Incidental Mutation 'IGL01461:Ing1'
| ID |
87989 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ing1
|
| Ensembl Gene |
ENSMUSG00000045969 |
| Gene Name |
inhibitor of growth family, member 1 |
| Synonyms |
mING1h, 2610028J21Rik, p33Ing1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
IGL01461
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
11605762-11613251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 11611453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 22
(F22V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054399]
[ENSMUST00000209565]
[ENSMUST00000209646]
[ENSMUST00000210041]
[ENSMUST00000210670]
[ENSMUST00000210740]
[ENSMUST00000211007]
|
| AlphaFold |
Q9QXV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054399
AA Change: F58V
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000062593
Gene: ENSMUSG00000045969
AA Change: F58V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
15 |
113 |
1.4e-33 |
PFAM |
|
low complexity region
|
146 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
199 |
N/A |
INTRINSIC |
|
PHD
|
212 |
257 |
2.23e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209646
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210670
AA Change: F22V
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211007
|
| 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 can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display a slight decrease in body weight, moderately impaired maternal nurturing, increased sensitivity to gamma-irradiation, and increased incidence of B-cell derived lymphomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,429,214 (GRCm39) |
F767S |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,884 (GRCm39) |
M1137L |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,099,717 (GRCm39) |
Q445* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,244,926 (GRCm39) |
T990A |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,293 (GRCm39) |
L1513S |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,142,480 (GRCm39) |
K56R |
probably damaging |
Het |
| Cryaa |
A |
G |
17: 31,900,000 (GRCm39) |
Y118C |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,278,729 (GRCm39) |
T378A |
possibly damaging |
Het |
| E330020D12Rik |
A |
G |
1: 153,284,105 (GRCm39) |
|
noncoding transcript |
Het |
| F7 |
A |
G |
8: 13,082,245 (GRCm39) |
D145G |
possibly damaging |
Het |
| Flvcr2 |
A |
G |
12: 85,849,905 (GRCm39) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,154,103 (GRCm39) |
K680* |
probably null |
Het |
| Ipo5 |
A |
G |
14: 121,165,945 (GRCm39) |
D330G |
probably damaging |
Het |
| Itgax |
G |
T |
7: 127,734,190 (GRCm39) |
D321Y |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,678,845 (GRCm39) |
|
probably null |
Het |
| Marchf10 |
T |
C |
11: 105,280,431 (GRCm39) |
K618R |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,890,576 (GRCm39) |
M925L |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 152,040,934 (GRCm39) |
E78K |
probably damaging |
Het |
| Or4c106 |
G |
T |
2: 88,682,669 (GRCm39) |
C125F |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,695,245 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
T |
C |
15: 85,704,575 (GRCm39) |
I454V |
possibly damaging |
Het |
| Poglut2 |
T |
C |
1: 44,150,094 (GRCm39) |
Q365R |
probably damaging |
Het |
| Prpf6 |
C |
A |
2: 181,273,304 (GRCm39) |
T283N |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,106,643 (GRCm39) |
H197R |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,233,013 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
A |
C |
16: 17,439,370 (GRCm39) |
Q7P |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,094 (GRCm39) |
I248K |
possibly damaging |
Het |
|
| Other mutations in Ing1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
F5770:Ing1
|
UTSW |
8 |
11,611,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Ing1
|
UTSW |
8 |
11,611,933 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0546:Ing1
|
UTSW |
8 |
11,607,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Ing1
|
UTSW |
8 |
11,611,502 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1295:Ing1
|
UTSW |
8 |
11,611,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1433:Ing1
|
UTSW |
8 |
11,607,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1914:Ing1
|
UTSW |
8 |
11,611,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2964:Ing1
|
UTSW |
8 |
11,611,641 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2965:Ing1
|
UTSW |
8 |
11,611,641 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4559:Ing1
|
UTSW |
8 |
11,612,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6884:Ing1
|
UTSW |
8 |
11,611,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Ing1
|
UTSW |
8 |
11,611,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7778:Ing1
|
UTSW |
8 |
11,611,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7824:Ing1
|
UTSW |
8 |
11,611,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9537:Ing1
|
UTSW |
8 |
11,611,889 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9731:Ing1
|
UTSW |
8 |
11,611,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7583:Ing1
|
UTSW |
8 |
11,611,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation