Incidental Mutation 'R6051:Hp1bp3'
| ID |
484079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hp1bp3
|
| Ensembl Gene |
ENSMUSG00000028759 |
| Gene Name |
heterochromatin protein 1, binding protein 3 |
| Synonyms |
Hp1bp74 |
| MMRRC Submission |
044219-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R6051 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137943607-137971994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137961615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 154
(T154A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030541]
[ENSMUST00000097836]
[ENSMUST00000105825]
[ENSMUST00000105826]
[ENSMUST00000105827]
[ENSMUST00000137851]
[ENSMUST00000148681]
[ENSMUST00000165861]
|
| AlphaFold |
Q3TEA8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030541
AA Change: T318A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: T318A
| 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 |
possibly damaging
Transcript: ENSMUST00000097836
AA Change: T280A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759
AA Change: T280A
| 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 |
possibly damaging
Transcript: ENSMUST00000105825
AA Change: T280A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759
AA Change: T280A
| 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 |
possibly damaging
Transcript: ENSMUST00000105826
AA Change: T318A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: T318A
| 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 |
possibly damaging
Transcript: ENSMUST00000105827
AA Change: T318A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: T318A
| 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: 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148681
AA Change: T154A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122005
Gene: ENSMUSG00000028759
AA Change: T154A
| Domain | Start | End | E-Value | Type |
|---|
|
H15
|
3 |
60 |
2.05e-6 |
SMART |
|
H15
|
89 |
156 |
7.29e-12 |
SMART |
|
H15
|
171 |
239 |
1.78e-15 |
SMART |
|
low complexity region
|
263 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165861
AA Change: T318A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: T318A
| 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: ENSMUST00000154581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155344
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,231,304 (GRCm39) |
A1021S |
possibly damaging |
Het |
| Abl2 |
A |
G |
1: 156,469,655 (GRCm39) |
D869G |
probably damaging |
Het |
| Adamts9 |
G |
A |
6: 92,836,907 (GRCm39) |
A615V |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,867,099 (GRCm39) |
Y96H |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,640,345 (GRCm39) |
I238T |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,790,422 (GRCm39) |
H1587Q |
possibly damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,179 (GRCm39) |
T225A |
possibly damaging |
Het |
| Bcas2 |
T |
C |
3: 103,081,657 (GRCm39) |
Y87H |
possibly damaging |
Het |
| Brca1 |
C |
T |
11: 101,415,072 (GRCm39) |
E160K |
probably damaging |
Het |
| Cd2ap |
T |
C |
17: 43,107,219 (GRCm39) |
*638W |
probably null |
Het |
| Chd2 |
A |
T |
7: 73,085,590 (GRCm39) |
D1681E |
probably benign |
Het |
| Cit |
C |
T |
5: 115,984,464 (GRCm39) |
P12L |
probably benign |
Het |
| Cracdl |
G |
T |
1: 37,663,306 (GRCm39) |
P864Q |
probably damaging |
Het |
| Crisp1 |
T |
C |
17: 40,616,017 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,049,610 (GRCm39) |
D46G |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,971 (GRCm39) |
V387D |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,823,062 (GRCm39) |
H194R |
probably benign |
Het |
| Egfr |
C |
A |
11: 16,833,607 (GRCm39) |
T625N |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 16,286,751 (GRCm39) |
V924A |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,973,427 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
A |
T |
15: 100,592,549 (GRCm39) |
C553S |
probably damaging |
Het |
| Gm5617 |
T |
C |
9: 48,407,187 (GRCm39) |
L107P |
possibly damaging |
Het |
| Hectd1 |
G |
T |
12: 51,800,887 (GRCm39) |
T2035N |
probably benign |
Het |
| Il10rb |
A |
G |
16: 91,218,752 (GRCm39) |
T262A |
probably benign |
Het |
| Kansl1l |
A |
T |
1: 66,765,885 (GRCm39) |
N704K |
probably null |
Het |
| Kbtbd12 |
T |
C |
6: 88,594,930 (GRCm39) |
D300G |
possibly damaging |
Het |
| Lama4 |
G |
A |
10: 38,943,898 (GRCm39) |
A734T |
probably benign |
Het |
| Mllt6 |
G |
T |
11: 97,571,569 (GRCm39) |
G1069* |
probably null |
Het |
| Mns1 |
T |
C |
9: 72,356,735 (GRCm39) |
L302P |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,365,594 (GRCm39) |
C2039S |
possibly damaging |
Het |
| Myof |
A |
G |
19: 38,012,809 (GRCm39) |
L42P |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,900,685 (GRCm39) |
L868S |
probably damaging |
Het |
| Ndc80 |
C |
T |
17: 71,824,573 (GRCm39) |
G212E |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,581,657 (GRCm39) |
H610R |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,582,742 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or51m1 |
T |
C |
7: 103,578,084 (GRCm39) |
F18S |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,350,477 (GRCm39) |
S41P |
probably benign |
Het |
| Phactr2 |
A |
T |
10: 13,137,555 (GRCm39) |
C196S |
probably null |
Het |
| Ppp3ca |
T |
A |
3: 136,581,883 (GRCm39) |
Y140N |
probably damaging |
Het |
| Ptprb |
C |
A |
10: 116,176,995 (GRCm39) |
Y1260* |
probably null |
Het |
| Rap1a |
C |
T |
3: 105,657,613 (GRCm39) |
R2H |
possibly damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,871,664 (GRCm39) |
V794I |
probably benign |
Het |
| Rbks |
T |
C |
5: 31,809,163 (GRCm39) |
N200S |
probably damaging |
Het |
| Relch |
G |
T |
1: 105,648,997 (GRCm39) |
G712V |
probably damaging |
Het |
| Rnf186 |
G |
T |
4: 138,695,277 (GRCm39) |
K272N |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,458 (GRCm39) |
P794S |
probably damaging |
Het |
| Tbc1d30 |
T |
A |
10: 121,132,750 (GRCm39) |
I205F |
probably damaging |
Het |
| Tkt |
C |
T |
14: 30,290,153 (GRCm39) |
P261S |
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,480,434 (GRCm39) |
R267H |
possibly damaging |
Het |
| Ttc14 |
T |
C |
3: 33,863,073 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,737,805 (GRCm39) |
S4245P |
probably benign |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,978 (GRCm39) |
I237F |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,097,896 (GRCm39) |
H57L |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,960,809 (GRCm39) |
N40S |
possibly damaging |
Het |
| Xcr1 |
A |
T |
9: 123,685,181 (GRCm39) |
F194I |
probably benign |
Het |
| Zmiz1 |
T |
A |
14: 25,572,494 (GRCm39) |
M1K |
probably null |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCTGCTTGTCCAGGATGC -3'
(R):5'- TATCACACTCATCTATTGCTGGG -3'
Sequencing Primer
(F):5'- CAGGATGCCTGCGGTTTG -3'
(R):5'- GAGACATGGCCTCTCTATGTAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation