Incidental Mutation 'R6198:Elf2'
ID 503020
Institutional Source Beutler Lab
Gene Symbol Elf2
Ensembl Gene ENSMUSG00000037174
Gene Name E74-like factor 2
Synonyms 2610036A20Rik, NERF-2, A230104O07Rik
MMRRC Submission 044338-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R6198 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 51160141-51248084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51184670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 5 (L5Q)
Ref Sequence ENSEMBL: ENSMUSP00000139199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062009] [ENSMUST00000091144] [ENSMUST00000108051] [ENSMUST00000108053] [ENSMUST00000156983] [ENSMUST00000184677] [ENSMUST00000195432] [ENSMUST00000183338] [ENSMUST00000183463] [ENSMUST00000163748] [ENSMUST00000194641]
AlphaFold Q9JHC9
Predicted Effect probably benign
Transcript: ENSMUST00000062009
SMART Domains Protein: ENSMUSP00000061076
Gene: ENSMUSG00000037174

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: L5Q

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000088678
Gene: ENSMUSG00000037174
AA Change: L5Q

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: ENSMUST00000108051
AA Change: L5Q

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103686
Gene: ENSMUSG00000037174
AA Change: L5Q

DomainStartEndE-ValueType
Pfam:Elf-1_N 11 48 4.9e-11 PFAM
low complexity region 70 82 N/A INTRINSIC
low complexity region 100 109 N/A INTRINSIC
ETS 135 222 1.28e-51 SMART
low complexity region 297 319 N/A INTRINSIC
low complexity region 351 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108053
AA Change: L5Q

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103688
Gene: ENSMUSG00000037174
AA Change: L5Q

DomainStartEndE-ValueType
Pfam:Elf-1_N 11 48 5e-11 PFAM
low complexity region 82 94 N/A INTRINSIC
low complexity region 112 121 N/A INTRINSIC
ETS 147 234 1.28e-51 SMART
low complexity region 309 331 N/A INTRINSIC
low complexity region 363 373 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139771
Predicted Effect probably damaging
Transcript: ENSMUST00000156983
AA Change: L5Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141525
Gene: ENSMUSG00000037174
AA Change: L5Q

DomainStartEndE-ValueType
Pfam:Elf-1_N 7 48 1.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184677
AA Change: L5Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139199
Gene: ENSMUSG00000037174
AA Change: L5Q

DomainStartEndE-ValueType
Pfam:Elf-1_N 10 48 1.1e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195432
AA Change: L5Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142300
Gene: ENSMUSG00000037174
AA Change: L5Q

DomainStartEndE-ValueType
Pfam:Elf-1_N 7 48 1.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194209
Predicted Effect probably benign
Transcript: ENSMUST00000183338
SMART Domains Protein: ENSMUSP00000139358
Gene: ENSMUSG00000037174

DomainStartEndE-ValueType
Pfam:Elf-1_N 2 80 3.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183463
SMART Domains Protein: ENSMUSP00000139360
Gene: ENSMUSG00000037174

DomainStartEndE-ValueType
Pfam:Elf-1_N 2 85 2.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163748
SMART Domains Protein: ENSMUSP00000126871
Gene: ENSMUSG00000037174

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 benign
Transcript: ENSMUST00000194641
SMART Domains Protein: ENSMUSP00000141197
Gene: ENSMUSG00000037174

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,499 (GRCm39) probably null Het
2610318N02Rik A G 16: 16,936,233 (GRCm39) S164P probably damaging Het
Acsbg3 A G 17: 57,189,679 (GRCm39) S265G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 A C 11: 46,012,329 (GRCm39) N275T probably damaging Het
Adgrg7 T A 16: 56,597,556 (GRCm39) T84S possibly damaging Het
Asl C T 5: 130,047,757 (GRCm39) V70I probably benign Het
Atp2c1 A G 9: 105,398,271 (GRCm39) S26P probably benign Het
Bcas3 A T 11: 85,400,261 (GRCm39) D410V probably damaging Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ccdc15 A C 9: 37,225,581 (GRCm39) probably null Het
Cfh A G 1: 140,033,178 (GRCm39) S789P probably damaging Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnst A G 1: 179,420,430 (GRCm39) Q187R probably damaging Het
Csmd3 T C 15: 48,177,273 (GRCm39) T422A probably benign Het
Cyp2c55 A T 19: 38,995,565 (GRCm39) R26* probably null Het
Dgkb A T 12: 38,223,822 (GRCm39) M414L probably benign Het
Dgkd A G 1: 87,851,930 (GRCm39) D444G probably damaging Het
Dipk1b A G 2: 26,525,710 (GRCm39) K215E probably damaging Het
Dnmt3c T C 2: 153,561,929 (GRCm39) V544A noncoding transcript Het
Dus3l A T 17: 57,074,858 (GRCm39) T327S possibly damaging Het
Fxyd6 A G 9: 45,301,968 (GRCm39) Y30C probably damaging Het
Gcc2 A T 10: 58,128,412 (GRCm39) T1375S probably benign Het
Git2 A T 5: 114,883,556 (GRCm39) Y393* probably null Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Golgb1 T C 16: 36,713,757 (GRCm39) L246P probably damaging Het
Grp G T 18: 66,013,057 (GRCm39) Q74H possibly damaging Het
Ifi203 A T 1: 173,751,648 (GRCm39) M391K probably damaging Het
Itih2 A G 2: 10,103,352 (GRCm39) Y712H probably benign Het
Kdm5a T A 6: 120,415,958 (GRCm39) V1626E probably benign Het
Klhl40 A G 9: 121,607,833 (GRCm39) Y331C probably damaging Het
Kprp T A 3: 92,731,994 (GRCm39) Y352F probably damaging Het
Lama2 G T 10: 27,064,018 (GRCm39) H1286Q probably damaging Het
Lgi4 T A 7: 30,768,547 (GRCm39) probably null Het
Lrrc47 A T 4: 154,100,129 (GRCm39) N235I probably damaging Het
Lrrc74b T A 16: 17,366,650 (GRCm39) I308F probably damaging Het
Map7d1 T A 4: 126,135,636 (GRCm39) K135M probably damaging Het
Marchf5 A G 19: 37,188,140 (GRCm39) R36G probably damaging Het
Mtx3 C A 13: 92,989,359 (GRCm39) P299Q probably benign Het
Muc21 T A 17: 35,931,808 (GRCm39) probably benign Het
Ncapd2 C A 6: 125,156,286 (GRCm39) E500* probably null Het
Nckap5l T C 15: 99,323,869 (GRCm39) K878R probably damaging Het
Nphs1 T C 7: 30,167,340 (GRCm39) I756T probably damaging Het
Olfm4 T G 14: 80,237,813 (GRCm39) S17A probably benign Het
Or1j15 A G 2: 36,458,963 (GRCm39) M118V probably damaging Het
Or4b1 A T 2: 89,979,782 (GRCm39) D189E probably damaging Het
Pak1ip1 G T 13: 41,154,886 (GRCm39) Q27H probably benign Het
Piezo2 A T 18: 63,290,281 (GRCm39) C159* probably null Het
Pkn2 G T 3: 142,516,165 (GRCm39) T538K probably benign Het
Ppp3cc A T 14: 70,485,060 (GRCm39) M198K probably benign Het
Rrm1 T G 7: 102,095,936 (GRCm39) probably null Het
Setd3 T C 12: 108,131,427 (GRCm39) K7E possibly damaging Het
Shc1 A G 3: 89,329,414 (GRCm39) K86R probably benign Het
Slc16a7 T C 10: 125,064,084 (GRCm39) T418A probably benign Het
Spocd1 C T 4: 129,849,208 (GRCm39) P676S probably damaging Het
Spp1 A G 5: 104,587,374 (GRCm39) probably null Het
Syne1 A G 10: 5,252,269 (GRCm39) Y2462H probably damaging Het
Tiam2 T C 17: 3,464,396 (GRCm39) S42P probably benign Het
Tmem63b C T 17: 45,972,442 (GRCm39) V722I probably benign Het
Ubqln1 A G 13: 58,344,404 (GRCm39) S130P probably benign Het
Usp34 G T 11: 23,434,127 (GRCm39) L3215F probably damaging Het
Uvssa A G 5: 33,566,854 (GRCm39) Y517C probably damaging Het
Vps13d A T 4: 144,875,560 (GRCm39) F1649Y probably benign Het
Zfp236 A G 18: 82,675,278 (GRCm39) S405P probably damaging Het
Zfp9 T C 6: 118,454,282 (GRCm39) M1V probably null Het
Zfp946 A T 17: 22,673,896 (GRCm39) S217C probably damaging Het
Zfp970 T A 2: 177,167,253 (GRCm39) C276S probably damaging Het
Zswim5 T A 4: 116,735,204 (GRCm39) F183Y 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
IGL01829:Elf2 APN 3 51,215,521 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- CTCCAAGGTGATCACTTCCTG -3'
(R):5'- ATTTGCAGACTTCGCTTCCG -3'

Sequencing Primer
(F):5'- CAAGGTGATCACTTCCTGATTTG -3'
(R):5'- TTCCGCAGAACGTGAAGC -3'
Posted On 2018-02-27