Incidental Mutation 'IGL02744:Ing5'
ID |
305998 |
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 # |
IGL02744
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
93731687-93749823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93744210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 172
(M172T)
|
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: M199T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027505 Gene: ENSMUSG00000026283 AA Change: M199T
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 |
probably damaging
Transcript: ENSMUST00000190476
AA Change: M172T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140498 Gene: ENSMUSG00000026283 AA Change: M172T
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930564D02Rik |
A |
G |
3: 104,985,852 (GRCm39) |
M89V |
unknown |
Het |
Actl11 |
C |
A |
9: 107,807,061 (GRCm39) |
H461Q |
probably benign |
Het |
Aoc1l1 |
A |
G |
6: 48,952,249 (GRCm39) |
E58G |
probably benign |
Het |
Aox4 |
A |
T |
1: 58,294,711 (GRCm39) |
R973S |
possibly damaging |
Het |
Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,807,279 (GRCm39) |
S713T |
probably damaging |
Het |
Epha5 |
T |
C |
5: 84,255,848 (GRCm39) |
I458V |
probably benign |
Het |
Galnt17 |
A |
G |
5: 131,140,613 (GRCm39) |
I168T |
probably damaging |
Het |
Gli3 |
T |
C |
13: 15,788,471 (GRCm39) |
|
probably null |
Het |
Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
Gm8206 |
T |
C |
14: 6,022,488 (GRCm38) |
I4V |
possibly damaging |
Het |
Golga1 |
A |
G |
2: 38,908,486 (GRCm39) |
S713P |
probably damaging |
Het |
Lyn |
A |
G |
4: 3,738,808 (GRCm39) |
T27A |
probably benign |
Het |
Or2b28 |
A |
G |
13: 21,531,164 (GRCm39) |
Y22C |
probably damaging |
Het |
Pou5f1 |
T |
C |
17: 35,820,311 (GRCm39) |
V40A |
probably damaging |
Het |
Pramel13 |
A |
T |
4: 144,119,493 (GRCm39) |
L358Q |
probably damaging |
Het |
Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
Psg18 |
T |
A |
7: 18,083,327 (GRCm39) |
Q276L |
probably benign |
Het |
Ralgapb |
A |
C |
2: 158,288,071 (GRCm39) |
Q369H |
probably damaging |
Het |
Slc44a4 |
A |
G |
17: 35,146,776 (GRCm39) |
N300D |
probably damaging |
Het |
Slc6a15 |
A |
T |
10: 103,253,894 (GRCm39) |
E610V |
probably benign |
Het |
Slc8a2 |
T |
C |
7: 15,878,954 (GRCm39) |
V480A |
possibly damaging |
Het |
Speer1j |
C |
T |
5: 11,555,340 (GRCm39) |
T103I |
possibly damaging |
Het |
Spg7 |
T |
C |
8: 123,820,400 (GRCm39) |
F617S |
probably damaging |
Het |
Srcap |
A |
G |
7: 127,133,838 (GRCm39) |
D863G |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Suox |
T |
C |
10: 128,507,086 (GRCm39) |
E314G |
probably benign |
Het |
Tln2 |
T |
A |
9: 67,136,658 (GRCm39) |
K1276* |
probably null |
Het |
Tmem72 |
A |
G |
6: 116,672,451 (GRCm39) |
L130P |
probably damaging |
Het |
Ttll1 |
T |
C |
15: 83,373,778 (GRCm39) |
Y345C |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,090,914 (GRCm39) |
|
probably null |
Het |
Xpo6 |
G |
A |
7: 125,707,620 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
A |
T |
12: 98,751,234 (GRCm39) |
Y512F |
possibly damaging |
Het |
Zfp438 |
A |
T |
18: 5,214,760 (GRCm39) |
M66K |
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 |
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 |