Mutagenetix > Incidental Mutation

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

Rnase5a, Ang1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

51328607-51339462 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 51339124 bp (GRCm39)

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]

AlphaFold

P21570

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
Adad1	A	T	3: 37,146,183 (GRCm39)	N517I	probably damaging	Het
Adam25	G	A	8: 41,207,958 (GRCm39)	R408H	probably benign	Het
Adam34l	A	T	8: 44,079,470 (GRCm39)	D251E	probably benign	Het
Ankrd42	T	C	7: 92,259,793 (GRCm39)	T327A	probably damaging	Het
Birc6	A	G	17: 74,938,682 (GRCm39)	D2696G	probably damaging	Het
Chd3	G	A	11: 69,239,568 (GRCm39)	T1717M	probably benign	Het
Csmd1	T	A	8: 16,250,069 (GRCm39)	M970L	probably benign	Het
Dhx32	T	C	7: 133,350,706 (GRCm39)	I121M	possibly damaging	Het
Dnah11	G	A	12: 117,983,967 (GRCm39)	S2506F	possibly damaging	Het
Dscam	T	A	16: 96,474,909 (GRCm39)	I1218F	possibly damaging	Het
Duox1	T	C	2: 122,170,571 (GRCm39)	L1197P	probably damaging	Het
Eps8l2	T	C	7: 140,941,288 (GRCm39)		probably benign	Het
Exoc3	T	C	13: 74,355,054 (GRCm39)	K49R	probably damaging	Het
Exoc8	T	A	8: 125,622,580 (GRCm39)	T596S	possibly damaging	Het
F13a1	C	T	13: 37,102,551 (GRCm39)	G391R	probably null	Het
Fat3	A	T	9: 15,910,144 (GRCm39)	S1953T	probably damaging	Het
Gls2	C	A	10: 128,037,216 (GRCm39)	N252K	probably damaging	Het
Haus2	G	A	2: 120,446,423 (GRCm39)	R115K	probably benign	Het
Ift122	A	G	6: 115,861,340 (GRCm39)	K262E	probably benign	Het
Islr2	C	T	9: 58,105,661 (GRCm39)	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,274,060 (GRCm39)	F3997I	possibly damaging	Het
Nt5c1a	C	T	4: 123,109,962 (GRCm39)	R354W	probably damaging	Het
Or6c206	T	A	10: 129,097,204 (GRCm39)	C125S	probably damaging	Het
Pcolce	A	T	5: 137,605,738 (GRCm39)	S200R	probably damaging	Het
Plec	A	G	15: 76,063,497 (GRCm39)	V2213A	possibly damaging	Het
Prmt3	T	A	7: 49,430,120 (GRCm39)	D74E	probably benign	Het
Ptk7	A	G	17: 46,876,313 (GRCm39)	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,311,122 (GRCm39)	Y887H	possibly damaging	Het
Sanbr	T	G	11: 23,570,225 (GRCm39)		probably benign	Het
Sez6l2	G	A	7: 126,561,055 (GRCm39)	E447K	possibly damaging	Het
Shld2	C	A	14: 33,959,514 (GRCm39)	V823F	probably damaging	Het
Snrnp70	C	T	7: 45,036,660 (GRCm39)		probably null	Het
Timm10	T	A	2: 84,660,208 (GRCm39)	V49E	probably damaging	Het
Tox2	T	C	2: 163,067,386 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,888,801 (GRCm39)	M1K	probably null	Het
Usp32	A	C	11: 84,949,990 (GRCm39)	L223V	probably damaging	Het
Zeb1	G	T	18: 5,767,906 (GRCm39)	A806S	probably damaging	Het
Zeb1	T	C	18: 5,767,138 (GRCm39)	S550P	probably benign	Het

Other mutations in Ang

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1716:Ang	UTSW	14	51,338,957 (GRCm39)	missense	probably damaging	1.00
R1716:Ang	UTSW	14	51,338,937 (GRCm39)	missense	probably benign	0.01
R1989:Ang	UTSW	14	51,339,008 (GRCm39)	missense	probably damaging	1.00
R2407:Ang	UTSW	14	51,339,103 (GRCm39)	nonsense	probably null
R2860:Ang	UTSW	14	51,339,275 (GRCm39)	missense	probably damaging	1.00
R2861:Ang	UTSW	14	51,339,275 (GRCm39)	missense	probably damaging	1.00
R2862:Ang	UTSW	14	51,339,275 (GRCm39)	missense	probably damaging	1.00
R5807:Ang	UTSW	14	51,338,886 (GRCm39)	intron	probably benign
R7303:Ang	UTSW	14	51,338,973 (GRCm39)	missense	probably benign	0.02
R7322:Ang	UTSW	14	51,338,868 (GRCm39)	missense	unknown
R9334:Ang	UTSW	14	51,339,017 (GRCm39)	missense	possibly damaging	0.80
R9554:Ang	UTSW	14	51,338,976 (GRCm39)	missense	probably damaging	1.00
X0024:Ang	UTSW	14	51,339,032 (GRCm39)	missense	probably benign

Posted On

2013-11-11