Mutagenetix > Incidental Mutation

Incidental Mutation 'R2404:Egfl7'

248846

Institutional Source

Beutler Lab

Gene Symbol

Egfl7

Ensembl Gene

ENSMUSG00000026921

Gene Name

EGF-like domain 7

Synonyms

vascular endothelial-statin, VE-statin, Zneu1

MMRRC Submission

040370-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R2404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26471095-26482694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26479162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 25 (E25K)

Ref Sequence

ENSEMBL: ENSMUSP00000097863 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000083606

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100290
AA Change: E25K

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097863
Gene: ENSMUSG00000026921
AA Change: E25K

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

possibly damaging
Transcript: ENSMUST00000102907
AA Change: E25K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099971
Gene: ENSMUSG00000026921
AA Change: E25K

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

probably benign
Transcript: ENSMUST00000131112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131940

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139801
AA Change: E25K

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123465
Gene: ENSMUSG00000026921
AA Change: E25K

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

unknown
Transcript: ENSMUST00000174066
AA Change: E25K

SMART Domains

Protein: ENSMUSP00000133799
Gene: ENSMUSG00000092356
AA Change: E25K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150404
AA Change: E25K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115482
Gene: ENSMUSG00000026921
AA Change: E25K

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

possibly damaging
Transcript: ENSMUST00000152713
AA Change: E25K

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145575
AA Change: E25K

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118924
Gene: ENSMUSG00000026921
AA Change: E25K

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

possibly damaging
Transcript: ENSMUST00000166920
AA Change: E25K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128741
Gene: ENSMUSG00000026921
AA Change: E25K

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
AA Change: E25K

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134503
Gene: ENSMUSG00000026921
AA Change: E25K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174211
AA Change: E25K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134034
Gene: ENSMUSG00000026921
AA Change: E25K

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

noncoding transcript
Transcript: ENSMUST00000149460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173777

Predicted Effect

probably benign
Transcript: ENSMUST00000149789

Predicted Effect

probably benign
Transcript: ENSMUST00000152988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199077

Predicted Effect

probably benign
Transcript: ENSMUST00000174656

Meta Mutation Damage Score

0.1017

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.2%

Validation Efficiency

98% (52/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,923 (GRCm39)	T98A	possibly damaging	Het
Aifm2	A	G	10: 61,563,974 (GRCm39)	I161V	probably benign	Het
Arhgef26	T	C	3: 62,336,336 (GRCm39)	M625T	possibly damaging	Het
Atp9a	T	A	2: 168,517,283 (GRCm39)		probably null	Het
Avpr1a	T	C	10: 122,285,115 (GRCm39)	F136L	possibly damaging	Het
Bcas3	T	C	11: 85,245,715 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,618,463 (GRCm39)	H867Q	probably benign	Het
Cdh12	C	T	15: 21,537,720 (GRCm39)	T407I	probably damaging	Het
Chd5	C	T	4: 152,451,791 (GRCm39)	T701M	probably damaging	Het
Dhx57	A	G	17: 80,561,733 (GRCm39)	V927A	probably damaging	Het
Dnah2	A	G	11: 69,328,047 (GRCm39)	F3353L	probably damaging	Het
Ect2	G	A	3: 27,185,999 (GRCm39)	P495S	probably benign	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hbs1l	A	T	10: 21,171,946 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,709,974 (GRCm39)	T309I	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif12	A	C	4: 63,088,790 (GRCm39)	L170R	probably damaging	Het
Krt90	A	G	15: 101,463,105 (GRCm39)		probably null	Het
Mcu	A	G	10: 59,303,526 (GRCm39)	S104P	probably damaging	Het
Mical3	G	A	6: 120,936,789 (GRCm39)	P374S	probably benign	Het
Ncam2	A	T	16: 81,287,128 (GRCm39)		probably benign	Het
Or12e9	A	G	2: 87,202,568 (GRCm39)	I231V	probably benign	Het
Or2t47	A	T	11: 58,442,546 (GRCm39)	I173N	probably damaging	Het
Or2w1b	T	C	13: 21,300,012 (GRCm39)	L50P	probably damaging	Het
Or5k17	G	A	16: 58,745,998 (GRCm39)	S312L	probably benign	Het
Otud7a	A	G	7: 63,346,899 (GRCm39)	S158G	probably benign	Het
Phlpp1	C	T	1: 106,100,569 (GRCm39)	T279M	probably benign	Het
Pkhd1l1	T	G	15: 44,414,216 (GRCm39)	W2828G	probably damaging	Het
Pnma8a	A	T	7: 16,694,316 (GRCm39)	N57I	probably damaging	Het
Ppp4r4	A	G	12: 103,547,749 (GRCm39)		probably null	Het
Ptprq	T	C	10: 107,522,460 (GRCm39)	Y531C	probably damaging	Het
Rai1	A	G	11: 60,080,750 (GRCm39)	T1605A	probably benign	Het
Satb2	T	C	1: 56,987,267 (GRCm39)	Y106C	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc19a3	T	A	1: 83,000,756 (GRCm39)	H87L	probably benign	Het
Slc4a7	G	T	14: 14,733,733 (GRCm38)	V54L	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spen	T	C	4: 141,205,216 (GRCm39)	N1137S	unknown	Het
Spice1	T	C	16: 44,186,989 (GRCm39)	I162T	probably benign	Het
Spmip1	G	A	6: 29,473,390 (GRCm39)	R173Q	probably benign	Het
Sqor	A	T	2: 122,649,943 (GRCm39)	T396S	probably benign	Het
Tshz3	A	T	7: 36,469,805 (GRCm39)	Q598L	probably damaging	Het
Ttc13	C	T	8: 125,405,736 (GRCm39)		probably benign	Het
Ubxn2a	T	C	12: 4,933,851 (GRCm39)	T187A	probably benign	Het
Usp28	T	C	9: 48,948,558 (GRCm39)		probably null	Het
Zc3h12a	T	C	4: 125,013,316 (GRCm39)	Y516C	probably damaging	Het
Zfp616	A	C	11: 73,975,682 (GRCm39)	K650N	probably damaging	Het

Other mutations in Egfl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03279:Egfl7	APN	2	26,480,719 (GRCm39)	missense	probably benign	0.08
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGCTGTCACTGCCTTTG -3'
(R):5'- AATGGGGTCAGCTAGTGGTC -3'

Sequencing Primer
(F):5'- GAGCTGTCACTGCCTTTGAATGC -3'
(R):5'- TCAGCTAGTGGTCTAGAGCCAG -3'

Posted On

2014-11-11