Incidental Mutation 'IGL00337:Ing5'
| ID |
7408 |
| 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: 0.320)
|
| Stock # |
IGL00337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93731687-93749823 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
G to T
at 93733816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027503]
[ENSMUST00000027505]
[ENSMUST00000112890]
[ENSMUST00000188402]
[ENSMUST00000190476]
|
| AlphaFold |
Q9D8Y8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027503
|
| SMART Domains |
Protein: ENSMUSP00000027503
Gene: ENSMUSG00000026281
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thymidylate_kin
|
11 |
191 |
6.7e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027505
AA Change: M28I
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000027505
Gene: ENSMUSG00000026283
AA Change: M28I
| 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: ENSMUST00000112890
|
| SMART Domains |
Protein: ENSMUSP00000108511
Gene: ENSMUSG00000026281
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thymidylate_kin
|
11 |
80 |
3.4e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188402
AA Change: M28I
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190476
AA Change: M1I
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140498
Gene: ENSMUSG00000026283
AA Change: M1I
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1ar |
A |
T |
3: 127,614,401 (GRCm39) |
|
probably benign |
Het |
| Ap1ar |
A |
C |
3: 127,614,400 (GRCm39) |
|
probably benign |
Het |
| Apip |
A |
T |
2: 102,922,257 (GRCm39) |
T208S |
probably benign |
Het |
| Arhgap11a |
A |
G |
2: 113,672,287 (GRCm39) |
V227A |
probably damaging |
Het |
| Atrn |
G |
T |
2: 130,799,999 (GRCm39) |
V459F |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,237,368 (GRCm39) |
|
probably null |
Het |
| Cfhr1 |
A |
G |
1: 139,484,253 (GRCm39) |
|
probably benign |
Het |
| D5Ertd615e |
A |
G |
5: 45,320,769 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx29 |
A |
G |
13: 113,101,137 (GRCm39) |
I1227V |
probably benign |
Het |
| Fam98a |
T |
C |
17: 75,858,742 (GRCm39) |
D16G |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,239 (GRCm39) |
D80G |
probably damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,787,600 (GRCm39) |
H354Q |
probably damaging |
Het |
| Ggps1 |
G |
A |
13: 14,228,973 (GRCm39) |
S70L |
probably damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Hpx |
T |
C |
7: 105,240,977 (GRCm39) |
Y432C |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
| Il10rb |
G |
A |
16: 91,203,227 (GRCm39) |
A8T |
probably benign |
Het |
| Kcnc4 |
C |
T |
3: 107,355,189 (GRCm39) |
D420N |
probably benign |
Het |
| Kcnj8 |
T |
C |
6: 142,515,961 (GRCm39) |
N49D |
probably damaging |
Het |
| Kif26b |
C |
A |
1: 178,743,213 (GRCm39) |
A656D |
probably damaging |
Het |
| Klc4 |
T |
C |
17: 46,946,361 (GRCm39) |
E488G |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,502,750 (GRCm39) |
H878Y |
probably benign |
Het |
| Ndufaf7 |
T |
C |
17: 79,254,520 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
T |
G |
7: 106,781,308 (GRCm39) |
D168E |
possibly damaging |
Het |
| Ogdhl |
T |
C |
14: 32,055,669 (GRCm39) |
F251S |
probably damaging |
Het |
| Or1p1 |
T |
C |
11: 74,180,213 (GRCm39) |
V247A |
probably damaging |
Het |
| P2rx5 |
A |
T |
11: 73,058,318 (GRCm39) |
|
probably null |
Het |
| Parp14 |
G |
A |
16: 35,661,445 (GRCm39) |
T1501I |
probably benign |
Het |
| Prl3c1 |
C |
A |
13: 27,384,746 (GRCm39) |
T85K |
probably damaging |
Het |
| Psg27 |
A |
G |
7: 18,295,729 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,493,872 (GRCm39) |
R300G |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,499 (GRCm39) |
S839P |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,317,329 (GRCm39) |
D56V |
probably damaging |
Het |
| Srrt |
C |
T |
5: 137,294,240 (GRCm39) |
|
probably benign |
Het |
| Sstr3 |
T |
A |
15: 78,424,667 (GRCm39) |
T27S |
probably benign |
Het |
| Taf1d |
C |
A |
9: 15,222,899 (GRCm39) |
S255Y |
probably damaging |
Het |
| Tbc1d15 |
C |
A |
10: 115,045,546 (GRCm39) |
E473* |
probably null |
Het |
| Tmem247 |
T |
C |
17: 87,224,963 (GRCm39) |
V24A |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,296,519 (GRCm39) |
C494R |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,784,894 (GRCm39) |
D5G |
probably damaging |
Het |
|
| Other mutations in Ing5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation