Incidental Mutation 'R7067:Efemp1'
ID 548645
Institutional Source Beutler Lab
Gene Symbol Efemp1
Ensembl Gene ENSMUSG00000020467
Gene Name epidermal growth factor-containing fibulin-like extracellular matrix protein 1
Synonyms
MMRRC Submission 045163-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7067 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 28803204-28876743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28817926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 135 (N135I)
Ref Sequence ENSEMBL: ENSMUSP00000020759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020759]
AlphaFold Q8BPB5
Predicted Effect probably damaging
Transcript: ENSMUST00000020759
AA Change: N135I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020759
Gene: ENSMUSG00000020467
AA Change: N135I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,921 (GRCm39) S72C probably damaging Het
Abca13 A G 11: 9,241,845 (GRCm39) D1236G probably benign Het
Abcc6 T C 7: 45,668,114 (GRCm39) N165D probably benign Het
Aebp1 A G 11: 5,816,431 (GRCm39) probably null Het
Afg2a C T 3: 37,485,847 (GRCm39) Q190* probably null Het
Anapc4 A G 5: 53,019,577 (GRCm39) T580A probably benign Het
Apob T C 12: 8,059,423 (GRCm39) I2602T probably damaging Het
Arap2 A G 5: 62,811,387 (GRCm39) probably null Het
Asap3 T A 4: 135,968,673 (GRCm39) probably null Het
Bend4 A G 5: 67,557,611 (GRCm39) Y402H probably damaging Het
Ccn2 A G 10: 24,472,873 (GRCm39) Y261C probably benign Het
Crtc2 A G 3: 90,167,489 (GRCm39) N271S probably benign Het
Csf2rb2 A T 15: 78,176,694 (GRCm39) W233R probably damaging Het
Cyp2u1 G A 3: 131,087,202 (GRCm39) L460F probably damaging Het
Dnm3 A G 1: 162,148,540 (GRCm39) L277P probably damaging Het
Elapor2 G T 5: 9,316,295 (GRCm39) A9S possibly damaging Het
Fsip2 T A 2: 82,811,078 (GRCm39) S2466T possibly damaging Het
Gal3st2 C T 1: 93,802,447 (GRCm39) A276V possibly damaging Het
Gm47985 A T 1: 151,059,241 (GRCm39) D294V unknown Het
Golga1 A T 2: 38,937,731 (GRCm39) D104E probably benign Het
Hnrnpr C T 4: 136,054,704 (GRCm39) A219V probably damaging Het
Hsd3b7 T C 7: 127,399,888 (GRCm39) probably null Het
Hspa8 T C 9: 40,715,921 (GRCm39) I562T probably damaging Het
Htra4 C T 8: 25,523,717 (GRCm39) V283M probably damaging Het
Il36rn C T 2: 24,167,541 (GRCm39) R11* probably null Het
Iqcd A G 5: 120,743,212 (GRCm39) T325A probably damaging Het
Kif23 A T 9: 61,832,271 (GRCm39) M624K probably benign Het
Krt25 G T 11: 99,208,209 (GRCm39) Q340K probably benign Het
Lamp3 T A 16: 19,518,413 (GRCm39) N275Y probably damaging Het
Lpin2 A C 17: 71,551,853 (GRCm39) K789T possibly damaging Het
Mroh2b T C 15: 4,929,986 (GRCm39) I24T probably benign Het
Muc16 T A 9: 18,569,547 (GRCm39) I991F unknown Het
Ntf5 T A 7: 45,065,048 (GRCm39) L60Q probably damaging Het
Nuak1 A G 10: 84,276,158 (GRCm39) S22P possibly damaging Het
Obox8 T C 7: 14,066,979 (GRCm39) T22A possibly damaging Het
Or8k21 T A 2: 86,144,911 (GRCm39) T240S probably damaging Het
Pde8a T C 7: 80,967,074 (GRCm39) V405A probably benign Het
Phc2 T C 4: 128,640,934 (GRCm39) S147P probably benign Het
Pole G T 5: 110,482,084 (GRCm39) G142V probably damaging Het
Poli G A 18: 70,642,488 (GRCm39) Q508* probably null Het
Repin1 T A 6: 48,574,850 (GRCm39) L537* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Slc30a2 T A 4: 134,071,529 (GRCm39) probably null Het
Slit3 A G 11: 35,399,057 (GRCm39) S141G probably benign Het
Spon2 A G 5: 33,371,958 (GRCm39) S283P probably damaging Het
Srgap3 A T 6: 112,734,266 (GRCm39) probably benign Het
Syde2 A G 3: 145,694,019 (GRCm39) D89G probably benign Het
Syne1 A G 10: 5,184,586 (GRCm39) I4099T probably damaging Het
Syt5 T C 7: 4,546,075 (GRCm39) D105G probably benign Het
Tlx3 C T 11: 33,153,204 (GRCm39) G86S probably damaging Het
Trim24 A T 6: 37,934,775 (GRCm39) probably null Het
Umodl1 G A 17: 31,201,246 (GRCm39) V392I probably damaging Het
Unc80 C A 1: 66,685,731 (GRCm39) T2285K possibly damaging Het
Vars1 G A 17: 35,230,455 (GRCm39) V513I probably damaging Het
Vmn1r87 T A 7: 12,865,849 (GRCm39) Q146L probably benign Het
Vmn2r62 T C 7: 42,414,302 (GRCm39) I714V probably benign Het
Xbp1 T A 11: 5,474,275 (GRCm39) S159T probably damaging Het
Xrn1 T A 9: 95,851,565 (GRCm39) H194Q probably damaging Het
Zc3h4 A T 7: 16,162,976 (GRCm39) K459* probably null Het
Zdhhc6 G A 19: 55,292,871 (GRCm39) R292* probably null Het
Zfp383 T A 7: 29,608,071 (GRCm39) M1K probably null Het
Zfp703 A G 8: 27,469,044 (GRCm39) D236G probably damaging Het
Other mutations in Efemp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Efemp1 APN 11 28,876,223 (GRCm39) missense probably benign 0.32
IGL01862:Efemp1 APN 11 28,871,428 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- TGGAGGATATCTCTGCCTTCC -3'
(R):5'- AGCTCTGTCCTTAACACCTGTATG -3'

Sequencing Primer
(F):5'- GGAGGATATCTCTGCCTTCCTAAAAC -3'
(R):5'- ACTTGGCTGGATACTCGAAC -3'
Posted On 2019-05-13