Incidental Mutation 'IGL01455:Eps8l1'
ID 84761
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01455
Quality Score
Status
Chromosome 7
Chromosomal Location 4463673-4483486 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to A at 4481922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000086372] [ENSMUST00000124248] [ENSMUST00000171445] [ENSMUST00000163893] [ENSMUST00000164987] [ENSMUST00000163137]
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 unknown
Transcript: ENSMUST00000086372
AA Change: I716N
SMART Domains Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: I716N

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 noncoding transcript
Transcript: ENSMUST00000127329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153101
Predicted Effect unknown
Transcript: ENSMUST00000171445
AA Change: I777N
SMART Domains Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: I777N

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
Predicted Effect unknown
Transcript: ENSMUST00000163893
AA Change: I716N
SMART Domains Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: I716N

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 noncoding transcript
Transcript: ENSMUST00000168924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167068
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 benign
Transcript: ENSMUST00000163137
SMART Domains Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
Pfam:PTB 35 100 1.9e-22 PFAM
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,214,131 (GRCm39) D87G possibly damaging Het
Adgra3 G A 5: 50,144,899 (GRCm39) R565* probably null Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Arb2a A T 13: 78,050,766 (GRCm39) probably benign Het
B3gnt2 A T 11: 22,787,042 (GRCm39) W49R probably damaging Het
Ccdc112 T A 18: 46,426,511 (GRCm39) K137N possibly damaging Het
Ccdc117 G T 11: 5,484,297 (GRCm39) T181K possibly damaging Het
Cfh T C 1: 140,033,277 (GRCm39) K756E possibly damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cyp2c29 T A 19: 39,317,561 (GRCm39) I349K possibly damaging Het
Dcaf15 T C 8: 84,825,219 (GRCm39) T434A probably benign Het
Entpd5 T C 12: 84,441,451 (GRCm39) I106V probably benign Het
Erbin G T 13: 103,995,895 (GRCm39) P269Q probably damaging Het
Fbxw22 C T 9: 109,214,062 (GRCm39) M251I probably benign Het
Fgd4 T A 16: 16,308,354 (GRCm39) T9S probably benign Het
Haus8 T C 8: 71,705,875 (GRCm39) I270V probably benign Het
Herc4 T A 10: 63,121,922 (GRCm39) probably null Het
Hspg2 G A 4: 137,281,128 (GRCm39) V3367M probably damaging Het
Htr1f A T 16: 64,746,385 (GRCm39) F302L probably damaging Het
Inpp5f T C 7: 128,279,773 (GRCm39) C458R probably damaging Het
Klhl18 T C 9: 110,261,511 (GRCm39) E411G probably damaging Het
Krt20 A T 11: 99,322,769 (GRCm39) F289I probably benign Het
Mical1 T C 10: 41,355,065 (GRCm39) probably null Het
Nav1 T C 1: 135,397,373 (GRCm39) D932G probably benign Het
Nme4 A T 17: 26,311,036 (GRCm39) D176E probably benign Het
Nox4 C T 7: 87,025,424 (GRCm39) S517L possibly damaging Het
Or1j13 A T 2: 36,369,368 (GRCm39) L258H probably damaging Het
Pate8 T A 9: 36,492,659 (GRCm39) H82L probably benign Het
Pip5k1a T C 3: 94,975,471 (GRCm39) D333G probably benign Het
Polb T C 8: 23,143,088 (GRCm39) Y36C probably damaging Het
Spta1 T C 1: 174,030,877 (GRCm39) I953T possibly damaging Het
Sptb A T 12: 76,659,686 (GRCm39) D1071E probably damaging Het
Stxbp3-ps T C 19: 9,535,371 (GRCm39) noncoding transcript Het
Tmcc3 A T 10: 94,422,617 (GRCm39) I356F probably damaging Het
Tmem262 G T 19: 6,130,189 (GRCm39) R6L probably damaging Het
Tnks C A 8: 35,408,054 (GRCm39) V225L probably damaging Het
Other mutations in Eps8l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Eps8l1 APN 7 4,481,919 (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
R8960:Eps8l1 UTSW 7 4,481,214 (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
Posted On 2013-11-11