Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Egfl7'

554596

Institutional Source

Beutler Lab

Gene Symbol

Egfl7

Ensembl Gene

ENSMUSG00000026921

Gene Name

EGF-like domain 7

Synonyms

Zneu1, vascular endothelial-statin, VE-statin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

PIT4362001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26580014-26593120 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26591040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 188 (P188L)

Ref Sequence

ENSEMBL: ENSMUSP00000099971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028286] [ENSMUST00000100290] [ENSMUST00000102907] [ENSMUST00000139801] [ENSMUST00000145575] [ENSMUST00000149789] [ENSMUST00000150404] [ENSMUST00000152713] [ENSMUST00000152988] [ENSMUST00000166920] [ENSMUST00000173920] [ENSMUST00000174066] [ENSMUST00000174211]

AlphaFold

Q9QXT5

Predicted Effect

probably benign
Transcript: ENSMUST00000028286

SMART Domains

Protein: ENSMUSP00000028286
Gene: ENSMUSG00000026922

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
PlsC	92	207	5.17e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100290
AA Change: P188L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097863
Gene: ENSMUSG00000026921
AA Change: P188L

Domain	Start	End	E-Value	Type
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: P188L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099971
Gene: ENSMUSG00000026921
AA Change: P188L

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000139801
AA Change: R215W

SMART Domains

Protein: ENSMUSP00000123465
Gene: ENSMUSG00000026921
AA Change: R215W

Domain	Start	End	E-Value	Type
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: ENSMUST00000145575

SMART Domains

Protein: ENSMUSP00000118924
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	31	100	8e-20	PFAM
EGF	110	139	2.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149789

Predicted Effect

probably benign
Transcript: ENSMUST00000150404
AA Change: P188L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115482
Gene: ENSMUSG00000026921
AA Change: P188L

Domain	Start	End	E-Value	Type
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: ENSMUST00000152713

Predicted Effect

probably benign
Transcript: ENSMUST00000152988

Predicted Effect

probably benign
Transcript: ENSMUST00000166920
AA Change: P188L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128741
Gene: ENSMUSG00000026921
AA Change: P188L

Domain	Start	End	E-Value	Type
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: ENSMUST00000173920

SMART Domains

Protein: ENSMUSP00000134503
Gene: ENSMUSG00000026921

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EMI	31	100	3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174066

SMART Domains

Protein: ENSMUSP00000133799
Gene: ENSMUSG00000092356

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	64	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174211
AA Change: P188L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134034
Gene: ENSMUSG00000026921
AA Change: P188L

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,064,424	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,079,100	V165A	probably damaging	Het
Aox2	A	T	1: 58,282,680	T44S	probably damaging	Het
Arhgap29	T	A	3: 122,003,212	N482K	probably benign	Het
Arhgef38	T	A	3: 133,160,830	D182V		Het
Atad5	C	T	11: 80,111,567	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,885,256	S147P	possibly damaging	Het
Cblb	T	A	16: 52,139,542	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,621,025	N97S	probably benign	Het
Cdh23	A	G	10: 60,465,458	V479A	probably benign	Het
Chuk	A	G	19: 44,098,583		probably null	Het
Cmtr2	G	A	8: 110,222,336	G426D	probably damaging	Het
Cog4	G	A	8: 110,866,672	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472	L193*	probably null	Het
Cxcr6	A	T	9: 123,810,461	I183F	probably benign	Het
Dbf4	A	G	5: 8,403,664	F253L	probably benign	Het
Dcaf8	T	C	1: 172,172,797	V174A	probably damaging	Het
Ddhd2	T	C	8: 25,735,752	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,763,565	V33A	probably benign	Het
Ephb3	A	G	16: 21,220,857	E707G	probably damaging	Het
Epn3	C	T	11: 94,496,523	R7H	probably damaging	Het
Fam198b	C	A	3: 79,886,939	S238Y	possibly damaging	Het
Fbp1	T	A	13: 62,867,380	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,918,688	R177*	probably null	Het
Gbp5	T	C	3: 142,500,710	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,773,981	S282T	probably benign	Het
Glg1	A	T	8: 111,258,799	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,377,175	L736F	probably benign	Het
Gm5565	A	T	5: 146,158,299	S212R	probably benign	Het
Grin2c	T	C	11: 115,249,633	T1220A	probably benign	Het
Grp	T	G	18: 65,886,226	S133A	probably benign	Het
Gstp2	C	A	19: 4,040,713	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,791,408	F84L	probably damaging	Het
Inppl1	T	C	7: 101,826,013	R944G	probably benign	Het
Lama2	A	T	10: 27,369,136	N216K	probably damaging	Het
Lrp2	T	A	2: 69,537,538	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,962,540	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 103,071,194	I1555T	probably benign	Het
Map2	G	A	1: 66,412,518	G189D	probably benign	Het
Mdc1	A	G	17: 35,844,469	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,797,768	D152G	possibly damaging	Het
Med23	A	G	10: 24,874,571	M99V	probably benign	Het
Mutyh	G	A	4: 116,817,070	V273M	probably damaging	Het
Neurod2	T	A	11: 98,327,882	Y152F	probably damaging	Het
Olfr1002	A	C	2: 85,647,724	L199R	probably damaging	Het
Olfr1177-ps	C	T	2: 88,344,013	A247T	probably benign	Het
Olfr898	G	T	9: 38,349,198	L32F	probably benign	Het
Pcdh20	G	C	14: 88,467,026	P946R	probably damaging	Het
Pde6b	T	C	5: 108,423,585		probably null	Het
Pdzrn4	A	T	15: 92,769,881	D638V	possibly damaging	Het
Polr1b	A	G	2: 129,109,292	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,360,317	D127V	probably damaging	Het
Rspo4	T	A	2: 151,867,883	C69*	probably null	Het
Scara3	T	C	14: 65,936,402	T63A	probably benign	Het
Scn2a	G	A	2: 65,683,838	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,377,549	T163A	probably benign	Het
Slc2a10	T	A	2: 165,516,293	F446Y	probably damaging	Het
Snapc1	C	T	12: 73,982,495	R351C	probably damaging	Het
Snx6	A	G	12: 54,768,030	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,861,435	C1996*	probably null	Het
Steap4	A	G	5: 7,980,337	T398A	probably benign	Het
Tep1	A	T	14: 50,866,053	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,464	V70D	possibly damaging	Het
Ttn	G	A	2: 76,739,018	A27177V	probably damaging	Het
Ube3a	T	C	7: 59,276,122	V237A	possibly damaging	Het
Vil1	G	A	1: 74,421,383	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,393,929	T716A	probably benign	Het
Zbp1	A	G	2: 173,216,990	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524	V1845A	probably benign	Het
Zfp407	A	T	18: 84,561,268	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,925,815	T626A	probably benign	Het

Other mutations in Egfl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03279:Egfl7	APN	2	26590707	missense	probably benign	0.08
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

Predicted Primers

PCR Primer
(F):5'- CGCCTCCTGTAGACACTAGATTG -3'
(R):5'- AATGCCTTCCAGAAACCTCTTC -3'

Sequencing Primer
(F):5'- CTGTAGACACTAGATTGACACCTTC -3'
(R):5'- AACCTCTTCAGGGTAAAGTGGCC -3'

Posted On

2019-06-07