCm39) I689F probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trub2 A T 2: 29,677,796 (GRCm39) probably benign Het
Ttn A G 2: 76,597,306 (GRCm39) V19869A probably damaging Het
Tufm T C 7: 126,088,607 (GRCm39) V303A possibly damaging Het
Vezf1 T C 11: 87,964,145 (GRCm39) I99T possibly damaging Het
Vmn2r1 T C 3: 63,989,118 (GRCm39) V19A probably benign Het
Xpc C T 6: 91,481,005 (GRCm39) R289K probably damaging Het
Zfp811 T A 17: 33,016,406 (GRCm39) K545* probably null Het
Zmiz2 G A 11: 6,352,413 (GRCm39) D623N probably damaging 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
R0892:Ell2 UTSW 13 75,911,758 (GRCm39) missense probably damaging 0.97
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
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'- GGTAAACATATGAAGCAACCTGAG -3'
(R):5'- TCTCGTTTCCACCTCAACAGTCA -3'

Sequencing Primer
(F):5'- CTTTATGCACACATGTAGCAGAGG -3'
(R):5'- GTCAAACAACACTTATTTGCACC -3'
Posted On 2018-11-28