Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01444:Ang'

84344

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ang

Ensembl Gene

ENSMUSG00000072115

Gene Name

angiogenin, ribonuclease, RNase A family, 5

Synonyms

Ang1, Rnase5a

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

51091150-51102009 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 51101667 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 88 (Y88*)

Ref Sequence

ENSEMBL: ENSMUSP00000132084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022428] [ENSMUST00000069011] [ENSMUST00000169895] [ENSMUST00000171688]

Predicted Effect

probably benign
Transcript: ENSMUST00000022428

SMART Domains

Protein: ENSMUSP00000022428
Gene: ENSMUSG00000021876

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
RNAse_Pc	30	148	8.54e-60	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000069011
AA Change: Y88*

SMART Domains

Protein: ENSMUSP00000067434
Gene: ENSMUSG00000072115
AA Change: Y88*

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
RNAse_Pc	26	142	6.52e-65	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169895

SMART Domains

Protein: ENSMUSP00000127274
Gene: ENSMUSG00000021876

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
RNAse_Pc	30	148	8.54e-60	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000171688
AA Change: Y88*

SMART Domains

Protein: ENSMUSP00000132084
Gene: ENSMUSG00000072115
AA Change: Y88*

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
RNAse_Pc	26	142	6.52e-65	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the pancreatic ribonuclease A superfamily and is a potent inducer of neovascularization. The encoded protein is a secreted multifunctional tRNA-specific ribonuclease that promotes angiogenesis in response to angiogenetic stimuli such as hypoxia, mediates stress-induced translational repression by cleaving cellular tRNAs, stimulates cell proliferation by mediating rRNA transcription in prostate cancer cells, and is involved in neurite pathfinding. This gene resides in a cluster of highly related genes. It shares dual promoters and 5' exons with the ribonuclease, RNase A family 4 gene. Two alternatively spliced variants, with different 5' exons but the same coding exon, have been identified. Multiple pseudogenes have been found for this gene. [provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	G	11: 23,620,225		probably benign	Het
Adad1	A	T	3: 37,092,034	N517I	probably damaging	Het
Adam25	G	A	8: 40,754,921	R408H	probably benign	Het
Ankrd42	T	C	7: 92,610,585	T327A	probably damaging	Het
Birc6	A	G	17: 74,631,687	D2696G	probably damaging	Het
Chd3	G	A	11: 69,348,742	T1717M	probably benign	Het
Csmd1	T	A	8: 16,200,055	M970L	probably benign	Het
Dhx32	T	C	7: 133,748,977	I121M	possibly damaging	Het
Dnah11	G	A	12: 118,020,232	S2506F	possibly damaging	Het
Dscam	T	A	16: 96,673,709	I1218F	possibly damaging	Het
Duox1	T	C	2: 122,340,090	L1197P	probably damaging	Het
Eps8l2	T	C	7: 141,361,375		probably benign	Het
Exoc3	T	C	13: 74,206,935	K49R	probably damaging	Het
Exoc8	T	A	8: 124,895,841	T596S	possibly damaging	Het
F13a1	C	T	13: 36,918,577	G391R	probably null	Het
Fam35a	C	A	14: 34,237,557	V823F	probably damaging	Het
Fat3	A	T	9: 15,998,848	S1953T	probably damaging	Het
Gls2	C	A	10: 128,201,347	N252K	probably damaging	Het
Gm5346	A	T	8: 43,626,433	D251E	probably benign	Het
Haus2	G	A	2: 120,615,942	R115K	probably benign	Het
Ift122	A	G	6: 115,884,379	K262E	probably benign	Het
Islr2	C	T	9: 58,198,378	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,443,716	F3997I	possibly damaging	Het
Nt5c1a	C	T	4: 123,216,169	R354W	probably damaging	Het
Olfr776	T	A	10: 129,261,335	C125S	probably damaging	Het
Pcolce	A	T	5: 137,607,476	S200R	probably damaging	Het
Plec	A	G	15: 76,179,297	V2213A	possibly damaging	Het
Prmt3	T	A	7: 49,780,372	D74E	probably benign	Het
Ptk7	A	G	17: 46,565,387	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,475,300	Y887H	possibly damaging	Het
Sez6l2	G	A	7: 126,961,883	E447K	possibly damaging	Het
Snrnp70	C	T	7: 45,387,236		probably null	Het
Timm10	T	A	2: 84,829,864	V49E	probably damaging	Het
Tox2	T	C	2: 163,225,466		probably benign	Het
Usp20	T	A	2: 30,998,789	M1K	probably null	Het
Usp32	A	C	11: 85,059,164	L223V	probably damaging	Het
Zeb1	T	C	18: 5,767,138	S550P	probably benign	Het
Zeb1	G	T	18: 5,767,906	A806S	probably damaging	Het

Other mutations in Ang

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1716:Ang	UTSW	14	51101480	missense	probably benign	0.01
R1716:Ang	UTSW	14	51101500	missense	probably damaging	1.00
R1989:Ang	UTSW	14	51101551	missense	probably damaging	1.00
R2407:Ang	UTSW	14	51101646	nonsense	probably null
R2860:Ang	UTSW	14	51101818	missense	probably damaging	1.00
R2861:Ang	UTSW	14	51101818	missense	probably damaging	1.00
R2862:Ang	UTSW	14	51101818	missense	probably damaging	1.00
R5807:Ang	UTSW	14	51101429	intron	probably benign
R7303:Ang	UTSW	14	51101516	missense	probably benign	0.02
R7322:Ang	UTSW	14	51101411	missense	unknown
X0024:Ang	UTSW	14	51101575	missense	probably benign

Posted On

2013-11-11