Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03343:Angpt4'

417341

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 #

IGL03343

Quality Score

Status

Chromosome

Chromosomal Location

151753130-151787257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151778623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 336 (T336A)

Ref Sequence

ENSEMBL: ENSMUSP00000028955 (fasta)

Gene Model

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

AlphaFold

Q9WVH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028955
AA Change: T336A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028955
Gene: ENSMUSG00000027460
AA Change: T336A

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	G	7: 66,725,064 (GRCm39)	H795R	probably damaging	Het
Adgrl2	A	T	3: 148,565,016 (GRCm39)	I188K	probably damaging	Het
Adgrv1	A	G	13: 81,431,507 (GRCm39)	Y5974H	probably damaging	Het
Arhgap30	C	A	1: 171,236,662 (GRCm39)	T1012N	probably damaging	Het
Asl	A	T	5: 130,040,908 (GRCm39)	Y178N	probably damaging	Het
Brd1	C	A	15: 88,591,454 (GRCm39)	L714F	possibly damaging	Het
Ccdc47	A	G	11: 106,095,788 (GRCm39)	S303P	probably damaging	Het
Cdcp3	T	A	7: 130,848,420 (GRCm39)	I858N	probably damaging	Het
Cdk16	A	G	X: 20,561,998 (GRCm39)	K264E	probably damaging	Het
Cenpc1	A	T	5: 86,164,181 (GRCm39)	F813L	probably damaging	Het
Cfp	A	C	X: 20,794,248 (GRCm39)	F291C	possibly damaging	Het
Chordc1	T	G	9: 18,223,762 (GRCm39)	F276V	probably damaging	Het
Clic4	C	T	4: 134,945,889 (GRCm39)	R176H	possibly damaging	Het
Fcer1a	T	G	1: 173,053,040 (GRCm39)	N52T	possibly damaging	Het
Fndc7	A	T	3: 108,774,624 (GRCm39)	C545S	probably damaging	Het
Frem2	T	C	3: 53,559,674 (GRCm39)	D1611G	probably damaging	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Gga3	A	T	11: 115,483,312 (GRCm39)	N82K	probably damaging	Het
Gm43638	G	A	5: 87,608,484 (GRCm39)	P452S	possibly damaging	Het
Gpn1	T	C	5: 31,662,309 (GRCm39)	S244P	probably damaging	Het
Hspa12a	T	C	19: 58,787,828 (GRCm39)	S665G	probably benign	Het
Htt	A	G	5: 34,983,385 (GRCm39)	I995V	probably benign	Het
Iars1	A	T	13: 49,878,223 (GRCm39)	I916L	probably benign	Het
Ice1	C	A	13: 70,751,048 (GRCm39)	L1679F	probably damaging	Het
Inpp1	A	T	1: 52,838,486 (GRCm39)	D54E	probably damaging	Het
Irf2bpl	T	C	12: 86,929,713 (GRCm39)	E320G	possibly damaging	Het
Itprid1	T	G	6: 55,945,569 (GRCm39)	D763E	probably damaging	Het
Kcnn2	T	C	18: 45,810,026 (GRCm39)	V421A	probably damaging	Het
Micu2	A	G	14: 58,154,768 (GRCm39)	V419A	probably benign	Het
Nek9	C	T	12: 85,350,383 (GRCm39)	C897Y	probably damaging	Het
Ofcc1	A	C	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Or12d17	G	A	17: 37,777,300 (GRCm39)	D68N	probably damaging	Het
Or2y16	C	A	11: 49,335,070 (GRCm39)	H131N	probably damaging	Het
Or5m12	T	C	2: 85,735,285 (GRCm39)	T38A	probably benign	Het
Or6c69c	T	G	10: 129,911,125 (GRCm39)	L282R	probably damaging	Het
Pakap	C	T	4: 57,688,502 (GRCm39)	T115M	probably damaging	Het
Papss1	G	A	3: 131,288,950 (GRCm39)	G151S	probably benign	Het
Plxnb1	A	G	9: 108,943,780 (GRCm39)	T1956A	probably damaging	Het
Pomt1	A	G	2: 32,143,724 (GRCm39)		probably benign	Het
Ppfibp2	T	A	7: 107,337,126 (GRCm39)	Y570*	probably null	Het
Ppp1r9a	A	G	6: 5,046,015 (GRCm39)	E493G	probably damaging	Het
Ptk2b	A	G	14: 66,406,870 (GRCm39)	F621L	probably benign	Het
Ptpn13	G	T	5: 103,702,816 (GRCm39)	D1261Y	possibly damaging	Het
Ptprd	C	T	4: 75,977,966 (GRCm39)	G181D	probably damaging	Het
Rabgap1l	T	C	1: 160,270,853 (GRCm39)	T645A	probably benign	Het
Slc2a7	T	C	4: 150,252,797 (GRCm39)	I479T	probably damaging	Het
Smc3	A	G	19: 53,602,273 (GRCm39)	N40S	probably damaging	Het
Spata31	A	T	13: 65,067,587 (GRCm39)	D83V	probably benign	Het
Sptb	C	T	12: 76,630,330 (GRCm39)		probably benign	Het
Ssc4d	A	T	5: 135,990,028 (GRCm39)	C493*	probably null	Het
Styxl2	T	C	1: 165,927,017 (GRCm39)	D865G	probably benign	Het
Ubr2	C	A	17: 47,262,844 (GRCm39)	V1256L	probably benign	Het
Ubr3	T	C	2: 69,803,490 (GRCm39)		probably benign	Het
Vmn2r105	C	T	17: 20,446,631 (GRCm39)	W456*	probably null	Het
Vmn2r24	T	A	6: 123,793,070 (GRCm39)	I799N	probably damaging	Het
Vps13b	G	A	15: 35,917,316 (GRCm39)	G3720D	possibly damaging	Het

Other mutations in Angpt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02900:Angpt4	APN	2	151,753,391 (GRCm39)	missense	probably damaging	0.99
IGL03107:Angpt4	APN	2	151,785,342 (GRCm39)	missense	probably benign	0.08
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

2016-08-02