Incidental Mutation 'R8100:Ell3'
ID 630438
Institutional Source Beutler Lab
Gene Symbol Ell3
Ensembl Gene ENSMUSG00000027246
Gene Name elongation factor RNA polymerase II-like 3
Synonyms
MMRRC Submission 067532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8100 (G1)
Quality Score 217.468
Status Not validated
Chromosome 2
Chromosomal Location 121269508-121273082 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) TCTCCTC to TCTC at 121269937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000028679] [ENSMUST00000028683] [ENSMUST00000116432]
AlphaFold Q80VR2
Predicted Effect probably benign
Transcript: ENSMUST00000028679
SMART Domains Protein: ENSMUSP00000028679
Gene: ENSMUSG00000027246

DomainStartEndE-ValueType
Pfam:ELL 15 123 2e-13 PFAM
low complexity region 240 261 N/A INTRINSIC
low complexity region 269 281 N/A INTRINSIC
Pfam:Occludin_ELL 289 390 3.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028683
SMART Domains Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Thioredoxin 26 131 5.2e-36 PFAM
Pfam:Thioredoxin_6 160 355 2e-29 PFAM
Pfam:Thioredoxin 377 483 9.5e-33 PFAM
low complexity region 487 503 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116432
SMART Domains Protein: ENSMUSP00000112133
Gene: ENSMUSG00000027246

DomainStartEndE-ValueType
Pfam:ELL 5 247 1.3e-43 PFAM
low complexity region 269 281 N/A INTRINSIC
Pfam:Occludin_ELL 289 390 1.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140752
SMART Domains Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 2 78 7.3e-14 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G A 14: 56,009,722 (GRCm39) Q777* probably null Het
Art1 T C 7: 101,756,405 (GRCm39) S199P probably damaging Het
Cadps2 A T 6: 23,838,808 (GRCm39) M110K probably damaging Het
Cdk13 C T 13: 17,978,101 (GRCm39) R379Q unknown Het
Cdk7 T C 13: 100,842,925 (GRCm39) I272V probably benign Het
Cep350 T C 1: 155,829,148 (GRCm39) D192G probably damaging Het
Chrna6 C T 8: 27,903,844 (GRCm39) probably benign Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Ckmt1 T A 2: 121,191,258 (GRCm39) D223E probably benign Het
Col6a5 C T 9: 105,755,839 (GRCm39) R2195H probably damaging Het
D430041D05Rik C T 2: 104,087,287 (GRCm39) R563H probably benign Het
Defa29 A T 8: 21,816,990 (GRCm39) M1K probably null Het
Dnah11 A G 12: 117,930,368 (GRCm39) S3326P probably damaging Het
Dsg3 A G 18: 20,662,028 (GRCm39) D431G probably benign Het
Fbln1 T A 15: 85,169,357 (GRCm39) F699I probably damaging Het
Fndc1 A G 17: 7,990,685 (GRCm39) S1004P unknown Het
Gpr15 T A 16: 58,538,076 (GRCm39) T338S probably benign Het
Grin2d T C 7: 45,483,171 (GRCm39) Y1002C unknown Het
Hk2 C T 6: 82,707,859 (GRCm39) M703I probably benign Het
Ifi213 A C 1: 173,422,748 (GRCm39) L39R probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lama2 C A 10: 26,917,113 (GRCm39) A2271S probably benign Het
Lmo7 A T 14: 102,137,899 (GRCm39) Q867L probably benign Het
Loxhd1 T A 18: 77,492,512 (GRCm39) S1427T possibly damaging Het
Lzts1 A G 8: 69,593,397 (GRCm39) V70A probably damaging Het
Mocs3 A G 2: 168,073,257 (GRCm39) T235A possibly damaging Het
Myo15a G A 11: 60,408,016 (GRCm39) R3168H probably damaging Het
Ndc1 A G 4: 107,240,802 (GRCm39) D260G possibly damaging Het
Nfam1 T C 15: 82,900,730 (GRCm39) D44G probably damaging Het
Or4a47 G A 2: 89,666,029 (GRCm39) Q87* probably null Het
Osbpl10 G A 9: 114,996,322 (GRCm39) R128H probably benign Het
Otx1 C A 11: 21,949,392 (GRCm39) V29L probably benign Het
Pogk A T 1: 166,229,511 (GRCm39) D113E possibly damaging Het
Ptgs2 T C 1: 149,978,472 (GRCm39) F195L probably damaging Het
Ptpn21 T A 12: 98,648,881 (GRCm39) E925V possibly damaging Het
Ranbp2 T C 10: 58,326,470 (GRCm39) F2714L possibly damaging Het
Rbm20 T G 19: 53,839,744 (GRCm39) I911S possibly damaging Het
Rwdd2b A G 16: 87,233,509 (GRCm39) V197A possibly damaging Het
Sel1l2 C G 2: 140,117,329 (GRCm39) A181P probably damaging Het
Sf1 A G 19: 6,422,368 (GRCm39) E234G possibly damaging Het
Skint2 A C 4: 112,483,197 (GRCm39) T201P probably damaging Het
Sra1 C T 18: 36,809,948 (GRCm39) R199H probably damaging Het
Svs5 A G 2: 164,079,712 (GRCm39) M65T probably benign Het
Tgif1 C A 17: 71,153,544 (GRCm39) probably benign Het
Tmem184c A G 8: 78,331,411 (GRCm39) W113R possibly damaging Het
Tmem30a T C 9: 79,681,432 (GRCm39) R282G probably benign Het
Top1 T A 2: 160,540,155 (GRCm39) Y244* probably null Het
Trank1 A G 9: 111,221,861 (GRCm39) Y2866C probably damaging Het
Trim7 A C 11: 48,740,346 (GRCm39) I148L probably damaging Het
Triml1 T A 8: 43,591,717 (GRCm39) M214L probably benign Het
Usp30 T G 5: 114,249,245 (GRCm39) V183G probably damaging Het
Vmn1r175 G A 7: 23,508,012 (GRCm39) S205F probably damaging Het
Zbtb32 CTTG CTTGTTG 7: 30,290,946 (GRCm39) probably benign Het
Zfp108 T A 7: 23,960,602 (GRCm39) C398S probably damaging Het
Zfp592 T G 7: 80,673,940 (GRCm39) D301E probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Ell3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Ell3 APN 2 121,270,761 (GRCm39) missense probably benign 0.02
IGL01348:Ell3 APN 2 121,272,277 (GRCm39) missense probably damaging 1.00
IGL01710:Ell3 APN 2 121,271,993 (GRCm39) missense probably damaging 0.99
K7371:Ell3 UTSW 2 121,269,969 (GRCm39) missense probably damaging 1.00
R1443:Ell3 UTSW 2 121,269,946 (GRCm39) missense probably damaging 1.00
R1880:Ell3 UTSW 2 121,270,792 (GRCm39) missense probably benign 0.28
R6226:Ell3 UTSW 2 121,272,258 (GRCm39) missense probably damaging 0.96
R7417:Ell3 UTSW 2 121,270,891 (GRCm39) missense probably benign 0.45
R7733:Ell3 UTSW 2 121,273,001 (GRCm39) missense possibly damaging 0.90
R7798:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R7799:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8097:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8098:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8099:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- AGGAGATGATACCATGCCCAC -3'
(R):5'- TGCTGGAAGACAAGATAGTCC -3'

Sequencing Primer
(F):5'- ACTTGGTCACTGTGGATG -3'
(R):5'- TCCAGGAGTATAAAAAGTTCAGAAAG -3'
Posted On 2020-06-30