Incidental Mutation 'R8960:Eps8l1'
ID 682279
Institutional Source Beutler Lab
Gene Symbol Eps8l1
Ensembl Gene ENSMUSG00000006154
Gene Name EPS8-like 1
Synonyms DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8960 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4463673-4483486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4481214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 672 (R672L)
Ref Sequence ENSEMBL: ENSMUSP00000133206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000086372] [ENSMUST00000124248] [ENSMUST00000163137] [ENSMUST00000163893] [ENSMUST00000164987] [ENSMUST00000171445]
AlphaFold Q8R5F8
Predicted Effect probably benign
Transcript: ENSMUST00000013886
SMART Domains Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 74 97 N/A INTRINSIC
ANK 104 133 3.71e-4 SMART
ANK 137 166 3.43e-8 SMART
low complexity region 205 210 N/A INTRINSIC
ANK 230 259 7.95e-4 SMART
ANK 263 292 2.41e-3 SMART
low complexity region 369 385 N/A INTRINSIC
low complexity region 401 413 N/A INTRINSIC
internal_repeat_2 450 508 2.86e-5 PROSPERO
internal_repeat_2 545 599 2.86e-5 PROSPERO
low complexity region 631 649 N/A INTRINSIC
Pfam:PRKG1_interact 682 782 9.7e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000086372
AA Change: R611L

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: R611L

DomainStartEndE-ValueType
Pfam:PTB 35 165 2.1e-46 PFAM
low complexity region 282 304 N/A INTRINSIC
SH3 480 535 2.62e-11 SMART
low complexity region 554 564 N/A INTRINSIC
PDB:1WWU|A 632 698 1e-19 PDB
low complexity region 701 715 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124248
SMART Domains Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254

DomainStartEndE-ValueType
ANK 25 54 3.71e-4 SMART
ANK 58 87 3.43e-8 SMART
low complexity region 126 131 N/A INTRINSIC
ANK 151 180 7.95e-4 SMART
ANK 184 213 2.41e-3 SMART
low complexity region 290 306 N/A INTRINSIC
low complexity region 322 334 N/A INTRINSIC
PDB:2KJY|A 445 498 3e-11 PDB
low complexity region 553 571 N/A INTRINSIC
coiled coil region 604 704 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163137
SMART Domains Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
Pfam:PTB 35 100 1.9e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163893
AA Change: R611L

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: R611L

DomainStartEndE-ValueType
Pfam:PTB 35 165 2.1e-46 PFAM
low complexity region 282 304 N/A INTRINSIC
SH3 480 535 2.62e-11 SMART
low complexity region 554 564 N/A INTRINSIC
PDB:1WWU|A 632 698 1e-19 PDB
low complexity region 701 715 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164987
SMART Domains Protein: ENSMUSP00000130665
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
low complexity region 15 25 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171445
AA Change: R672L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: R672L

DomainStartEndE-ValueType
Pfam:PTB 96 226 5.8e-46 PFAM
low complexity region 343 365 N/A INTRINSIC
SH3 541 596 2.62e-11 SMART
low complexity region 615 625 N/A INTRINSIC
PDB:1WWU|A 693 759 1e-19 PDB
low complexity region 762 776 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (78/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,186,063 (GRCm39) Q603* probably null Het
Adar A G 3: 89,647,516 (GRCm39) Y165C probably damaging Het
Afp A G 5: 90,651,500 (GRCm39) T372A probably benign Het
Asah1 T A 8: 41,800,061 (GRCm39) L184F probably damaging Het
Bltp1 A G 3: 37,067,132 (GRCm39) E3548G probably damaging Het
Bpifb2 A T 2: 153,731,046 (GRCm39) I206F possibly damaging Het
Btn1a1 C A 13: 23,648,741 (GRCm39) D31Y possibly damaging Het
C4b T A 17: 34,952,892 (GRCm39) D1110V probably damaging Het
Ccdc162 T A 10: 41,429,178 (GRCm39) D1901V probably damaging Het
Cd101 A G 3: 100,910,817 (GRCm39) V947A probably benign Het
Cd55b A T 1: 130,338,375 (GRCm39) S238T possibly damaging Het
Cdc25c T C 18: 34,866,329 (GRCm39) I437V possibly damaging Het
Cfap97 T C 8: 46,623,605 (GRCm39) S332P probably damaging Het
Chpf A G 1: 75,452,398 (GRCm39) L352P probably damaging Het
Cntln T A 4: 85,018,961 (GRCm39) M1217K possibly damaging Het
Cntrl A G 2: 35,052,053 (GRCm39) E1629G possibly damaging Het
Csnk1g2 T C 10: 80,474,396 (GRCm39) Y206H probably damaging Het
Cyp2c55 T A 19: 38,995,547 (GRCm39) W20R probably null Het
Dhx35 A T 2: 158,657,393 (GRCm39) H130L possibly damaging Het
Dnm1 A G 2: 32,202,741 (GRCm39) V54A probably damaging Het
Eea1 T A 10: 95,864,381 (GRCm39) S967T probably benign Het
Efcab3 A G 11: 104,820,772 (GRCm39) probably benign Het
Elf3 A T 1: 135,182,813 (GRCm39) I304N probably damaging Het
Fam163a A T 1: 155,954,862 (GRCm39) C96* probably null Het
Fancd2 T C 6: 113,540,129 (GRCm39) probably null Het
Fbxo3 C T 2: 103,858,274 (GRCm39) L23F possibly damaging Het
Fbxw14 A G 9: 109,114,367 (GRCm39) V121A possibly damaging Het
Fgd6 T A 10: 93,880,868 (GRCm39) V574D probably benign Het
Gask1b T C 3: 79,794,293 (GRCm39) S254P probably benign Het
Gbp11 A G 5: 105,479,251 (GRCm39) F124S probably damaging Het
Grin1 A T 2: 25,195,428 (GRCm39) probably benign Het
Grm2 T G 9: 106,531,345 (GRCm39) E48A probably benign Het
H2-M10.5 T A 17: 37,084,770 (GRCm39) Y165N probably benign Het
Hoxa13 A C 6: 52,236,976 (GRCm39) S172A probably benign Het
Ifih1 T A 2: 62,442,235 (GRCm39) K376N possibly damaging Het
Insrr C A 3: 87,720,386 (GRCm39) T1008K probably damaging Het
Itih1 A G 14: 30,655,414 (GRCm39) S594P probably damaging Het
Kidins220 T C 12: 25,106,914 (GRCm39) S1365P probably benign Het
Malrd1 A T 2: 15,570,241 (GRCm39) K158* probably null Het
Man2c1 G A 9: 57,045,279 (GRCm39) G504R probably damaging Het
Mbd1 T C 18: 74,406,890 (GRCm39) probably null Het
Micall2 G A 5: 139,702,025 (GRCm39) A323V probably benign Het
Mroh9 A C 1: 162,883,196 (GRCm39) F428V probably benign Het
Myo7b T A 18: 32,127,299 (GRCm39) probably benign Het
Niban1 A T 1: 151,591,463 (GRCm39) H535L possibly damaging Het
Obscn A T 11: 58,922,438 (GRCm39) V6567E probably damaging Het
Or1e28-ps1 A C 11: 73,615,230 (GRCm39) S207A unknown Het
Or1e33 A T 11: 73,738,167 (GRCm39) C261* probably null Het
Or2g25 T A 17: 37,970,760 (GRCm39) T155S probably benign Het
Or2y1d A T 11: 49,321,543 (GRCm39) Q80L probably benign Het
Or5h25 T A 16: 58,930,555 (GRCm39) R139S probably benign Het
Or8b53 A T 9: 38,667,385 (GRCm39) I134F possibly damaging Het
Pde4dip T C 3: 97,700,464 (GRCm39) D238G probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pgbd5 T A 8: 125,111,175 (GRCm39) Y172F probably benign Het
Pkd1 A G 17: 24,795,176 (GRCm39) T2288A probably damaging Het
Ppp6r2 T A 15: 89,137,239 (GRCm39) M1K probably null Het
Rc3h1 A G 1: 160,774,164 (GRCm39) T344A probably damaging Het
Rgs5 T C 1: 169,504,461 (GRCm39) V37A possibly damaging Het
Rgs9 A G 11: 109,139,815 (GRCm39) S17P possibly damaging Het
Rusc1 T A 3: 88,991,865 (GRCm39) D407V probably damaging Het
Rwdd1 T A 10: 33,895,383 (GRCm39) I18F possibly damaging Het
Satb2 C T 1: 56,910,470 (GRCm39) probably null Het
Sds A G 5: 120,621,659 (GRCm39) E267G probably damaging Het
Sema4b T A 7: 79,875,076 (GRCm39) V822E probably damaging Het
Sfxn5 A T 6: 85,266,176 (GRCm39) M107K probably damaging Het
Slc5a8 C T 10: 88,722,035 (GRCm39) probably benign Het
Sorbs1 T C 19: 40,387,048 (GRCm39) D6G probably damaging Het
Syt14 A C 1: 192,666,515 (GRCm39) probably benign Het
Vmn2r124 T G 17: 18,283,291 (GRCm39) Y328* probably null Het
Vmn2r86 T A 10: 130,289,672 (GRCm39) E74D probably benign Het
Vmo1 A C 11: 70,404,476 (GRCm39) L175W probably damaging Het
Vps13a G T 19: 16,683,247 (GRCm39) L982I possibly damaging Het
Wdr19 T C 5: 65,398,211 (GRCm39) V812A probably benign Het
Wdr27 T C 17: 15,103,908 (GRCm39) I733V probably benign Het
Wdr54 A T 6: 83,132,739 (GRCm39) H38Q probably damaging Het
Wdr76 G A 2: 121,341,104 (GRCm39) V50I probably damaging Het
Zfp930 T A 8: 69,680,541 (GRCm39) N59K probably damaging Het
Zfyve9 T C 4: 108,501,558 (GRCm39) N1218S possibly damaging Het
Other mutations in Eps8l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Eps8l1 APN 7 4,481,919 (GRCm39) utr 3 prime probably benign
IGL01455:Eps8l1 APN 7 4,481,922 (GRCm39) utr 3 prime probably benign
IGL01872:Eps8l1 APN 7 4,475,295 (GRCm39) splice site probably benign
IGL02343:Eps8l1 APN 7 4,475,123 (GRCm39) missense probably benign 0.04
IGL02585:Eps8l1 APN 7 4,472,212 (GRCm39) missense probably damaging 1.00
IGL02596:Eps8l1 APN 7 4,473,871 (GRCm39) missense probably damaging 0.99
IGL02673:Eps8l1 APN 7 4,481,731 (GRCm39) missense probably damaging 1.00
IGL03117:Eps8l1 APN 7 4,473,886 (GRCm39) missense probably damaging 1.00
Anamnestic UTSW 7 4,473,873 (GRCm39) missense probably damaging 0.98
souvenir UTSW 7 4,480,895 (GRCm39) missense possibly damaging 0.56
PIT4142001:Eps8l1 UTSW 7 4,474,414 (GRCm39) missense probably benign 0.00
PIT4151001:Eps8l1 UTSW 7 4,474,414 (GRCm39) missense probably benign 0.00
PIT4480001:Eps8l1 UTSW 7 4,474,414 (GRCm39) missense probably benign 0.00
R0015:Eps8l1 UTSW 7 4,480,556 (GRCm39) splice site probably benign
R0599:Eps8l1 UTSW 7 4,480,956 (GRCm39) missense possibly damaging 0.90
R0686:Eps8l1 UTSW 7 4,480,449 (GRCm39) missense probably benign 0.36
R0827:Eps8l1 UTSW 7 4,480,388 (GRCm39) missense possibly damaging 0.86
R1015:Eps8l1 UTSW 7 4,472,932 (GRCm39) missense probably damaging 1.00
R1447:Eps8l1 UTSW 7 4,477,055 (GRCm39) missense probably damaging 1.00
R1490:Eps8l1 UTSW 7 4,473,888 (GRCm39) missense probably damaging 1.00
R1527:Eps8l1 UTSW 7 4,474,393 (GRCm39) missense probably benign
R1553:Eps8l1 UTSW 7 4,480,448 (GRCm39) missense probably damaging 0.98
R1763:Eps8l1 UTSW 7 4,474,822 (GRCm39) missense probably benign 0.43
R1863:Eps8l1 UTSW 7 4,468,359 (GRCm39) utr 5 prime probably benign
R2357:Eps8l1 UTSW 7 4,473,354 (GRCm39) missense probably benign 0.06
R3153:Eps8l1 UTSW 7 4,474,798 (GRCm39) missense probably damaging 1.00
R4082:Eps8l1 UTSW 7 4,473,797 (GRCm39) splice site probably null
R4539:Eps8l1 UTSW 7 4,481,623 (GRCm39) missense probably damaging 1.00
R4684:Eps8l1 UTSW 7 4,476,944 (GRCm39) missense probably damaging 0.99
R4930:Eps8l1 UTSW 7 4,463,915 (GRCm39) missense possibly damaging 0.66
R4931:Eps8l1 UTSW 7 4,474,240 (GRCm39) missense possibly damaging 0.95
R5245:Eps8l1 UTSW 7 4,473,873 (GRCm39) missense probably damaging 0.98
R5247:Eps8l1 UTSW 7 4,473,401 (GRCm39) missense probably damaging 1.00
R5305:Eps8l1 UTSW 7 4,480,895 (GRCm39) missense possibly damaging 0.56
R5420:Eps8l1 UTSW 7 4,473,160 (GRCm39) splice site probably null
R5620:Eps8l1 UTSW 7 4,463,945 (GRCm39) missense possibly damaging 0.83
R5705:Eps8l1 UTSW 7 4,473,034 (GRCm39) missense probably benign 0.00
R6063:Eps8l1 UTSW 7 4,474,296 (GRCm39) missense possibly damaging 0.56
R6909:Eps8l1 UTSW 7 4,472,899 (GRCm39) nonsense probably null
R7096:Eps8l1 UTSW 7 4,477,190 (GRCm39) missense probably benign 0.01
R7136:Eps8l1 UTSW 7 4,480,403 (GRCm39) missense probably damaging 1.00
R7144:Eps8l1 UTSW 7 4,475,184 (GRCm39) missense probably damaging 1.00
R7381:Eps8l1 UTSW 7 4,473,437 (GRCm39) splice site probably null
R7539:Eps8l1 UTSW 7 4,473,036 (GRCm39) missense probably damaging 1.00
R7784:Eps8l1 UTSW 7 4,475,121 (GRCm39) missense probably damaging 1.00
R7833:Eps8l1 UTSW 7 4,471,866 (GRCm39) missense possibly damaging 0.76
R8190:Eps8l1 UTSW 7 4,474,297 (GRCm39) missense probably benign 0.05
R8311:Eps8l1 UTSW 7 4,474,817 (GRCm39) missense probably damaging 1.00
R8549:Eps8l1 UTSW 7 4,473,853 (GRCm39) missense probably damaging 1.00
R8974:Eps8l1 UTSW 7 4,474,817 (GRCm39) missense probably damaging 1.00
R9003:Eps8l1 UTSW 7 4,464,016 (GRCm39) missense possibly damaging 0.92
R9023:Eps8l1 UTSW 7 4,477,042 (GRCm39) nonsense probably null
R9131:Eps8l1 UTSW 7 4,480,573 (GRCm39) missense
R9517:Eps8l1 UTSW 7 4,480,636 (GRCm39) missense probably damaging 1.00
R9653:Eps8l1 UTSW 7 4,481,886 (GRCm39) missense unknown
X0060:Eps8l1 UTSW 7 4,473,850 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TTTTCAGGCTCCACTCTGGG -3'
(R):5'- CCAATCAGAGCCTGTCTTTGG -3'

Sequencing Primer
(F):5'- TCCACTCTGGGCAAGCTAGAG -3'
(R):5'- GTAGCAAATTGCCCTACAGTTTTC -3'
Posted On 2021-08-31