Incidental Mutation 'R2407:Ang'
| ID |
248072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ang
|
| Ensembl Gene |
ENSMUSG00000072115 |
| Gene Name |
angiogenin, ribonuclease, RNase A family, 5 |
| Synonyms |
Rnase5a, Ang1 |
| MMRRC Submission |
040373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R2407 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51328607-51339462 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 51339103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 81
(C81*)
|
| 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: C81*
|
| SMART Domains |
Protein: ENSMUSP00000067434
Gene: ENSMUSG00000072115
AA Change: C81*
| 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: C81*
|
| SMART Domains |
Protein: ENSMUSP00000132084
Gene: ENSMUSG00000072115
AA Change: C81*
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
T |
6: 65,930,212 (GRCm39) |
N149I |
probably benign |
Het |
| Agxt |
G |
T |
1: 93,063,502 (GRCm39) |
A135S |
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,159,880 (GRCm39) |
I40F |
probably damaging |
Het |
| Apc |
G |
T |
18: 34,447,315 (GRCm39) |
V1370F |
possibly damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,553,614 (GRCm39) |
T127A |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,489 (GRCm39) |
L168P |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,428,032 (GRCm39) |
M510L |
probably benign |
Het |
| Epb42 |
C |
A |
2: 120,855,233 (GRCm39) |
V451F |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,039,441 (GRCm39) |
L2017Q |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,225,424 (GRCm39) |
|
probably null |
Het |
| Kif13a |
G |
A |
13: 46,930,573 (GRCm39) |
P164S |
probably damaging |
Het |
| Kirrel1 |
T |
A |
3: 86,992,150 (GRCm39) |
I593F |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,257,183 (GRCm39) |
I265N |
possibly damaging |
Het |
| Mctp2 |
A |
T |
7: 71,850,155 (GRCm39) |
D507E |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,641,215 (GRCm39) |
|
probably null |
Het |
| Myo3b |
T |
C |
2: 70,085,597 (GRCm39) |
Y750H |
probably damaging |
Het |
| Nrp1 |
T |
C |
8: 129,158,426 (GRCm39) |
S238P |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,890,964 (GRCm39) |
E41G |
probably benign |
Het |
| Pclo |
G |
T |
5: 14,728,946 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,373,247 (GRCm39) |
D2296G |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,166,510 (GRCm39) |
C473R |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,508,502 (GRCm39) |
M808K |
probably damaging |
Het |
| Sec24b |
A |
C |
3: 129,795,965 (GRCm39) |
S651A |
probably benign |
Het |
| Slc17a3 |
G |
A |
13: 24,036,418 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
A |
G |
2: 62,143,687 (GRCm39) |
H1074R |
probably benign |
Het |
| Spata31d1b |
A |
G |
13: 59,864,660 (GRCm39) |
K603E |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,721,919 (GRCm39) |
M1087K |
possibly damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,117,523 (GRCm39) |
K409* |
probably null |
Het |
| Tacc2 |
G |
A |
7: 130,223,770 (GRCm39) |
V152I |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,527,536 (GRCm39) |
M65V |
probably benign |
Het |
| Tmem131l |
G |
T |
3: 83,829,355 (GRCm39) |
Q1100K |
probably benign |
Het |
| Togaram1 |
T |
C |
12: 65,014,444 (GRCm39) |
M565T |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,449 (GRCm39) |
Y340H |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,893,794 (GRCm39) |
M643L |
probably benign |
Het |
| Zfp51 |
A |
T |
17: 21,684,093 (GRCm39) |
H236L |
probably damaging |
Het |
|
| Other mutations in Ang |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Ang
|
APN |
14 |
51,339,124 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCCCGTTGTTCTTGATC -3'
(R):5'- AAGTGGACAGGCAAACCATTC -3'
Sequencing Primer
(F):5'- CCACTCTGGCTCAGGATGACTC -3'
(R):5'- TCTCACAGGCAATAACAACATGTCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation