Incidental Mutation 'IGL03279:Egfl7'
ID 415538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egfl7
Ensembl Gene ENSMUSG00000026921
Gene Name EGF-like domain 7
Synonyms vascular endothelial-statin, VE-statin, Zneu1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # IGL03279
Quality Score
Status
Chromosome 2
Chromosomal Location 26471095-26482694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26480719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 126 (H126N)
Ref Sequence ENSEMBL: ENSMUSP00000134034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028286] [ENSMUST00000100290] [ENSMUST00000102907] [ENSMUST00000139801] [ENSMUST00000150404] [ENSMUST00000166920] [ENSMUST00000145575] [ENSMUST00000152713] [ENSMUST00000149789] [ENSMUST00000152988] [ENSMUST00000174066] [ENSMUST00000174211] [ENSMUST00000173920]
AlphaFold Q9QXT5
Predicted Effect probably benign
Transcript: ENSMUST00000028286
SMART Domains Protein: ENSMUSP00000028286
Gene: ENSMUSG00000026922

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 28 50 N/A INTRINSIC
PlsC 92 207 5.17e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083606
Predicted Effect probably benign
Transcript: ENSMUST00000100290
AA Change: H126N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000097863
Gene: ENSMUSG00000026921
AA Change: H126N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EMI 31 100 2.5e-19 PFAM
EGF 110 139 2.6e-4 SMART
EGF_like 144 181 4.2e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102907
AA Change: H126N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000099971
Gene: ENSMUSG00000026921
AA Change: H126N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EMI 32 98 5.6e-21 PFAM
EGF 110 139 2.6e-4 SMART
EGF_like 144 181 4.2e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131940
Predicted Effect unknown
Transcript: ENSMUST00000139801
AA Change: D152E
SMART Domains Protein: ENSMUSP00000123465
Gene: ENSMUSG00000026921
AA Change: D152E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EMI 31 100 6.9e-20 PFAM
low complexity region 101 125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150404
AA Change: H126N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000115482
Gene: ENSMUSG00000026921
AA Change: H126N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EMI 31 100 2.7e-19 PFAM
EGF 110 139 2.6e-4 SMART
EGF_like 144 181 4.2e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166920
AA Change: H126N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128741
Gene: ENSMUSG00000026921
AA Change: H126N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EMI 31 100 2.7e-19 PFAM
EGF 110 139 2.6e-4 SMART
EGF_like 144 181 4.2e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145575
AA Change: H126N

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000118924
Gene: ENSMUSG00000026921
AA Change: H126N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EMI 31 100 8e-20 PFAM
EGF 110 139 2.6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172683
Predicted Effect probably benign
Transcript: ENSMUST00000152713
Predicted Effect probably benign
Transcript: ENSMUST00000149789
Predicted Effect probably benign
Transcript: ENSMUST00000152988
Predicted Effect unknown
Transcript: ENSMUST00000174066
AA Change: T48K
SMART Domains Protein: ENSMUSP00000133799
Gene: ENSMUSG00000092356
AA Change: T48K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 64 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174211
AA Change: H126N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134034
Gene: ENSMUSG00000026921
AA Change: H126N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EMI 31 100 2.7e-19 PFAM
EGF 110 139 2.6e-4 SMART
EGF_like 144 181 4.2e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174572
Predicted Effect probably benign
Transcript: ENSMUST00000174656
Predicted Effect probably benign
Transcript: ENSMUST00000173920
SMART Domains Protein: ENSMUSP00000134503
Gene: ENSMUSG00000026921

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EMI 31 100 3e-20 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 secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality with absent heartbeat and systemic edema, delayed vasculogenesis, decreased angiogenesis, abnormal adult vasculature, and low-level hypoxia. Mice homozygous for a null allele that does not disrupt Mirn126 expression are normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 119,904,504 (GRCm39) D224V probably damaging Het
Abca4 C A 3: 121,935,381 (GRCm39) N1526K probably benign Het
Aif1 T A 17: 35,390,523 (GRCm39) K76* probably null Het
Arap2 A G 5: 62,779,253 (GRCm39) S1446P probably damaging Het
Cyb5rl A T 4: 106,941,325 (GRCm39) E250V possibly damaging Het
Dock3 T C 9: 106,788,447 (GRCm39) probably benign Het
Dppa2 A G 16: 48,132,028 (GRCm39) T42A possibly damaging Het
Drosha C T 15: 12,859,478 (GRCm39) P562L probably benign Het
Gm5852 T C 3: 93,634,584 (GRCm39) noncoding transcript Het
Gpr161 T C 1: 165,138,098 (GRCm39) F228S probably damaging Het
Grid1 T A 14: 34,667,722 (GRCm39) M83K probably damaging Het
Gsdma2 T C 11: 98,548,549 (GRCm39) S434P unknown Het
Hao2 T A 3: 98,787,712 (GRCm39) N239I possibly damaging Het
Hsd17b14 A T 7: 45,215,617 (GRCm39) I206F possibly damaging Het
Kansl1l A T 1: 66,774,825 (GRCm39) V667E probably damaging Het
Kdm3a T C 6: 71,588,659 (GRCm39) D450G probably benign Het
Lmo7 C A 14: 102,137,944 (GRCm39) A882E probably benign Het
P4ha3 A G 7: 99,949,893 (GRCm39) Y254C probably damaging Het
Pcdh15 A G 10: 74,152,904 (GRCm39) Y408C probably damaging Het
Pglyrp3 T C 3: 91,933,834 (GRCm39) Y160H probably damaging Het
Pnma5 G A X: 72,079,605 (GRCm39) T359I probably benign Het
Ptbp3 A T 4: 59,476,937 (GRCm39) H440Q possibly damaging Het
Rbx1 A G 15: 81,352,399 (GRCm39) N41S probably damaging Het
Rpl3 G A 15: 79,962,560 (GRCm39) T340I probably benign Het
Scrn1 G A 6: 54,525,322 (GRCm39) R16* probably null Het
Sema6a A T 18: 47,433,157 (GRCm39) C91* probably null Het
Slco6d1 T A 1: 98,394,405 (GRCm39) V363E probably damaging Het
Stk38 A G 17: 29,203,179 (GRCm39) probably benign Het
Tanc2 G A 11: 105,803,918 (GRCm39) probably null Het
Thada A G 17: 84,742,988 (GRCm39) F812S probably benign Het
Tubb4b-ps1 A G 5: 7,229,630 (GRCm39) probably benign Het
Veph1 T C 3: 66,162,443 (GRCm39) T72A probably damaging Het
Vps52 T A 17: 34,176,848 (GRCm39) D67E probably damaging Het
Other mutations in Egfl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4362001:Egfl7 UTSW 2 26,481,052 (GRCm39) missense probably benign
R0607:Egfl7 UTSW 2 26,479,452 (GRCm39) missense probably damaging 1.00
R0678:Egfl7 UTSW 2 26,480,952 (GRCm39) missense probably benign 0.02
R2404:Egfl7 UTSW 2 26,479,162 (GRCm39) missense possibly damaging 0.88
R4921:Egfl7 UTSW 2 26,480,992 (GRCm39) missense probably benign 0.05
R5572:Egfl7 UTSW 2 26,481,703 (GRCm39) missense possibly damaging 0.92
R7332:Egfl7 UTSW 2 26,480,725 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02