Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03334:Angpt1'

List |< first << previous [record 3 of 38] next >> last >|

416959

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Angpt1

Ensembl Gene

ENSMUSG00000022309

Gene Name

angiopoietin 1

Synonyms

Angiopoietin-1, 1110046O21Rik, Ang-1, ang1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

42424723-42676977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42496412 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 208 (E208V)

Ref Sequence

ENSEMBL: ENSMUSP00000022921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022921]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022921
AA Change: E208V

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: E208V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	194	254	N/A	INTRINSIC
FBG	281	496	3.04e-132	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted glycoprotein that belongs to the angiopoietin family of vascular growth factors. The encoded protein is a ligand in the vascular tyrosine kinase signaling pathway and regulates the formation and stabilization of blood vessels. This protein also functions in striated muscles by promoting proliferation, migration and differentiation of skeletal myoblasts and plays an essential role in the vascular response to tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality by E12.5 and deficits in vascular development such as a reduction in vascular branching. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,947,475	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023	I286F	probably benign	Het
Arhgef5	T	C	6: 43,274,000	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441		probably null	Het
Clca4a	A	T	3: 144,953,866	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821		probably benign	Het
Col27a1	A	T	4: 63,314,722	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837		probably null	Het
Fnbp1l	A	G	3: 122,557,949	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963	R48*	probably null	Het
Golga4	C	T	9: 118,537,233		probably benign	Het
Grin1	C	T	2: 25,298,393		probably null	Het
Ifi203	T	A	1: 173,937,835	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122	V594A	probably benign	Het
Krr1	T	G	10: 111,980,054	S275R	probably benign	Het
Lars	T	C	18: 42,221,506	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611		probably null	Het
Nktr	T	C	9: 121,748,176	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665		probably benign	Het
Vmn1r218	T	C	13: 23,136,618	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355	F382I	possibly damaging	Het

Other mutations in Angpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Angpt1	APN	15	42476467	missense	possibly damaging	0.73
IGL02671:Angpt1	APN	15	42676394	missense	possibly damaging	0.79
IGL02876:Angpt1	APN	15	42426977	missense	possibly damaging	0.68
IGL03077:Angpt1	APN	15	42476422	nonsense	probably null
R0226:Angpt1	UTSW	15	42468235	missense	probably benign	0.01
R1774:Angpt1	UTSW	15	42523616	missense	probably damaging	0.99
R1800:Angpt1	UTSW	15	42512404	missense	probably damaging	0.96
R1967:Angpt1	UTSW	15	42438307	missense	probably damaging	1.00
R4093:Angpt1	UTSW	15	42523545	missense	probably damaging	1.00
R4477:Angpt1	UTSW	15	42468164	missense	probably damaging	1.00
R4629:Angpt1	UTSW	15	42438400	missense	probably benign	0.01
R4647:Angpt1	UTSW	15	42676184	missense	probably benign	0.02
R4648:Angpt1	UTSW	15	42676184	missense	probably benign	0.02
R4750:Angpt1	UTSW	15	42676401	missense	probably benign	0.00
R5222:Angpt1	UTSW	15	42676334	missense	probably damaging	1.00
R5386:Angpt1	UTSW	15	42438365	missense	probably damaging	1.00
R5457:Angpt1	UTSW	15	42523520	missense	probably damaging	1.00
R5526:Angpt1	UTSW	15	42512341	missense	probably damaging	1.00
R6154:Angpt1	UTSW	15	42523655	missense	probably damaging	1.00
R6904:Angpt1	UTSW	15	42459740	missense	probably benign	0.00
R7009:Angpt1	UTSW	15	42523595	missense	possibly damaging	0.83
R7101:Angpt1	UTSW	15	42523569	missense	probably benign	0.18
R7139:Angpt1	UTSW	15	42676351	missense	probably damaging	1.00
R7234:Angpt1	UTSW	15	42459725	missense	probably benign	0.25
R7830:Angpt1	UTSW	15	42676268	missense	probably damaging	1.00
R8046:Angpt1	UTSW	15	42496356	missense	probably benign	0.00
R8073:Angpt1	UTSW	15	42438303	missense	probably benign	0.00
R8093:Angpt1	UTSW	15	42476477	missense	probably benign	0.01
R8331:Angpt1	UTSW	15	42676257	missense	probably damaging	1.00
R8391:Angpt1	UTSW	15	42512398	missense	probably damaging	1.00
R8411:Angpt1	UTSW	15	42427034	missense	probably damaging	1.00
R8508:Angpt1	UTSW	15	42512399	missense	probably damaging	1.00

Posted On

2016-08-02