Incidental Mutation 'R3773:Elf1'
ID273455
Institutional Source Beutler Lab
Gene Symbol Elf1
Ensembl Gene ENSMUSG00000036461
Gene NameE74-like factor 1
SynonymsElf-1, mElf-1, p70
MMRRC Submission 040749-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.450) question?
Stock #R3773 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location79481194-79582494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79567210 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
Ref Sequence ENSEMBL: ENSMUSP00000153956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040131] [ENSMUST00000110835] [ENSMUST00000227192]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040131
AA Change: V142A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
AA Change: V142A

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 possibly damaging
Transcript: ENSMUST00000110835
AA Change: V142A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
AA Change: V142A

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 noncoding transcript
Transcript: ENSMUST00000176930
Predicted Effect possibly damaging
Transcript: ENSMUST00000227192
AA Change: V105A

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.1281 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik T C 17: 56,876,262 M1T probably null Het
1810041L15Rik A T 15: 84,406,685 Y120* probably null Het
A2ml1 T A 6: 128,555,083 K899N probably benign Het
Adgrv1 G A 13: 81,499,043 S3126L probably damaging Het
Apba3 C A 10: 81,272,609 probably null Het
Apobec4 G T 1: 152,756,805 A195S probably benign Het
Asap3 C T 4: 136,227,575 T72I probably benign Het
BC067074 A G 13: 113,318,209 E263G probably benign Het
Cand2 T A 6: 115,785,217 H201Q probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 probably benign Het
Chd1 A G 17: 17,374,651 D16G probably damaging Het
Csgalnact2 T C 6: 118,126,219 K19E probably benign Het
Cyp17a1 T G 19: 46,669,723 K250T probably damaging Het
Ddx41 G A 13: 55,534,480 R205W possibly damaging Het
Dgcr8 T C 16: 18,256,775 D712G probably damaging Het
Dsg2 T C 18: 20,591,862 W442R probably damaging Het
Elavl2 C T 4: 91,264,088 G131R probably damaging Het
Ercc6l2 A G 13: 63,841,450 D270G probably damaging Het
Fmn1 T G 2: 113,582,118 S996A probably damaging Het
Frmd4a A T 2: 4,590,622 E109D probably damaging Het
Fry A T 5: 150,398,198 R999S probably damaging Het
Gak G A 5: 108,582,672 T956I probably benign Het
Gm6614 T C 6: 141,972,335 K605R probably benign Het
Gm9008 C T 6: 76,496,959 V225I probably benign Het
Gps2 T C 11: 69,916,101 F21L probably damaging Het
Grhl3 C T 4: 135,555,847 W303* probably null Het
Hmcn2 C T 2: 31,360,896 T790M probably damaging Het
Lrp5 G A 19: 3,612,330 R173C probably damaging Het
Matk T A 10: 81,258,297 L21Q probably benign Het
Mthfr T C 4: 148,044,450 V160A probably benign Het
Nhlrc4 T A 17: 25,943,393 K127* probably null Het
Nsd1 G A 13: 55,246,673 V696I probably benign Het
Nup210l T G 3: 90,119,894 Y194* probably null Het
Olfr1497 T A 19: 13,795,204 M136L probably benign Het
Olfr345 A T 2: 36,640,321 Y94F probably benign Het
Olfr57 G A 10: 79,035,180 C128Y possibly damaging Het
Olfr90 G T 17: 37,086,065 Y33* probably null Het
Pcdhb15 T A 18: 37,475,890 V725D probably benign Het
Pes1 A G 11: 3,975,548 Y221C probably damaging Het
Prkd3 T C 17: 78,959,106 I603V possibly damaging Het
Ptpn13 A G 5: 103,477,121 E97G probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Ptprs T C 17: 56,428,978 T152A possibly damaging Het
Rims1 T C 1: 22,421,810 D842G probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rngtt T C 4: 33,330,889 I164T probably damaging Het
Scn9a T C 2: 66,483,648 N1909D probably benign Het
Ska3 C T 14: 57,810,077 V334I probably benign Het
Srebf2 A G 15: 82,182,108 K579R probably benign Het
Stxbp5 G A 10: 9,768,927 T960I probably damaging Het
Suco A T 1: 161,843,996 probably null Het
Tecta T C 9: 42,330,996 T2094A probably damaging Het
Tenm4 A T 7: 96,694,880 R227W probably damaging Het
Tmem131l A G 3: 83,898,586 S1517P probably damaging Het
Trio A G 15: 27,748,091 S2492P probably damaging Het
Tsg101 T C 7: 46,889,615 *254W probably null Het
Ttn T C 2: 76,771,367 T16872A probably benign Het
Ugt2b38 A G 5: 87,424,095 V26A probably damaging Het
Upb1 T A 10: 75,439,838 probably null Het
Vmn1r32 T A 6: 66,553,367 I142F probably benign Het
Vmn1r60 C A 7: 5,544,711 C130F possibly damaging Het
Vmn2r101 A G 17: 19,589,657 D235G probably benign Het
Wnk1 C T 6: 120,002,280 R282Q possibly damaging Het
Xrn2 T C 2: 147,061,287 V765A probably benign Het
Zbed4 T C 15: 88,780,847 S373P probably benign Het
Zfp251 A G 15: 76,853,636 I414T possibly damaging Het
Zfp423 A T 8: 87,780,512 L1047Q probably benign Het
Zfp426 A T 9: 20,473,117 probably null Het
Zfp61 T C 7: 24,295,981 M1V probably null 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
R1483:Elf1 UTSW 14 79580638 missense probably benign 0.00
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
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
R8725:Elf1 UTSW 14 79573227 nonsense probably null
R8727:Elf1 UTSW 14 79573227 nonsense probably null
X0028:Elf1 UTSW 14 79565578 splice site probably null
Predicted Primers PCR Primer
(F):5'- CCTGGGTTGCTTTAGGATCC -3'
(R):5'- ATGCCTCAACTGGTCTTGTG -3'

Sequencing Primer
(F):5'- TCCTTGATTTAGGGCAGAGGAAATG -3'
(R):5'- CTTACCTGGTATAGAAGCACCTG -3'
Posted On2015-03-25