Incidental Mutation 'R6329:Elf1'
ID 509426
Institutional Source Beutler Lab
Gene Symbol Elf1
Ensembl Gene ENSMUSG00000036461
Gene Name E74 like ETS transcription factor 1
Synonyms Elf-1
MMRRC Submission 044483-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # R6329 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 79718632-79819931 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79810779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 288 (Q288R)
Ref Sequence ENSEMBL: ENSMUSP00000153956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040131] [ENSMUST00000110835] [ENSMUST00000227192]
AlphaFold Q60775
Predicted Effect probably benign
Transcript: ENSMUST00000040131
AA Change: Q325R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
AA Change: Q325R

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: Q325R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
AA Change: Q325R

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 possibly damaging
Transcript: ENSMUST00000227192
AA Change: Q288R

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,879,457 (GRCm39) H72R probably damaging Het
Abca13 A T 11: 9,227,937 (GRCm39) N660I probably damaging Het
Actr8 C T 14: 29,715,041 (GRCm39) R619* probably null Het
Adam18 C A 8: 25,104,843 (GRCm39) G657V probably damaging Het
Adcyap1 A G 17: 93,510,227 (GRCm39) E85G probably benign Het
Akr1c14 A G 13: 4,137,302 (GRCm39) Y305C probably damaging Het
Ankdd1b T A 13: 96,591,388 (GRCm39) H37L possibly damaging Het
Ap4e1 T C 2: 126,903,636 (GRCm39) L846P probably benign Het
Aqp9 A T 9: 71,039,966 (GRCm39) Y105* probably null Het
Arid1b C T 17: 5,387,538 (GRCm39) Q1664* probably null Het
Aup1 A G 6: 83,031,588 (GRCm39) probably benign Het
Bnip1 C A 17: 27,005,684 (GRCm39) S64* probably null Het
Calcr T A 6: 3,687,621 (GRCm39) Q422L probably damaging Het
Ccdc162 T A 10: 41,539,147 (GRCm39) D407V possibly damaging Het
Ccdc66 G T 14: 27,208,441 (GRCm39) S760R probably benign Het
Cd22 T A 7: 30,577,193 (GRCm39) E38V probably damaging Het
Cggbp1 T C 16: 64,676,383 (GRCm39) Y150H probably damaging Het
Chd3 T C 11: 69,252,510 (GRCm39) K263R possibly damaging Het
Col4a2 T A 8: 11,496,238 (GRCm39) F1620I probably damaging Het
Col6a2 T C 10: 76,435,662 (GRCm39) T858A probably benign Het
Dnah7a T A 1: 53,580,273 (GRCm39) D1554V probably damaging Het
Dnajc25 A T 4: 59,013,678 (GRCm39) Q132L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Ehbp1l1 A C 19: 5,768,795 (GRCm39) I836S possibly damaging Het
Fbn1 C A 2: 125,150,393 (GRCm39) V2608L possibly damaging Het
Frmpd1 T C 4: 45,268,551 (GRCm39) I232T possibly damaging Het
Fuca1 T A 4: 135,662,137 (GRCm39) I355N probably damaging Het
Gcnt4 A G 13: 97,083,781 (GRCm39) D359G probably damaging Het
Gm5134 T C 10: 75,790,494 (GRCm39) M30T possibly damaging Het
Grk1 T G 8: 13,455,704 (GRCm39) L196R probably damaging Het
Igkv14-126 A C 6: 67,873,548 (GRCm39) D92A probably damaging Het
Kmt2c A G 5: 25,520,600 (GRCm39) S1837P probably benign Het
Lhx4 T A 1: 155,578,300 (GRCm39) T281S probably benign Het
Lrrc55 G T 2: 85,026,653 (GRCm39) H124N probably benign Het
Marchf8 T A 6: 116,383,277 (GRCm39) I566N possibly damaging Het
Mycbp2 G A 14: 103,393,288 (GRCm39) A3091V probably benign Het
Nlrp4b A G 7: 10,458,847 (GRCm39) N355S probably benign Het
Nmur2 A G 11: 55,920,411 (GRCm39) V278A probably benign Het
Nod1 T C 6: 54,921,689 (GRCm39) M210V probably benign Het
Nt5c1b T A 12: 10,422,138 (GRCm39) C63* probably null Het
Or1e1f A G 11: 73,855,568 (GRCm39) I45V possibly damaging Het
Or1j17 A T 2: 36,578,694 (GRCm39) K227* probably null Het
Or4g7 C T 2: 111,309,573 (GRCm39) A148V possibly damaging Het
Or5d37 G A 2: 87,924,008 (GRCm39) P91S probably damaging Het
Or7g21 A C 9: 19,032,253 (GRCm39) M1L probably benign Het
Or8b37 T C 9: 37,959,121 (GRCm39) V201A probably benign Het
Or8g24 C T 9: 38,989,199 (GRCm39) V281I probably benign Het
Osbp2 T A 11: 3,665,153 (GRCm39) S517C probably damaging Het
Pcdha1 C T 18: 37,065,301 (GRCm39) P655L probably damaging Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Perp G A 10: 18,731,502 (GRCm39) G154S probably damaging Het
Perp G T 10: 18,731,503 (GRCm39) G154V probably damaging Het
Pira13 T C 7: 3,825,850 (GRCm39) T340A probably damaging Het
Prokr1 T G 6: 87,558,774 (GRCm39) T204P possibly damaging Het
Prpf3 A T 3: 95,739,890 (GRCm39) C630S probably damaging Het
Pter C A 2: 12,985,359 (GRCm39) H230N probably damaging Het
Ptprs A T 17: 56,724,427 (GRCm39) Y1167* probably null Het
Rad54l2 T C 9: 106,595,121 (GRCm39) I279V possibly damaging Het
Rora T A 9: 69,280,468 (GRCm39) L347Q probably damaging Het
Runx1t1 T G 4: 13,785,136 (GRCm39) M1R probably null Het
Sdcbp A G 4: 6,381,064 (GRCm39) S70G probably benign Het
Serpinb12 A G 1: 106,881,493 (GRCm39) Y210C probably damaging Het
Sipa1 T C 19: 5,701,517 (GRCm39) E1015G probably damaging Het
Slc15a2 A C 16: 36,572,144 (GRCm39) L740R possibly damaging Het
Specc1 A G 11: 62,047,379 (GRCm39) E916G probably damaging Het
Spta1 T C 1: 174,041,743 (GRCm39) I1371T possibly damaging Het
Tagln3 T C 16: 45,533,365 (GRCm39) M130V probably benign Het
Tchh A T 3: 93,353,752 (GRCm39) E1064V unknown Het
Tdp1 A T 12: 99,880,330 (GRCm39) S464C probably damaging Het
Tdp1 G C 12: 99,880,331 (GRCm39) S464T probably benign Het
Tenm3 T C 8: 48,729,884 (GRCm39) Y1374C probably damaging Het
Tmprss3 A T 17: 31,402,833 (GRCm39) Y455* probably null Het
Ttc5 A G 14: 51,003,385 (GRCm39) V433A possibly damaging Het
Wnt5a A T 14: 28,240,449 (GRCm39) R180* probably null Het
Zfp53 A G 17: 21,728,372 (GRCm39) D135G probably benign Het
Zfp619 T A 7: 39,186,969 (GRCm39) C1000S probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Elf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Elf1 APN 14 79,817,789 (GRCm39) missense possibly damaging 0.62
IGL02582:Elf1 APN 14 79,773,819 (GRCm39) missense probably damaging 0.99
Elvis UTSW 14 79,808,163 (GRCm39) missense probably damaging 1.00
Erlkoenig UTSW 14 79,808,352 (GRCm39) missense probably damaging 1.00
Hound_dog UTSW 14 79,810,667 (GRCm39) nonsense probably null
presley UTSW 14 79,808,174 (GRCm39) missense probably damaging 1.00
schubert UTSW 14 79,808,322 (GRCm39) missense possibly damaging 0.80
R0049:Elf1 UTSW 14 79,802,965 (GRCm39) missense probably damaging 1.00
R1344:Elf1 UTSW 14 79,798,215 (GRCm39) missense probably damaging 1.00
R1418:Elf1 UTSW 14 79,798,215 (GRCm39) missense probably damaging 1.00
R1483:Elf1 UTSW 14 79,818,078 (GRCm39) missense probably benign 0.00
R1557:Elf1 UTSW 14 79,804,620 (GRCm39) missense possibly damaging 0.88
R2342:Elf1 UTSW 14 79,802,896 (GRCm39) intron probably benign
R3151:Elf1 UTSW 14 79,804,755 (GRCm39) critical splice donor site probably null
R3771:Elf1 UTSW 14 79,804,650 (GRCm39) missense possibly damaging 0.73
R3772:Elf1 UTSW 14 79,804,650 (GRCm39) missense possibly damaging 0.73
R3773:Elf1 UTSW 14 79,804,650 (GRCm39) missense possibly damaging 0.73
R4031:Elf1 UTSW 14 79,806,723 (GRCm39) missense probably damaging 1.00
R4783:Elf1 UTSW 14 79,818,183 (GRCm39) missense probably benign 0.01
R4784:Elf1 UTSW 14 79,818,183 (GRCm39) missense probably benign 0.01
R5012:Elf1 UTSW 14 79,808,174 (GRCm39) missense probably damaging 1.00
R6088:Elf1 UTSW 14 79,804,701 (GRCm39) missense probably benign
R6293:Elf1 UTSW 14 79,798,226 (GRCm39) missense probably damaging 0.99
R7000:Elf1 UTSW 14 79,808,208 (GRCm39) missense probably damaging 1.00
R7140:Elf1 UTSW 14 79,804,710 (GRCm39) missense probably benign 0.03
R7621:Elf1 UTSW 14 79,808,322 (GRCm39) missense possibly damaging 0.80
R7641:Elf1 UTSW 14 79,808,163 (GRCm39) missense probably damaging 1.00
R7812:Elf1 UTSW 14 79,802,998 (GRCm39) missense probably damaging 1.00
R7839:Elf1 UTSW 14 79,773,855 (GRCm39) missense probably benign 0.02
R7919:Elf1 UTSW 14 79,798,339 (GRCm39) missense probably benign 0.00
R8068:Elf1 UTSW 14 79,773,830 (GRCm39) missense probably benign 0.04
R8253:Elf1 UTSW 14 79,773,792 (GRCm39) start codon destroyed probably null 0.68
R8725:Elf1 UTSW 14 79,810,667 (GRCm39) nonsense probably null
R8727:Elf1 UTSW 14 79,810,667 (GRCm39) nonsense probably null
R9152:Elf1 UTSW 14 79,808,352 (GRCm39) missense probably damaging 1.00
R9266:Elf1 UTSW 14 79,798,290 (GRCm39) missense probably benign 0.13
R9778:Elf1 UTSW 14 79,817,948 (GRCm39) missense possibly damaging 0.79
X0028:Elf1 UTSW 14 79,803,018 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ACCCTTTCAGTCCCTCATAAGG -3'
(R):5'- TACATGAACAGTTCGGAAGAGC -3'

Sequencing Primer
(F):5'- GTCCCTCATAAGGATTTAATCTGTG -3'
(R):5'- CTGGGTAGGATAGGGAGCCTG -3'
Posted On 2018-04-02