Mutagenetix > Incidental Mutation

Incidental Mutation 'R5878:Aggf1'

490537

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

044084-MU

Accession Numbers

Essential gene?

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

Stock #

R5878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95487191-95511860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95506065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 174 (E174G)

Ref Sequence

ENSEMBL: ENSMUSP00000022189 (fasta)

Gene Model

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

AlphaFold

Q7TN31

Predicted Effect

probably benign
Transcript: ENSMUST00000022189
AA Change: E174G

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681
AA Change: E174G

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

Meta Mutation Damage Score

0.0714

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

99% (66/67)

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
Abca12	A	T	1: 71,385,792 (GRCm39)	N275K	possibly damaging	Het
Abhd6	G	A	14: 8,028,286 (GRCm38)	V6I	probably benign	Het
Afap1l2	T	C	19: 56,904,107 (GRCm39)	T727A	probably benign	Het
Ahnak	T	G	19: 8,985,706 (GRCm39)	L2330R	probably damaging	Het
Arb2a	T	A	13: 78,100,186 (GRCm39)	V129E	probably damaging	Het
Arfgef2	A	G	2: 166,712,137 (GRCm39)	T1205A	probably benign	Het
Ccdc3	T	C	2: 5,233,827 (GRCm39)	L217P	probably benign	Het
Cfap54	T	C	10: 92,800,423 (GRCm39)	D1595G	probably benign	Het
Cps1	G	T	1: 67,197,037 (GRCm39)		probably null	Het
Fam120b	A	G	17: 15,622,502 (GRCm39)	D160G	probably damaging	Het
Fezf1	C	A	6: 23,247,580 (GRCm39)	R165L	possibly damaging	Het
Fkbp15	A	T	4: 62,225,145 (GRCm39)	L838H	probably benign	Het
Frmd3	G	A	4: 74,071,847 (GRCm39)	G243D	probably damaging	Het
Gldc	A	T	19: 30,120,867 (GRCm39)		probably null	Het
Gm10188	T	C	1: 132,156,940 (GRCm39)		probably benign	Het
Gm5190	T	A	12: 113,360,859 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,208,628 (GRCm39)		probably null	Het
Hdhd5	A	G	6: 120,491,485 (GRCm39)	L206P	probably damaging	Het
Herc2	A	G	7: 55,773,996 (GRCm39)	N1149S	probably benign	Het
Inca1	G	A	11: 70,586,808 (GRCm39)		probably benign	Het
Iqch	G	A	9: 63,455,272 (GRCm39)	S175F	probably damaging	Het
Itpr3	T	G	17: 27,329,836 (GRCm39)	D1543E	probably benign	Het
Khk	T	A	5: 31,088,219 (GRCm39)		probably null	Het
Kiz	C	T	2: 146,731,521 (GRCm39)	S337L	probably damaging	Het
Lzts3	G	A	2: 130,478,459 (GRCm39)	T213I	probably damaging	Het
Mab21l2	T	A	3: 86,454,025 (GRCm39)	D325V	probably damaging	Het
Mctp2	A	G	7: 71,863,856 (GRCm39)	S336P	probably benign	Het
Me3	T	A	7: 89,497,214 (GRCm39)	L405Q	probably benign	Het
Mgst2	A	T	3: 51,568,651 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,083,330 (GRCm39)	E1431G	probably damaging	Het
Naip6	A	G	13: 100,436,181 (GRCm39)	S781P	probably damaging	Het
Nr3c2	A	G	8: 77,634,897 (GRCm39)		probably null	Het
Or10ab5	A	T	7: 108,244,946 (GRCm39)	L279Q	probably damaging	Het
Or6s1	A	G	14: 51,308,449 (GRCm39)	Y134H	probably damaging	Het
Or6x1	C	T	9: 40,098,867 (GRCm39)	T152I	probably benign	Het
Otop1	G	T	5: 38,435,166 (GRCm39)	R132L	possibly damaging	Het
Parg	T	A	14: 31,939,619 (GRCm39)	D548E	possibly damaging	Het
Pcdhga4	G	T	18: 37,820,739 (GRCm39)	G763W	probably benign	Het
Pde10a	A	G	17: 9,168,204 (GRCm39)	N9S	possibly damaging	Het
Pi4k2a	T	C	19: 42,089,080 (GRCm39)	I147T	probably benign	Het
Polh	T	A	17: 46,505,251 (GRCm39)	T122S	probably damaging	Het
Ptpn13	T	C	5: 103,624,984 (GRCm39)	V96A	possibly damaging	Het
Ptpn6	C	A	6: 124,705,748 (GRCm39)	C132F	probably damaging	Het
Rbm19	T	A	5: 120,270,932 (GRCm39)	V585E	probably damaging	Het
Relch	T	A	1: 105,620,685 (GRCm39)	S387T	probably benign	Het
Rp1l1	C	T	14: 64,266,355 (GRCm39)	P647L	probably benign	Het
Rrp1b	A	G	17: 32,266,649 (GRCm39)	E72G	probably damaging	Het
Shcbp1	A	T	8: 4,798,742 (GRCm39)	H392Q	probably benign	Het
Skic2	C	T	17: 35,065,093 (GRCm39)	R371Q	possibly damaging	Het
Slc13a5	G	A	11: 72,144,217 (GRCm39)	T287I	possibly damaging	Het
Slc22a27	T	A	19: 7,904,122 (GRCm39)	E5V	probably benign	Het
Slc38a2	A	G	15: 96,590,465 (GRCm39)	V293A	probably damaging	Het
Slco6d1	T	A	1: 98,391,561 (GRCm39)		probably benign	Het
Sri	G	C	5: 8,109,353 (GRCm39)	D46H	probably damaging	Het
Tango6	A	G	8: 107,415,800 (GRCm39)	D207G	possibly damaging	Het
Tigd4	T	C	3: 84,501,749 (GRCm39)	M222T	probably benign	Het
Tmem229a	T	C	6: 24,955,172 (GRCm39)	D194G	probably benign	Het
Trank1	T	C	9: 111,195,753 (GRCm39)	V1259A	possibly damaging	Het
Trdv5	T	C	14: 54,386,255 (GRCm39)	D70G	probably benign	Het
Trim52	T	A	14: 106,344,375 (GRCm39)	M11K	probably damaging	Het
Wdr62	A	G	7: 29,940,772 (GRCm39)	M882T	probably benign	Het
Ybx3	A	G	6: 131,344,726 (GRCm39)		probably null	Het
Zfand2b	A	G	1: 75,147,154 (GRCm39)		probably benign	Het
Zfp91	T	A	19: 12,747,684 (GRCm39)	T480S	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
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
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'- GCTATGAGGCAGCTGCAAAC -3'
(R):5'- CAGGCCTCTGTCTTATCTGCAG -3'

Sequencing Primer
(F):5'- CCCAACAGTGCAGTGTTAGG -3'
(R):5'- CTGTCTTATCTGCAGCAAAGAC -3'

Posted On

2017-10-20