Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Angptl1'

602539

Institutional Source

Beutler Lab

Gene Symbol

Angptl1

Ensembl Gene

ENSMUSG00000033544

Gene Name

angiopoietin-like 1

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156838562-156861078 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156857224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 321 (Q321L)

Ref Sequence

ENSEMBL: ENSMUSP00000027885 (fasta)

Gene Model

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

AlphaFold

Q640P2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027885
AA Change: Q321L

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027885
Gene: ENSMUSG00000033544
AA Change: Q321L

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 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: 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: 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: 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

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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	Het

Other mutations in Angptl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02835:Angptl1	UTSW	1	156858520	missense	probably benign	0.22
R0285:Angptl1	UTSW	1	156845215	missense	probably benign	0.00
R1237:Angptl1	UTSW	1	156858584	missense	probably damaging	1.00
R1573:Angptl1	UTSW	1	156857170	missense	possibly damaging	0.81
R1722:Angptl1	UTSW	1	156857085	missense	possibly damaging	0.87
R4621:Angptl1	UTSW	1	156844924	missense	probably damaging	1.00
R4795:Angptl1	UTSW	1	156860583	missense	possibly damaging	0.88
R4849:Angptl1	UTSW	1	156857165	missense	probably benign	0.01
R4915:Angptl1	UTSW	1	156844818	missense	probably benign
R5919:Angptl1	UTSW	1	156858546	missense	probably damaging	1.00
R6656:Angptl1	UTSW	1	156857236	missense	probably damaging	1.00
R6833:Angptl1	UTSW	1	156844693	missense	probably benign	0.04
R6834:Angptl1	UTSW	1	156844693	missense	probably benign	0.04
R7453:Angptl1	UTSW	1	156844851	missense	probably benign	0.06
R7657:Angptl1	UTSW	1	156857220	missense	probably benign	0.01
R7692:Angptl1	UTSW	1	156845315	missense	probably damaging	1.00
R8765:Angptl1	UTSW	1	156857157	missense	probably benign	0.01
R9041:Angptl1	UTSW	1	156858429	missense	probably damaging	1.00
X0066:Angptl1	UTSW	1	156844935	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGAGTTGGCCTGATGTCAC -3'
(R):5'- GTCCTCTAGAAATGCAGGCAAAAC -3'

Sequencing Primer
(F):5'- CACACAGCAGATAAAATGTGGTTATC -3'
(R):5'- CACATTTTAATTCTGGCTGTTCAAC -3'

Posted On

2019-12-04