Mutagenetix > Incidental Mutation

Incidental Mutation 'R2853:Angptl7'

252387

Institutional Source

Beutler Lab

Gene Symbol

Angptl7

Ensembl Gene

ENSMUSG00000028989

Gene Name

angiopoietin-like 7

Synonyms

MMRRC Submission

040446-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148579737-148584919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148584736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 4 (E4G)

Ref Sequence

ENSEMBL: ENSMUSP00000030840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030840] [ENSMUST00000103221]

AlphaFold

Q8R1Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000030840
AA Change: E4G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030840
Gene: ENSMUSG00000028989
AA Change: E4G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
coiled coil region	36	110	N/A	INTRINSIC
FBG	117	333	7.61e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103221

SMART Domains

Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
low complexity region	179	191	N/A	INTRINSIC
low complexity region	277	288	N/A	INTRINSIC
low complexity region	774	790	N/A	INTRINSIC
DUF3385	854	1024	1.51e-93	SMART
low complexity region	1279	1300	N/A	INTRINSIC
Pfam:FAT	1513	1908	2.3e-134	PFAM
Rapamycin_bind	2015	2114	7.94e-61	SMART
PI3Kc	2183	2484	8.84e-121	SMART
FATC	2517	2549	2.11e-15	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	C	16: 8,418,832 (GRCm39)	K142T	probably damaging	Het
Als2cl	T	C	9: 110,723,203 (GRCm39)	S636P	probably damaging	Het
Aph1c	T	C	9: 66,741,764 (GRCm39)		probably null	Het
Arhgap23	T	C	11: 97,383,420 (GRCm39)		probably null	Het
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Atosb	A	G	4: 43,036,293 (GRCm39)	L146P	probably benign	Het
Ccdc85a	A	G	11: 28,342,942 (GRCm39)		probably benign	Het
Chchd1	T	C	14: 20,754,288 (GRCm39)	S67P	probably benign	Het
Cubn	C	T	2: 13,435,645 (GRCm39)	V1104I	probably benign	Het
Dennd5a	A	T	7: 109,532,878 (GRCm39)	N297K	probably damaging	Het
Dnai4	T	C	4: 102,907,355 (GRCm39)	I644V	possibly damaging	Het
Egflam	A	T	15: 7,249,182 (GRCm39)	W879R	probably damaging	Het
Far1	T	C	7: 113,152,944 (GRCm39)	Y351H	possibly damaging	Het
Gpr62	T	C	9: 106,341,911 (GRCm39)	E339G	probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Ids	G	T	X: 69,396,776 (GRCm39)	T329K	probably damaging	Het
Itga9	G	A	9: 118,465,604 (GRCm39)	E153K	probably damaging	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Megf10	T	C	18: 57,427,003 (GRCm39)	I1107T	probably damaging	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mtm1	T	G	X: 70,345,389 (GRCm39)	I437S	probably damaging	Het
Ncoa2	C	T	1: 13,257,113 (GRCm39)	V129I	probably damaging	Het
Ncs1	T	C	2: 31,177,329 (GRCm39)	F169L	probably damaging	Het
Ndst2	T	C	14: 20,779,964 (GRCm39)	E92G	probably damaging	Het
Parm1	T	C	5: 91,742,124 (GRCm39)	V164A	probably benign	Het
Pkhd1	T	C	1: 20,128,526 (GRCm39)	Q4059R	probably benign	Het
Scgb1b20	A	C	7: 33,072,949 (GRCm39)	K52N	possibly damaging	Het
Setbp1	T	A	18: 78,967,211 (GRCm39)	Q171L	probably benign	Het
Sik2	A	T	9: 50,809,597 (GRCm39)	L612Q	probably damaging	Het
Srprb	G	A	9: 103,076,038 (GRCm39)	Q800*	probably null	Het
Ss18l1	A	G	2: 179,699,914 (GRCm39)	Y258C	probably damaging	Het
Togaram1	A	G	12: 65,063,386 (GRCm39)	K1567R	probably benign	Het
Ttc6	T	C	12: 57,622,967 (GRCm39)	F122S	probably damaging	Het
Vmn2r85	T	A	10: 130,255,035 (GRCm39)	M550L	probably benign	Het

Other mutations in Angptl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02367:Angptl7	APN	4	148,584,601 (GRCm39)	missense	possibly damaging	0.78
IGL02888:Angptl7	APN	4	148,580,788 (GRCm39)	intron	probably benign
R1725:Angptl7	UTSW	4	148,584,469 (GRCm39)	missense	probably damaging	0.96
R1772:Angptl7	UTSW	4	148,581,883 (GRCm39)	missense	probably damaging	1.00
R1812:Angptl7	UTSW	4	148,582,540 (GRCm39)	missense	probably damaging	0.96
R2973:Angptl7	UTSW	4	148,584,671 (GRCm39)	nonsense	probably null
R4944:Angptl7	UTSW	4	148,584,534 (GRCm39)	missense	probably damaging	1.00
R5049:Angptl7	UTSW	4	148,582,468 (GRCm39)	missense	probably benign	0.19
R5154:Angptl7	UTSW	4	148,581,882 (GRCm39)	missense	probably damaging	1.00
R5725:Angptl7	UTSW	4	148,580,965 (GRCm39)	missense	possibly damaging	0.95
R6919:Angptl7	UTSW	4	148,584,488 (GRCm39)	missense	probably benign	0.09
R6977:Angptl7	UTSW	4	148,581,850 (GRCm39)	missense	probably damaging	1.00
R7682:Angptl7	UTSW	4	148,582,539 (GRCm39)	missense	probably damaging	0.96
R7909:Angptl7	UTSW	4	148,580,667 (GRCm39)	missense	probably benign
R8103:Angptl7	UTSW	4	148,581,018 (GRCm39)	missense	probably damaging	1.00
R8337:Angptl7	UTSW	4	148,581,741 (GRCm39)	missense	probably damaging	0.99
R8936:Angptl7	UTSW	4	148,581,790 (GRCm39)	missense	probably benign	0.00
R8939:Angptl7	UTSW	4	148,580,956 (GRCm39)	nonsense	probably null
R9482:Angptl7	UTSW	4	148,584,575 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- TCACCTGCATGACCACACTG -3'
(R):5'- CAGCAACAATATTTAAGATGCTGCC -3'

Sequencing Primer
(F):5'- ACACTGACCCAGTCGCTCTC -3'
(R):5'- CAATATTTAAGATGCTGCCTTGGTG -3'

Posted On

2014-12-04