Incidental Mutation 'R2903:Ing5'
| ID |
261539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ing5
|
| Ensembl Gene |
ENSMUSG00000026283 |
| Gene Name |
inhibitor of growth family, member 5 |
| Synonyms |
1810018M11Rik, 1700027H23Rik |
| MMRRC Submission |
040490-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R2903 (G1)
|
| Quality Score |
95 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93731687-93749823 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 93731710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027503]
[ENSMUST00000027505]
[ENSMUST00000112890]
[ENSMUST00000112893]
[ENSMUST00000188402]
[ENSMUST00000190476]
|
| AlphaFold |
Q9D8Y8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027503
|
| SMART Domains |
Protein: ENSMUSP00000027503
Gene: ENSMUSG00000026281
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thymidylate_kin
|
11 |
191 |
6.7e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027505
|
| SMART Domains |
Protein: ENSMUSP00000027505
Gene: ENSMUSG00000026283
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
6 |
107 |
1.6e-34 |
PFAM |
|
low complexity region
|
129 |
150 |
N/A |
INTRINSIC |
|
PHD
|
188 |
233 |
7.34e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112890
|
| SMART Domains |
Protein: ENSMUSP00000108511
Gene: ENSMUSG00000026281
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thymidylate_kin
|
11 |
80 |
3.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112893
|
| SMART Domains |
Protein: ENSMUSP00000108514
Gene: ENSMUSG00000026281
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thymidylate_kin
|
16 |
133 |
1.9e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190476
|
| SMART Domains |
Protein: ENSMUSP00000140498
Gene: ENSMUSG00000026283
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
1 |
80 |
2.4e-18 |
PFAM |
|
low complexity region
|
102 |
123 |
N/A |
INTRINSIC |
|
PHD
|
161 |
206 |
4.7e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230112D13Rik |
A |
T |
14: 34,233,898 (GRCm39) |
V131E |
unknown |
Het |
| Ccnk |
T |
C |
12: 108,168,647 (GRCm39) |
|
probably benign |
Het |
| Cd276 |
A |
G |
9: 58,444,603 (GRCm39) |
F123L |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,825,730 (GRCm39) |
N290I |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,828,622 (GRCm39) |
V937A |
possibly damaging |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gpt |
A |
G |
15: 76,582,666 (GRCm39) |
D37G |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,564,437 (GRCm39) |
L473Q |
probably damaging |
Het |
| Hsp90b1 |
A |
C |
10: 86,539,349 (GRCm39) |
I90S |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,127,069 (GRCm39) |
Y307C |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,598,661 (GRCm39) |
M320L |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,677,854 (GRCm39) |
K161R |
probably damaging |
Het |
| Rassf10 |
A |
T |
7: 112,553,756 (GRCm39) |
D119V |
possibly damaging |
Het |
| Samhd1 |
A |
T |
2: 156,965,335 (GRCm39) |
F160Y |
possibly damaging |
Het |
| Sh3bp2 |
T |
A |
5: 34,700,900 (GRCm39) |
C34* |
probably null |
Het |
| Six3 |
A |
G |
17: 85,931,283 (GRCm39) |
E313G |
probably damaging |
Het |
| Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,864,378 (GRCm39) |
L591P |
probably damaging |
Het |
| Trav17 |
A |
C |
14: 54,044,123 (GRCm39) |
S10R |
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,384,284 (GRCm39) |
F534S |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,211,147 (GRCm39) |
V890E |
probably damaging |
Het |
| Uso1 |
G |
A |
5: 92,343,294 (GRCm39) |
|
probably null |
Het |
| Utrn |
A |
G |
10: 12,519,172 (GRCm39) |
I2260T |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,613,187 (GRCm39) |
N620D |
probably benign |
Het |
|
| Other mutations in Ing5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Ing5
|
APN |
1 |
93,733,816 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
IGL02067:Ing5
|
APN |
1 |
93,739,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02699:Ing5
|
APN |
1 |
93,744,164 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02744:Ing5
|
APN |
1 |
93,744,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Albion
|
UTSW |
1 |
93,744,166 (GRCm39) |
missense |
probably damaging |
0.97 |
|
cordelia
|
UTSW |
1 |
93,740,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dover
|
UTSW |
1 |
93,740,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4458001:Ing5
|
UTSW |
1 |
93,739,668 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0372:Ing5
|
UTSW |
1 |
93,740,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3742:Ing5
|
UTSW |
1 |
93,740,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5713:Ing5
|
UTSW |
1 |
93,740,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7514:Ing5
|
UTSW |
1 |
93,744,164 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7643:Ing5
|
UTSW |
1 |
93,740,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8104:Ing5
|
UTSW |
1 |
93,744,166 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8783:Ing5
|
UTSW |
1 |
93,740,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Ing5
|
UTSW |
1 |
93,740,409 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9231:Ing5
|
UTSW |
1 |
93,739,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTCCACATTGCAAACTG -3'
(R):5'- CACAGTCCCCATGATCAGTC -3'
Sequencing Primer
(F):5'- TTCCCTCAGGGCAAGCC -3'
(R):5'- GTCCCCATGATCAGTCCCCATC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation