Incidental Mutation 'IGL02699:Ing5'
| ID |
304056 |
| 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 # |
IGL02699
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93731687-93749823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93744164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 157
(N157D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027505]
[ENSMUST00000188402]
[ENSMUST00000190476]
|
| AlphaFold |
Q9D8Y8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027505
AA Change: N184D
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027505
Gene: ENSMUSG00000026283
AA Change: N184D
| 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: ENSMUST00000188402
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190476
AA Change: N157D
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140498
Gene: ENSMUSG00000026283
AA Change: N157D
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,157,853 (GRCm39) |
D198G |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,047,263 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
A |
9: 78,579,271 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
T |
G |
4: 47,284,471 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,493,400 (GRCm39) |
D365G |
probably benign |
Het |
| Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
| Dalrd3 |
T |
A |
9: 108,448,088 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
T |
C |
5: 139,139,105 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 57,043,223 (GRCm39) |
T236A |
possibly damaging |
Het |
| Ighv1-12 |
C |
A |
12: 114,579,736 (GRCm39) |
E29* |
probably null |
Het |
| Il17re |
A |
G |
6: 113,445,880 (GRCm39) |
D397G |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 107,025,905 (GRCm39) |
E395G |
possibly damaging |
Het |
| Letm1 |
T |
C |
5: 33,902,492 (GRCm39) |
E599G |
possibly damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,317 (GRCm39) |
T287A |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,070,851 (GRCm39) |
N131D |
possibly damaging |
Het |
| Or10ak13 |
G |
T |
4: 118,639,349 (GRCm39) |
C144* |
probably null |
Het |
| Or13p3 |
T |
C |
4: 118,567,395 (GRCm39) |
S264P |
probably benign |
Het |
| Or6c2b |
T |
G |
10: 128,947,640 (GRCm39) |
Y218S |
probably benign |
Het |
| Or8k38 |
A |
T |
2: 86,488,691 (GRCm39) |
I37N |
probably benign |
Het |
| Osm |
T |
C |
11: 4,189,723 (GRCm39) |
V169A |
possibly damaging |
Het |
| Phkg2 |
C |
T |
7: 127,181,722 (GRCm39) |
A278V |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,489,195 (GRCm39) |
M709K |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,464,364 (GRCm39) |
|
probably null |
Het |
| Ric1 |
T |
C |
19: 29,499,957 (GRCm39) |
L12P |
possibly damaging |
Het |
| Skor1 |
C |
A |
9: 63,047,328 (GRCm39) |
|
probably benign |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Syncrip |
A |
G |
9: 88,338,607 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,459,259 (GRCm39) |
E57G |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,809,714 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
T |
C |
4: 107,049,735 (GRCm39) |
M140T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,774,433 (GRCm39) |
T2158A |
probably 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 |
|
IGL02067:Ing5
|
APN |
1 |
93,739,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation