Incidental Mutation 'IGL03162:Elf5'
ID 411470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elf5
Ensembl Gene ENSMUSG00000027186
Gene Name E74-like factor 5
Synonyms ESE-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03162
Quality Score
Status
Chromosome 2
Chromosomal Location 103242443-103281334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103260751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 38 (H38Q)
Ref Sequence ENSEMBL: ENSMUSP00000131940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028609] [ENSMUST00000126290] [ENSMUST00000164172] [ENSMUST00000171693]
AlphaFold Q8VDK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000028609
AA Change: H38Q

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028609
Gene: ENSMUSG00000027186
AA Change: H38Q

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126290
AA Change: H38Q

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118565
Gene: ENSMUSG00000027186
AA Change: H38Q

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 199 4.45e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137973
Predicted Effect possibly damaging
Transcript: ENSMUST00000164172
AA Change: H38Q

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126941
Gene: ENSMUSG00000027186
AA Change: H38Q

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171693
AA Change: H38Q

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131940
Gene: ENSMUSG00000027186
AA Change: H38Q

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality. Embryos homozygous for one null allele failed to develop extraembryonic ectoderm, did not maintain trophoblast stem cells, and had abnormal or absent mesoderm. Mice heterozygous for another allele had impaired lactation and mammary gland development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,791,581 (GRCm39) D92V probably damaging Het
Acsl3 T C 1: 78,676,887 (GRCm39) probably null Het
Adam5 T C 8: 25,271,620 (GRCm39) T596A probably benign Het
Adh6a T A 3: 138,034,880 (GRCm39) Y336* probably null Het
Ak3 A T 19: 29,000,236 (GRCm39) V225D possibly damaging Het
Aldh1a7 T A 19: 20,685,645 (GRCm39) I302F probably benign Het
Amdhd1 T C 10: 93,367,337 (GRCm39) probably null Het
Arhgef18 G A 8: 3,491,301 (GRCm39) probably null Het
Caap1 A T 4: 94,389,261 (GRCm39) probably benign Het
Cdhr4 G A 9: 107,875,210 (GRCm39) G70D probably damaging Het
Celsr3 T C 9: 108,719,757 (GRCm39) F2445S probably damaging Het
Cenpc1 A G 5: 86,185,764 (GRCm39) V249A possibly damaging Het
Clca3a2 C A 3: 144,512,177 (GRCm39) V80F probably damaging Het
Col6a1 T A 10: 76,553,885 (GRCm39) probably benign Het
Commd10 T A 18: 47,220,117 (GRCm39) L198Q probably damaging Het
Cyp2d40 A G 15: 82,644,243 (GRCm39) L294P unknown Het
E2f6 T A 12: 16,868,909 (GRCm39) D77E probably benign Het
Entrep1 T G 19: 23,965,824 (GRCm39) H225P probably damaging Het
Fcrl6 A G 1: 172,425,820 (GRCm39) V227A probably damaging Het
Fhip2b G T 14: 70,824,994 (GRCm39) D447E probably damaging Het
Gabarapl2 T A 8: 112,669,168 (GRCm39) V42D probably benign Het
Gm3543 A G 14: 41,802,022 (GRCm39) I154T possibly damaging Het
Gpr150 T A 13: 76,204,950 (GRCm39) probably benign Het
Gstp3 A G 19: 4,109,255 (GRCm39) probably benign Het
Gzmm C T 10: 79,528,790 (GRCm39) T64I probably damaging Het
Hs3st1 T A 5: 39,771,792 (GRCm39) K284* probably null Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih2 A T 2: 10,131,055 (GRCm39) I94N probably damaging Het
Kif26b A G 1: 178,744,497 (GRCm39) N1531S probably benign Het
Kif27 T C 13: 58,459,021 (GRCm39) S937G probably benign Het
Klhl2 A G 8: 65,207,426 (GRCm39) V311A probably damaging Het
Klrb1b T A 6: 128,795,892 (GRCm39) Q109L probably null Het
Lrig2 A G 3: 104,371,613 (GRCm39) F697L probably damaging Het
Lrrc66 T C 5: 73,764,725 (GRCm39) R773G probably benign Het
Mrgpra2b C T 7: 47,113,815 (GRCm39) V306I probably benign Het
Nipbl T C 15: 8,368,463 (GRCm39) H1127R probably benign Het
Nr3c2 A T 8: 77,944,213 (GRCm39) D816V probably damaging Het
Ntmt2 T A 1: 163,530,783 (GRCm39) I219L probably damaging Het
Or10a3 T C 7: 108,480,811 (GRCm39) M1V probably null Het
Or5w19 A C 2: 87,698,484 (GRCm39) M50L probably benign Het
Pdxdc1 A G 16: 13,675,281 (GRCm39) L350P probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pnpla7 T C 2: 24,905,301 (GRCm39) probably benign Het
Ppan T G 9: 20,802,608 (GRCm39) L283R probably damaging Het
Rbfox3 A C 11: 118,387,257 (GRCm39) S286A probably benign Het
Rbl2 A G 8: 91,812,330 (GRCm39) T273A probably benign Het
Recql4 G T 15: 76,590,296 (GRCm39) probably null Het
Slc22a26 T A 19: 7,779,466 (GRCm39) M117L probably benign Het
Sult2a2 T A 7: 13,468,822 (GRCm39) I96K probably damaging Het
Tcf15 G A 2: 151,990,626 (GRCm39) R175H probably benign Het
Uggt1 A T 1: 36,247,037 (GRCm39) V320D probably damaging Het
Vmn2r102 A G 17: 19,914,286 (GRCm39) N617S probably damaging Het
Vpreb3 A G 10: 75,785,133 (GRCm39) Y77C probably damaging Het
Zbbx A T 3: 74,978,930 (GRCm39) probably benign Het
Zfand6 A T 7: 84,283,185 (GRCm39) S57R probably benign Het
Zmym2 A G 14: 57,151,500 (GRCm39) I462V probably benign Het
Other mutations in Elf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Elf5 APN 2 103,273,206 (GRCm39) splice site probably benign
R0329:Elf5 UTSW 2 103,260,765 (GRCm39) splice site probably benign
R4667:Elf5 UTSW 2 103,279,405 (GRCm39) missense probably damaging 1.00
R4906:Elf5 UTSW 2 103,279,918 (GRCm39) nonsense probably null
R5768:Elf5 UTSW 2 103,279,367 (GRCm39) missense probably damaging 1.00
R6307:Elf5 UTSW 2 103,269,757 (GRCm39) missense probably damaging 1.00
R6418:Elf5 UTSW 2 103,269,697 (GRCm39) missense possibly damaging 0.92
R6526:Elf5 UTSW 2 103,269,578 (GRCm39) missense probably damaging 1.00
R6708:Elf5 UTSW 2 103,279,334 (GRCm39) missense probably damaging 0.97
R7199:Elf5 UTSW 2 103,269,641 (GRCm39) missense possibly damaging 0.70
R7263:Elf5 UTSW 2 103,269,645 (GRCm39) missense probably benign 0.25
R7646:Elf5 UTSW 2 103,269,588 (GRCm39) missense probably benign 0.39
Posted On 2016-08-02