Incidental Mutation 'IGL01862:Efemp1'
ID 178386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efemp1
Ensembl Gene ENSMUSG00000020467
Gene Name epidermal growth factor-containing fibulin-like extracellular matrix protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01862
Quality Score
Status
Chromosome 11
Chromosomal Location 28803204-28876743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28871428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 342 (N342K)
Ref Sequence ENSEMBL: ENSMUSP00000020759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020759]
AlphaFold Q8BPB5
Predicted Effect probably damaging
Transcript: ENSMUST00000020759
AA Change: N342K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020759
Gene: ENSMUSG00000020467
AA Change: N342K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
EGF_like 44 76 9.53e-2 SMART
low complexity region 87 104 N/A INTRINSIC
EGF_CA 173 213 5.78e-11 SMART
EGF_CA 214 253 2.35e-11 SMART
EGF_CA 254 293 1.22e-9 SMART
EGF_CA 294 333 1.35e-11 SMART
EGF_like 334 378 3.49e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124103
Predicted Effect unknown
Transcript: ENSMUST00000139713
AA Change: N46K
SMART Domains Protein: ENSMUSP00000114757
Gene: ENSMUSG00000020467
AA Change: N46K

DomainStartEndE-ValueType
EGF 2 38 6.86e-4 SMART
EGF_like 39 83 3.49e-3 SMART
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 member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. Mice homozygous for a single amino acid substitution develop deposits below the retinal pigment epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,837,997 (GRCm39) S1085* probably null Het
Akap9 T G 5: 4,001,705 (GRCm39) S94A probably damaging Het
Akap9 T A 5: 4,115,856 (GRCm39) N3425K probably damaging Het
Anapc7 T A 5: 122,578,182 (GRCm39) I389N probably benign Het
Aqp7 G A 4: 41,045,321 (GRCm39) R20* probably null Het
Cacna1h C T 17: 25,602,457 (GRCm39) G1524R probably damaging Het
Cacng4 T C 11: 107,685,196 (GRCm39) Y32C probably damaging Het
Cep120 A C 18: 53,847,839 (GRCm39) S673R probably benign Het
Cep162 T C 9: 87,135,986 (GRCm39) E19G possibly damaging Het
Cpxm2 C T 7: 131,661,540 (GRCm39) V416I probably benign Het
Dapk1 A G 13: 60,874,424 (GRCm39) T427A probably benign Het
Ecm1 A T 3: 95,641,586 (GRCm39) D549E probably benign Het
Erc2 T C 14: 27,993,526 (GRCm39) probably benign Het
Fhip2b C T 14: 70,825,130 (GRCm39) R402H probably benign Het
Galnt13 T C 2: 54,747,926 (GRCm39) V269A probably damaging Het
Gm6465 T G 5: 11,899,020 (GRCm39) L171R probably damaging Het
Gpatch1 A G 7: 34,994,703 (GRCm39) V521A probably benign Het
Heatr5b A T 17: 79,103,914 (GRCm39) V1087E possibly damaging Het
Ikzf2 A T 1: 69,578,057 (GRCm39) V484D probably damaging Het
Ints4 T A 7: 97,190,360 (GRCm39) V953E probably damaging Het
Iqce T C 5: 140,685,480 (GRCm39) D15G possibly damaging Het
Kif3a T A 11: 53,461,368 (GRCm39) N4K possibly damaging Het
Lrch4 A T 5: 137,635,271 (GRCm39) I254F probably damaging Het
Ly75 A T 2: 60,129,516 (GRCm39) V1623D probably damaging Het
Mapt T A 11: 104,180,828 (GRCm39) probably benign Het
Mast1 A T 8: 85,639,875 (GRCm39) probably null Het
Mcc G T 18: 44,892,363 (GRCm39) Q84K probably benign Het
Mgat4f G A 1: 134,318,349 (GRCm39) V374I probably benign Het
Mtfr2 G A 10: 20,224,149 (GRCm39) V28M probably benign Het
Myh8 T A 11: 67,180,520 (GRCm39) Y585* probably null Het
Napsa T C 7: 44,231,917 (GRCm39) V202A probably damaging Het
Nsd2 A G 5: 34,001,080 (GRCm39) K199R probably null Het
Ntpcr C T 8: 126,462,837 (GRCm39) A18V probably benign Het
Or2aj4 A T 16: 19,385,426 (GRCm39) M69K probably damaging Het
Or2g25 G T 17: 37,970,368 (GRCm39) N285K probably damaging Het
Or56b35 T A 7: 104,963,439 (GRCm39) I76N probably damaging Het
Or5g9 G T 2: 85,552,472 (GRCm39) C241F probably damaging Het
Or8b9 A G 9: 37,766,477 (GRCm39) D121G probably damaging Het
Os9 A G 10: 126,935,573 (GRCm39) V299A probably benign Het
Pcdhb7 T C 18: 37,476,915 (GRCm39) S684P possibly damaging Het
Phf19 A C 2: 34,787,067 (GRCm39) probably null Het
Pkd1l3 G A 8: 110,357,908 (GRCm39) probably null Het
Pkhd1 A G 1: 20,429,134 (GRCm39) I2422T probably damaging Het
Plxna2 T A 1: 194,326,258 (GRCm39) V64E possibly damaging Het
Psme4 T A 11: 30,762,038 (GRCm39) C459* probably null Het
Ptk6 T C 2: 180,841,433 (GRCm39) S159G probably benign Het
Rhd T C 4: 134,617,650 (GRCm39) I329T possibly damaging Het
Scfd1 A G 12: 51,492,494 (GRCm39) Y601C probably damaging Het
Shroom3 T C 5: 93,110,148 (GRCm39) S1753P probably damaging Het
Slc8a1 A C 17: 81,749,630 (GRCm39) probably null Het
Spg7 T A 8: 123,803,669 (GRCm39) L233Q probably damaging Het
Strip1 C A 3: 107,529,198 (GRCm39) R353L probably damaging Het
Ubr1 T C 2: 120,764,823 (GRCm39) N544D possibly damaging Het
Ubr4 A G 4: 139,204,469 (GRCm39) T4794A possibly damaging Het
Usp24 A G 4: 106,266,095 (GRCm39) probably benign Het
Vmn1r193 A T 13: 22,403,984 (GRCm39) C3S probably benign Het
Yju2b G T 8: 84,987,163 (GRCm39) probably benign Het
Zdhhc5 C T 2: 84,520,836 (GRCm39) R447H probably benign Het
Zfp202 A G 9: 40,123,124 (GRCm39) I629V probably benign Het
Zfp462 T A 4: 55,023,441 (GRCm39) C990S probably damaging Het
Other mutations in Efemp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Efemp1 APN 11 28,876,223 (GRCm39) missense probably benign 0.32
IGL02568:Efemp1 APN 11 28,866,971 (GRCm39) critical splice donor site probably null
IGL03175:Efemp1 APN 11 28,876,259 (GRCm39) missense probably benign 0.04
IGL03014:Efemp1 UTSW 11 28,876,218 (GRCm39) missense probably damaging 0.96
R0973:Efemp1 UTSW 11 28,804,538 (GRCm39) missense probably damaging 1.00
R0973:Efemp1 UTSW 11 28,804,538 (GRCm39) missense probably damaging 1.00
R0974:Efemp1 UTSW 11 28,804,538 (GRCm39) missense probably damaging 1.00
R1678:Efemp1 UTSW 11 28,866,942 (GRCm39) missense probably benign 0.00
R1701:Efemp1 UTSW 11 28,871,750 (GRCm39) missense possibly damaging 0.68
R1831:Efemp1 UTSW 11 28,871,442 (GRCm39) missense possibly damaging 0.91
R2016:Efemp1 UTSW 11 28,871,613 (GRCm39) missense probably damaging 1.00
R2017:Efemp1 UTSW 11 28,871,613 (GRCm39) missense probably damaging 1.00
R2024:Efemp1 UTSW 11 28,864,696 (GRCm39) missense possibly damaging 0.85
R2025:Efemp1 UTSW 11 28,864,696 (GRCm39) missense possibly damaging 0.85
R2027:Efemp1 UTSW 11 28,864,696 (GRCm39) missense possibly damaging 0.85
R2084:Efemp1 UTSW 11 28,865,763 (GRCm39) missense probably damaging 1.00
R2396:Efemp1 UTSW 11 28,817,941 (GRCm39) missense possibly damaging 0.83
R4803:Efemp1 UTSW 11 28,871,795 (GRCm39) missense possibly damaging 0.84
R4817:Efemp1 UTSW 11 28,876,241 (GRCm39) missense probably damaging 1.00
R5201:Efemp1 UTSW 11 28,864,590 (GRCm39) missense probably benign 0.05
R5297:Efemp1 UTSW 11 28,817,868 (GRCm39) missense probably damaging 0.99
R5534:Efemp1 UTSW 11 28,817,758 (GRCm39) missense probably damaging 1.00
R5839:Efemp1 UTSW 11 28,871,418 (GRCm39) missense possibly damaging 0.95
R6037:Efemp1 UTSW 11 28,871,760 (GRCm39) missense probably damaging 1.00
R6037:Efemp1 UTSW 11 28,871,760 (GRCm39) missense probably damaging 1.00
R6314:Efemp1 UTSW 11 28,864,603 (GRCm39) missense probably benign 0.12
R7067:Efemp1 UTSW 11 28,817,926 (GRCm39) missense probably damaging 1.00
R7396:Efemp1 UTSW 11 28,817,501 (GRCm39) missense possibly damaging 0.92
R8223:Efemp1 UTSW 11 28,804,528 (GRCm39) missense probably benign 0.13
R8243:Efemp1 UTSW 11 28,871,690 (GRCm39) missense probably damaging 0.99
R8279:Efemp1 UTSW 11 28,871,795 (GRCm39) missense possibly damaging 0.52
R8313:Efemp1 UTSW 11 28,860,691 (GRCm39) missense probably benign 0.39
R8378:Efemp1 UTSW 11 28,871,765 (GRCm39) missense probably damaging 0.98
Z1177:Efemp1 UTSW 11 28,817,909 (GRCm39) missense probably benign 0.09
Posted On 2014-05-07