Mutagenetix > Incidental Mutation

Incidental Mutation 'R0647:Aggf1'

57289

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

038832-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.490) question?

Stock #

R0647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95487191-95511860 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 95508164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022189 (fasta)

Gene Model

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

AlphaFold

Q7TN31

Predicted Effect

probably null
Transcript: ENSMUST00000022189

SMART Domains

Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161671

Coding Region Coverage

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

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	C	A	11: 50,494,265 (GRCm39)	T113K	probably damaging	Het
Adgre1	T	A	17: 57,718,003 (GRCm39)	N338K	probably damaging	Het
Apc2	A	T	10: 80,140,762 (GRCm39)	I206F	probably damaging	Het
Carmil3	T	C	14: 55,739,892 (GRCm39)		probably null	Het
Ccdc110	A	C	8: 46,396,425 (GRCm39)	E772A	probably damaging	Het
Cdh23	A	G	10: 60,143,681 (GRCm39)	F2977L	probably damaging	Het
Cdh23	A	T	10: 60,159,153 (GRCm39)	Y2207*	probably null	Het
Cfap20dc	T	A	14: 8,536,655 (GRCm38)	D184V	possibly damaging	Het
Chd4	T	A	6: 125,086,086 (GRCm39)	N908K	probably damaging	Het
Chst9	A	G	18: 15,585,726 (GRCm39)	I279T	probably damaging	Het
Ctnna3	A	T	10: 63,656,203 (GRCm39)	N261I	probably benign	Het
Dlgap2	A	T	8: 14,777,591 (GRCm39)	S279C	possibly damaging	Het
Dock4	G	A	12: 40,760,883 (GRCm39)	E524K	probably damaging	Het
Fabp12	T	A	3: 10,311,096 (GRCm39)	N122I	possibly damaging	Het
Fam184b	T	C	5: 45,741,932 (GRCm39)	T100A	probably benign	Het
Fbxl5	T	C	5: 43,925,411 (GRCm39)	D176G	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Foxe1	A	G	4: 46,344,477 (GRCm39)	N95S	possibly damaging	Het
Frem3	A	G	8: 81,341,814 (GRCm39)	E1369G	probably damaging	Het
Frmpd4	C	T	X: 166,272,006 (GRCm39)	E483K	probably damaging	Het
Gbp11	T	C	5: 105,478,830 (GRCm39)	K203E	possibly damaging	Het
Hs3st6	C	T	17: 24,977,134 (GRCm39)	R205C	probably damaging	Het
Ifitm10	C	T	7: 141,909,772 (GRCm39)	S179N	probably damaging	Het
Irx2	A	C	13: 72,778,799 (GRCm39)	N121T	probably damaging	Het
Itih1	A	T	14: 30,657,820 (GRCm39)	V417E	probably damaging	Het
Itpr1	A	C	6: 108,360,659 (GRCm39)	E695A	probably damaging	Het
Kif1c	T	A	11: 70,616,967 (GRCm39)	I755K	probably damaging	Het
Lamb3	A	G	1: 193,013,104 (GRCm39)	E443G	probably damaging	Het
Lrp1	G	C	10: 127,407,346 (GRCm39)	T1865R	probably damaging	Het
Lrrc8b	T	A	5: 105,628,473 (GRCm39)	I273K	possibly damaging	Het
Ly9	T	C	1: 171,427,376 (GRCm39)	Y393C	probably damaging	Het
Mphosph8	T	C	14: 56,911,862 (GRCm39)	V295A	probably benign	Het
Nlrp5	T	A	7: 23,117,132 (GRCm39)	D269E	probably damaging	Het
Or1r1	G	A	11: 73,874,597 (GRCm39)	A279V	probably damaging	Het
Or2t6	T	G	14: 14,175,858 (GRCm38)	T75P	probably benign	Het
Or4k44	A	G	2: 111,367,704 (GRCm39)	V310A	probably benign	Het
Or52u1	T	G	7: 104,237,322 (GRCm39)	F104V	probably damaging	Het
Or5p50	T	A	7: 107,422,218 (GRCm39)	I153F	probably benign	Het
Otud3	A	G	4: 138,640,948 (GRCm39)	L64P	probably damaging	Het
Pcdh17	A	T	14: 84,685,213 (GRCm39)	H560L	possibly damaging	Het
Pcdhb21	T	C	18: 37,646,913 (GRCm39)	V14A	probably damaging	Het
Prss3l	A	T	6: 41,420,275 (GRCm39)	F150L	probably benign	Het
Rbfox1	A	T	16: 7,042,248 (GRCm39)	Q14L	probably damaging	Het
Rbm44	A	G	1: 91,084,650 (GRCm39)	D665G	probably benign	Het
Rc3h2	C	T	2: 37,299,542 (GRCm39)	V163M	probably damaging	Het
Sash1	T	A	10: 8,605,316 (GRCm39)	R1025W	probably damaging	Het
Sgpl1	A	G	10: 60,949,267 (GRCm39)	S146P	probably damaging	Het
Slc27a2	G	A	2: 126,429,836 (GRCm39)	D615N	probably benign	Het
Smap1	A	G	1: 23,892,559 (GRCm39)	I135T	probably damaging	Het
Snapc3	A	G	4: 83,368,466 (GRCm39)	D321G	probably damaging	Het
St6galnac4	C	T	2: 32,479,460 (GRCm39)	R6C	probably damaging	Het
Syne2	C	T	12: 75,934,977 (GRCm39)	P153L	probably benign	Het
Tiprl	A	G	1: 165,050,092 (GRCm39)		probably null	Het
Tmem94	A	G	11: 115,687,621 (GRCm39)	N1160S	probably damaging	Het
Trim65	G	A	11: 116,019,036 (GRCm39)	R168C	possibly damaging	Het
Txndc16	A	T	14: 45,406,732 (GRCm39)	I241N	probably damaging	Het
Txndc16	T	A	14: 45,402,818 (GRCm39)	R101*	probably null	Het
Ugt2b38	A	G	5: 87,571,328 (GRCm39)	S235P	probably benign	Het
Ugt3a1	A	T	15: 9,310,635 (GRCm39)	M306L	probably benign	Het
Vmn1r23	T	A	6: 57,903,169 (GRCm39)	Y203F	probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Wdfy4	A	G	14: 32,831,656 (GRCm39)	C857R	possibly damaging	Het
Zfp493	A	C	13: 67,931,994 (GRCm39)	K31T	possibly 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
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
R7682:Aggf1	UTSW	13	95,504,934 (GRCm39)	missense	probably benign	0.41
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'- AGCTGTACCCACTGAAACCCTGAG -3'
(R):5'- AGGTCAGCCTTGACTTGTGAATGC -3'

Sequencing Primer
(F):5'- tgttccagacgcctttacc -3'
(R):5'- CTTGACTTGTGAATGCTGAAAAAGG -3'

Posted On

2013-07-11