Mutagenetix > Incidental Mutation

Incidental Mutation 'R8073:Angpt1'

620371

Institutional Source

Beutler Lab

Gene Symbol

Angpt1

Ensembl Gene

ENSMUSG00000022309

Gene Name

angiopoietin 1

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42288119-42540373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42301699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 436 (M436I)

Ref Sequence

ENSEMBL: ENSMUSP00000022921 (fasta)

Gene Model

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

AlphaFold

O08538

Predicted Effect

probably benign
Transcript: ENSMUST00000022921
AA Change: M436I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: M436I

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,337,019 (GRCm39)	V533I	probably benign	Het
Akap3	A	T	6: 126,842,736 (GRCm39)	T452S	probably damaging	Het
B3galt4	T	C	17: 34,169,797 (GRCm39)	K147R	probably damaging	Het
Birc6	C	A	17: 74,910,080 (GRCm39)	T1491K	probably damaging	Het
Boll	T	C	1: 55,394,881 (GRCm39)		probably benign	Het
C6	T	C	15: 4,764,675 (GRCm39)	F124L	probably benign	Het
Camta1	T	C	4: 151,163,281 (GRCm39)	Y436C	probably damaging	Het
Celsr1	T	C	15: 85,823,356 (GRCm39)	N1684S	probably benign	Het
Cflar	T	C	1: 58,791,981 (GRCm39)	L428P		Het
Clk4	T	C	11: 51,168,716 (GRCm39)	I363T	probably benign	Het
Cnst	A	G	1: 179,434,002 (GRCm39)	T273A	probably benign	Het
Col5a1	C	T	2: 27,852,141 (GRCm39)	A546V	possibly damaging	Het
Col6a6	T	A	9: 105,659,146 (GRCm39)	N600Y	probably benign	Het
Cxadr	A	G	16: 78,130,301 (GRCm39)	N156S	probably benign	Het
Diaph1	C	T	18: 38,024,850 (GRCm39)	G537E	unknown	Het
Dmxl1	T	A	18: 50,011,500 (GRCm39)	V1219D	probably damaging	Het
Dnajb12	T	A	10: 59,726,001 (GRCm39)	Y95*	probably null	Het
Dnajc5g	A	G	5: 31,269,029 (GRCm39)	T137A	probably benign	Het
Dpy19l3	G	A	7: 35,429,173 (GRCm39)	T89M	probably damaging	Het
Dusp19	C	A	2: 80,447,828 (GRCm39)	T34N	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Enpp1	A	G	10: 24,555,142 (GRCm39)	V68A	possibly damaging	Het
Epha7	T	A	4: 28,821,022 (GRCm39)	D62E	probably damaging	Het
Frmd4b	A	T	6: 97,283,674 (GRCm39)	V445E	probably benign	Het
Gp9	A	C	6: 87,756,336 (GRCm39)	D117A	probably benign	Het
Haao	T	C	17: 84,142,649 (GRCm39)	E152G	possibly damaging	Het
Ift70a2	A	G	2: 75,806,997 (GRCm39)	V505A	probably damaging	Het
Ighd	A	G	12: 113,379,789 (GRCm39)	S52P	probably benign	Het
Ikzf3	T	C	11: 98,358,255 (GRCm39)	K361E	probably benign	Het
Lgi2	T	A	5: 52,704,013 (GRCm39)	E206V	probably benign	Het
Mfsd11	T	A	11: 116,754,749 (GRCm39)	V220E	probably benign	Het
Moxd1	G	T	10: 24,128,848 (GRCm39)	G200C	probably damaging	Het
Mthfd1l	C	A	10: 3,923,417 (GRCm39)	Q55K	probably benign	Het
Nlrp9a	T	A	7: 26,260,260 (GRCm39)	L672M	probably damaging	Het
Npvf	A	C	6: 50,631,349 (GRCm39)	F9V	probably damaging	Het
Nup205	G	T	6: 35,179,104 (GRCm39)		probably null	Het
Nup43	T	C	10: 7,546,713 (GRCm39)	V111A	probably benign	Het
Obscn	C	T	11: 59,026,516 (GRCm39)	R229H	probably benign	Het
Olfml2a	C	A	2: 38,847,766 (GRCm39)	R442S	probably damaging	Het
Or10j2	A	G	1: 173,098,552 (GRCm39)	D270G	probably benign	Het
Or2ag16	C	A	7: 106,352,008 (GRCm39)	E196*	probably null	Het
Or4c120	T	A	2: 89,001,284 (GRCm39)	I91F	probably damaging	Het
Or5b12b	T	A	19: 12,861,980 (GRCm39)	V245E	probably benign	Het
Or9s13	T	A	1: 92,547,806 (GRCm39)	D59E	probably damaging	Het
Pcdhga7	T	C	18: 37,848,398 (GRCm39)	F135S	probably damaging	Het
Pde4a	A	T	9: 21,122,065 (GRCm39)	I654F	probably damaging	Het
Pip5kl1	G	A	2: 32,473,440 (GRCm39)	R359Q	possibly damaging	Het
Ppp2ca	T	C	11: 52,010,124 (GRCm39)	V244A	possibly damaging	Het
Qrich1	T	A	9: 108,411,627 (GRCm39)	L384H	possibly damaging	Het
Rab4a	T	C	8: 124,554,135 (GRCm39)	V62A	possibly damaging	Het
Ranbp10	A	G	8: 106,513,261 (GRCm39)	L217P	probably damaging	Het
Rhebl1	C	T	15: 98,776,405 (GRCm39)	A131T	probably benign	Het
Rnf150	A	T	8: 83,590,546 (GRCm39)		probably benign	Het
Slc32a1	G	A	2: 158,456,685 (GRCm39)	A447T	probably damaging	Het
Spag5	T	A	11: 78,192,803 (GRCm39)	M45K	probably benign	Het
Spata13	A	G	14: 60,928,705 (GRCm39)	N88D	probably damaging	Het
Spred2	C	A	11: 19,958,422 (GRCm39)	T128N	probably benign	Het
Tenm2	T	C	11: 36,030,471 (GRCm39)	E776G	possibly damaging	Het
Tet1	C	G	10: 62,649,132 (GRCm39)	E156Q	probably damaging	Het
Tmc1	T	C	19: 20,845,725 (GRCm39)	N166S	probably benign	Het
Trim43a	C	A	9: 88,464,490 (GRCm39)	Q134K	possibly damaging	Het
Tsks	A	T	7: 44,607,305 (GRCm39)	M543L	probably benign	Het
Ttn	T	C	2: 76,574,181 (GRCm39)	K25571E	probably damaging	Het
Vamp5	C	A	6: 72,357,436 (GRCm39)		probably benign	Het
Vmn2r79	A	T	7: 86,651,462 (GRCm39)	Q287L	probably benign	Het
Zfp326	T	A	5: 106,062,682 (GRCm39)	V517E	unknown	Het
Zfp467	A	T	6: 48,414,959 (GRCm39)	H564Q	probably damaging	Het
Zfp51	G	A	17: 21,684,294 (GRCm39)	C303Y	probably damaging	Het

Other mutations in Angpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Angpt1	APN	15	42,339,863 (GRCm39)	missense	possibly damaging	0.73
IGL02671:Angpt1	APN	15	42,539,790 (GRCm39)	missense	possibly damaging	0.79
IGL02876:Angpt1	APN	15	42,290,373 (GRCm39)	missense	possibly damaging	0.68
IGL03077:Angpt1	APN	15	42,339,818 (GRCm39)	nonsense	probably null
IGL03334:Angpt1	APN	15	42,359,808 (GRCm39)	missense	possibly damaging	0.94
R0226:Angpt1	UTSW	15	42,331,631 (GRCm39)	missense	probably benign	0.01
R1774:Angpt1	UTSW	15	42,387,012 (GRCm39)	missense	probably damaging	0.99
R1800:Angpt1	UTSW	15	42,375,800 (GRCm39)	missense	probably damaging	0.96
R1967:Angpt1	UTSW	15	42,301,703 (GRCm39)	missense	probably damaging	1.00
R4093:Angpt1	UTSW	15	42,386,941 (GRCm39)	missense	probably damaging	1.00
R4477:Angpt1	UTSW	15	42,331,560 (GRCm39)	missense	probably damaging	1.00
R4629:Angpt1	UTSW	15	42,301,796 (GRCm39)	missense	probably benign	0.01
R4647:Angpt1	UTSW	15	42,539,580 (GRCm39)	missense	probably benign	0.02
R4648:Angpt1	UTSW	15	42,539,580 (GRCm39)	missense	probably benign	0.02
R4750:Angpt1	UTSW	15	42,539,797 (GRCm39)	missense	probably benign	0.00
R5222:Angpt1	UTSW	15	42,539,730 (GRCm39)	missense	probably damaging	1.00
R5386:Angpt1	UTSW	15	42,301,761 (GRCm39)	missense	probably damaging	1.00
R5457:Angpt1	UTSW	15	42,386,916 (GRCm39)	missense	probably damaging	1.00
R5526:Angpt1	UTSW	15	42,375,737 (GRCm39)	missense	probably damaging	1.00
R6154:Angpt1	UTSW	15	42,387,051 (GRCm39)	missense	probably damaging	1.00
R6904:Angpt1	UTSW	15	42,323,136 (GRCm39)	missense	probably benign	0.00
R7009:Angpt1	UTSW	15	42,386,991 (GRCm39)	missense	possibly damaging	0.83
R7101:Angpt1	UTSW	15	42,386,965 (GRCm39)	missense	probably benign	0.18
R7139:Angpt1	UTSW	15	42,539,747 (GRCm39)	missense	probably damaging	1.00
R7234:Angpt1	UTSW	15	42,323,121 (GRCm39)	missense	probably benign	0.25
R7830:Angpt1	UTSW	15	42,539,664 (GRCm39)	missense	probably damaging	1.00
R8046:Angpt1	UTSW	15	42,359,752 (GRCm39)	missense	probably benign	0.00
R8093:Angpt1	UTSW	15	42,339,873 (GRCm39)	missense	probably benign	0.01
R8331:Angpt1	UTSW	15	42,539,653 (GRCm39)	missense	probably damaging	1.00
R8391:Angpt1	UTSW	15	42,375,794 (GRCm39)	missense	probably damaging	1.00
R8411:Angpt1	UTSW	15	42,290,430 (GRCm39)	missense	probably damaging	1.00
R8508:Angpt1	UTSW	15	42,375,795 (GRCm39)	missense	probably damaging	1.00
R8787:Angpt1	UTSW	15	42,375,780 (GRCm39)	missense	probably damaging	1.00
R9297:Angpt1	UTSW	15	42,301,751 (GRCm39)	missense	probably benign
R9318:Angpt1	UTSW	15	42,301,751 (GRCm39)	missense	probably benign
R9746:Angpt1	UTSW	15	42,539,837 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCTGTGCAGAGCTAAATGAC -3'
(R):5'- TTCGGAACCTGTGACTCCTG -3'

Sequencing Primer
(F):5'- GCTAAATGACCTCTAGGGACTTGC -3'
(R):5'- GGAACCTGTGACTCCTGTCTGC -3'

Posted On

2020-01-23