Incidental Mutation 'R5774:Ing3'
| ID |
445553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ing3
|
| Ensembl Gene |
ENSMUSG00000029670 |
| Gene Name |
inhibitor of growth family, member 3 |
| Synonyms |
P47ING3, 1300013A07Rik |
| MMRRC Submission |
043373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R5774 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
21949570-21976037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21967688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 119
(P119S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031680]
[ENSMUST00000115389]
[ENSMUST00000136200]
[ENSMUST00000149728]
[ENSMUST00000151473]
[ENSMUST00000152877]
|
| AlphaFold |
Q8VEK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031680
AA Change: P143S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031680
Gene: ENSMUSG00000029670
AA Change: P143S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
3 |
104 |
2.7e-31 |
PFAM |
|
low complexity region
|
214 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
345 |
N/A |
INTRINSIC |
|
PHD
|
365 |
410 |
4e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115389
AA Change: P143S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111047
Gene: ENSMUSG00000029670
AA Change: P143S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
2 |
104 |
1.5e-33 |
PFAM |
|
low complexity region
|
203 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
334 |
N/A |
INTRINSIC |
|
PHD
|
354 |
399 |
6.39e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136161
AA Change: S131F
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136200
|
| SMART Domains |
Protein: ENSMUSP00000138656
Gene: ENSMUSG00000029670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
2 |
41 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149728
|
| SMART Domains |
Protein: ENSMUSP00000145391
Gene: ENSMUSG00000029670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
1 |
89 |
6.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151473
AA Change: P119S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120651
Gene: ENSMUSG00000029670
AA Change: P119S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
2 |
80 |
1.9e-19 |
PFAM |
|
low complexity region
|
190 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152877
|
| SMART Domains |
Protein: ENSMUSP00000138244
Gene: ENSMUSG00000029670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ING
|
2 |
89 |
1.5e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,581,668 (GRCm39) |
L62M |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,574,285 (GRCm39) |
T949I |
probably damaging |
Het |
| Adam4 |
C |
T |
12: 81,467,460 (GRCm39) |
S387N |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,748,407 (GRCm39) |
S1327G |
probably damaging |
Het |
| Arhgap1 |
A |
G |
2: 91,484,453 (GRCm39) |
T12A |
possibly damaging |
Het |
| Arhgap28 |
A |
G |
17: 68,188,487 (GRCm39) |
S228P |
possibly damaging |
Het |
| Atp6v1b2 |
A |
T |
8: 69,554,613 (GRCm39) |
D106V |
probably damaging |
Het |
| Atp9b |
T |
G |
18: 80,977,147 (GRCm39) |
D3A |
probably damaging |
Het |
| Bptf |
A |
G |
11: 107,001,963 (GRCm39) |
F383S |
probably damaging |
Het |
| Cdh24 |
T |
C |
14: 54,876,514 (GRCm39) |
T104A |
probably damaging |
Het |
| Cep55 |
A |
G |
19: 38,051,103 (GRCm39) |
E171G |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,052,873 (GRCm39) |
M1126K |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,716,184 (GRCm39) |
I59N |
probably damaging |
Het |
| Ddx52 |
A |
G |
11: 83,836,960 (GRCm39) |
I150M |
probably damaging |
Het |
| Dennd6a |
T |
C |
14: 26,300,974 (GRCm39) |
V62A |
probably benign |
Het |
| Dpep1 |
C |
A |
8: 123,926,721 (GRCm39) |
D211E |
probably damaging |
Het |
| Gm1527 |
T |
C |
3: 28,972,239 (GRCm39) |
V452A |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,299,147 (GRCm39) |
V2831A |
possibly damaging |
Het |
| Hrob |
T |
A |
11: 102,146,495 (GRCm39) |
I257N |
possibly damaging |
Het |
| Hydin |
G |
T |
8: 111,298,547 (GRCm39) |
E3722* |
probably null |
Het |
| Il17a |
A |
G |
1: 20,803,997 (GRCm39) |
S131G |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
| Lca5l |
G |
T |
16: 95,977,261 (GRCm39) |
Q177K |
probably benign |
Het |
| Lrrc61 |
C |
T |
6: 48,545,133 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,018,106 (GRCm39) |
Y188C |
probably damaging |
Het |
| Mdk |
T |
C |
2: 91,761,569 (GRCm39) |
E36G |
probably damaging |
Het |
| Mmp12 |
T |
C |
9: 7,354,823 (GRCm39) |
I272T |
possibly damaging |
Het |
| Myh4 |
A |
T |
11: 67,144,034 (GRCm39) |
K1135* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,191,060 (GRCm39) |
Y96N |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,384,351 (GRCm39) |
V39E |
possibly damaging |
Het |
| Pank4 |
G |
A |
4: 155,065,119 (GRCm39) |
G806D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,780 (GRCm39) |
Y396C |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,738 (GRCm39) |
I472N |
probably damaging |
Het |
| Sema3a |
T |
A |
5: 13,573,131 (GRCm39) |
W220R |
probably damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,124 (GRCm39) |
V309A |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,721,981 (GRCm39) |
M394V |
probably damaging |
Het |
| Specc1l |
G |
A |
10: 75,081,234 (GRCm39) |
R210H |
probably damaging |
Het |
| Spocd1 |
T |
A |
4: 129,845,579 (GRCm39) |
S480T |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 119,880,939 (GRCm39) |
|
noncoding transcript |
Het |
| Srrm2 |
A |
G |
17: 24,037,249 (GRCm39) |
|
probably benign |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,698 (GRCm39) |
K779E |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,220,294 (GRCm39) |
F2344I |
probably damaging |
Het |
| Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
| Ube4a |
G |
A |
9: 44,864,395 (GRCm39) |
P66L |
probably damaging |
Het |
| Utp6 |
A |
T |
11: 79,844,424 (GRCm39) |
F200L |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,176 (GRCm39) |
H410Q |
probably damaging |
Het |
| Vps33b |
C |
T |
7: 79,935,088 (GRCm39) |
H344Y |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,552,772 (GRCm39) |
R1145* |
probably null |
Het |
| Zbed4 |
T |
A |
15: 88,665,852 (GRCm39) |
F640Y |
possibly damaging |
Het |
| Zfp618 |
C |
T |
4: 63,050,799 (GRCm39) |
R527C |
probably damaging |
Het |
|
| Other mutations in Ing3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01721:Ing3
|
APN |
6 |
21,968,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL02330:Ing3
|
APN |
6 |
21,952,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02668:Ing3
|
APN |
6 |
21,950,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02897:Ing3
|
APN |
6 |
21,969,325 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03065:Ing3
|
APN |
6 |
21,971,221 (GRCm39) |
missense |
probably benign |
|
|
R0076:Ing3
|
UTSW |
6 |
21,952,170 (GRCm39) |
missense |
probably benign |
|
|
R0513:Ing3
|
UTSW |
6 |
21,970,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0711:Ing3
|
UTSW |
6 |
21,971,236 (GRCm39) |
nonsense |
probably null |
|
|
R2369:Ing3
|
UTSW |
6 |
21,950,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4660:Ing3
|
UTSW |
6 |
21,973,710 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4672:Ing3
|
UTSW |
6 |
21,965,729 (GRCm39) |
splice site |
probably null |
|
|
R5557:Ing3
|
UTSW |
6 |
21,968,908 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5682:Ing3
|
UTSW |
6 |
21,968,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5773:Ing3
|
UTSW |
6 |
21,971,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Ing3
|
UTSW |
6 |
21,968,904 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5976:Ing3
|
UTSW |
6 |
21,971,173 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6265:Ing3
|
UTSW |
6 |
21,953,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7239:Ing3
|
UTSW |
6 |
21,952,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7526:Ing3
|
UTSW |
6 |
21,953,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Ing3
|
UTSW |
6 |
21,952,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGGTTGGCAGTCATATGT -3'
(R):5'- GAAAAGTCTACACGTAAACTGTGAT -3'
Sequencing Primer
(F):5'- CAGTCATATGTGAGGGCCATC -3'
(R):5'- CTTCCCAATGATGGCTGACTAGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation