Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02900:Angpt4'

363545

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Angpt4

Ensembl Gene

ENSMUSG00000027460

Gene Name

angiopoietin 4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL02900

Quality Score

Status

Chromosome

Chromosomal Location

151753130-151787257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151753391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 47 (V47E)

Ref Sequence

ENSEMBL: ENSMUSP00000028955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028955]

AlphaFold

Q9WVH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028955
AA Change: V47E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028955
Gene: ENSMUSG00000027460
AA Change: V47E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	86	95	N/A	INTRINSIC
coiled coil region	181	239	N/A	INTRINSIC
low complexity region	253	267	N/A	INTRINSIC
FBG	292	507	2.23e-98	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the angiopoietin family of secreted growth factors comprising Angiopoietins-1, -2, and -3, all of which bind the TEK Receptor Tyrosine Kinase. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is involved in survival and migration of endothelial cells and regulates vascular remodeling and maintenance of vascular integrity. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is also required for lymphangiogenesis. Family members bind TEK Receptor Tyrosine Kinase as multimeric clusters but their oligomerization properties differ from one another and this is thought to provide a mechanistic basis for their distinct physiologic roles. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,728,774 (GRCm39)	T23N	possibly damaging	Het
Arhgef11	G	A	3: 87,640,467 (GRCm39)	R1208Q	probably benign	Het
Calb1	T	C	4: 15,895,695 (GRCm39)		probably benign	Het
Capn11	G	T	17: 45,941,540 (GRCm39)		probably null	Het
Carmil2	T	A	8: 106,422,151 (GRCm39)	I1140N	probably damaging	Het
Cnn3	A	T	3: 121,245,143 (GRCm39)	T23S	probably benign	Het
Colgalt2	C	T	1: 152,384,481 (GRCm39)	T607M	probably damaging	Het
Cyp46a1	T	G	12: 108,309,350 (GRCm39)	V93G	probably damaging	Het
Dcaf6	T	C	1: 165,227,344 (GRCm39)	Y261C	probably damaging	Het
Dnah10	A	G	5: 124,878,886 (GRCm39)	Y2715C	probably damaging	Het
Dsg1a	G	T	18: 20,461,713 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,785,421 (GRCm39)	P862L	probably benign	Het
Gm5414	T	C	15: 101,536,242 (GRCm39)	T128A	probably damaging	Het
Gp9	G	T	6: 87,756,415 (GRCm39)	W143C	probably damaging	Het
Hipk2	T	C	6: 38,706,879 (GRCm39)	I670V	probably damaging	Het
Hoxa10	T	C	6: 52,209,541 (GRCm39)	K77R	possibly damaging	Het
Kcna1	T	G	6: 126,620,057 (GRCm39)	S88R	probably damaging	Het
Kif1b	A	T	4: 149,265,266 (GRCm39)	S1758T	possibly damaging	Het
Klk1b11	A	G	7: 43,427,837 (GRCm39)	T182A	probably damaging	Het
Lrp1	G	A	10: 127,412,516 (GRCm39)		probably benign	Het
Magi1	A	G	6: 93,663,854 (GRCm39)	S991P	probably damaging	Het
Mast4	T	A	13: 102,872,184 (GRCm39)	T2203S	probably benign	Het
Mxra8	A	G	4: 155,925,576 (GRCm39)	E95G	possibly damaging	Het
Mxra8	A	G	4: 155,925,668 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or14j9	A	G	17: 37,874,740 (GRCm39)	I154T	possibly damaging	Het
Or2f2	T	A	6: 42,767,808 (GRCm39)	Y278*	probably null	Het
Or8g2b	T	A	9: 39,751,108 (GRCm39)	I126N	probably damaging	Het
Or8g4	A	T	9: 39,661,901 (GRCm39)	H73L	probably benign	Het
Pbx4	A	G	8: 70,319,216 (GRCm39)	E249G	probably damaging	Het
Pkd1l2	T	C	8: 117,750,830 (GRCm39)	E1727G	probably benign	Het
Plec	T	G	15: 76,070,414 (GRCm39)	D932A	probably damaging	Het
Pramel22	A	T	4: 143,382,085 (GRCm39)	F204I	possibly damaging	Het
Raph1	T	C	1: 60,542,022 (GRCm39)	D364G	probably damaging	Het
Rps29	T	A	12: 69,205,825 (GRCm39)	H3L	probably damaging	Het
Sema4c	A	T	1: 36,589,826 (GRCm39)	C509*	probably null	Het
Srgap2	A	T	1: 131,339,534 (GRCm39)		probably benign	Het
Stam2	A	T	2: 52,598,209 (GRCm39)	D243E	probably benign	Het
Stxbp4	A	G	11: 90,497,861 (GRCm39)	L146P	probably benign	Het
Teddm3	G	T	16: 20,971,900 (GRCm39)	T223K	probably benign	Het
Tfap2d	A	T	1: 19,189,474 (GRCm39)	N285Y	probably damaging	Het
Tmprss3	T	A	17: 31,403,553 (GRCm39)	D416V	probably damaging	Het
Vmn1r71	T	A	7: 10,482,601 (GRCm39)	Y29F	probably benign	Het
Vmn2r84	T	C	10: 130,223,861 (GRCm39)		probably benign	Het
Washc2	G	T	6: 116,204,435 (GRCm39)	D362Y	probably damaging	Het
Wbp2nl	T	C	15: 82,198,035 (GRCm39)	S191P	probably benign	Het
Zfp608	T	C	18: 55,079,865 (GRCm39)	T307A	probably damaging	Het
Zfp970	T	C	2: 177,166,610 (GRCm39)		probably benign	Het

Other mutations in Angpt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03107:Angpt4	APN	2	151,785,342 (GRCm39)	missense	probably benign	0.08
IGL03343:Angpt4	APN	2	151,778,623 (GRCm39)	missense	probably damaging	1.00
R0034:Angpt4	UTSW	2	151,771,311 (GRCm39)	missense	probably benign	0.44
R0709:Angpt4	UTSW	2	151,776,434 (GRCm39)	missense	possibly damaging	0.46
R0764:Angpt4	UTSW	2	151,753,204 (GRCm39)	start gained	probably benign
R0853:Angpt4	UTSW	2	151,780,847 (GRCm39)	missense	probably damaging	1.00
R1796:Angpt4	UTSW	2	151,780,909 (GRCm39)	missense	probably damaging	1.00
R2091:Angpt4	UTSW	2	151,778,703 (GRCm39)	splice site	probably benign
R2184:Angpt4	UTSW	2	151,780,874 (GRCm39)	missense	probably damaging	1.00
R2901:Angpt4	UTSW	2	151,753,259 (GRCm39)	missense	unknown
R3014:Angpt4	UTSW	2	151,771,517 (GRCm39)	missense	probably benign	0.07
R4192:Angpt4	UTSW	2	151,785,238 (GRCm39)	missense	probably benign
R4440:Angpt4	UTSW	2	151,786,566 (GRCm39)	missense	probably damaging	1.00
R5059:Angpt4	UTSW	2	151,776,360 (GRCm39)	missense	probably damaging	1.00
R5326:Angpt4	UTSW	2	151,767,464 (GRCm39)	critical splice donor site	probably null
R6345:Angpt4	UTSW	2	151,771,354 (GRCm39)	missense	probably benign	0.00
R7232:Angpt4	UTSW	2	151,771,460 (GRCm39)	missense	possibly damaging	0.63
R7313:Angpt4	UTSW	2	151,767,326 (GRCm39)	missense	probably benign
R7456:Angpt4	UTSW	2	151,780,987 (GRCm39)	missense	probably damaging	1.00
R7598:Angpt4	UTSW	2	151,767,445 (GRCm39)	missense	possibly damaging	0.95
R7823:Angpt4	UTSW	2	151,753,286 (GRCm39)	missense	unknown
R8261:Angpt4	UTSW	2	151,769,084 (GRCm39)	missense	probably benign	0.00
R8682:Angpt4	UTSW	2	151,769,005 (GRCm39)	missense	probably benign	0.00
R8730:Angpt4	UTSW	2	151,771,467 (GRCm39)	missense	probably damaging	0.99
R8861:Angpt4	UTSW	2	151,767,373 (GRCm39)	missense	probably damaging	1.00
R9359:Angpt4	UTSW	2	151,780,892 (GRCm39)	missense	probably damaging	0.98
R9403:Angpt4	UTSW	2	151,780,892 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-12-18