Incidental Mutation 'R0009:Hp1bp3'
| ID |
8156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hp1bp3
|
| Ensembl Gene |
ENSMUSG00000028759 |
| Gene Name |
heterochromatin protein 1, binding protein 3 |
| Synonyms |
Hp1bp74 |
| MMRRC Submission |
038304-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R0009 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137943607-137971994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137948994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 19
(I19K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030541]
[ENSMUST00000097836]
[ENSMUST00000105825]
[ENSMUST00000105826]
[ENSMUST00000105827]
[ENSMUST00000124305]
[ENSMUST00000130071]
[ENSMUST00000137865]
[ENSMUST00000165861]
[ENSMUST00000137851]
|
| AlphaFold |
Q3TEA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030541
AA Change: I19K
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: I19K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
133 |
N/A |
INTRINSIC |
|
H15
|
157 |
224 |
2.82e-18 |
SMART |
|
H15
|
253 |
320 |
7.29e-12 |
SMART |
|
H15
|
335 |
403 |
1.78e-15 |
SMART |
|
low complexity region
|
427 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097836
|
| SMART Domains |
Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
95 |
N/A |
INTRINSIC |
|
H15
|
119 |
186 |
2.82e-18 |
SMART |
|
H15
|
215 |
282 |
7.29e-12 |
SMART |
|
H15
|
297 |
365 |
1.78e-15 |
SMART |
|
low complexity region
|
389 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105825
|
| SMART Domains |
Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
95 |
N/A |
INTRINSIC |
|
H15
|
119 |
186 |
1.3e-17 |
SMART |
|
H15
|
215 |
282 |
7.29e-12 |
SMART |
|
H15
|
297 |
365 |
1.78e-15 |
SMART |
|
low complexity region
|
389 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105826
AA Change: I19K
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: I19K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
133 |
N/A |
INTRINSIC |
|
H15
|
157 |
224 |
1.3e-17 |
SMART |
|
H15
|
253 |
320 |
7.29e-12 |
SMART |
|
H15
|
335 |
403 |
1.78e-15 |
SMART |
|
low complexity region
|
427 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105827
AA Change: I19K
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: I19K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
133 |
N/A |
INTRINSIC |
|
H15
|
157 |
224 |
1.3e-17 |
SMART |
|
H15
|
253 |
320 |
7.29e-12 |
SMART |
|
H15
|
335 |
403 |
1.78e-15 |
SMART |
|
low complexity region
|
427 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124305
|
| SMART Domains |
Protein: ENSMUSP00000120587
Gene: ENSMUSG00000028759
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
82 |
N/A |
INTRINSIC |
|
H15
|
106 |
165 |
2.94e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130071
AA Change: I19K
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137865
AA Change: I19K
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117216
Gene: ENSMUSG00000028759
AA Change: I19K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165861
AA Change: I19K
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: I19K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
133 |
N/A |
INTRINSIC |
|
H15
|
157 |
224 |
2.82e-18 |
SMART |
|
H15
|
253 |
320 |
7.29e-12 |
SMART |
|
H15
|
335 |
403 |
1.78e-15 |
SMART |
|
low complexity region
|
427 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137851
|
| SMART Domains |
Protein: ENSMUSP00000118913
Gene: ENSMUSG00000028759
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
95 |
N/A |
INTRINSIC |
|
H15
|
119 |
186 |
1.3e-17 |
SMART |
|
| Meta Mutation Damage Score |
0.3256 |
| Coding Region Coverage |
- 1x: 79.7%
- 3x: 70.1%
- 10x: 44.5%
- 20x: 24.1%
|
| Validation Efficiency |
93% (78/84) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality and reduced body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,482 (GRCm39) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,693,243 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 84,967,620 (GRCm39) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,488,926 (GRCm39) |
H264L |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,961,903 (GRCm39) |
E15G |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,247 (GRCm39) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,240,732 (GRCm39) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,443,918 (GRCm39) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,300,585 (GRCm39) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,043,672 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
| Dnase1 |
T |
C |
16: 3,856,810 (GRCm39) |
V147A |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,056,225 (GRCm39) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,458,055 (GRCm39) |
V433I |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,857,560 (GRCm39) |
S4048P |
probably benign |
Het |
| Il1a |
C |
T |
2: 129,150,994 (GRCm39) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,500,206 (GRCm39) |
N39I |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,816,053 (GRCm39) |
Y747F |
probably benign |
Het |
| Mcc |
C |
T |
18: 44,579,000 (GRCm39) |
E803K |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,398,362 (GRCm39) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,309,730 (GRCm39) |
D361E |
probably benign |
Het |
| Slc35e1 |
A |
T |
8: 73,238,553 (GRCm39) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,762 (GRCm39) |
E604V |
probably benign |
Het |
| Tbx19 |
A |
T |
1: 164,988,089 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,538 (GRCm39) |
A179V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,956,355 (GRCm39) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,891,810 (GRCm39) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,150,692 (GRCm39) |
C505S |
probably damaging |
Het |
| Xpo5 |
T |
C |
17: 46,515,712 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hp1bp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Hp1bp3
|
APN |
4 |
137,967,940 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02407:Hp1bp3
|
APN |
4 |
137,967,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Hp1bp3
|
APN |
4 |
137,956,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Supermicro
|
UTSW |
4 |
137,953,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Hp1bp3
|
UTSW |
4 |
137,948,994 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0128:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0130:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Hp1bp3
|
UTSW |
4 |
137,949,472 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0652:Hp1bp3
|
UTSW |
4 |
137,956,080 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1240:Hp1bp3
|
UTSW |
4 |
137,957,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Hp1bp3
|
UTSW |
4 |
137,957,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Hp1bp3
|
UTSW |
4 |
137,949,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Hp1bp3
|
UTSW |
4 |
137,948,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Hp1bp3
|
UTSW |
4 |
137,967,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Hp1bp3
|
UTSW |
4 |
137,953,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3721:Hp1bp3
|
UTSW |
4 |
137,966,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Hp1bp3
|
UTSW |
4 |
137,949,018 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5042:Hp1bp3
|
UTSW |
4 |
137,949,419 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R5423:Hp1bp3
|
UTSW |
4 |
137,953,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5583:Hp1bp3
|
UTSW |
4 |
137,949,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5597:Hp1bp3
|
UTSW |
4 |
137,948,939 (GRCm39) |
start codon destroyed |
possibly damaging |
0.91 |
|
R6051:Hp1bp3
|
UTSW |
4 |
137,961,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6208:Hp1bp3
|
UTSW |
4 |
137,944,481 (GRCm39) |
start gained |
probably benign |
|
|
R7077:Hp1bp3
|
UTSW |
4 |
137,966,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Hp1bp3
|
UTSW |
4 |
137,953,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8312:Hp1bp3
|
UTSW |
4 |
137,950,750 (GRCm39) |
intron |
probably benign |
|
|
X0027:Hp1bp3
|
UTSW |
4 |
137,968,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hp1bp3
|
UTSW |
4 |
137,948,984 (GRCm39) |
missense |
not run |
|
|
Z1177:Hp1bp3
|
UTSW |
4 |
137,948,984 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2012-11-20 |
Incidental Mutation