Mutagenetix > Incidental Mutation

Incidental Mutation 'R7682:Angptl7'

592808

Institutional Source

Beutler Lab

Gene Symbol

Angptl7

Ensembl Gene

ENSMUSG00000028989

Gene Name

angiopoietin-like 7

Synonyms

MMRRC Submission

045748-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7682 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148579737-148584919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148582539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 119 (I119N)

Ref Sequence

ENSEMBL: ENSMUSP00000030840 (fasta)

Gene Model

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

AlphaFold

Q8R1Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030840
AA Change: I119N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030840
Gene: ENSMUSG00000028989
AA Change: I119N

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

Meta Mutation Damage Score

0.2028

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	A	16: 88,556,373 (GRCm39)	S196T	probably benign	Het
Abcc5	T	C	16: 20,186,803 (GRCm39)	D977G	probably damaging	Het
Acot2	T	C	12: 84,034,698 (GRCm39)	V8A	probably benign	Het
Adamts9	T	A	6: 92,857,679 (GRCm39)	I870F	possibly damaging	Het
Adgrl3	G	A	5: 81,942,407 (GRCm39)	V1414I	probably damaging	Het
Aggf1	T	C	13: 95,504,934 (GRCm39)	K275R	probably benign	Het
Alpk1	T	C	3: 127,466,195 (GRCm39)	I1104V	possibly damaging	Het
Ank3	A	T	10: 69,824,065 (GRCm39)	E129D	possibly damaging	Het
Brca2	T	A	5: 150,466,618 (GRCm39)	H2127Q	probably benign	Het
Brd4	A	G	17: 32,420,134 (GRCm39)	F1008S	unknown	Het
Car2	T	C	3: 14,953,025 (GRCm39)	S56P	probably damaging	Het
Casp3	A	G	8: 47,085,420 (GRCm39)	Y41C	probably benign	Het
Ces4a	A	T	8: 105,873,297 (GRCm39)	T381S	probably benign	Het
Clstn1	A	G	4: 149,710,558 (GRCm39)	T77A	possibly damaging	Het
Cul7	G	T	17: 46,966,521 (GRCm39)	V615L	probably benign	Het
Dnpep	A	G	1: 75,293,384 (GRCm39)	F24L	probably damaging	Het
Efcab3	T	A	11: 104,855,174 (GRCm39)		probably null	Het
Emsy	G	A	7: 98,239,905 (GRCm39)	R1263W	probably damaging	Het
Fam124b	A	T	1: 80,191,282 (GRCm39)	C34S	possibly damaging	Het
Fan1	C	A	7: 64,022,512 (GRCm39)	G247V	probably benign	Het
Fbxl9	C	A	8: 106,041,916 (GRCm39)	R304L	possibly damaging	Het
Glipr1l3	T	G	10: 111,977,777 (GRCm39)	H218P	probably benign	Het
Gm14305	T	A	2: 176,412,703 (GRCm39)	S198R	probably benign	Het
Gm14326	T	C	2: 177,590,274 (GRCm39)	Y29C	probably damaging	Het
Gm45713	C	T	7: 44,783,426 (GRCm39)	V147I	probably benign	Het
Gpr149	C	T	3: 62,438,160 (GRCm39)	D666N	probably damaging	Het
Gpr183	A	G	14: 122,192,152 (GRCm39)	I123T	possibly damaging	Het
Il7r	A	T	15: 9,513,013 (GRCm39)	H165Q	probably damaging	Het
Krt73	A	G	15: 101,710,480 (GRCm39)	F85L	probably benign	Het
Lrrc8d	A	G	5: 105,960,657 (GRCm39)	T356A	probably damaging	Het
Marco	A	G	1: 120,421,771 (GRCm39)		probably null	Het
Mettl14	T	A	3: 123,177,253 (GRCm39)	E49D	possibly damaging	Het
Mrap	T	A	16: 90,546,110 (GRCm39)		probably null	Het
Mrps34	C	T	17: 25,114,852 (GRCm39)	A152V	probably benign	Het
Nfasc	T	A	1: 132,501,511 (GRCm39)	Y1163F	unknown	Het
Nfic	T	C	10: 81,256,334 (GRCm39)	D110G	probably damaging	Het
Nip7	T	C	8: 107,783,751 (GRCm39)	V28A	possibly damaging	Het
Odam	T	C	5: 88,040,287 (GRCm39)	F251S	possibly damaging	Het
Olfm5	T	A	7: 103,810,979 (GRCm39)	Q53L	probably null	Het
P2ry13	T	G	3: 59,117,545 (GRCm39)	M78L	probably benign	Het
Pacs1	T	C	19: 5,202,727 (GRCm39)	E385G	probably damaging	Het
Pip5k1b	C	T	19: 24,337,343 (GRCm39)	G315D	probably damaging	Het
Pla2g4a	C	A	1: 149,762,022 (GRCm39)	R145L	probably damaging	Het
Pramel26	A	G	4: 143,537,290 (GRCm39)	L347S	probably benign	Het
Rars1	T	C	11: 35,719,579 (GRCm39)	Q81R	probably benign	Het
Rassf7	A	G	7: 140,797,847 (GRCm39)	N296D	probably damaging	Het
Rcsd1	C	T	1: 165,485,262 (GRCm39)	A94T	probably benign	Het
Rgs8	T	C	1: 153,566,668 (GRCm39)	F73S	probably damaging	Het
Rilpl2	A	C	5: 124,616,043 (GRCm39)	Y36D	probably damaging	Het
Rpl10l	A	G	12: 66,331,004 (GRCm39)	V43A	probably benign	Het
Sesn2	T	C	4: 132,224,200 (GRCm39)	I403V	probably damaging	Het
Slc10a4	C	T	5: 73,164,453 (GRCm39)	S15L	unknown	Het
Slc7a5	T	C	8: 122,633,879 (GRCm39)	Y156C	probably damaging	Het
Spata18	A	G	5: 73,826,008 (GRCm39)	H105R		Het
Specc1l	A	G	10: 75,081,636 (GRCm39)	D344G	probably damaging	Het
Syne1	A	G	10: 5,112,461 (GRCm39)	V415A	probably benign	Het
Thbs4	T	G	13: 92,912,070 (GRCm39)	D220A	probably benign	Het
Tmco5	T	C	2: 116,716,752 (GRCm39)	S152P	probably benign	Het
Tmem35b	A	T	4: 127,022,734 (GRCm39)	D125V	probably damaging	Het
Trim17	A	G	11: 58,857,634 (GRCm39)	E155G	possibly damaging	Het
Vmn2r11	A	C	5: 109,195,481 (GRCm39)	V615G	probably benign	Het
Vmn2r88	A	T	14: 51,655,906 (GRCm39)	Q705L		Het
Vmn2r93	A	G	17: 18,525,583 (GRCm39)	R414G	probably benign	Het
Xirp2	T	C	2: 67,339,193 (GRCm39)	L478P	probably damaging	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
R2853:Angptl7	UTSW	4	148,584,736 (GRCm39)	missense	probably benign
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
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'- CCAGAAGAAGTCCTGTTATCCATG -3'
(R):5'- GGCACAGGTTAAGAATCCCC -3'

Sequencing Primer
(F):5'- ATCCATGTACCTTTCAGGGCTGG -3'
(R):5'- AGGTTAAGAATCCCCTTACTCTACTG -3'

Posted On

2019-11-12