Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02351:Aggf1'

289496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aggf1

Ensembl Gene

ENSMUSG00000021681

Gene Name

angiogenic factor with G patch and FHA domains 1

Synonyms

2310029P06Rik, 2010009L17Rik, VG5Q

Accession Numbers

Essential gene?

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

Stock #

IGL02351

Quality Score

Status

Chromosome

Chromosomal Location

95487191-95511860 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 95489358 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 benign
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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Skap1	T	A	11: 96,599,382 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	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
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
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

Posted On

2015-04-16