Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Aggf1'

590095

Institutional Source

Beutler Lab

Gene Symbol

Aggf1

Ensembl Gene

ENSMUSG00000021681

Gene Name

angiogenic factor with G patch and FHA domains 1

Synonyms

2010009L17Rik, 2310029P06Rik, VG5Q

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95350683-95375352 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 95356413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 563 (R563*)

Ref Sequence

ENSEMBL: ENSMUSP00000022189 (fasta)

Gene Model

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

AlphaFold

Q7TN31

Predicted Effect

probably null
Transcript: ENSMUST00000022189
AA Change: R563*

SMART Domains

Protein: ENSMUSP00000022189
Gene: ENSMUSG00000021681
AA Change: R563*

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
BC027072	T	C	17: 71,750,885	D599G	probably damaging	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Casq2	A	G	3: 102,086,700	E21G	possibly damaging	Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Hivep2	T	G	10: 14,143,851	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Mboat2	T	C	12: 24,939,326	S162P	probably damaging	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pigv	T	C	4: 133,665,451	D136G	possibly damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Prkce	T	C	17: 86,168,600	V3A	probably benign	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm20	A	C	19: 53,814,333	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Srcap	A	G	7: 127,538,748	N1090S	probably benign	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883	H136L	probably benign	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	possibly damaging	Het

Other mutations in Aggf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Aggf1	APN	13	95362477	missense	probably damaging	1.00
IGL01083:Aggf1	APN	13	95356409	missense	probably damaging	1.00
IGL01296:Aggf1	APN	13	95353971	missense	probably damaging	1.00
IGL01811:Aggf1	APN	13	95351572	missense	probably benign	0.04
IGL02089:Aggf1	APN	13	95370929	missense	probably benign	0.22
IGL02351:Aggf1	APN	13	95352850	splice site	probably benign
IGL02358:Aggf1	APN	13	95352850	splice site	probably benign
IGL02534:Aggf1	APN	13	95369522	missense	possibly damaging	0.76
PIT4687001:Aggf1	UTSW	13	95364875	missense	probably damaging	0.99
R0090:Aggf1	UTSW	13	95364959	missense	probably benign	0.01
R0189:Aggf1	UTSW	13	95356480	splice site	probably benign
R0332:Aggf1	UTSW	13	95369446	missense	probably damaging	1.00
R0334:Aggf1	UTSW	13	95371597	missense	probably benign	0.02
R0445:Aggf1	UTSW	13	95354001	missense	possibly damaging	0.74
R0523:Aggf1	UTSW	13	95356416	missense	probably damaging	0.99
R0575:Aggf1	UTSW	13	95368397	missense	probably benign	0.02
R0647:Aggf1	UTSW	13	95371656	splice site	probably null
R1401:Aggf1	UTSW	13	95364848	missense	probably benign	0.02
R1495:Aggf1	UTSW	13	95356413	nonsense	probably null
R1542:Aggf1	UTSW	13	95370942	missense	probably benign	0.00
R1688:Aggf1	UTSW	13	95364767	missense	probably damaging	1.00
R2225:Aggf1	UTSW	13	95370846	missense	probably damaging	0.96
R2226:Aggf1	UTSW	13	95370846	missense	probably damaging	0.96
R4405:Aggf1	UTSW	13	95371594	missense	probably benign	0.00
R4764:Aggf1	UTSW	13	95364713	missense	probably damaging	0.96
R5819:Aggf1	UTSW	13	95351621	missense	possibly damaging	0.76
R5878:Aggf1	UTSW	13	95369557	missense	probably benign	0.18
R5946:Aggf1	UTSW	13	95371576	missense	probably damaging	1.00
R6056:Aggf1	UTSW	13	95371615	missense	probably benign	0.00
R6823:Aggf1	UTSW	13	95364723	missense	probably benign	0.11
R7051:Aggf1	UTSW	13	95351617	missense	possibly damaging	0.94
R7682:Aggf1	UTSW	13	95368426	missense	probably benign	0.41
R7903:Aggf1	UTSW	13	95356458	missense	probably damaging	1.00
R9387:Aggf1	UTSW	13	95370953	missense	probably damaging	1.00
R9502:Aggf1	UTSW	13	95370942	missense	probably benign	0.00
RF014:Aggf1	UTSW	13	95370768	missense	possibly damaging	0.87
X0010:Aggf1	UTSW	13	95364977	missense	probably benign
X0064:Aggf1	UTSW	13	95362870	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCCACTTTGGTTTCTGAGAG -3'
(R):5'- CCACAAATGTTAGCCCCATG -3'

Sequencing Primer
(F):5'- GGCTAACTGATTCAAATAGCCTGGC -3'
(R):5'- CCTGGGTTAGATATCTCAGCATAG -3'

Posted On

2019-10-24