Incidental Mutation 'IGL03279:Egfl7'
ID415538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egfl7
Ensembl Gene ENSMUSG00000026921
Gene NameEGF-like domain 7
SynonymsZneu1, vascular endothelial-statin, VE-statin
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.314) question?
Stock #IGL03279
Quality Score
Status
Chromosome2
Chromosomal Location26580014-26593120 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 26590707 bp
ZygosityHeterozygous
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] [ENSMUST00000145575] [ENSMUST00000174066] [ENSMUST00000150404] [ENSMUST00000166920] [ENSMUST00000174211] [ENSMUST00000173920] [ENSMUST00000152713] [ENSMUST00000149789] [ENSMUST00000152988]
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 noncoding transcript
Transcript: ENSMUST00000140386
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: ENSMUST00000147351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149460
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: 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: 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 noncoding transcript
Transcript: ENSMUST00000173777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172683
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
Predicted Effect probably benign
Transcript: ENSMUST00000152713
Predicted Effect probably benign
Transcript: ENSMUST00000149789
Predicted Effect probably benign
Transcript: ENSMUST00000152988
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: 120,013,678 D224V probably damaging Het
Abca4 C A 3: 122,141,732 N1526K probably benign Het
Aif1 T A 17: 35,171,547 K76* probably null Het
Arap2 A G 5: 62,621,910 S1446P probably damaging Het
Cyb5rl A T 4: 107,084,128 E250V possibly damaging Het
Dock3 T C 9: 106,911,248 probably benign Het
Dppa2 A G 16: 48,311,665 T42A possibly damaging Het
Drosha C T 15: 12,859,392 P562L probably benign Het
Gm5852 T C 3: 93,727,277 noncoding transcript Het
Gpr161 T C 1: 165,310,529 F228S probably damaging Het
Grid1 T A 14: 34,945,765 M83K probably damaging Het
Gsdma2 T C 11: 98,657,723 S434P unknown Het
Hao2 T A 3: 98,880,396 N239I possibly damaging Het
Hsd17b14 A T 7: 45,566,193 I206F possibly damaging Het
Kansl1l A T 1: 66,735,666 V667E probably damaging Het
Kdm3a T C 6: 71,611,675 D450G probably benign Het
Lmo7 C A 14: 101,900,508 A882E probably benign Het
P4ha3 A G 7: 100,300,686 Y254C probably damaging Het
Pcdh15 A G 10: 74,317,072 Y408C probably damaging Het
Pglyrp3 T C 3: 92,026,527 Y160H probably damaging Het
Pnma5 G A X: 73,035,999 T359I probably benign Het
Ptbp3 A T 4: 59,476,937 H440Q possibly damaging Het
Rbx1 A G 15: 81,468,198 N41S probably damaging Het
Rpl3 G A 15: 80,078,359 T340I probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Sema6a A T 18: 47,300,090 C91* probably null Het
Slco6d1 T A 1: 98,466,680 V363E probably damaging Het
Stk38 A G 17: 28,984,205 probably benign Het
Tanc2 G A 11: 105,913,092 probably null Het
Thada A G 17: 84,435,560 F812S probably benign Het
Tubb4b-ps1 A G 5: 7,179,630 probably benign Het
Veph1 T C 3: 66,255,022 T72A probably damaging Het
Vps52 T A 17: 33,957,874 D67E probably damaging Het
Other mutations in Egfl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4362001:Egfl7 UTSW 2 26591040 missense probably benign
R0607:Egfl7 UTSW 2 26589440 missense probably damaging 1.00
R0678:Egfl7 UTSW 2 26590940 missense probably benign 0.02
R2404:Egfl7 UTSW 2 26589150 missense possibly damaging 0.88
R4921:Egfl7 UTSW 2 26590980 missense probably benign 0.05
R5572:Egfl7 UTSW 2 26591691 missense possibly damaging 0.92
R7332:Egfl7 UTSW 2 26590713 missense probably benign 0.03
Posted On2016-08-02