Incidental Mutation 'IGL01829:Elf2'
ID 154724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elf2
Ensembl Gene ENSMUSG00000037174
Gene Name E74-like factor 2
Synonyms 2610036A20Rik, NERF-2, A230104O07Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # IGL01829
Quality Score
Status
Chromosome 3
Chromosomal Location 51160141-51248084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51215521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 63 (M63T)
Ref Sequence ENSEMBL: ENSMUSP00000139358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062009] [ENSMUST00000091144] [ENSMUST00000163748] [ENSMUST00000183338] [ENSMUST00000183463] [ENSMUST00000194641]
AlphaFold Q9JHC9
Predicted Effect possibly damaging
Transcript: ENSMUST00000062009
AA Change: M63T

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174
AA Change: M63T

DomainStartEndE-ValueType
Pfam:Elf-1_N 2 108 2.2e-37 PFAM
low complexity region 130 142 N/A INTRINSIC
low complexity region 160 169 N/A INTRINSIC
ETS 195 282 1.28e-51 SMART
low complexity region 357 379 N/A INTRINSIC
low complexity region 411 421 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091144
AA Change: M63T

PolyPhen 2 Score 0.030 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088678
Gene: ENSMUSG00000037174
AA Change: M63T

DomainStartEndE-ValueType
Pfam:Elf-1_N 3 108 8.6e-38 PFAM
low complexity region 142 154 N/A INTRINSIC
low complexity region 172 181 N/A INTRINSIC
ETS 207 294 1.28e-51 SMART
low complexity region 369 391 N/A INTRINSIC
low complexity region 423 433 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163748
AA Change: M63T

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126871
Gene: ENSMUSG00000037174
AA Change: M63T

DomainStartEndE-ValueType
Pfam:Elf-1_N 2 108 1.2e-37 PFAM
low complexity region 142 154 N/A INTRINSIC
low complexity region 172 181 N/A INTRINSIC
ETS 207 294 1.28e-51 SMART
low complexity region 369 391 N/A INTRINSIC
low complexity region 423 433 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183338
AA Change: M63T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139358
Gene: ENSMUSG00000037174
AA Change: M63T

DomainStartEndE-ValueType
Pfam:Elf-1_N 2 80 3.2e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183463
AA Change: M63T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139360
Gene: ENSMUSG00000037174
AA Change: M63T

DomainStartEndE-ValueType
Pfam:Elf-1_N 2 85 2.2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194209
Predicted Effect possibly damaging
Transcript: ENSMUST00000194641
AA Change: M63T

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174
AA Change: M63T

DomainStartEndE-ValueType
Pfam:Elf-1_N 2 108 1.2e-37 PFAM
low complexity region 142 154 N/A INTRINSIC
low complexity region 172 181 N/A INTRINSIC
ETS 207 294 1.28e-51 SMART
low complexity region 369 391 N/A INTRINSIC
low complexity region 423 433 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bod1l A G 5: 41,977,811 (GRCm39) S1168P probably benign Het
Csn1s2a A T 5: 87,934,569 (GRCm39) T173S unknown Het
Dchs1 T A 7: 105,404,604 (GRCm39) D2646V probably damaging Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dnah7a G T 1: 53,657,227 (GRCm39) R850S possibly damaging Het
Dock2 T C 11: 34,596,668 (GRCm39) D396G probably damaging Het
E2f7 A G 10: 110,614,955 (GRCm39) Y553C probably benign Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Kcnk13 T A 12: 100,027,257 (GRCm39) probably benign Het
Nr1h5 T A 3: 102,856,395 (GRCm39) I295L probably benign Het
Or9s23 A T 1: 92,501,051 (GRCm39) I53F probably benign Het
Ptprk A G 10: 28,449,383 (GRCm39) H986R probably damaging Het
Rufy1 T A 11: 50,307,071 (GRCm39) R300* probably null Het
Sfxn4 C A 19: 60,847,172 (GRCm39) S37I probably damaging Het
Slc12a9 A T 5: 137,325,627 (GRCm39) probably benign Het
Slc37a1 T C 17: 31,541,180 (GRCm39) I224T possibly damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Stard9 A G 2: 120,536,927 (GRCm39) K4233E possibly damaging Het
Trp53bp1 A T 2: 121,046,377 (GRCm39) M1141K probably benign Het
Ttn T C 2: 76,612,011 (GRCm39) D17297G probably damaging Het
Vmn1r12 T C 6: 57,136,649 (GRCm39) Y205H probably damaging Het
Vmn1r77 A G 7: 11,775,358 (GRCm39) K45E probably damaging Het
Vmn2r129 T C 4: 156,685,614 (GRCm39) noncoding transcript Het
Vps13a T C 19: 16,596,807 (GRCm39) T3104A probably benign Het
Other mutations in Elf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Elf2 APN 3 51,215,467 (GRCm39) critical splice donor site probably benign 0.00
IGL01577:Elf2 APN 3 51,163,773 (GRCm39) utr 3 prime probably benign
IGL02974:Elf2 APN 3 51,165,110 (GRCm39) missense probably damaging 0.98
IGL03244:Elf2 APN 3 51,165,193 (GRCm39) nonsense probably null
IGL02980:Elf2 UTSW 3 51,172,379 (GRCm39) missense possibly damaging 0.89
IGL03050:Elf2 UTSW 3 51,165,038 (GRCm39) missense probably benign 0.05
R0254:Elf2 UTSW 3 51,215,611 (GRCm39) missense probably damaging 1.00
R0594:Elf2 UTSW 3 51,163,874 (GRCm39) missense possibly damaging 0.64
R0644:Elf2 UTSW 3 51,215,552 (GRCm39) missense probably damaging 1.00
R1638:Elf2 UTSW 3 51,215,530 (GRCm39) missense probably damaging 1.00
R1729:Elf2 UTSW 3 51,164,993 (GRCm39) missense probably damaging 0.97
R1784:Elf2 UTSW 3 51,164,993 (GRCm39) missense probably damaging 0.97
R2142:Elf2 UTSW 3 51,163,861 (GRCm39) missense probably damaging 1.00
R2346:Elf2 UTSW 3 51,164,865 (GRCm39) missense probably benign
R4366:Elf2 UTSW 3 51,215,570 (GRCm39) nonsense probably null
R4672:Elf2 UTSW 3 51,163,855 (GRCm39) missense probably damaging 1.00
R4834:Elf2 UTSW 3 51,184,642 (GRCm39) missense probably damaging 1.00
R5514:Elf2 UTSW 3 51,215,555 (GRCm39) missense probably damaging 1.00
R6198:Elf2 UTSW 3 51,184,670 (GRCm39) missense probably damaging 1.00
R6870:Elf2 UTSW 3 51,201,586 (GRCm39) makesense probably null
R7129:Elf2 UTSW 3 51,168,432 (GRCm39) missense probably damaging 0.96
R7328:Elf2 UTSW 3 51,174,198 (GRCm39) missense probably damaging 0.97
R7718:Elf2 UTSW 3 51,173,385 (GRCm39) utr 3 prime probably benign
R7751:Elf2 UTSW 3 51,165,035 (GRCm39) missense probably damaging 0.99
R7873:Elf2 UTSW 3 51,164,099 (GRCm39) missense probably damaging 1.00
R8053:Elf2 UTSW 3 51,215,551 (GRCm39) missense possibly damaging 0.93
R8812:Elf2 UTSW 3 51,174,188 (GRCm39) missense possibly damaging 0.62
Posted On 2014-02-04