Incidental Mutation 'IGL02067:Ing5'
| ID |
185689 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ing5
|
| Ensembl Gene |
ENSMUSG00000026283 |
| Gene Name |
inhibitor of growth family, member 5 |
| Synonyms |
1810018M11Rik, 1700027H23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
IGL02067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93731687-93749823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93739648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 58
(L58Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027505]
[ENSMUST00000188402]
[ENSMUST00000190476]
|
| AlphaFold |
Q9D8Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027505
AA Change: L85Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027505
Gene: ENSMUSG00000026283
AA Change: L85Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000158336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188402
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190476
AA Change: L58Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140498
Gene: ENSMUSG00000026283
AA Change: L58Q
| 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 |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
C |
T |
5: 107,691,816 (GRCm39) |
R36* |
probably null |
Het |
| Aplp2 |
T |
A |
9: 31,062,191 (GRCm39) |
K688N |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,213,825 (GRCm39) |
Q13K |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Chrna6 |
A |
G |
8: 27,894,424 (GRCm39) |
S494P |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,576,037 (GRCm39) |
L195H |
probably damaging |
Het |
| Coq3 |
A |
G |
4: 21,900,397 (GRCm39) |
E208G |
probably benign |
Het |
| Dock4 |
T |
G |
12: 40,884,384 (GRCm39) |
S1684A |
probably damaging |
Het |
| Duoxa2 |
G |
A |
2: 122,131,072 (GRCm39) |
V78M |
possibly damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Fam8a1 |
G |
T |
13: 46,823,324 (GRCm39) |
R88L |
possibly damaging |
Het |
| Ganc |
A |
G |
2: 120,236,785 (GRCm39) |
D23G |
probably benign |
Het |
| Gm14305 |
A |
T |
2: 176,411,110 (GRCm39) |
E53D |
probably damaging |
Het |
| Klrb1-ps1 |
A |
G |
6: 129,106,351 (GRCm39) |
D164G |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,052,792 (GRCm39) |
T1389M |
probably benign |
Het |
| Lrp6 |
A |
T |
6: 134,457,359 (GRCm39) |
I815K |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,861,639 (GRCm38) |
D565G |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,435,473 (GRCm39) |
E641G |
probably damaging |
Het |
| Rbm44 |
T |
C |
1: 91,080,567 (GRCm39) |
S252P |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,173,247 (GRCm39) |
V1810A |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,373,095 (GRCm39) |
V754A |
probably benign |
Het |
| Slc27a6 |
A |
G |
18: 58,745,263 (GRCm39) |
T566A |
probably benign |
Het |
| Stxbp6 |
C |
T |
12: 44,908,081 (GRCm39) |
R179Q |
probably damaging |
Het |
| Supt6 |
T |
A |
11: 78,121,983 (GRCm39) |
Y223F |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,939,100 (GRCm39) |
I649M |
probably damaging |
Het |
| Tecrl |
A |
T |
5: 83,432,122 (GRCm39) |
C258S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,618,977 (GRCm39) |
I74T |
possibly damaging |
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 |
|
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 |
|
R2903:Ing5
|
UTSW |
1 |
93,731,710 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation