Mutagenetix > Incidental Mutation

Incidental Mutation 'R7682:Aggf1'

592839

Institutional Source

Beutler Lab

Gene Symbol

Aggf1

Ensembl Gene

ENSMUSG00000021681

Gene Name

angiogenic factor with G patch and FHA domains 1

Synonyms

2310029P06Rik, 2010009L17Rik, VG5Q

MMRRC Submission

045748-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R7682 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95487191-95511860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95504934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 275 (K275R)

Ref Sequence

ENSEMBL: ENSMUSP00000022189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022189]

AlphaFold

Q7TN31

Predicted Effect

probably benign
Transcript: ENSMUST00000022189
AA Change: K275R

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681
AA Change: K275R

Domain	Start	End	E-Value	Type
coiled coil region	20	85	N/A	INTRINSIC
low complexity region	128	137	N/A	INTRINSIC
low complexity region	184	201	N/A	INTRINSIC
internal_repeat_1	205	225	4.68e-9	PROSPERO
internal_repeat_1	221	241	4.68e-9	PROSPERO
low complexity region	270	280	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC
low complexity region	380	401	N/A	INTRINSIC
FHA	430	484	1.51e-9	SMART
low complexity region	548	561	N/A	INTRINSIC
G_patch	614	660	1.31e-12	SMART

Coding Region Coverage

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

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null embryos die before E8.5. Heterozygotes exhibit defective angiogenesis in yolk sacs and embryos and partial lethality. Surviving adults show hemorrhages, increased vascular permeability, and reduced tumor growth of implanted melanoma cell lines. [provided by MGI curators]

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
Alpk1	T	C	3: 127,466,195 (GRCm39)	I1104V	possibly damaging	Het
Angptl7	A	T	4: 148,582,539 (GRCm39)	I119N	probably 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 Aggf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Aggf1	APN	13	95,498,985 (GRCm39)	missense	probably damaging	1.00
IGL01083:Aggf1	APN	13	95,492,917 (GRCm39)	missense	probably damaging	1.00
IGL01296:Aggf1	APN	13	95,490,479 (GRCm39)	missense	probably damaging	1.00
IGL01811:Aggf1	APN	13	95,488,080 (GRCm39)	missense	probably benign	0.04
IGL02089:Aggf1	APN	13	95,507,437 (GRCm39)	missense	probably benign	0.22
IGL02351:Aggf1	APN	13	95,489,358 (GRCm39)	splice site	probably benign
IGL02358:Aggf1	APN	13	95,489,358 (GRCm39)	splice site	probably benign
IGL02534:Aggf1	APN	13	95,506,030 (GRCm39)	missense	possibly damaging	0.76
PIT4687001:Aggf1	UTSW	13	95,501,383 (GRCm39)	missense	probably damaging	0.99
R0090:Aggf1	UTSW	13	95,501,467 (GRCm39)	missense	probably benign	0.01
R0189:Aggf1	UTSW	13	95,492,988 (GRCm39)	splice site	probably benign
R0332:Aggf1	UTSW	13	95,505,954 (GRCm39)	missense	probably damaging	1.00
R0334:Aggf1	UTSW	13	95,508,105 (GRCm39)	missense	probably benign	0.02
R0445:Aggf1	UTSW	13	95,490,509 (GRCm39)	missense	possibly damaging	0.74
R0523:Aggf1	UTSW	13	95,492,924 (GRCm39)	missense	probably damaging	0.99
R0575:Aggf1	UTSW	13	95,504,905 (GRCm39)	missense	probably benign	0.02
R0647:Aggf1	UTSW	13	95,508,164 (GRCm39)	splice site	probably null
R1401:Aggf1	UTSW	13	95,501,356 (GRCm39)	missense	probably benign	0.02
R1495:Aggf1	UTSW	13	95,492,921 (GRCm39)	nonsense	probably null
R1542:Aggf1	UTSW	13	95,507,450 (GRCm39)	missense	probably benign	0.00
R1688:Aggf1	UTSW	13	95,501,275 (GRCm39)	missense	probably damaging	1.00
R2225:Aggf1	UTSW	13	95,507,354 (GRCm39)	missense	probably damaging	0.96
R2226:Aggf1	UTSW	13	95,507,354 (GRCm39)	missense	probably damaging	0.96
R4405:Aggf1	UTSW	13	95,508,102 (GRCm39)	missense	probably benign	0.00
R4764:Aggf1	UTSW	13	95,501,221 (GRCm39)	missense	probably damaging	0.96
R5819:Aggf1	UTSW	13	95,488,129 (GRCm39)	missense	possibly damaging	0.76
R5878:Aggf1	UTSW	13	95,506,065 (GRCm39)	missense	probably benign	0.18
R5946:Aggf1	UTSW	13	95,508,084 (GRCm39)	missense	probably damaging	1.00
R6056:Aggf1	UTSW	13	95,508,123 (GRCm39)	missense	probably benign	0.00
R6823:Aggf1	UTSW	13	95,501,231 (GRCm39)	missense	probably benign	0.11
R7051:Aggf1	UTSW	13	95,488,125 (GRCm39)	missense	possibly damaging	0.94
R7638:Aggf1	UTSW	13	95,492,921 (GRCm39)	nonsense	probably null
R7903:Aggf1	UTSW	13	95,492,966 (GRCm39)	missense	probably damaging	1.00
R9387:Aggf1	UTSW	13	95,507,461 (GRCm39)	missense	probably damaging	1.00
R9502:Aggf1	UTSW	13	95,507,450 (GRCm39)	missense	probably benign	0.00
RF014:Aggf1	UTSW	13	95,507,276 (GRCm39)	missense	possibly damaging	0.87
X0010:Aggf1	UTSW	13	95,501,485 (GRCm39)	missense	probably benign
X0064:Aggf1	UTSW	13	95,499,378 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTACTTCTAATGACTGAGTTTGT -3'
(R):5'- CTTACCGTGGAAAGCAGAGCA -3'

Sequencing Primer
(F):5'- CTTTAATCTCAGCACTCGGGAGG -3'
(R):5'- CGGTACCAGTTTCACTCT -3'

Posted On

2019-11-12