Incidental Mutation 'R1483:Elf1'
ID165728
Institutional Source Beutler Lab
Gene Symbol Elf1
Ensembl Gene ENSMUSG00000036461
Gene NameE74-like factor 1
SynonymsElf-1, mElf-1, p70
MMRRC Submission 039536-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.358) question?
Stock #R1483 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location79481194-79582494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 79580638 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 569 (D569E)
Ref Sequence ENSEMBL: ENSMUSP00000106459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040131] [ENSMUST00000110835] [ENSMUST00000227192]
Predicted Effect probably benign
Transcript: ENSMUST00000040131
AA Change: D569E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
AA Change: D569E

DomainStartEndE-ValueType
Pfam:Elf-1_N 2 111 1.5e-47 PFAM
low complexity region 172 185 N/A INTRINSIC
ETS 207 294 6.39e-52 SMART
low complexity region 299 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110835
AA Change: D569E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
AA Change: D569E

DomainStartEndE-ValueType
Pfam:Elf-1_N 1 111 1.9e-47 PFAM
low complexity region 172 185 N/A INTRINSIC
ETS 207 294 6.39e-52 SMART
low complexity region 299 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227192
AA Change: D532E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene show no obvious phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik A T 13: 59,742,903 S368T probably damaging Het
9930021J03Rik G A 19: 29,719,345 P916L possibly damaging Het
Adam12 T A 7: 133,930,025 T494S probably benign Het
Akap6 C T 12: 52,796,087 P73S probably damaging Het
Amotl2 A T 9: 102,730,897 T763S probably benign Het
C87499 T A 4: 88,628,834 Q116L probably damaging Het
Cdc5l A T 17: 45,408,364 V541D possibly damaging Het
Chl1 A G 6: 103,647,287 Y52C probably damaging Het
D6Wsu163e A G 6: 126,954,770 E255G probably benign Het
Ddhd2 A G 8: 25,753,128 S126P probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,585,549 probably benign Het
Drc3 A G 11: 60,388,889 I427V probably benign Het
Drg2 T C 11: 60,459,527 I104T probably damaging Het
Dst C T 1: 34,252,998 A932V probably damaging Het
Ecm1 G A 3: 95,735,963 R342C probably damaging Het
Eif3a A T 19: 60,768,726 D880E unknown Het
Esp6 T A 17: 40,562,925 M1K probably null Het
Fer1l6 T C 15: 58,637,970 V1427A possibly damaging Het
Gm17689 G A 9: 36,581,324 S95L probably benign Het
Gsta1 A T 9: 78,242,493 K196M probably damaging Het
Gzme T A 14: 56,118,712 I110F probably damaging Het
H2-DMa T A 17: 34,135,750 V27E possibly damaging Het
H2-T10 A T 17: 36,121,146 S2T probably benign Het
Hadhb A G 5: 30,169,494 probably null Het
Hoxa11 G T 6: 52,243,456 D282E probably damaging Het
Ifit1bl1 A G 19: 34,594,641 Y139H possibly damaging Het
Ift27 A G 15: 78,165,236 V88A possibly damaging Het
Knop1 C T 7: 118,853,050 A149T probably damaging Het
Macf1 T A 4: 123,510,977 K597I probably damaging Het
Med16 A T 10: 79,903,100 I284N possibly damaging Het
Melk T A 4: 44,308,937 I98K probably damaging Het
Mst1 G T 9: 108,081,650 G127V probably benign Het
Nacad A G 11: 6,602,217 S325P probably damaging Het
Nbea G A 3: 56,002,790 P1328L probably benign Het
Nek5 C T 8: 22,096,790 S335N probably benign Het
Nif3l1 C A 1: 58,447,726 R24S probably benign Het
Nlrp14 T G 7: 107,190,122 N39K possibly damaging Het
Nup50 T A 15: 84,939,727 V427D probably damaging Het
Nwd1 C T 8: 72,657,086 P78L probably damaging Het
Olfr1431 T A 19: 12,209,750 Y61* probably null Het
Pnkd A G 1: 74,349,391 Y242C probably benign Het
Ppm1g T C 5: 31,203,121 D423G probably benign Het
Prkci A T 3: 31,043,792 N464Y probably damaging Het
Ptprf C T 4: 118,235,964 V494M possibly damaging Het
Rapgef4 T G 2: 72,055,026 probably null Het
Rbak T C 5: 143,174,344 E318G probably damaging Het
Rora A G 9: 69,364,385 D215G probably benign Het
Rp1l1 C T 14: 64,029,047 T694I possibly damaging Het
Scrib A G 15: 76,057,922 L1032P probably damaging Het
Sectm1b G A 11: 121,055,826 T81M probably benign Het
Sgk3 T C 1: 9,872,293 F97L possibly damaging Het
Socs3 A T 11: 117,967,568 Y221* probably null Het
Tdrd6 T A 17: 43,627,607 H850L probably benign Het
Tex44 G T 1: 86,427,186 Q272H probably damaging Het
Tgfbr2 A C 9: 116,109,557 S426A probably benign Het
Tmem39b T C 4: 129,676,663 Y461C probably damaging Het
Ttn T A 2: 76,724,993 D30556V probably damaging Het
Tubgcp5 T A 7: 55,825,707 probably null Het
Vmn2r70 T C 7: 85,559,167 I701V probably benign Het
Vps39 A T 2: 120,323,648 L622Q probably damaging Het
Wdfy4 T A 14: 33,100,966 H1347L probably benign Het
Xpo1 A G 11: 23,284,863 I540V probably benign Het
Xylt2 A C 11: 94,669,567 M294R probably benign Het
Zfp788 T G 7: 41,649,075 Y326* probably null Het
Zim1 A G 7: 6,682,125 F109L probably benign Het
Other mutations in Elf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Elf1 APN 14 79580349 missense possibly damaging 0.62
IGL02582:Elf1 APN 14 79536379 missense probably damaging 0.99
Elvis UTSW 14 79570723 missense probably damaging 1.00
presley UTSW 14 79570734 missense probably damaging 1.00
R0049:Elf1 UTSW 14 79565525 missense probably damaging 1.00
R1344:Elf1 UTSW 14 79560775 missense probably damaging 1.00
R1418:Elf1 UTSW 14 79560775 missense probably damaging 1.00
R1557:Elf1 UTSW 14 79567180 missense possibly damaging 0.88
R2342:Elf1 UTSW 14 79565456 intron probably benign
R3151:Elf1 UTSW 14 79567315 critical splice donor site probably null
R3771:Elf1 UTSW 14 79567210 missense possibly damaging 0.73
R3772:Elf1 UTSW 14 79567210 missense possibly damaging 0.73
R3773:Elf1 UTSW 14 79567210 missense possibly damaging 0.73
R4031:Elf1 UTSW 14 79569283 missense probably damaging 1.00
R4783:Elf1 UTSW 14 79580743 missense probably benign 0.01
R4784:Elf1 UTSW 14 79580743 missense probably benign 0.01
R5012:Elf1 UTSW 14 79570734 missense probably damaging 1.00
R6088:Elf1 UTSW 14 79567261 missense probably benign
R6293:Elf1 UTSW 14 79560786 missense probably damaging 0.99
R6329:Elf1 UTSW 14 79573339 missense possibly damaging 0.62
R7000:Elf1 UTSW 14 79570768 missense probably damaging 1.00
R7140:Elf1 UTSW 14 79567270 missense probably benign 0.03
R7621:Elf1 UTSW 14 79570882 missense possibly damaging 0.80
R7641:Elf1 UTSW 14 79570723 missense probably damaging 1.00
R7812:Elf1 UTSW 14 79565558 missense probably damaging 1.00
R7839:Elf1 UTSW 14 79536415 missense probably benign 0.02
R7919:Elf1 UTSW 14 79560899 missense probably benign 0.00
R8068:Elf1 UTSW 14 79536390 missense probably benign 0.04
R8253:Elf1 UTSW 14 79536352 start codon destroyed probably null 0.68
X0028:Elf1 UTSW 14 79565578 splice site probably null
Predicted Primers PCR Primer
(F):5'- GCAGGTCCTCACAAGCAATGTTCAG -3'
(R):5'- GGGTTCGCCTCCTTATCTAGCAAAG -3'

Sequencing Primer
(F):5'- CAGTCCATTTGCAATGGAGC -3'
(R):5'- GCCTCCTTATCTAGCAAAGTCAAAAG -3'
Posted On2014-03-28