Incidental Mutation 'IGL02798:Cbx7'
| ID |
360046 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cbx7
|
| Ensembl Gene |
ENSMUSG00000053411 |
| Gene Name |
chromobox 7 |
| Synonyms |
D15Ertd417e, 1600014J01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
IGL02798
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79800008-79855320 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79802600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 226
(T226A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089293]
[ENSMUST00000109615]
[ENSMUST00000109616]
[ENSMUST00000128931]
[ENSMUST00000132821]
[ENSMUST00000146719]
[ENSMUST00000177098]
[ENSMUST00000177044]
|
| AlphaFold |
Q8VDS3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089293
AA Change: T226A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086708
Gene: ENSMUSG00000053411
AA Change: T226A
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
10 |
62 |
3.12e-18 |
SMART |
|
low complexity region
|
68 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
202 |
N/A |
INTRINSIC |
|
PDB:3GS2|D
|
219 |
248 |
2e-12 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109615
AA Change: T133A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105244
Gene: ENSMUSG00000053411
AA Change: T133A
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
10 |
62 |
3.12e-18 |
SMART |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
109 |
N/A |
INTRINSIC |
|
PDB:3GS2|D
|
126 |
155 |
1e-12 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109616
AA Change: T133A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105245
Gene: ENSMUSG00000053411
AA Change: T133A
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
10 |
62 |
3.12e-18 |
SMART |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
109 |
N/A |
INTRINSIC |
|
PDB:3GS2|D
|
126 |
155 |
1e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128931
|
| SMART Domains |
Protein: ENSMUSP00000118813
Gene: ENSMUSG00000053411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132821
|
| SMART Domains |
Protein: ENSMUSP00000118871
Gene: ENSMUSG00000053411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146719
AA Change: T155A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120748
Gene: ENSMUSG00000053411
AA Change: T155A
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
2 |
84 |
4.03e-12 |
SMART |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
PDB:3GS2|D
|
148 |
177 |
6e-12 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176639
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177098
|
| SMART Domains |
Protein: ENSMUSP00000135079
Gene: ENSMUSG00000009585
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APOBEC_N
|
31 |
209 |
6.8e-37 |
PFAM |
|
Pfam:APOBEC_C
|
147 |
201 |
6e-23 |
PFAM |
|
Pfam:APOBEC_N
|
216 |
386 |
1.2e-27 |
PFAM |
|
Pfam:APOBEC_C
|
325 |
378 |
3.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177044
|
| SMART Domains |
Protein: ENSMUSP00000135246
Gene: ENSMUSG00000053411
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
10 |
56 |
3.71e-2 |
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 protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body length and develop liver and lung adenomas and carcinomas while mutant embryonic fibriblasts show a higher growth rate and reduced susceptibility to senescence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,277,724 (GRCm39) |
C514S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,126,002 (GRCm39) |
I105T |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,292,441 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
A |
G |
7: 100,578,833 (GRCm39) |
V705A |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,184 (GRCm39) |
C253S |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,875,190 (GRCm39) |
I324T |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,720,774 (GRCm39) |
H2608L |
probably damaging |
Het |
| Cramp1 |
A |
G |
17: 25,187,894 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,462,693 (GRCm39) |
C231R |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,563,690 (GRCm39) |
|
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,132,775 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,717,824 (GRCm39) |
P842S |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,102,186 (GRCm39) |
|
probably benign |
Het |
| Lig3 |
T |
C |
11: 82,686,531 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,307,055 (GRCm39) |
T392K |
probably benign |
Het |
| Msl2 |
G |
T |
9: 100,957,430 (GRCm39) |
R33S |
probably benign |
Het |
| Nrde2 |
T |
A |
12: 100,110,081 (GRCm39) |
K317* |
probably null |
Het |
| Nub1 |
C |
A |
5: 24,897,812 (GRCm39) |
A42D |
probably damaging |
Het |
| Obox2 |
T |
C |
7: 15,130,807 (GRCm39) |
V13A |
possibly damaging |
Het |
| Or13p3 |
T |
C |
4: 118,566,696 (GRCm39) |
F31L |
probably damaging |
Het |
| Or4k5 |
T |
A |
14: 50,385,835 (GRCm39) |
K165N |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,478 (GRCm39) |
C127* |
probably null |
Het |
| Phkb |
T |
C |
8: 86,770,406 (GRCm39) |
Y892H |
probably benign |
Het |
| Ptdss1 |
A |
G |
13: 67,124,824 (GRCm39) |
Y341C |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,544,219 (GRCm39) |
D424G |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,370,903 (GRCm39) |
R559Q |
possibly damaging |
Het |
| Sctr |
G |
A |
1: 119,949,910 (GRCm39) |
C33Y |
probably damaging |
Het |
| Sh2b2 |
G |
T |
5: 136,250,817 (GRCm39) |
A419E |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,347,449 (GRCm39) |
M317K |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,499,382 (GRCm39) |
S178G |
probably benign |
Het |
| Slc7a12 |
T |
A |
3: 14,546,217 (GRCm39) |
C121S |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,191,533 (GRCm39) |
S148G |
possibly damaging |
Het |
| Tent5a |
A |
T |
9: 85,206,937 (GRCm39) |
V287E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,963 (GRCm39) |
K507R |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,586,207 (GRCm39) |
K21841N |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,220,346 (GRCm39) |
Y380H |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,340,991 (GRCm39) |
T1840A |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,694,070 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cbx7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Cbx7
|
APN |
15 |
79,814,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Cbx7
|
APN |
15 |
79,807,671 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1372:Cbx7
|
UTSW |
15 |
79,803,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1373:Cbx7
|
UTSW |
15 |
79,803,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Cbx7
|
UTSW |
15 |
79,802,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Cbx7
|
UTSW |
15 |
79,802,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Cbx7
|
UTSW |
15 |
79,803,023 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7803:Cbx7
|
UTSW |
15 |
79,818,024 (GRCm39) |
missense |
unknown |
|
|
R8065:Cbx7
|
UTSW |
15 |
79,818,099 (GRCm39) |
missense |
unknown |
|
|
R8067:Cbx7
|
UTSW |
15 |
79,818,099 (GRCm39) |
missense |
unknown |
|
|
R9525:Cbx7
|
UTSW |
15 |
79,814,797 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Cbx7
|
UTSW |
15 |
79,818,085 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation