Incidental Mutation 'IGL00908:Ing2'
| ID |
27996 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ing2
|
| Ensembl Gene |
ENSMUSG00000063049 |
| Gene Name |
inhibitor of growth family, member 2 |
| Synonyms |
2810011M06Rik, Ing1l, ING2, P33ING2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.375)
|
| Stock # |
IGL00908
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
48120213-48128591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48122296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 84
(Q84R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080353]
|
| AlphaFold |
Q9ESK4 |
| PDB Structure |
Solution structure of PHD domain in inhibitor of growth family, member 1-like [SOLUTION NMR]
Crystal structure of ING2 PHD finger in complex with H3K4Me3 peptide [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080353
AA Change: Q84R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079226
Gene: ENSMUSG00000063049
AA Change: Q84R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
28 |
126 |
2e-26 |
PFAM |
|
low complexity region
|
143 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
201 |
N/A |
INTRINSIC |
|
PHD
|
215 |
260 |
5.1e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125536
|
| SMART Domains |
Protein: ENSMUSP00000124792
Gene: ENSMUSG00000063049
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
94 |
N/A |
INTRINSIC |
|
Pfam:PHD
|
108 |
145 |
1.8e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146625
|
| SMART Domains |
Protein: ENSMUSP00000124454
Gene: ENSMUSG00000063049
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
94 |
N/A |
INTRINSIC |
|
PHD
|
108 |
153 |
7.99e-13 |
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 is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous inactivation of this gene causes impaired spermatogenesis and male infertility associated with teratozoospermia, seminiferous tubule degeneration, germ cell depletion, arrest of male meiosis and enhanced testicular apoptosis, and leads to an increased incidence of soft tissue sarcomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap3 |
G |
T |
15: 83,206,790 (GRCm39) |
P266Q |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,548,918 (GRCm39) |
D61E |
probably benign |
Het |
| Cad |
T |
C |
5: 31,216,398 (GRCm39) |
I190T |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,723,508 (GRCm39) |
T558I |
probably damaging |
Het |
| Dmkn |
G |
A |
7: 30,477,695 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,422,649 (GRCm39) |
V72E |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,890,870 (GRCm39) |
D803G |
probably benign |
Het |
| Il2rg |
A |
T |
X: 100,308,454 (GRCm39) |
|
probably benign |
Het |
| Kdm6a |
T |
C |
X: 18,102,905 (GRCm39) |
F211L |
possibly damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,745,821 (GRCm39) |
D105G |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,900,447 (GRCm39) |
I68T |
probably benign |
Het |
| Magi2 |
T |
A |
5: 20,596,299 (GRCm39) |
D415E |
probably benign |
Het |
| Mospd2 |
C |
T |
X: 163,745,121 (GRCm39) |
R135Q |
probably damaging |
Het |
| Mysm1 |
T |
C |
4: 94,847,172 (GRCm39) |
D508G |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,297,157 (GRCm39) |
I960V |
probably benign |
Het |
| Ncald |
C |
A |
15: 37,372,451 (GRCm39) |
M131I |
possibly damaging |
Het |
| Nup188 |
T |
C |
2: 30,223,412 (GRCm39) |
S1096P |
probably damaging |
Het |
| Plekha5 |
G |
A |
6: 140,496,656 (GRCm39) |
E69K |
probably damaging |
Het |
| Ppp1cb |
C |
T |
5: 32,635,412 (GRCm39) |
R19* |
probably null |
Het |
| Rasl11b |
G |
A |
5: 74,356,772 (GRCm39) |
V50I |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,782,579 (GRCm39) |
R319K |
probably damaging |
Het |
| Trip4 |
T |
C |
9: 65,782,216 (GRCm39) |
D172G |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,963,106 (GRCm39) |
R752C |
probably damaging |
Het |
|
| Other mutations in Ing2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01791:Ing2
|
APN |
8 |
48,122,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02477:Ing2
|
APN |
8 |
48,122,303 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4418001:Ing2
|
UTSW |
8 |
48,122,125 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0315:Ing2
|
UTSW |
8 |
48,122,125 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1793:Ing2
|
UTSW |
8 |
48,122,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Ing2
|
UTSW |
8 |
48,122,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5759:Ing2
|
UTSW |
8 |
48,122,040 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5821:Ing2
|
UTSW |
8 |
48,121,861 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6222:Ing2
|
UTSW |
8 |
48,121,966 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6378:Ing2
|
UTSW |
8 |
48,122,293 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7031:Ing2
|
UTSW |
8 |
48,121,858 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7243:Ing2
|
UTSW |
8 |
48,127,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7819:Ing2
|
UTSW |
8 |
48,122,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9080:Ing2
|
UTSW |
8 |
48,121,808 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9386:Ing2
|
UTSW |
8 |
48,127,561 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9757:Ing2
|
UTSW |
8 |
48,128,075 (GRCm39) |
start gained |
probably benign |
|
|
X0036:Ing2
|
UTSW |
8 |
48,127,542 (GRCm39) |
missense |
probably null |
0.94 |
|
| Posted On |
2013-04-17 |
Incidental Mutation