Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Angpt4'

64573

Institutional Source

Beutler Lab

Gene Symbol

Angpt4

Ensembl Gene

ENSMUSG00000027460

Gene Name

angiopoietin 4

Synonyms

MMRRC Submission

038328-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0034 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

151753130-151787257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 151771311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 209 (T209I)

Ref Sequence

ENSEMBL: ENSMUSP00000028955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028955]

AlphaFold

Q9WVH6

Predicted Effect

probably benign
Transcript: ENSMUST00000028955
AA Change: T209I

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028955
Gene: ENSMUSG00000027460
AA Change: T209I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	86	95	N/A	INTRINSIC
coiled coil region	181	239	N/A	INTRINSIC
low complexity region	253	267	N/A	INTRINSIC
FBG	292	507	2.23e-98	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: This gene is a member of the angiopoietin family of secreted growth factors comprising Angiopoietins-1, -2, and -3, all of which bind the TEK Receptor Tyrosine Kinase. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is involved in survival and migration of endothelial cells and regulates vascular remodeling and maintenance of vascular integrity. Angiopoietin/TEK Receptor Tyrosine Kinase signaling is also required for lymphangiogenesis. Family members bind TEK Receptor Tyrosine Kinase as multimeric clusters but their oligomerization properties differ from one another and this is thought to provide a mechanistic basis for their distinct physiologic roles. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	C	T	7: 136,989,321 (GRCm39)	R60Q	probably benign	Het
Ap3b1	T	C	13: 94,616,393 (GRCm39)		probably benign	Het
Aplp1	A	C	7: 30,143,867 (GRCm39)	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299 (GRCm39)	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846 (GRCm38)	H844L	probably damaging	Het
Cd14	A	G	18: 36,859,288 (GRCm39)	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,819,225 (GRCm39)	V135I	probably damaging	Het
Cep152	C	T	2: 125,425,813 (GRCm39)	A851T	probably benign	Het
Cfap74	C	T	4: 155,545,344 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,175,708 (GRCm39)	I47L	probably benign	Het
Dnaaf9	T	C	2: 130,578,492 (GRCm39)	H664R	probably damaging	Het
Eef1d	T	C	15: 75,774,808 (GRCm39)	T200A	probably benign	Het
Exoc1l	A	G	5: 76,664,377 (GRCm39)	I155M	probably damaging	Het
Faap100	A	T	11: 120,262,973 (GRCm39)	M795K	probably benign	Het
Gabpb1	C	T	2: 126,500,454 (GRCm39)	R15Q	possibly damaging	Het
Gata4	C	A	14: 63,438,933 (GRCm39)	M381I	probably benign	Het
Gm5114	A	G	7: 39,058,282 (GRCm39)	S446P	possibly damaging	Het
Gnb1	T	A	4: 155,636,146 (GRCm39)	N155K	probably benign	Het
Haspin	G	A	11: 73,029,044 (GRCm39)	T15M	probably damaging	Het
Heatr5a	A	G	12: 51,971,955 (GRCm39)	L745P	probably damaging	Het
Kcng3	T	A	17: 83,895,812 (GRCm39)		probably benign	Het
Kif15	A	T	9: 122,828,350 (GRCm39)	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,135,397 (GRCm39)		probably benign	Het
Kif9	G	A	9: 110,348,679 (GRCm39)	C738Y	probably benign	Het
Kifc2	G	T	15: 76,551,300 (GRCm39)	C613F	probably benign	Het
Klf12	A	G	14: 100,224,865 (GRCm39)		probably null	Het
Lrp1	A	T	10: 127,381,520 (GRCm39)	I3826N	probably benign	Het
Map2k4	A	G	11: 65,610,437 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,093,913 (GRCm39)	S2006P	probably damaging	Het
Or51m1	T	C	7: 103,578,708 (GRCm39)	V226A	probably benign	Het
Pax4	T	C	6: 28,442,448 (GRCm39)	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,455,137 (GRCm39)	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,367,405 (GRCm39)	G768S	probably benign	Het
Plb1	G	T	5: 32,430,457 (GRCm39)	G138V	probably benign	Het
Poln	A	C	5: 34,272,762 (GRCm39)	V398G	possibly damaging	Het
Poteg	A	G	8: 27,952,105 (GRCm39)		probably benign	Het
Rapgef1	C	A	2: 29,614,780 (GRCm39)		probably benign	Het
Rbm43	A	T	2: 51,815,722 (GRCm39)	D166E	probably benign	Het
Rhobtb2	T	C	14: 70,026,137 (GRCm39)	T602A	probably benign	Het
Samd3	G	A	10: 26,147,398 (GRCm39)		probably benign	Het
Sbno2	A	C	10: 79,894,174 (GRCm39)		probably benign	Het
Sec1	A	G	7: 45,328,759 (GRCm39)	V96A	probably benign	Het
Senp7	A	C	16: 55,973,933 (GRCm39)	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,955,902 (GRCm39)	V301A	probably damaging	Het
Sgpl1	A	T	10: 60,938,392 (GRCm39)	M467K	probably damaging	Het
Slc22a26	A	G	19: 7,779,618 (GRCm39)	I66T	probably benign	Het
Stra6	G	A	9: 58,058,752 (GRCm39)		probably null	Het
Tfrc	T	A	16: 32,434,214 (GRCm39)		probably null	Het
Tmem30b	T	C	12: 73,592,779 (GRCm39)	Y112C	probably damaging	Het
Trap1	A	T	16: 3,886,894 (GRCm39)		probably benign	Het
Trpc1	A	G	9: 95,631,814 (GRCm39)	S43P	probably damaging	Het
Tsku	T	C	7: 98,001,870 (GRCm39)	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,322,292 (GRCm39)	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,314,738 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,435 (GRCm39)	W364R	probably damaging	Het
Wnk2	G	T	13: 49,221,556 (GRCm39)	T377K	possibly damaging	Het
Zfta	C	A	19: 7,397,724 (GRCm39)	H90Q	probably damaging	Het
Zscan20	T	C	4: 128,479,455 (GRCm39)	N1012S	probably damaging	Het

Other mutations in Angpt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02900:Angpt4	APN	2	151,753,391 (GRCm39)	missense	probably damaging	0.99
IGL03107:Angpt4	APN	2	151,785,342 (GRCm39)	missense	probably benign	0.08
IGL03343:Angpt4	APN	2	151,778,623 (GRCm39)	missense	probably damaging	1.00
R0709:Angpt4	UTSW	2	151,776,434 (GRCm39)	missense	possibly damaging	0.46
R0764:Angpt4	UTSW	2	151,753,204 (GRCm39)	start gained	probably benign
R0853:Angpt4	UTSW	2	151,780,847 (GRCm39)	missense	probably damaging	1.00
R1796:Angpt4	UTSW	2	151,780,909 (GRCm39)	missense	probably damaging	1.00
R2091:Angpt4	UTSW	2	151,778,703 (GRCm39)	splice site	probably benign
R2184:Angpt4	UTSW	2	151,780,874 (GRCm39)	missense	probably damaging	1.00
R2901:Angpt4	UTSW	2	151,753,259 (GRCm39)	missense	unknown
R3014:Angpt4	UTSW	2	151,771,517 (GRCm39)	missense	probably benign	0.07
R4192:Angpt4	UTSW	2	151,785,238 (GRCm39)	missense	probably benign
R4440:Angpt4	UTSW	2	151,786,566 (GRCm39)	missense	probably damaging	1.00
R5059:Angpt4	UTSW	2	151,776,360 (GRCm39)	missense	probably damaging	1.00
R5326:Angpt4	UTSW	2	151,767,464 (GRCm39)	critical splice donor site	probably null
R6345:Angpt4	UTSW	2	151,771,354 (GRCm39)	missense	probably benign	0.00
R7232:Angpt4	UTSW	2	151,771,460 (GRCm39)	missense	possibly damaging	0.63
R7313:Angpt4	UTSW	2	151,767,326 (GRCm39)	missense	probably benign
R7456:Angpt4	UTSW	2	151,780,987 (GRCm39)	missense	probably damaging	1.00
R7598:Angpt4	UTSW	2	151,767,445 (GRCm39)	missense	possibly damaging	0.95
R7823:Angpt4	UTSW	2	151,753,286 (GRCm39)	missense	unknown
R8261:Angpt4	UTSW	2	151,769,084 (GRCm39)	missense	probably benign	0.00
R8682:Angpt4	UTSW	2	151,769,005 (GRCm39)	missense	probably benign	0.00
R8730:Angpt4	UTSW	2	151,771,467 (GRCm39)	missense	probably damaging	0.99
R8861:Angpt4	UTSW	2	151,767,373 (GRCm39)	missense	probably damaging	1.00
R9359:Angpt4	UTSW	2	151,780,892 (GRCm39)	missense	probably damaging	0.98
R9403:Angpt4	UTSW	2	151,780,892 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGACTATCTCCTTTGGGGTGGGAC -3'
(R):5'- AGCTGGAATTGCTGCTGAGAGC -3'

Sequencing Primer
(F):5'- CTACAGTGGACACAGactaacagac -3'
(R):5'- CGTGCAGATTGTGCTTCAG -3'

Posted On

2013-08-06