Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Angptl1'

346120

Institutional Source

Beutler Lab

Gene Symbol

Angptl1

Ensembl Gene

ENSMUSG00000033544

Gene Name

angiopoietin-like 1

Synonyms

2810039D03Rik, ANG3, ARP1, ANGPT3, ANG-3, ANGY, ANG3

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R4621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156666495-156688648 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156672494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 107 (V107M)

Ref Sequence

ENSEMBL: ENSMUSP00000107349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027885] [ENSMUST00000027886] [ENSMUST00000063199] [ENSMUST00000111720] [ENSMUST00000171292] [ENSMUST00000172057] [ENSMUST00000185198] [ENSMUST00000189316] [ENSMUST00000192343] [ENSMUST00000191605] [ENSMUST00000188656] [ENSMUST00000190648]

AlphaFold

Q640P2

Predicted Effect

probably damaging
Transcript: ENSMUST00000027885
AA Change: V107M

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

SMART Domains

Protein: ENSMUSP00000027885
Gene: ENSMUSG00000033544
AA Change: V107M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
FBG	274	489	1.3e-99	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000027886

SMART Domains

Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PH	439	552	1.01e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063199

SMART Domains

Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PH	465	578	1.01e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111720
AA Change: V107M

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

SMART Domains

Protein: ENSMUSP00000107349
Gene: ENSMUSG00000033544
AA Change: V107M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171292

SMART Domains

Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PH	465	578	1.01e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172057

SMART Domains

Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
RasGEF	5	253	1.35e-83	SMART
low complexity region	359	382	N/A	INTRINSIC
PH	430	543	1.01e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185198

SMART Domains

Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
Blast:PH	465	562	3e-55	BLAST
PDB:2DTC\|B	466	551	9e-34	PDB
SCOP:d1btn__	467	546	2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189316

SMART Domains

Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PDB:2DTC\|B	466	520	6e-16	PDB
SCOP:d1btn__	467	519	1e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192343

SMART Domains

Protein: ENSMUSP00000142004
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
SCOP:d1bkds_	1	70	3e-5	SMART
PDB:3QXL\|B	38	71	3e-14	PDB
Blast:RasGEF	45	74	1e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000191605

SMART Domains

Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PH	465	578	1.01e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188656

SMART Domains

Protein: ENSMUSP00000140342
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	1.4e-93	SMART
low complexity region	394	417	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190648

SMART Domains

Protein: ENSMUSP00000140055
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	1.4e-93	SMART
low complexity region	394	417	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no detectable phenotypic defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,975,235 (GRCm39)	Y142H	probably damaging	Het
Abra	C	T	15: 41,732,620 (GRCm39)	D149N	probably benign	Het
Acin1	A	T	14: 54,890,900 (GRCm39)		probably benign	Het
Adap2	T	A	11: 80,064,899 (GRCm39)		probably null	Het
Afdn	A	G	17: 14,109,082 (GRCm39)	E1535G	probably damaging	Het
Ajm1	G	A	2: 25,468,412 (GRCm39)	P500S	probably damaging	Het
Ak9	A	G	10: 41,282,887 (GRCm39)	N1218D	possibly damaging	Het
Arhgap26	G	A	18: 39,032,894 (GRCm39)		probably benign	Het
Cage1	A	C	13: 38,209,477 (GRCm39)	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,824,004 (GRCm39)	T163A	probably benign	Het
Celsr2	A	T	3: 108,302,532 (GRCm39)	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,995,951 (GRCm39)	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,076,182 (GRCm39)	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,415,258 (GRCm39)	T295A	probably benign	Het
Dus2	T	A	8: 106,757,074 (GRCm39)	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,070 (GRCm39)		probably benign	Het
Ecrg4	G	A	1: 43,776,412 (GRCm39)		probably null	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Epb41l2	T	C	10: 25,378,038 (GRCm39)		probably null	Het
Espn	A	G	4: 152,215,709 (GRCm39)	S408P	probably damaging	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
F830016B08Rik	G	A	18: 60,433,939 (GRCm39)	V341I	probably benign	Het
Flii	A	G	11: 60,606,937 (GRCm39)	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,779,264 (GRCm39)	V103M	probably damaging	Het
Frem3	T	A	8: 81,395,820 (GRCm39)		probably null	Het
Gltp	C	T	5: 114,812,188 (GRCm39)	R106Q	probably damaging	Het
Gtf3c3	A	G	1: 54,458,575 (GRCm39)	Y449H	probably damaging	Het
H1f9	G	A	11: 94,858,986 (GRCm39)	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,653,866 (GRCm39)	V51A	probably damaging	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,916,783 (GRCm39)	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,723,140 (GRCm39)	N55D	possibly damaging	Het
Kctd19	T	G	8: 106,123,103 (GRCm39)	N104H	probably damaging	Het
Kif27	T	G	13: 58,478,827 (GRCm39)	D572A	probably benign	Het
Larp1b	G	A	3: 40,918,424 (GRCm39)	G22R	possibly damaging	Het
Lcn2	A	T	2: 32,274,655 (GRCm39)		probably benign	Het
Lmtk2	T	A	5: 144,111,752 (GRCm39)	I824N	probably benign	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,025,845 (GRCm39)	T135A	probably benign	Het
Neb	G	A	2: 52,161,051 (GRCm39)	Q2207*	probably null	Het
Nek3	T	C	8: 22,647,055 (GRCm39)	Y160C	probably damaging	Het
Or2y6	G	C	11: 52,104,706 (GRCm39)	L37V	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,105,279 (GRCm39)	I245V	probably benign	Het
Pcdh9	T	C	14: 94,125,079 (GRCm39)	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,570,213 (GRCm39)	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,428,980 (GRCm39)	T318A	probably benign	Het
Prlr	T	A	15: 10,319,462 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,001,453 (GRCm39)	A1181V	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rap1gap2	A	G	11: 74,326,525 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,631,345 (GRCm39)	V244A	probably damaging	Het
Rexo5	T	G	7: 119,418,722 (GRCm39)	I254R	probably benign	Het
Robo2	A	T	16: 73,782,821 (GRCm39)	S316T	probably benign	Het
Satb2	A	T	1: 56,884,778 (GRCm39)	V382E	probably damaging	Het
Scg2	C	T	1: 79,414,381 (GRCm39)	R114Q	probably benign	Het
Scube2	T	C	7: 109,399,857 (GRCm39)	D893G	possibly damaging	Het
Snrpn	T	C	7: 59,637,274 (GRCm39)	D14G	possibly damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Spata9	T	G	13: 76,116,001 (GRCm39)	F17V	possibly damaging	Het
Supt6	A	G	11: 78,103,572 (GRCm39)	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,358,652 (GRCm39)	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,227,905 (GRCm39)	S81P	probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,520,308 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,039,263 (GRCm39)	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,676,704 (GRCm39)	Q145L	possibly damaging	Het

Other mutations in Angptl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02835:Angptl1	UTSW	1	156,686,090 (GRCm39)	missense	probably benign	0.22
R0285:Angptl1	UTSW	1	156,672,785 (GRCm39)	missense	probably benign	0.00
R1237:Angptl1	UTSW	1	156,686,154 (GRCm39)	missense	probably damaging	1.00
R1573:Angptl1	UTSW	1	156,684,740 (GRCm39)	missense	possibly damaging	0.81
R1722:Angptl1	UTSW	1	156,684,655 (GRCm39)	missense	possibly damaging	0.87
R4795:Angptl1	UTSW	1	156,688,153 (GRCm39)	missense	possibly damaging	0.88
R4849:Angptl1	UTSW	1	156,684,735 (GRCm39)	missense	probably benign	0.01
R4915:Angptl1	UTSW	1	156,672,388 (GRCm39)	missense	probably benign
R5919:Angptl1	UTSW	1	156,686,116 (GRCm39)	missense	probably damaging	1.00
R6656:Angptl1	UTSW	1	156,684,806 (GRCm39)	missense	probably damaging	1.00
R6833:Angptl1	UTSW	1	156,672,263 (GRCm39)	missense	probably benign	0.04
R6834:Angptl1	UTSW	1	156,672,263 (GRCm39)	missense	probably benign	0.04
R7453:Angptl1	UTSW	1	156,672,421 (GRCm39)	missense	probably benign	0.06
R7657:Angptl1	UTSW	1	156,684,790 (GRCm39)	missense	probably benign	0.01
R7692:Angptl1	UTSW	1	156,672,885 (GRCm39)	missense	probably damaging	1.00
R8765:Angptl1	UTSW	1	156,684,727 (GRCm39)	missense	probably benign	0.01
R9041:Angptl1	UTSW	1	156,685,999 (GRCm39)	missense	probably damaging	1.00
RF002:Angptl1	UTSW	1	156,684,794 (GRCm39)	missense	possibly damaging	0.79
X0066:Angptl1	UTSW	1	156,672,505 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATATCCCCGTGCTACTGATGG -3'
(R):5'- CATCTTCAGCATTTCTGTGGTG -3'

Sequencing Primer
(F):5'- CCCGTGCTACTGATGGGAAAG -3'
(R):5'- GACATTGAGGATTTTGTTTTCCAGC -3'

Posted On

2015-09-25